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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PSG4 5672 broad.mit.edu 37 19 43421896 43421896 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:43421896C>T uc002ovj.1 - 0 148 c.49G>A c.(49-51)Ggg>Agg p.G17R PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.G17R NM_002782 NP_002773 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA. 17 defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) AGCAGGAGCCCCTTCCAGGTG 0.582000 80 29 0 0 0.00209593 0 0 SCN10A 6336 broad.mit.edu 37 3 38793949 38793949 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:38793949G>A uc003ciq.3 - 10 1516 c.1516C>T c.(1516-1518)Cat>Tat p.H506Y NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 506 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GACCGGAAATGGAACACACTG 0.567000 12 7 0 0 0.000274275 0 0 MCTP1 79772 broad.mit.edu 37 5 94275859 94275859 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:94275859G>A uc003kkx.2 - 4 1102 c.1102C>T c.(1102-1104)Cct>Tct p.P368S MCTP1_uc003kkv.2_Missense_Mutation_p.P147S|MCTP1_uc003kkw.2_Missense_Mutation_p.P147S|MCTP1_uc003kkz.2_Missense_Mutation_p.P29S NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA. 368 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TCATGGTCAGGATAATGAGGA 0.403000 94 45 0 0 0.00361006 0 0 USP33 23032 broad.mit.edu 37 1 78183733 78183733 + Splice_Site SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:78183733C>T uc001dht.3 - 18 2178 c.1831_splice c.e18-1 p.I611_splice USP33_uc001dhs.3_Splice_Site_p.I332_splice|USP33_uc001dhu.3_Splice_Site_p.I580_splice|USP33_uc001dhv.3_Splice_Site_p.I416_splice|USP33_uc001dhw.3_Splice_Site_p.I603_splice NM_015017 NP_963918 Q8TEY7 UBP33_HUMAN Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA. 611 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process VCB complex|perinuclear region of cytoplasm G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 TGCACAAAATCTAAAAAAGAA 0.308000 52 34 0 0 0.00375469 0 0 SLC4A3 6508 broad.mit.edu 37 2 220502338 220502338 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:220502338C>T uc002vmo.4 + 16 2861 c.2652C>T c.(2650-2652)ccC>ccT p.P884P SLC4A3_uc002vmp.4_Silent_p.P857P|SLC4A3_uc010fwm.3_Silent_p.P407P|SLC4A3_uc010fwn.1_Silent_p.P366P NM_201574 NP_963868 P48751 B3A3_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA. 857 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGTTCTACCCCCCTGAGGGGG 0.637000 22 8 0 0 0.00307968 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140175450 140175450 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140175450G>A uc003lhd.2 + 0 1007 c.901G>A c.(901-903)Gaa>Aaa p.E301K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E301K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E301K NM_018905 NP_061728 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA. 316 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCTCAGGGGAAATCAGAAC 0.433000 26 12 0 0 0.00185496 0 0 LCA5 167691 broad.mit.edu 37 6 80196870 80196870 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:80196870G>A uc003piy.3 - 8 2557 c.1945C>T c.(1945-1947)Caa>Taa p.Q649* LCA5_uc003pix.3_Nonsense_Mutation_p.Q649* NM_181714 NP_859065 Q86VQ0 LCA5_HUMAN Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA. 649 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) TCATGTTCTTGATCTCTGCTG 0.413000 95 37 0 0 0.00148497 0 0 SLC26A9 115019 broad.mit.edu 37 1 205902149 205902149 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:205902149G>A uc001hdp.3 - 2 303 c.189C>T c.(187-189)ccC>ccT p.P63P SLC26A9_uc001hdq.3_Silent_p.P63P NM_134325 NP_599152 Q7LBE3 S26A9_HUMAN Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA. 63 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) TCTTGTACTTGGGGAGCCAGG 0.562000 41 20 0 0 0.00229938 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35144265 35144265 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:35144265G>A uc003teq.1 - 17 1950 c.843C>T c.(841-843)tgC>tgT p.C281C DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA. CCTGTCGAGAGCATATCAAGG 0.368000 30 18 0 0 0.00188189 0 0 HERC2 8924 broad.mit.edu 37 15 28436199 28436199 + Missense_Mutation SNP C G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:28436199C>G uc001zbj.3 - 54 8667 c.8561G>C c.(8560-8562)gGa>gCa p.G2854A HERC2_uc001zbk.1_Missense_Mutation_p.G389A NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 2854 DOC. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CAGGGAATTTCCACCTAGGAA 0.368000 19 10 0 0 0.000442599 0 0 PLCB1 23236 broad.mit.edu 37 20 8637904 8637904 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:8637904C>T uc002wnb.3 + 7 671 c.668C>T c.(667-669)cCt>cTt p.P223L PLCB1_uc010zrb.1_Missense_Mutation_p.P122L|PLCB1_uc002wna.3_Missense_Mutation_p.P223L|PLCB1_uc002wnc.1_Missense_Mutation_p.P122L NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 223 CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TGCCCTCGACCTGAAATTGAT 0.393000 59 29 0 0 0.00209593 0 0 C2orf44 80304 broad.mit.edu 37 2 24261392 24261392 + Nonsense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:24261392T>A uc002rep.2 - 1 1104 c.973A>T c.(973-975)Aag>Tag p.K325* C2orf44_uc010eya.2_Nonsense_Mutation_p.K325* NM_025203 NP_079479 Q9H6R7 CB044_HUMAN Homo sapiens chromosome 2 open reading frame 44 (C2orf44), transcript variant 1, mRNA. 325 protein binding C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACTGCCTTCTTAAAGGTCACA 0.413000 T ALK NSCLC 41 18 0 0 0.00188189 0 0 FBXO15 201456 broad.mit.edu 37 18 71740773 71740773 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:71740773C>T uc002llf.2 - 9 1536 c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Missense_Mutation_p.E410K NM_001142958 NP_689889 Q8NCQ5 FBX15_HUMAN Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA. 410 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) AGGTATTCTTCGGTCTCTCTG 0.453000 136 49 0 0 0.00361006 0 0 abParts 0 broad.mit.edu 37 14 106757745 106757745 + RNA SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:106757745G>A uc021ser.1 - 749 c.19633C>T Parts of antibodies, mostly variable regions. GAGATGGTGAGCCTGCTCTTC 0.527000 44 31 0 0 0.00283554 0 0 TBC1D13 54662 broad.mit.edu 37 9 131559354 131559354 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:131559354C>T uc010myj.3 + 6 527 c.404C>T c.(403-405)tCc>tTc p.S135F TBC1D13_uc010myk.3_Missense_Mutation_p.S135F|TBC1D13_uc010myl.3_5'UTR NM_018201 NP_060671 Q9NVG8 TBC13_HUMAN Homo sapiens TBC1 domain family, member 13 (TBC1D13), mRNA. 135 Rab-GAP TBC. intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 CCAGACATTTCCTTCTTCCAG 0.502000 92 91 0 0 0.00361006 0 0 ZFP42 132625 broad.mit.edu 37 4 188924639 188924639 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:188924639C>T uc003izh.1 + 3 1086 c.678C>T c.(676-678)ttC>ttT p.F226F ZFP42_uc003izi.1_Silent_p.F226F|ZFP42_uc021xvm.1_Silent_p.F226F NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA. 226 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GGAAAGCGTTCGTTGAGAGCT 0.507000 65 22 0 0 0.00278032 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37506675 37506675 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:37506675G>A uc021ppc.1 + 32 3067 c.2968G>A c.(2968-2970)Gaa>Aaa p.E990K ANKRD30A_uc001iza.1_Missense_Mutation_p.E990K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 1046 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 TATATTAAATGAAAAAATTAG 0.308000 63 27 0 0 0.00209593 0 0 FLT4 2324 broad.mit.edu 37 5 180048217 180048217 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:180048217C>T uc003mlz.4 - 13 2135 c.2056G>A c.(2056-2058)Gac>Aac p.D686N FLT4_uc003mma.4_Missense_Mutation_p.D686N|FLT4_uc003mmb.1_Missense_Mutation_p.D219N|FLT4_uc011dgy.2_Missense_Mutation_p.D686N NM_182925 NP_891555 P35916 VGFR3_HUMAN Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA. 686 Ig-like C2-type 7. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) ACCAGGAGGTCGGTCAAGTTC 0.637000 28 16 0 0 0.000958276 0 0 NTF3 4908 broad.mit.edu 37 12 5604142 5604142 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:5604142C>T uc001qnl.4 + 0 845 c.762C>T c.(760-762)atC>atT p.I254I NTF3_uc001qnk.4_Silent_p.I267I NM_002527 NP_002518 P20783 NTF3_HUMAN Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA. 254 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 CGAGAAAAATCGGAAGAACAT 0.368000 13 10 0 0 0.000442599 0 0 THADA 63892 broad.mit.edu 37 2 43800110 43800110 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:43800110G>A uc002rsw.4 - 11 2103 c.1751C>T c.(1750-1752)tCc>tTc p.S584F THADA_uc010far.3_5'Flank|THADA_uc002rsx.4_Missense_Mutation_p.S584F|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.S294F|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Missense_Mutation_p.S294F|THADA_uc002rtb.1_Missense_Mutation_p.S584F|THADA_uc002rtc.4_Missense_Mutation_p.S584F|THADA_uc002rtd.3_Missense_Mutation_p.S584F NM_001083953 NP_071348 Q6YHU6 THADA_HUMAN Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA. 584 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) AGACCCTAAGGATGGGAAAGA 0.428000 213 82 0 0 0.00361006 0 0 DSP 1832 broad.mit.edu 37 6 7580162 7580162 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:7580162C>T uc003mxp.1 + 22 4018 c.3739C>T c.(3739-3741)Cga>Tga p.R1247* DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Nonsense_Mutation_p.R1247* NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1247 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAGGGAAAATCGAGATCTGAA 0.443000 54 22 0 0 0.00229938 0 0 HRNR 388697 broad.mit.edu 37 1 152188325 152188325 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:152188325C>T uc001ezt.1 - 2 5856 c.5780G>A c.(5779-5781)gGg>gAg p.G1927E NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 1927 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) GGAGCCAGACCCATGCTGACC 0.582000 451 51 0 0 0.00361006 0 0 MYO3A 53904 broad.mit.edu 37 10 26241088 26241088 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:26241088C>T uc001isn.2 + 2 409 c.49C>T c.(49-51)Cct>Tct p.P17S MYO3A_uc009xko.1_Missense_Mutation_p.P17S|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.P17S|MYO3A_uc001ism.2_Missense_Mutation_p.P17S NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 17 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CTTTCCTGATCCTTCTGATAC 0.333000 37 17 0 0 0.00400662 0 0 ROS1 6098 broad.mit.edu 37 6 117609907 117609907 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:117609907C>T uc003pxp.1 - 42 6991 c.6792G>A c.(6790-6792)atG>atA p.M2264I ROS1_uc011ebi.1_Non-coding_Transcript NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 2264 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) TCTTCGTTTCCATTAAAGCAA 0.388000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 37 17 0 0 0.00152264 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36104692 36104692 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:36104692G>A uc001wtj.3 - 30 4662 c.4271C>T c.(4270-4272)tCt>tTt p.S1424F RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Missense_Mutation_p.S1424F|RALGAPA1_uc010tpv.2_Missense_Mutation_p.S1437F|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S1471F NM_194301 NP_919277 Q6GYQ0 RGPA1_HUMAN Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA. 1424 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus Ral GTPase activator activity|protein heterodimerization activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ATTGAGAACAGATTTTTCTGT 0.358000 11 11 0 0 0.000978159 0 0 MARCO 8685 broad.mit.edu 37 2 119726751 119726751 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:119726751G>A uc002tln.1 + 1 245 c.113G>A c.(112-114)aGg>aAg p.R38K MARCO_uc010yyf.1_5'UTR NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 38 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.K37N(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 AAGCCCAAGAGGAGAAATGGG 0.577000 48 21 0 0 0.000878237 0 0 VCAM1 7412 broad.mit.edu 37 1 101198024 101198024 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:101198024G>A uc001dti.3 + 6 1797 c.1576G>A c.(1576-1578)Gaa>Aaa p.E526K VCAM1_uc010ouj.2_Missense_Mutation_p.E464K|VCAM1_uc001dtj.3_Missense_Mutation_p.E434K NM_001078 NP_001069 P19320 VCAM1_HUMAN Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA. 526 Ig-like C2-type 6. 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) CATCCTGGAGGAAGGCAGTTC 0.537000 55 35 0 0 0.00327116 0 0 CNGB3 54714 broad.mit.edu 37 8 87738817 87738817 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:87738817G>A uc003ydx.3 - 2 328 c.280C>T c.(280-282)Cca>Tca p.P94S NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 94 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GTTCCAGTTGGTTCTGCTGCA 0.398000 191 97 0 0 0.00361006 0 0 NDST4 64579 broad.mit.edu 37 4 115997498 115997498 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:115997498G>A uc003ibu.3 - 1 1374 c.695C>T c.(694-696)cCt>cTt p.P232L NDST4_uc010imw.3_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 232 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TAAAAGTACAGGCTGGTAGGT 0.443000 58 17 0 0 0.00121646 0 0 OR10J3 441911 broad.mit.edu 37 1 159283490 159283490 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:159283490G>A uc010piu.2 - 0 960 c.960C>T c.(958-960)ggC>ggT p.G320G NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA. 320 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) CAAAGGAAAAGCCTTCACAAC 0.403000 69 35 0 0 0.00428921 0 0 VAMP4 8674 broad.mit.edu 37 1 171678874 171678874 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:171678874C>T uc001ghx.2 - 5 655 c.276G>A c.(274-276)tcG>tcA p.S92S VAMP4_uc001ghw.2_Non-coding_Transcript|VAMP4_uc001ghy.2_Silent_p.S91S|VAMP4_uc001ghv.2_Non-coding_Transcript NM_003762 NP_003753 O75379 VAMP4_HUMAN Homo sapiens vesicle-associated membrane protein 4 (VAMP4), transcript variant 1, mRNA. 92 v-SNARE coiled-coil homology. vesicle-mediated transport Golgi membrane|endosome|integral to membrane|lysosome large_intestine(4) 4 all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TTGCATTATCCGATAAGCTTT 0.363000 69 23 0 0 0.000878237 0 0 SPRR4 163778 broad.mit.edu 37 1 152944375 152944375 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:152944375C>T uc001fav.1 + 1 72 c.9C>T c.(7-9)tcC>tcT p.S3S SPRR4_uc021ozm.1_Silent_p.S3S NM_173080 NP_775103 Q96PI1 SPRR4_HUMAN Homo sapiens small proline-rich protein 4 (SPRR4), mRNA. 3 keratinization|peptide cross-linking cell cortex lung(1)|prostate(1) 2 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CAATGTCTTCCcagcagcagc 0.532000 47 29 0 0 0.00178596 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216060 20216060 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:20216060C>T uc010tkt.2 + 0 474 c.474C>T c.(472-474)atC>atT p.I158I NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA. 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCCACTCTATCATGCAGGTCA 0.507000 13 9 0 0 0.000442599 0 0 TRPC4 7223 broad.mit.edu 37 13 38237841 38237841 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:38237841G>A uc010abx.3 - 5 1635 c.1400C>T c.(1399-1401)tCa>tTa p.S467L TRPC4_uc010abv.3_Missense_Mutation_p.S47L|TRPC4_uc001uwt.3_Missense_Mutation_p.S467L|TRPC4_uc001uws.3_Missense_Mutation_p.S467L|TRPC4_uc010tey.2_Missense_Mutation_p.S467L|TRPC4_uc010abw.3_Missense_Mutation_p.S294L|TRPC4_uc010aby.3_Missense_Mutation_p.S467L NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 467 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.S467L(3) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CATGTCCCATGATTCTCGTGG 0.423000 25 13 0 0 0.00244969 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558795 140558795 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140558795C>T uc011dai.2 + 0 1425 c.1180C>T c.(1180-1182)Ctg>Ttg p.L394L PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 394 Cadherin 4. 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) ACCCTTCCTCCTGAAATCTTC 0.458000 110 26 0 0 0.00332997 0 0 HIVEP3 59269 broad.mit.edu 37 1 41976638 41976638 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:41976638G>A uc001cgz.4 - 8 7918 c.6705C>T c.(6703-6705)gcC>gcT p.A2235A HIVEP3_uc001cha.4_Silent_p.A2234A|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 2235 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGGCCTCCCGGGCCCCTGTCA 0.697000 24 25 0 0 0.00106085 0 0 NAALADL2 254827 broad.mit.edu 37 3 174814871 174814871 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:174814871G>A uc003fit.3 + 1 422 c.335G>A c.(334-336)cGa>cAa p.R112Q NAALADL2_uc003fiu.1_Missense_Mutation_p.R105Q NM_207015 NP_996898 Q58DX5 NADL2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA. 112 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) CATTATACACGATCTGCACCA 0.378000 85 41 0 0 0.00148497 0 0 OR6B3 150681 broad.mit.edu 37 2 240985208 240985208 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:240985208G>A uc010zoe.2 - 0 282 c.282C>T c.(280-282)ttC>ttT p.F94F PRR21_uc010zod.2_5'Flank NM_173351 NP_775486 Q8NGW1 OR6B3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA. 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) TGCACCCGACGAAAGAGATGC 0.567000 22 10 0 0 0.00316338 0 0 MAN1A2 10905 broad.mit.edu 37 1 117984892 117984892 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:117984892C>T uc001ehd.1 + 5 1616 c.895C>T c.(895-897)Ctt>Ttt p.L299F MAN1A2_uc009whg.1_Missense_Mutation_p.L89F NM_006699 NP_006690 O60476 MA1A2_HUMAN Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA. 299 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TGAGAAACTCCTTCCTGCCTT 0.343000 108 23 0 0 0.000878237 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2019079 2019079 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:2019079G>A uc021qsx.1 - 3 710 c.479C>T c.(478-480)tCc>tTc p.S160F CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.S160F NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA. 160 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) CACCACCAGGGATTCATTGAA 0.602000 15 4 0 0 0.00116845 0 0 SPACA7 122258 broad.mit.edu 37 13 113052392 113052392 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:113052392C>T uc001vsd.2 + 2 230 c.181C>T c.(181-183)Ctg>Ttg p.L61L NM_145248 NP_660291 Q96KW9 SPAC7_HUMAN Homo sapiens sperm acrosome associated 7 (SPACA7), mRNA. 61 extracellular region large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 GATTTTAGATCTGAATAAAAC 0.478000 76 27 0 0 0.001512 0 0 KIAA1217 56243 broad.mit.edu 37 10 24813486 24813486 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:24813486C>T uc001iru.4 + 12 3094 c.2691C>T c.(2689-2691)tcC>tcT p.S897S KIAA1217_uc001irs.3_Silent_p.S817S|KIAA1217_uc001irt.4_Silent_p.S862S|KIAA1217_uc010qcy.2_Silent_p.S862S|KIAA1217_uc010qcz.2_Silent_p.S862S|KIAA1217_uc001irv.1_Silent_p.S712S|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Silent_p.S580S|KIAA1217_uc001irz.3_Silent_p.S580S|KIAA1217_uc001irx.3_Silent_p.S580S|KIAA1217_uc001iry.3_Silent_p.S580S NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 897 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 TCCAGCCCTCCCAGCACTCCG 0.647000 18 8 0 0 0.000274275 0 0 ZFHX4 79776 broad.mit.edu 37 8 77761883 77761883 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:77761883C>T uc003yau.2 + 7 4168 c.3781C>T c.(3781-3783)Ctc>Ttc p.L1261F ZFHX4_uc003yaw.1_Missense_Mutation_p.L1216F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 1216 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAAAATGCATCTCCAACTGCA 0.493000 HNSCC(33;0.089) 35 9 0 0 0.000442599 0 0 OR11L1 391189 broad.mit.edu 37 1 248004784 248004784 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:248004784C>T uc001idn.1 - 0 415 c.415G>A c.(415-417)Ggg>Agg p.G139R NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA. 139 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) GCACAGAGCCCACGATGCATG 0.597000 33 10 0 0 0.000673444 0 0 DNER 92737 broad.mit.edu 37 2 230282935 230282935 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:230282935G>A uc002vpv.3 - 8 1645 c.1498C>T c.(1498-1500)Ctc>Ttc p.L500F NM_139072 NP_620711 Q8NFT8 DNER_HUMAN Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA. 500 EGF-like 7. Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TCACAGTAGAGGCCATGGTAA 0.552000 31 12 0 0 0.00185496 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G A A rs121913388 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:21971120G>A uc003zpk.3 - 1 544 c.238C>T c.(238-240)Cga>Tga p.R80* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.R80*|CDKN2A_uc003zpl.3_Missense_Mutation_p.P94L NM_000077 NP_000068 P42771 CD2A1_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA. 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence cytosol|nucleus NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding p.0?(1315)|p.R80*(200)|p.?(44)|p.P135L(7)|p.T79fs*37(2)|p.R80Q(2)|p.T79fs*65(2)|p.E61_L94del(2)|p.R80fs*34(2)|p.R80?(2)|p.T79I(2)|p.L65fs*38(1)|p.0(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.A68fs*3(1)|p.T79T(1)|p.R80L(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 45 41 0 0 0.00321405 0 0 NRSN1 140767 broad.mit.edu 37 6 24145875 24145875 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:24145875G>A uc010jpq.1 + 3 526 c.289G>A c.(289-291)Gat>Aat p.D97N NM_080723 NP_542454 Q8IZ57 NRSN1_HUMAN Homo sapiens neurensin 1 (NRSN1), mRNA. 97 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 TGGCGAAGCCGATTTTGTGGT 0.507000 69 18 0 0 0.00074312 0 0 QRICH2 84074 broad.mit.edu 37 17 74287969 74287969 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:74287969A>T uc002jrd.1 - 3 2521 c.2341T>A c.(2341-2343)Tat>Aat p.Y781N QRICH2_uc010dgw.1_Intron NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN Homo sapiens glutamine rich 2 (QRICH2), mRNA. 781 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 TCATGCAAATATGCACCAGGT 0.502000 143 52 0 0 0.00361006 0 0 SLC12A5 57468 broad.mit.edu 37 20 44663592 44663592 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:44663592G>A uc010zxl.1 + 1 203 c.127G>A c.(127-129)Ggc>Agc p.G43S SLC12A5_uc002xra.2_Missense_Mutation_p.G20S|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.G20S NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA. 43 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity p.K43K(1) 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) CTCAGGTGATGGCAACCCCAA 0.527000 78 15 0 0 0.000958276 0 0 BBX 56987 broad.mit.edu 37 3 107524238 107524238 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:107524238C>T uc010hpr.3 + 17 3087 c.2760C>T c.(2758-2760)ctC>ctT p.L920L BBX_uc003dwk.4_Silent_p.L890L|BBX_uc003dwl.4_Missense_Mutation_p.S584L|BBX_uc003dwm.4_Silent_p.L890L|BBX_uc003dwo.4_Missense_Mutation_p.S237L NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA. 920 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) CAACTCCGCTCACCCATGATG 0.433000 132 51 0 0 0.00361006 0 0 FLT4 2324 broad.mit.edu 37 5 180057250 180057250 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:180057250G>A uc003mlz.4 - 3 567 c.488C>T c.(487-489)cCc>cTc p.P163L FLT4_uc003mma.4_Missense_Mutation_p.P163L|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Missense_Mutation_p.P163L|FLT4_uc011dgz.1_Missense_Mutation_p.P163L|FLT4_uc011dha.1_Missense_Mutation_p.P147S NM_182925 NP_891555 P35916 VGFR3_HUMAN Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA. 163 Ig-like C2-type 2. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) ATTGAGGCCGGGGATGGACAC 0.632000 16 13 0 0 0.00244969 0 0 H1FOO 132243 broad.mit.edu 37 3 129267891 129267891 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:129267891C>T uc003emu.3 + 2 431 c.426C>T c.(424-426)ccC>ccT p.P142P H1FOO_uc003emv.3_Silent_p.P3P NM_153833 NP_722575 Q8IZA3 H1FOO_HUMAN Homo sapiens H1 histone family, member O, oocyte-specific (H1FOO), mRNA. 142 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding endometrium(1)|lung(4)|skin(1) 6 AGATGGCCCCCGCGACGGCTC 0.617000 9 10 0 0 0.00136819 0 0 LINC00174 285908 broad.mit.edu 37 7 65842257 65842257 + RNA SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:65842257G>A uc003tux.3 - 4 c.3198C>T Homo sapiens long intergenic non-protein coding RNA 174 (LINC00174), non-coding RNA. TGAACGCAGGGAAGCCTGGGG 0.726000 3 5 0 0 0.000602214 0 0 SPON1 10418 broad.mit.edu 37 11 14101558 14101558 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:14101558G>A uc001mle.3 + 5 932 c.664G>A c.(664-666)Gat>Aat p.D222N NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA. 223 Spondin. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) ACACCCAAAGGATTACCCTCG 0.483000 40 15 0 0 0.00074312 0 0 HK3 3101 broad.mit.edu 37 5 176308748 176308748 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:176308748G>A uc003mfa.3 - 16 2430 c.2338C>T c.(2338-2340)Cag>Tag p.Q780* HK3_uc003mez.3_Nonsense_Mutation_p.Q336* NM_002115 NP_002106 P52790 HXK3_HUMAN Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA. 780 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity p.Q780Q(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGAAGGCGCTGGATCTGCTGG 0.542000 89 30 0 0 0.00209593 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967226 142967226 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:142967226C>T uc004fca.3 + 0 54 c.24C>T c.(22-24)atC>atT p.I8I NM_001012989 NP_001013007 Q5JXB2 UE2NL_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA. 8 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) CCCACAGGATCATCAAGGAAA 0.458000 30 33 0 0 0.000953801 0 0 UBQLN4 56893 broad.mit.edu 37 1 156020207 156020207 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:156020207G>A uc001fna.3 - 3 640 c.616C>T c.(616-618)Cag>Tag p.Q206* UBQLN4_uc010pgx.2_Nonsense_Mutation_p.Q186* NM_020131 NP_064516 Q9NRR5 UBQL4_HUMAN Homo sapiens ubiquilin 4 (UBQLN4), mRNA. 206 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) ATCATATCCTGGACCAGGGGG 0.547000 69 27 0 0 0.00178596 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518733 113518733 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:113518733G>A uc010ljy.1 - 3 2445 c.2414C>T c.(2413-2415)tCa>tTa p.S805L NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 805 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 ACCTAAACGTGATTCCTTTTC 0.383000 36 18 0 0 0.000958276 0 0 MUC3A 4584 broad.mit.edu 37 7 100552178 100552178 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:100552178C>T uc003uxl.1 + 0 1429 c.629C>T c.(628-630)cCc>cTc p.P210L MUC3A_uc003uxk.1_Non-coding_Transcript SubName: Full=Intestinal mucin; Flags: Fragment; breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 GAAATAACCCCCTTTTCTTAT 0.478000 296 78 0 0 0.00361006 0 0 OR7G3 390883 broad.mit.edu 37 19 9237101 9237102 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9237101_9237102GG>AA uc010xkl.2 - 0 525_526 c.525_526CC>TT c.(523-528)ccccac>ccTTac p.H176Y NM_001001958 NP_001001958 Q8NG95 OR7G3_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA. 176 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 CAGAAAAAGTGGGGAATTTCCA 0.485000 50 16 0 0 6.4e-05 0 0 FBXO39 162517 broad.mit.edu 37 17 6683194 6683194 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:6683194G>A uc010vtg.2 + 1 127 c.7G>A c.(7-9)Gaa>Aaa p.E3K NM_153230 NP_694962 Q8N4B4 FBX39_HUMAN Homo sapiens F-box protein 39 (FBXO39), mRNA. 3 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 CTGGATGGACGAAGAAAGTGA 0.512000 17 14 0 0 0.00400662 0 0 DHX38 9785 broad.mit.edu 37 16 72142768 72142768 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:72142768G>A uc002fcb.3 + 23 3680 c.3325G>A c.(3325-3327)Gga>Aga p.G1109R DHX38_uc010vmp.2_Missense_Mutation_p.G421R NM_014003 NP_054722 Q92620 PRP16_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA. 1109 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) CTCCCTTTTTGGAATGGGCTA 0.547000 22 14 0 0 0.00400662 0 0 LILRB4 11006 broad.mit.edu 37 19 55175813 55175813 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55175813G>A uc002qgp.3 + 3 894 c.532G>A c.(532-534)Gct>Act p.A178T LILRB4_uc002qgq.3_Missense_Mutation_p.A178T|LILRB4_uc010ers.1_Missense_Mutation_p.A91T|LILRB4_uc010ert.3_Missense_Mutation_p.A219T|LILRB4_uc010eru.3_Missense_Mutation_p.A207T NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 178 Ig-like C2-type 2. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GCAGCACCAGGCTGAATTCCC 0.587000 36 22 0 0 0.000720815 0 0 APOB 338 broad.mit.edu 37 2 21251279 21251280 + Missense_Mutation DNP CC AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:21251279_21251280CC>AA uc002red.3 - 12 1876_1877 c.1748_1749GG>TT c.(1747-1749)tgg>tTT p.W583F NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 583 Vitellogenin. 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) CATTCTGTTCCCATGGTAGAAT 0.416000 615 13 0 0 6.4e-05 0 0 MUC15 143662 broad.mit.edu 37 11 26586820 26586820 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:26586820C>T uc001mqw.3 - 2 940 c.667G>A c.(667-669)Gat>Aat p.D223N ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.D196N|MUC15_uc001mqy.3_Missense_Mutation_p.D223N NM_001135091 NP_663625 Q8N387 MUC15_HUMAN Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA. 196 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 GTGAAGCTATCACTGTTTGTG 0.408000 51 30 0 0 0.001512 0 0 GPR98 84059 broad.mit.edu 37 5 89989931 89989931 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:89989931C>T uc003kju.3 + 32 7454 c.7358C>T c.(7357-7359)tCa>tTa p.S2453L GPR98_uc003kjt.3_Missense_Mutation_p.S159L|GPR98_uc003kjv.3_Missense_Mutation_p.S53L NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2453 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding 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) TCAGCGTTTTCATTTTTCAGT 0.493000 17 16 0 0 0.00074312 0 0 OR8K3 219473 broad.mit.edu 37 11 56085989 56085989 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:56085989G>A uc010rjf.2 + 0 207 c.207G>A c.(205-207)atG>atA p.M69I NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA. 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TGGCTTTCATGGATCTTGGTT 0.383000 63 45 0 0 0.00361006 0 0 CTNND2 1501 broad.mit.edu 37 5 11565081 11565081 + Missense_Mutation SNP C T T rs139706540 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:11565081C>T uc003jfa.1 - 2 407 c.262G>A c.(262-264)Gag>Aag p.E88K CTNND2_uc010itt.2_5'UTR|CTNND2_uc011cmy.1_5'UTR|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 88 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CTGCCAGTCTCGGATCCGAGC 0.527000 23 9 0 0 0.000442599 0 0 GLYATL1 92292 broad.mit.edu 37 11 58722338 58722338 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:58722338C>T uc001nnh.2 + 4 425 c.375C>T c.(373-375)atC>atT p.I125I GLYATL1_uc001nnf.3_Silent_p.I94I|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Silent_p.I94I|GLYATL1_uc001nnj.2_Silent_p.I94I NM_080661 NP_542392 Q969I3 GLYL1_HUMAN Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA. 94 mitochondrion glycine N-acyltransferase activity p.I125I(2) NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) ATTGTGAGATCGTAAACTGGA 0.393000 19 8 0 0 0.00307968 0 0 DNAH9 1770 broad.mit.edu 37 17 11666863 11666863 + Missense_Mutation SNP G A A rs140313224 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:11666863G>A uc002gne.3 + 35 7170 c.7102G>A c.(7102-7104)Gaa>Aaa p.E2368K DNAH9_uc010coo.3_Missense_Mutation_p.E1662K NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 2368 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E2368K(2) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTGCCCTAAGGAAATTTATGA 0.493000 34 19 0 0 0.00121646 0 0 EPB41L2 2037 broad.mit.edu 37 6 131276314 131276314 + Silent SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:131276314G>T uc003qch.2 - 2 818 c.636C>A c.(634-636)acC>acA p.T212T EPB41L2_uc010kfl.2_Silent_p.T212T|EPB41L2_uc003qcg.1_Silent_p.T212T|EPB41L2_uc003qci.3_Silent_p.T212T|EPB41L2_uc011eby.2_Silent_p.T212T|EPB41L2_uc010kfk.2_Silent_p.T212T NM_001431 NP_001422 O43491 E41L2_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA. 212 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) TGGTCTTCTTGGTGACTTTTT 0.473000 155 7 0.00307968 0.00956451 0.00307968 1 0 ZNF555 148254 broad.mit.edu 37 19 2853213 2853213 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:2853213C>T uc002lwo.3 + 3 1288 c.1150C>T c.(1150-1152)Cga>Tga p.R384* ZNF555_uc002lwn.4_Nonsense_Mutation_p.R383* NM_152791 NP_690004 Q8NEP9 ZN555_HUMAN Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA. 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 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) CCAGTCCTTTCGAAGACATGA 0.478000 23 9 0 0 0.000442599 0 0 FAF1 11124 broad.mit.edu 37 1 51032830 51032830 + Missense_Mutation SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:51032830C>A uc001cse.1 - 12 1640 c.1187G>T c.(1186-1188)tGt>tTt p.C396F FAF1_uc009vyw.1_Non-coding_Transcript|FAF1_uc010onc.1_Missense_Mutation_p.C154F NM_007051 NP_008982 Q9UNN5 FAF1_HUMAN Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA. 396 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) GGATTCAGCACAAAGCATTTG 0.393000 68 19 1.67942e-08 5.28471e-08 0.00074312 1 0 TMEM132A 54972 broad.mit.edu 37 11 60704083 60704083 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:60704083G>A uc001nqi.3 + 10 2972 c.2779G>A c.(2779-2781)Gag>Aag p.E927K TMEM132A_uc001nqj.3_Missense_Mutation_p.E926K NM_017870 NP_060340 Q24JP5 T132A_HUMAN Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA. 926 Confers cellular localization similar to full-length form (By similarity). Golgi membrane|endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CTGCCCCTGTGAGAGTGGGGG 0.726000 9 4 0 0 0.000602214 0 0 CUL9 23113 broad.mit.edu 37 6 43173896 43173896 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:43173896C>T uc003ouk.3 + 24 5020 c.4945C>T c.(4945-4947)Ctc>Ttc p.L1649F CUL9_uc003oul.3_Missense_Mutation_p.L1649F|CUL9_uc010jyk.3_Missense_Mutation_p.L801F NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN Homo sapiens cullin 9 (CUL9), mRNA. 1649 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CCAGTTCCACCTCTTCCAGCT 0.562000 9 7 0 0 0.000442599 0 0 AGXT2L2 85007 broad.mit.edu 37 5 177651732 177651732 + Splice_Site SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:177651732T>A uc003miz.3 - 5 666 c.414_splice c.e5-1 p.H138_splice AGXT2L2_uc003miy.3_Splice_Site|AGXT2L2_uc003mjc.3_Splice_Site_p.H97_splice|AGXT2L2_uc003mjb.3_Splice_Site|AGXT2L2_uc003mja.3_Splice_Site|AGXT2L2_uc003mjd.1_5'UTR NM_153373 NP_699204 Q8IUZ5 AT2L2_HUMAN Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA. 138 mitochondrion pyridoxal phosphate binding|transaminase activity breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1) 6 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TGATACGCACTGGGGAGGAGA 0.622000 20 7 0 0 0.00198382 0 0 EXD1 161829 broad.mit.edu 37 15 41476750 41476750 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:41476750C>T uc010ucv.2 - 11 1370 c.1098G>A c.(1096-1098)aaG>aaA p.K366K EXD1_uc001znj.3_Silent_p.K106K|EXD1_uc001znk.3_Silent_p.K308K NM_152596 NP_689809 Q8NHP7 EXD1_HUMAN Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA. 308 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 TCTGGAAGTCCTTGAGTTGAA 0.428000 18 30 0 0 0.00209593 0 0 OR8K1 390157 broad.mit.edu 37 11 56113937 56113937 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:56113937C>T uc010rjg.2 + 0 423 c.423C>T c.(421-423)atC>atT p.I141I NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA. 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) ACGTGATCATCATGGCAGAGA 0.388000 HNSCC(65;0.19) 71 47 0 0 0.00321405 0 0 RDH8 50700 broad.mit.edu 37 19 10132089 10132089 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:10132089G>A uc002mmr.3 + 4 944 c.695G>A c.(694-696)gGa>gAa p.G232E NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA. 232 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) TGCTCCGTGGGACAGAACCCA 0.617000 47 13 0 0 0.00316338 0 0 ADCY1 107 broad.mit.edu 37 7 45743296 45743296 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:45743296G>A uc003tne.4 + 15 2687 c.2669G>A c.(2668-2670)gGg>gAg p.G890E NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 890 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) AACAACATGGGGGTGGAGTGT 0.582000 62 30 0 0 0.00428921 0 0 DUSP10 11221 broad.mit.edu 37 1 221875831 221875831 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:221875831A>G uc001hmy.2 - 3 1609 c.1372T>C c.(1372-1374)Ttc>Ctc p.F458L DUSP10_uc001hmx.2_Missense_Mutation_p.F116L|DUSP10_uc001hmz.2_Missense_Mutation_p.F116L NM_007207 NP_009138 Q9Y6W6 DUS10_HUMAN Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA. 458 JNK cascade|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(131;0.0103) TCTTCCTCGAACTCTAGCAAC 0.468000 120 40 0 0 0.00285205 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200818296 200818296 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:200818296C>T uc001gvl.3 + 11 2702 c.2432C>T c.(2431-2433)cCt>cTt p.P811L CAMSAP2_uc001gvk.3_Missense_Mutation_p.P800L|CAMSAP2_uc001gvm.3_Missense_Mutation_p.P784L NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA. 811 cytoplasm|microtubule protein binding GGGATATCTCCTCTACGAGAG 0.418000 61 34 0 0 0.00285205 0 0 DAPK2 23604 broad.mit.edu 37 15 64275775 64275775 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:64275775C>T uc002amr.3 - 2 302 c.271G>A c.(271-273)Gac>Aac p.D91N DAPK2_uc010uim.2_Intron|DAPK2_uc010bgu.1_Missense_Mutation_p.D81N NM_014326 NP_055141 Q9UIK4 DAPK2_HUMAN Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA. 91 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) TCATAGACGTCGTGCAGCGTG 0.672000 21 41 0 0 0.00361006 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882449 228882449 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:228882449C>T uc002vpq.2 - 6 3168 c.3121G>A c.(3121-3123)Gaa>Aaa p.E1041K SPHKAP_uc002vpp.2_Missense_Mutation_p.E1041K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1041K NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 1041 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) GCTGCCACTTCATTGGCAAAA 0.512000 70 24 0 0 0.000720815 0 0 NEB 4703 broad.mit.edu 37 2 152534213 152534213 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:152534213C>T uc021vrb.1 - 31 3669 c.3640G>A c.(3640-3642)Gaa>Aaa p.E1214K NEB_uc002txu.3_Missense_Mutation_p.E1214K|NEB_uc021vrc.1_Missense_Mutation_p.E1214K|NEB_uc010fnx.3_Missense_Mutation_p.E1214K|NEB_uc021vrd.1_Missense_Mutation_p.E1214K NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 1214 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle p.E1214K(5) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTAACTTTTTCGACGTCGAGA 0.453000 201 97 0 0 0.00361006 0 0 MCU 90550 broad.mit.edu 37 10 74631160 74631160 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:74631160C>T uc001jtc.3 + 5 704 c.683C>T c.(682-684)gCt>gTt p.A228V MCU_uc009xqp.1_Non-coding_Transcript|MCU_uc009xqq.1_Non-coding_Transcript|MCU_uc010qjy.1_Non-coding_Transcript|MCU_uc009xqr.3_Missense_Mutation_p.A207V|MCU_uc001jtd.3_Missense_Mutation_p.A179V NM_138357 NP_612366 Q8NE86 MCU_HUMAN Homo sapiens mitochondrial calcium uniporter (MCU), nuclear gene encoding mitochondrial protein, mRNA. 228 elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 14 AGCAGAAAAGCTGAGAAGAGG 0.448000 84 71 0 0 0.00361006 0 0 OR13C3 138803 broad.mit.edu 37 9 107298427 107298427 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:107298427G>A uc004bcb.1 - 0 668 c.668C>T c.(667-669)tCc>tTc p.S223F NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA. 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 AATATTGAGGGATATATCAGC 0.393000 89 25 0 0 0.000720815 0 0 BTBD11 121551 broad.mit.edu 37 12 108013935 108013935 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:108013935G>A uc001tmk.1 + 10 3146 c.2625G>A c.(2623-2625)gcG>gcA p.A875A BTBD11_uc009zut.1_Silent_p.A756A|BTBD11_uc001tmj.3_Silent_p.A875A|BTBD11_uc001tml.1_Silent_p.A412A NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA. 875 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TCCTGAAAGCGAGCAAGGTAT 0.507000 41 18 0 0 0.00121646 0 0 C12orf36 283422 broad.mit.edu 37 12 13526287 13526287 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:13526287G>A uc001rbs.2 - 2 520 c.268C>T c.(268-270)Ctg>Ttg p.L90L Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA. p.P89L(1) lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) GGATTTCCCAGGGGAGGAGCT 0.463000 112 54 0 0 0.00361006 0 0 SHC3 53358 broad.mit.edu 37 9 91652999 91652999 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:91652999C>T uc004aqf.2 - 10 1872 c.1565G>A c.(1564-1566)aGg>aAg p.R522K NM_016848 NP_058544 Q92529 SHC3_HUMAN Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA. 522 SH2. Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 GGTGCTCTTCCTGACCAGGAA 0.602000 93 97 0 0 0.00361006 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21355470 21355470 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:21355470G>A uc001req.4 + 9 1285 c.1181G>A c.(1180-1182)gGa>gAa p.G394E NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA. 394 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity p.G394E(2) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TTTTTAGGAGGATATATCATT 0.289000 40 18 0 0 0.00074312 0 0 MYO18B 84700 broad.mit.edu 37 22 26422462 26422462 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:26422462G>A uc003abz.1 + 42 6772 c.6522G>A c.(6520-6522)ctG>ctA p.L2174L MYO18B_uc003aca.1_Silent_p.L2055L|MYO18B_uc010guy.1_Silent_p.L2056L|MYO18B_uc010guz.1_Silent_p.L2054L|MYO18B_uc011aka.1_Silent_p.L1328L|MYO18B_uc011akb.1_Silent_p.L1687L|MYO18B_uc010gva.1_Silent_p.L157L|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2174 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CATTGGCACTGAGCAGAGCCC 0.517000 115 50 0 0 0.00361006 0 0 OR10X1 128367 broad.mit.edu 37 1 158549368 158549368 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:158549368T>C uc010pin.2 - 0 322 c.322A>G c.(322-324)Att>Gtt p.I108V NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA. 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) GTGACTGAAATGCTTCTGTCC 0.478000 52 27 0 0 0.000878237 0 0 SCRIB 23513 broad.mit.edu 37 8 144874934 144874935 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:144874934_144874935GG>AA uc003yzp.1 - 29 4127_4128 c.4120_4121CC>TT c.(4120-4122)cct>TTt p.P1374F SCRIB_uc003yzn.1_Missense_Mutation_p.P83F|SCRIB_uc003yzo.1_Missense_Mutation_p.P1374F NM_015356 NP_056171 Q14160 SCRIB_HUMAN Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA. 1374 activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction Scrib-APC-beta-catenin complex|cell-cell adherens junction protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CACGCGCTTAGGGGGGCCCTCG 0.698000 10 7 0 0 6.4e-05 0 0 EGFLAM 133584 broad.mit.edu 37 5 38431313 38431313 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:38431313G>A uc003jlc.2 + 14 2435 c.2089G>A c.(2089-2091)Gag>Aag p.E697K EGFLAM_uc003jlb.2_Missense_Mutation_p.E697K|EGFLAM_uc003jle.2_Missense_Mutation_p.E463K|EGFLAM_uc003jlf.2_Missense_Mutation_p.E63K NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 697 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) CAACTGGCACGAGCTTCGTGT 0.448000 39 11 0 0 0.00316338 0 0 ARL6IP1 23204 broad.mit.edu 37 16 18806878 18806878 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:18806878G>A uc002dfl.1 - 3 385 c.316C>T c.(316-318)Cat>Tat p.H106Y ARL6IP1_uc010van.1_Missense_Mutation_p.H77Y|ARL6IP1_uc010bvz.1_Intron NM_015161 NP_055976 Q15041 AR6P1_HUMAN Homo sapiens ADP-ribosylation factor-like 6 interacting protein 1 (ARL6IP1), mRNA. 106 integral to membrane protein binding breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1) 11 CAAATTTCATGGAATCTTTGC 0.378000 29 15 0 0 0.00316338 0 0 NLRC4 58484 broad.mit.edu 37 2 32475575 32475575 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:32475575C>T uc002roi.3 - 3 1619 c.1358G>A c.(1357-1359)cGa>cAa p.R453Q NLRC4_uc021vfq.1_Missense_Mutation_p.R453Q|NLRC4_uc002roj.2_Missense_Mutation_p.R453Q|NLRC4_uc010ezt.2_Intron NM_001199138 NP_001186067 Q9NPP4 NLRC4_HUMAN Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA. 453 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity p.R453*(1)|p.R453Q(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GCTGAGTCTTCGTCCTGCTGT 0.448000 56 22 0 0 0.00127121 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658837 72658837 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:72658837G>A uc003txs.1 - 12 1075 c.147C>T c.(145-147)ttC>ttT p.F49F FKBP6_uc003twz.2_Intron Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA. gtacttccacgaagaaaaatg 0.413000 151 59 0 0 0.00361006 0 0 TMC5 79838 broad.mit.edu 37 16 19460898 19460898 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:19460898C>T uc002dgc.4 + 4 1742 c.993C>T c.(991-993)gtC>gtT p.V331V TMC5_uc010vaq.2_Silent_p.V331V|TMC5_uc002dgb.4_Silent_p.V331V|TMC5_uc010var.2_Silent_p.V331V NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 331 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GTGGTCCTGTCCATGCTTATG 0.478000 100 34 0 0 0.00428921 0 0 MYH1 4619 broad.mit.edu 37 17 10402058 10402058 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10402058C>T uc002gmo.3 - 29 4160 c.4066G>A c.(4066-4068)Gaa>Aaa p.E1356K AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1356 muscle myosin complex|myofibril|myosin filament ATP binding|actin 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 GCCTTGGCTTCCTGCTCCTCC 0.567000 43 42 0 0 0.00285205 0 0 SPTLC2 9517 broad.mit.edu 37 14 78063594 78063594 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:78063594G>A uc001xub.3 - 1 450 c.262C>T c.(262-264)Cga>Tga p.R88* NM_004863 NP_004854 O15270 SPTC2_HUMAN Homo sapiens serine palmitoyltransferase, long chain base subunit 2 (SPTLC2), mRNA. 88 integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5) 19 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) AAGAAATCTCGAAGATATCCA 0.383000 15 15 0 0 0.00316338 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188937 32188937 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32188937G>A uc003obb.3 - 3 756 c.617C>T c.(616-618)cCc>cTc p.P206L NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.P206L NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 206 EGF-like 5; calcium-binding (Potential). P -> L (in dbSNP:rs2071282). Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|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 GGTGCCTTTGGGGCAGGGTCC 0.652000 304 97 0 0 0.00361006 0 0 CCDC116 164592 broad.mit.edu 37 22 21988447 21988447 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:21988447T>C uc002zve.3 + 2 302 c.209T>C c.(208-210)tTt>tCt p.F70S CCDC116_uc011aih.1_Missense_Mutation_p.F70S NM_152612 NP_689825 Q8IYX3 CC116_HUMAN Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA. 70 endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) CCTCAGCCCTTTGGCCACTTT 0.622000 67 28 0 0 0.0024448 0 0 SLX4 84464 broad.mit.edu 37 16 3633257 3633257 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:3633257G>A uc002cvp.2 - 13 5621 c.4994C>T c.(4993-4995)cCc>cTc p.P1665L NM_032444 NP_115820 Q8IY92 SLX4_HUMAN Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. 1665 Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1. 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 TTGATGTCGGGGGCCCTTGGT 0.622000 Direct reversal of damage 43 11 0 0 0.000673444 0 0 GALNT11 63917 broad.mit.edu 37 7 151797962 151797962 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:151797962C>T uc010lqg.1 + 2 605 c.375C>T c.(373-375)gaC>gaT p.D125D GALNT11_uc011kvm.1_Silent_p.D44D|GALNT11_uc003wku.2_Silent_p.D125D|GALNT11_uc003wkv.1_Silent_p.D125D|GALNT11_uc011kvn.1_Intron NM_022087 NP_071370 Q8NCW6 GLT11_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA. 125 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) TTATCAGTGACCGCTTGGGCT 0.408000 89 30 0 0 0.00178596 0 0 LRP1B 53353 broad.mit.edu 37 2 141665489 141665489 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:141665489C>T uc002tvj.1 - 21 4449 c.3477G>A c.(3475-3477)ggG>ggA p.G1159G LRP1B_uc010fnl.1_Silent_p.G341G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 1159 LDL-receptor class A 10. 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) AATCCTTTTTCCCATTGCAGA 0.443000 TSP Lung(27;0.18) 134 57 0 0 0.00361006 0 0 ST18 9705 broad.mit.edu 37 8 53074052 53074052 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:53074052C>T uc003xqz.2 - 8 1633 c.1477G>A c.(1477-1479)Gaa>Aaa p.E493K ST18_uc011ldq.1_Missense_Mutation_p.E140K|ST18_uc011ldr.1_Missense_Mutation_p.E458K|ST18_uc011lds.1_Missense_Mutation_p.E398K|ST18_uc003xra.2_Missense_Mutation_p.E493K|ST18_uc003xrb.2_Missense_Mutation_p.E493K NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 493 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TTCTCTTGTTCTTTTGACACT 0.448000 65 32 0 0 0.00283554 0 0 PTPRF 5792 broad.mit.edu 37 1 44069127 44069127 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:44069127C>T uc001cjr.3 + 14 2721 c.2381C>T c.(2380-2382)tCc>tTc p.S794F PTPRF_uc001cjs.3_Missense_Mutation_p.S785F|PTPRF_uc001cju.3_Missense_Mutation_p.S365F|PTPRF_uc009vwt.3_Missense_Mutation_p.S356F|PTPRF_uc001cjv.3_Missense_Mutation_p.S254F|PTPRF_uc001cjw.3_Missense_Mutation_p.S20F NM_002840 NP_002831 P10586 PTPRF_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA. 794 Fibronectin type-III 5. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACCACCTACTCCGTTACTGTT 0.582000 37 34 0 0 0.00375469 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153276351 153276351 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:153276351G>A uc001fbn.1 - 3 564 c.511C>T c.(511-513)Cca>Tca p.P171S NM_052891 NP_443123 Q96LB9 PGRP3_HUMAN Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA. 171 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGCATCACTGGATGTTGAGGG 0.532000 71 23 0 0 0.00332997 0 0 MSR1 4481 broad.mit.edu 37 8 16012621 16012621 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:16012621G>A uc010lsu.3 - 5 968 c.904C>T c.(904-906)Cga>Tga p.R302* MSR1_uc003wwz.3_Nonsense_Mutation_p.R284*|MSR1_uc003wxa.3_Nonsense_Mutation_p.R284*|MSR1_uc003wxb.3_Nonsense_Mutation_p.R284*|MSR1_uc011kxz.2_Nonsense_Mutation_p.R58* NM_138715 NP_619729 P21757 MSRE_HUMAN Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA. 284 Collagen-like. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) GTGGGACCTCGATCTCCTTTT 0.393000 33 18 0 0 0.000958276 0 0 SLC45A4 57210 broad.mit.edu 37 8 142228933 142228933 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:142228933G>A uc003ywd.1 - 3 961 c.653C>T c.(652-654)cCc>cTc p.P218L SLC45A4_uc003ywc.1_Missense_Mutation_p.P218L|SLC45A4_uc010meq.1_Missense_Mutation_p.P216L NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA. 269 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|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;0.0493) CAGGGCGCCGGGCTCCTCAGC 0.672000 35 18 0 0 0.00121646 0 0 BTBD1 53339 broad.mit.edu 37 15 83718904 83718904 + Silent SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:83718904A>G uc002bjn.3 - 2 788 c.585T>C c.(583-585)ctT>ctC p.L195L BTBD1_uc002bjo.3_Silent_p.L195L NM_025238 NP_079514 Q9H0C5 BTBD1_HUMAN Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA. 195 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) AAAGACTAGCAAGCTGAGGTT 0.308000 24 46 0 0 0.00361006 0 0 SERPINB12 89777 broad.mit.edu 37 18 61234211 61234211 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:61234211C>T uc010xeo.2 + 6 1245 c.1245C>T c.(1243-1245)acC>acT p.T415T SERPINB12_uc010xen.2_Silent_p.T395T NM_080474 NP_536722 Q96P63 SPB12_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA. 395 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 AAACCCAAACCATTCTCTTTT 0.453000 50 25 0 0 0.00106085 0 0 ZNF208 7757 broad.mit.edu 37 19 22156338 22156338 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:22156338C>T uc021urr.1 - 3 1647 c.1498G>A c.(1498-1500)Gaa>Aaa p.E500K ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CCACATTCTTCACATTTGTAG 0.378000 54 25 0 0 0.000878237 0 0 SSH1 54434 broad.mit.edu 37 12 109210883 109210883 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:109210883A>G uc001tnm.3 - 4 419 c.332T>C c.(331-333)gTg>gCg p.V111A SSH1_uc010sxg.2_Missense_Mutation_p.V122A|SSH1_uc001tnn.4_Missense_Mutation_p.V111A|SSH1_uc001tno.1_Missense_Mutation_p.V38A NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA. 111 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GCTGCTGTACACCACCACCAT 0.597000 46 21 0 0 0.00121646 0 0 AKAP6 9472 broad.mit.edu 37 14 33069899 33069899 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:33069899G>A uc001wrq.3 + 6 2801 c.2631G>A c.(2629-2631)cgG>cgA p.R877R AKAP6_uc010aml.3_Silent_p.R874R NM_004274 NP_004265 Q13023 AKAP6_HUMAN Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA. 877 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AAATCAAACGGCAGCACAGCT 0.532000 24 22 0 0 0.00332997 0 0 SVEP1 79987 broad.mit.edu 37 9 113251984 113251984 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:113251984C>T uc010mtz.3 - 8 2213 c.1876G>A c.(1876-1878)Gca>Aca p.A626T SVEP1_uc010mua.1_Missense_Mutation_p.A626T|SVEP1_uc004beu.2_Missense_Mutation_p.A626T NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 626 HYR 1. 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 AGGTCAGTTGCCGTGTATACG 0.438000 55 21 0 0 0.00152264 0 0 DARC 2532 broad.mit.edu 37 1 159176200 159176200 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:159176200G>A uc001ftp.4 + 0 1152 c.977G>A c.(976-978)gGa>gAa p.G326E DARC_uc001fto.3_Missense_Mutation_p.G324E NM_001122951 NP_001116423 Q16570 DUFFY_HUMAN Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA. 324 S -> F (in dbSNP:rs17851570). defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) CTCCCTGAAGGATGGTCTTCT 0.562000 180 84 0 0 0.00361006 0 0 PKHD1 5314 broad.mit.edu 37 6 51890234 51890234 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:51890234G>A uc003pah.1 - 31 4650 c.4374C>T c.(4372-4374)tcC>tcT p.S1458S PKHD1_uc003pai.3_Silent_p.S1458S NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 1458 IPT/TIG 9. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TGACGTTCAGGGAGAAGGAAG 0.522000 28 16 0 0 0.00316338 0 0 CYP2C8 1558 broad.mit.edu 37 10 96829085 96829085 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:96829085C>T uc001kkb.3 - 0 170 c.75G>A c.(73-75)agG>agA p.R25R CYP2C8_uc010qoa.2_5'UTR|CYP2C8_uc010qoc.2_5'UTR|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_5'UTR|CYP2C8_uc021pwl.1_5'UTR|CYP2C8_uc010qod.1_5'UTR NM_000770 NP_000761 P10632 CP2C8_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA. 25 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) GCTTCCTTCTCCTACAGCTCT 0.433000 16 20 0 0 0.00121646 0 0 TAT 6898 broad.mit.edu 37 16 71610138 71610138 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:71610138C>T uc002fap.2 - 1 280 c.181G>A c.(181-183)Gac>Aac p.D61N TAT_uc002faq.3_Missense_Mutation_p.D61N|TAT_uc002far.3_Missense_Mutation_p.D61N NM_000353 NP_000344 P17735 ATTY_HUMAN Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA. 61 2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) TTCATGTTGTCCACAATGGCT 0.498000 8 10 0 0 0.000978159 0 0 FAM75A6 389730 broad.mit.edu 37 9 43628658 43628658 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:43628658G>A uc011lrb.2 - 2 313 c.284C>T c.(283-285)tCg>tTg p.S95L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA. 95 integral to membrane breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1) 54 AAGAAGGTCCGAAGTCTCCTC 0.612000 91 42 0 0 0.00361006 0 0 MUM1L1 139221 broad.mit.edu 37 X 105449605 105449605 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:105449605A>T uc022cca.1 + 0 180 c.180A>T c.(178-180)aaA>aaT p.K60N MUM1L1_uc004emg.2_Missense_Mutation_p.K60N|MUM1L1_uc004emf.2_Missense_Mutation_p.K60N NM_001171020 NP_001164491 Q5H9M0 MUML1_HUMAN Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA. 60 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 TCCTAAATAAATCTCAAATTG 0.388000 9 11 0 0 0.000978159 0 0 ANXA10 11199 broad.mit.edu 37 4 169099070 169099070 + Silent SNP G A A rs145284874 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:169099070G>A uc003irm.3 + 7 728 c.564G>A c.(562-564)acG>acA p.T188T ANXA10_uc003irn.3_Silent_p.T60T NM_007193 NP_009124 Q9UJ72 ANX10_HUMAN Homo sapiens annexin A10 (ANXA10), mRNA. 188 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) AGCAGAAGACGGGGGAGCACA 0.502000 49 26 0 0 0.00127121 0 0 VSTM1 284415 broad.mit.edu 37 19 54545553 54545553 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:54545553G>A uc002qcw.4 - 4 641 c.465C>T c.(463-465)atC>atT p.I155I VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Silent_p.I67I|VSTM1_uc002qcx.4_Intron|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Silent_p.I35I NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA. 155 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) ATCTGTAGATGATGAAGACTG 0.502000 24 8 0 0 0.00307968 0 0 CYR61 3491 broad.mit.edu 37 1 86046709 86046709 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:86046709C>T uc001dle.3 + 0 266 c.42C>T c.(40-42)acC>acT p.T14T DDAH1_uc001dlc.3_5'Flank|CYR61_uc021opf.1_5'Flank NM_001554 NP_001545 O00622 CYR61_HUMAN Homo sapiens cysteine-rich, angiogenic inducer, 61 (CYR61), mRNA. 14 cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of ERK1 and ERK2 cascade|regulation of cell growth|wound healing, spreading of cells extracellular region heparin binding|insulin-like growth factor binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1) 5 all cancers(265;0.0216)|Epithelial(280;0.0441) TAGTCGTCACCCTTCTCCACT 0.652000 15 5 0 0 0.00198382 0 0 MECOM 2122 broad.mit.edu 37 3 168810796 168810796 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:168810796G>A uc011bpj.1 - 13 3517 c.3114C>T c.(3112-3114)ttC>ttT p.F1038F MECOM_uc010hwk.1_Silent_p.F864F|MECOM_uc003ffj.3_Silent_p.F915F|MECOM_uc003ffi.3_Silent_p.F850F|MECOM_uc011bpi.1_Silent_p.F842F|MECOM_uc003ffn.3_Silent_p.F850F|MECOM_uc003ffk.2_Silent_p.F841F|MECOM_uc003ffl.2_Silent_p.F1001F|MECOM_uc011bpk.1_Silent_p.F850F NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TGTTCCCAATGAAATTTCGAA 0.433000 69 34 0 0 0.00375469 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21940530 21940530 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:21940530G>A uc001bev.3 - 4 362 c.344C>T c.(343-345)tCa>tTa p.S115L RAP1GAP_uc001bew.3_Missense_Mutation_p.S179L|RAP1GAP_uc001bey.3_Missense_Mutation_p.S115L|RAP1GAP_uc001bex.3_Missense_Mutation_p.S115L NM_001145657 NP_001139129 P47736 RPGP1_HUMAN Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA. 115 regulation of Ras GTPase activity|signal transduction Golgi membrane|cytosol|membrane fraction GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) GTACTTGAGTGAGAAGACAAG 0.607000 5 5 0 0 0.00116845 0 0 ASXL3 80816 broad.mit.edu 37 18 31323767 31323767 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:31323767G>A uc010dmg.1 + 11 4010 c.3955G>A c.(3955-3957)Gat>Aat p.D1319N ASXL3_uc002kxq.2_Missense_Mutation_p.D1026N NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1319 Ser-rich. 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 AAGCTCCATGGATGATAAGCA 0.453000 127 60 0 0 0.00361006 0 0 MUC16 94025 broad.mit.edu 37 19 9065348 9065348 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9065348C>T uc002mkp.3 - 2 22302 c.22098G>A c.(22096-22098)gaG>gaA p.E7366E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7368 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.E7366K(1) 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 GAGTGGTTATCTCTGAGTGTG 0.498000 40 7 0 0 0.00198382 0 0 OR4N2 390429 broad.mit.edu 37 14 20295729 20295729 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:20295729G>A uc010tkv.2 + 0 122 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCCTCCCTGGAAATTTTCTC 0.448000 84 34 0 0 0.00285205 0 0 DNAH2 146754 broad.mit.edu 37 17 7701560 7701560 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:7701560C>T uc002giu.1 + 52 8330 c.8316C>T c.(8314-8316)gcC>gcT p.A2772A NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 2772 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGAGTCTGGCCCGCCTGGCTT 0.612000 17 22 0 0 0.00332997 0 0 FLG 2312 broad.mit.edu 37 1 152280808 152280808 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:152280808C>T uc001ezu.1 - 2 6590 c.6554G>A c.(6553-6555)gGa>gAa p.G2185E NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 2185 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) ACTTCTGGATCCTGACTGCCC 0.537000 Ichthyosis 369 34 0 0 0.00361006 0 0 CHST15 51363 broad.mit.edu 37 10 125805483 125805483 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:125805483G>A uc001lhn.3 - 1 980 c.246C>T c.(244-246)ctC>ctT p.L82L CHST15_uc001lhm.3_Silent_p.L82L|CHST15_uc010que.2_Silent_p.L82L|CHST15_uc001lho.3_Silent_p.L82L NM_015892 NP_056976 Q7LFX5 CHSTF_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA. 82 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 GTCCAAAAACGAGGCTACATC 0.473000 21 21 0 0 0.00152264 0 0 COL14A1 7373 broad.mit.edu 37 8 121298182 121298182 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:121298182G>A uc003yox.3 + 32 4315 c.4050G>A c.(4048-4050)agG>agA p.R1350R COL14A1_uc003yoz.3_Silent_p.R315R NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 1350 Nonhelical region (NC4).|TSP N-terminal. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CTGAAATTAGGAAAATTTTTT 0.303000 40 15 0 0 0.00400662 0 0 DSC3 1825 broad.mit.edu 37 18 28574293 28574293 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:28574293C>T uc002kwj.4 - 15 2694 c.2539G>A c.(2539-2541)Gat>Aat p.D847N DSC3_uc002kwi.4_3'UTR NM_001941 NP_001932 Q14574 DSC3_HUMAN Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. 847 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) AGGACATAATCTTGGGATGGC 0.358000 42 21 0 0 0.00229938 0 0 LTN1 26046 broad.mit.edu 37 21 30365209 30365209 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:30365209G>A uc002ymr.2 - 0 69 c.56C>T c.(55-57)tCt>tTt p.S19F NM_015565 NP_056380 O94822 LTN1_HUMAN Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA. 0 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 GGCGGCGGAAGAGGACACCCT 0.632000 6 4 0 0 0.00024832 0 0 BLM 641 broad.mit.edu 37 15 91292892 91292893 + Missense_Mutation DNP CG AT AT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:91292892_91292893CG>AT uc002bpr.3 + 2 491_492 c.394_395CG>AT c.(394-396)cgg>ATg p.R132M BLM_uc010uqh.2_Missense_Mutation_p.R132M|BLM_uc010uqi.2_5'UTR|BLM_uc010bnx.3_Missense_Mutation_p.R132M NM_000057 NP_000048 P54132 BLM_HUMAN Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA. 132 G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray PML body|cytoplasm|lateral element|nuclear matrix|nucleolus ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) AAAGAAATCCCGGGATACTGCT 0.386000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 610 17 0 0 6.4e-05 0 0 SLC17A4 10050 broad.mit.edu 37 6 25773766 25773766 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:25773766C>T uc003nfe.3 + 7 970 c.851C>T c.(850-852)cCc>cTc p.P284L SLC17A4_uc011djx.2_Intron|SLC17A4_uc003nff.1_Missense_Mutation_p.P45L|SLC17A4_uc003nfg.3_Missense_Mutation_p.P221L|SLC17A4_uc010jqa.3_5'UTR NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA. 284 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TGGTCTCTTCCCATTAGGGCT 0.458000 59 21 0 0 0.00152264 0 0 PLOD2 5352 broad.mit.edu 37 3 145822082 145822082 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:145822082G>A uc003evr.1 - 5 1169 c.663C>T c.(661-663)acC>acT p.T221T PLOD2_uc011bnm.1_Silent_p.T166T|PLOD2_uc003evs.1_Silent_p.T221T NM_182943 NP_891988 O00469 PLOD2_HUMAN Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA. 221 protein modification process|response to hypoxia rough endoplasmic reticulum membrane L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) CTCCATTTAAGGTCTGGAAAA 0.328000 74 30 0 0 0.00428921 0 0 MYBPC2 4606 broad.mit.edu 37 19 50964891 50964891 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:50964891C>T uc002psf.2 + 24 3075 c.3024C>T c.(3022-3024)acC>acT p.T1008T NM_004533 NP_004524 Q14324 MYPC2_HUMAN Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA. 1008 Fibronectin type-III 3. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GAGTTTACACCGAGAACATCT 0.537000 OREG0025636 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 4 0 0 0.000602214 0 0 OR14C36 127066 broad.mit.edu 37 1 248512472 248512472 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:248512472G>A uc010pzl.2 + 0 396 c.396G>A c.(394-396)gtG>gtA p.V132V NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA. 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 ACTACCCTGTGATCGTGAACT 0.507000 34 19 0 0 0.00229938 0 0 SLC30A9 10463 broad.mit.edu 37 4 42037347 42037347 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:42037347C>T uc003gwl.3 + 6 812 c.666C>T c.(664-666)acC>acT p.T222T SLC30A9_uc011byx.2_5'UTR NM_006345 NP_006336 Q6PML9 ZNT9_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA. 222 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TGGGAAATACCAAGGTATGGA 0.303000 55 20 0 0 0.00278032 0 0 DNAH5 1767 broad.mit.edu 37 5 13776628 13776628 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:13776628C>T uc003jfd.2 - 54 9335 c.9293G>A c.(9292-9294)aGa>aAa p.R3098K NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3098 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) CTTCAAAGCTCTGTTTCGAAA 0.468000 Kartagener syndrome 71 31 0 0 0.00178596 0 0 ZNF317 57693 broad.mit.edu 37 19 9267379 9267379 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9267379C>T uc002mku.3 + 2 422 c.117C>T c.(115-117)ttC>ttT p.F39F ZNF317_uc010xkm.2_Missense_Mutation_p.R81C|ZNF317_uc002mkv.3_5'UTR|ZNF317_uc002mkw.3_Silent_p.F39F|ZNF317_uc002mkx.3_5'UTR|ZNF317_uc002mky.3_5'UTR NM_020933 NP_065984 Q96PQ6 ZN317_HUMAN Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA. 39 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 TGGACCTGTTCGTGTGCAGTG 0.552000 60 29 0 0 0.00283554 0 0 PTGFR 5737 broad.mit.edu 37 1 78958515 78958515 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:78958515C>T uc001din.3 + 1 353 c.87C>T c.(85-87)tcC>tcT p.S29S PTGFR_uc001dim.3_Silent_p.S29S NM_000959 NP_000950 P43088 PF2R_HUMAN Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA. 29 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity p.S29F(1) breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) ACCGGCTTTCCGTATTTTTTT 0.438000 80 25 0 0 0.00395357 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559961 44559961 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:44559961G>A uc002lcr.1 - 0 2028 c.1675C>T c.(1675-1677)Ctg>Ttg p.L559L KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 559 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CACCCTTCCAGAACAGGTTCA 0.557000 21 20 0 0 0.00121646 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870042 151870042 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:151870042G>A uc022chf.1 + 0 732 c.732G>A c.(730-732)aaG>aaA p.K244K MAGEA6_uc004ffq.1_Silent_p.K244K|MAGEA6_uc004ffr.1_Silent_p.K244K NM_175868 NP_787064 P43360 MAGA6_HUMAN Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA. 244 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) ATCCCAAGAAGCTGCTCACCC 0.562000 33 45 0 0 0.00285205 0 0 CNTN5 53942 broad.mit.edu 37 11 99827575 99827575 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:99827575C>T uc001pga.3 + 7 1215 c.711C>T c.(709-711)tcC>tcT p.S237S CNTN5_uc009ywv.2_Silent_p.S237S|CNTN5_uc001pfz.3_Silent_p.S237S|CNTN5_uc021qpb.1_Silent_p.S237S|CNTN5_uc021qpc.1_Silent_p.S163S NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 237 Ig-like C2-type 2. 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) AGTTCCCTTCCTTTGTGGCGG 0.403000 26 19 0 0 0.00278032 0 0 ZNF536 9745 broad.mit.edu 37 19 30934939 30934939 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:30934939C>T uc002nsu.1 + 1 608 c.470C>T c.(469-471)cCc>cTc p.P157L ZNF536_uc010edd.1_Missense_Mutation_p.P157L NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.P157P(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGCGAGAAGCCCTTCAAGTGC 0.652000 24 5 0 0 0.00116845 0 0 GABRA3 2556 broad.mit.edu 37 X 151532989 151532989 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:151532989G>A uc010ntk.1 - 1 294 c.54C>T c.(52-54)ttC>ttT p.F18F NM_000808 NP_000799 P34903 GBRA3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA. 18 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding p.L17I(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TATTAATCAGGAAAAGAATCC 0.453000 26 40 0 0 0.00148497 0 0 ZNF479 90827 broad.mit.edu 37 7 57187836 57187836 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:57187836C>T uc010kzo.3 - 4 1557 c.1286G>A c.(1285-1287)aGa>aAa p.R429K NM_033273 NP_150376 Q96JC4 ZN479_HUMAN Homo sapiens zinc finger protein 479 (ZNF479), mRNA. 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) AGTATGAATTCTCTTGTGGTC 0.433000 38 14 0 0 0.00188189 0 0 MYF6 4618 broad.mit.edu 37 12 81101550 81101550 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:81101550G>A uc001szf.2 + 0 143 c.52G>A c.(52-54)Gaa>Aaa p.E18K NM_002469 NP_002460 P23409 MYF6_HUMAN Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA. 18 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity p.G17G(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 CTTGGATGGGGAAAATGTTAC 0.502000 63 20 0 0 0.000958276 0 0 BRDT 676 broad.mit.edu 37 1 92442946 92442946 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:92442946T>A uc001dol.4 + 6 1383 c.965T>A c.(964-966)aTt>aAt p.I322N BRDT_uc010osz.2_Missense_Mutation_p.I326N|BRDT_uc001dok.4_Missense_Mutation_p.I322N|BRDT_uc009wdf.3_Missense_Mutation_p.I249N|BRDT_uc010otb.2_Missense_Mutation_p.I276N|BRDT_uc010ota.2_Missense_Mutation_p.I276N|BRDT_uc001dom.4_Missense_Mutation_p.I322N NM_001242805 NP_001229734 Q58F21 BRDT_HUMAN Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA. 322 Bromo 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity p.T321A(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) CTTGGAACTATTAAGGTAAAT 0.318000 52 36 0 0 0.00375469 0 0 SEC14L4 284904 broad.mit.edu 37 22 30887684 30887684 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:30887684G>A uc003aid.2 - 10 1057 c.957C>T c.(955-957)ttC>ttT p.F319F SEC14L4_uc011akz.1_Silent_p.F319F|SEC14L4_uc003aie.2_Silent_p.F304F|SEC14L4_uc003aif.2_Silent_p.F265F NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA. 319 GOLD. 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) TGGTCTTCAGGAAAACCCCAA 0.627000 65 15 0 0 0.000958276 0 0 RAB6C 84084 broad.mit.edu 37 2 130738127 130738127 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:130738127G>A uc002tpx.1 + 0 893 c.439G>A c.(439-441)Ggg>Agg p.G147R LOC100131320_uc002tpw.1_5'Flank NM_032144 NP_115520 Q9H0N0 RAB6C_HUMAN Homo sapiens RAB6C, member RAS oncogene family (RAB6C), mRNA. 147 protein transport|response to drug|small GTPase mediated signal transduction GTP binding|GTPase activity large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 5 Colorectal(110;0.1) GAAAGCCAAAGGGCTGAATGT 0.453000 143 56 0 0 0.00361006 0 0 GRM4 2914 broad.mit.edu 37 6 34101135 34101135 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:34101135C>T uc003oir.4 - 0 502 c.139G>A c.(139-141)Ggg>Agg p.G47R GRM4_uc011dsn.2_Missense_Mutation_p.G47R|GRM4_uc010jvh.3_Missense_Mutation_p.G47R|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_5'UTR NM_000841 NP_000832 Q14833 GRM4_HUMAN Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA. 47 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GTGATGTCCCCATCTATGCGG 0.607000 36 11 0 0 0.00136819 0 0 LOC283788 283788 broad.mit.edu 37 GL000219.1 83245 83245 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrGL000219.1:83245T>C uc022brb.1 - 3 422 c.109A>G c.(109-111)Agt>Ggt p.S37G LOC283788_uc011mfq.2_Non-coding_Transcript Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA. GCTGTTTTACTTTTTGCTTCT 0.363000 14 3 0 0 0.00024832 0 0 SLC6A4 6532 broad.mit.edu 37 17 28543189 28543189 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:28543189G>A uc002hey.4 - 6 1427 c.883C>T c.(883-885)Ctg>Ttg p.L295L NM_001045 NP_001036 P31645 SC6A4_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA. 295 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) CTCACCAGCAGGACAGAAAGG 0.557000 37 39 0 0 0.00195071 0 0 RAB3IP 117177 broad.mit.edu 37 12 70206777 70206777 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:70206777C>T uc001svp.3 + 9 1759 c.1312C>T c.(1312-1314)Cga>Tga p.R438* RAB3IP_uc001svm.3_Nonsense_Mutation_p.R422*|RAB3IP_uc001svn.3_Silent_p.F388F|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Silent_p.F404F|RAB3IP_uc001svs.3_Non-coding_Transcript|RAB3IP_uc001svt.3_Nonsense_Mutation_p.R216* NM_175623 NP_001019818 Q96QF0 RAB3I_HUMAN Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA. 438 Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) TACATACATTCGATACATTCA 0.333000 89 41 0 0 0.00361006 0 0 CD93 22918 broad.mit.edu 37 20 23064997 23064997 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:23064997C>T uc002wsv.3 - 0 1981 c.1833G>A c.(1831-1833)gcG>gcA p.A611A NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN Homo sapiens CD93 molecule (CD93), mRNA. 611 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) CCTCCCTCTTCGCTCTCCGCT 0.572000 85 41 0 0 0.00170553 0 0 AKNA 80709 broad.mit.edu 37 9 117143571 117143571 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:117143571G>A uc004biq.3 - 0 178 c.43C>T c.(43-45)Ctg>Ttg p.L15L AKNA_uc004bir.3_Silent_p.L15L|AKNA_uc004bis.3_Silent_p.L15L|AKNA_uc010mve.2_Intron|AKNA_uc004biu.1_5'UTR|AKNA_uc004biv.1_Silent_p.L15L|AKNA_uc004biw.1_Silent_p.L15L NM_030767 NP_110394 Q7Z591 AKNA_HUMAN Homo sapiens AT-hook transcription factor (AKNA), mRNA. 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 CCCTTCCCCAGGCCAGGCTCA 0.632000 14 4 0 0 0.00024832 0 0 PCK2 5106 broad.mit.edu 37 14 24567503 24567503 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:24567503C>T uc001wlt.3 + 2 499 c.367C>T c.(367-369)Ccg>Tcg p.P123S NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Missense_Mutation_p.P123S|PCK2_uc010tnw.2_5'UTR|PCK2_uc010ald.2_5'UTR|PCK2_uc010ale.2_5'UTR|PCK2_uc010tnx.2_5'UTR|PCK2_uc001wlu.4_5'UTR NM_004563 NP_004554 Q16822 PCKGM_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 123 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) GGTACAACTCCCGCCTGGTGG 0.617000 10 7 0 0 0.00307968 0 0 GPN2 54707 broad.mit.edu 37 1 27216268 27216268 + Missense_Mutation SNP A C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:27216268A>C uc001bnd.1 - 0 602 c.320T>G c.(319-321)tTc>tGc p.F107C BC016143_uc021ojq.1_Intron NM_018066 NP_060536 Q9H9Y4 GPN2_HUMAN Homo sapiens GPN-loop GTPase 2 (GPN2), mRNA. 107 GTP binding endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 GTCGAAGAGGAAGTAGTGGCC 0.662000 50 44 0 0 0.00361006 0 0 GALNT6 11226 broad.mit.edu 37 12 51753032 51753032 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:51753032G>A uc001ryk.2 - 6 1477 c.1252C>T c.(1252-1254)Ccc>Tcc p.P418S GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.P418S|GALNT6_uc001ryj.1_5'UTR NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA. 418 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 GTGCCCTTGGGGAAGGTGTGG 0.557000 112 41 0 0 0.00285205 0 0 L32131 0 broad.mit.edu 37 17 58511054 58511054 + RNA SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:58511054G>A uc002iyr.1 - 0 c.2304C>T Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12. GTTGTCAAATGATCCTTTATT 0.388000 12 4 0 0 0.000602214 0 0 NELL1 4745 broad.mit.edu 37 11 21556021 21556021 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:21556021G>A uc009yid.3 + 16 1984 c.1831G>A c.(1831-1833)Gac>Aac p.D611N NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.D583N|NELL1_uc001mqf.3_Intron|NELL1_uc010rdo.2_Missense_Mutation_p.D526N|NELL1_uc001mqh.3_Missense_Mutation_p.M192I NM_006157 NP_006148 Q92832 NELL1_HUMAN Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA. 583 EGF-like 6; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 CGGTTTCCATGACGATGGGAC 0.527000 42 20 0 0 0.00332997 0 0 PRSS38 339501 broad.mit.edu 37 1 228033728 228033728 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:228033728G>A uc001hrh.3 + 4 800 c.800G>A c.(799-801)cGa>cAa p.R267Q NM_183062 NP_898885 A1L453 PRS38_HUMAN Homo sapiens protease, serine, 38 (PRSS38), mRNA. 267 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 AGCTGGGGCCGAGGCTGCTCC 0.512000 30 18 0 0 0.00074312 0 0 KCNIP1 30820 broad.mit.edu 37 5 169931626 169931626 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:169931626G>A uc003mas.3 + 0 579 c.50G>A c.(49-51)cGa>cAa p.R17Q KCNIP1_uc003map.3_Intron|KCNIP1_uc003mat.3_Missense_Mutation_p.R17Q|KCNIP1_uc010jjp.3_5'UTR|KCNIP1_uc010jjq.3_Missense_Mutation_p.R17Q NM_001034837 NP_001030009 Q9NZI2 KCIP1_HUMAN Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA. 17 detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAACAAAGGCGACCCTCGAAA 0.632000 43 16 0 0 0.00400662 0 0 IL4R 3566 broad.mit.edu 37 16 27363934 27363934 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:27363934C>T uc002don.3 + 6 829 c.587C>T c.(586-588)tCc>tTc p.S196F IL4R_uc002dom.3_Missense_Mutation_p.S196F|IL4R_uc002dop.4_Missense_Mutation_p.S181F|IL4R_uc010bxy.3_Missense_Mutation_p.S196F|IL4R_uc002doo.3_Missense_Mutation_p.S36F NM_000418 NP_000409 P24394 IL4RA_HUMAN Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA. 196 Fibronectin type-III. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity p.S196F(4) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 TCTGGGATTTCCTACAGGGCA 0.557000 76 27 0 0 0.0024448 0 0 PBX1 5087 broad.mit.edu 37 1 164790786 164790786 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:164790786C>T uc001gct.3 + 7 1586 c.1123C>T c.(1123-1125)Cgc>Tgc p.R375C PBX1_uc010pku.2_Missense_Mutation_p.R375C|PBX1_uc001gcs.3_Missense_Mutation_p.S337L|PBX1_uc010pkv.2_Missense_Mutation_p.R292C|PBX1_uc010pkw.1_Missense_Mutation_p.R265C NM_002585 NP_002576 P40424 PBX1_HUMAN Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA. 375 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 GGATACCCTTCGCCATGTTAT 0.498000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 51 23 0 0 0.00127121 0 0 RASA1 5921 broad.mit.edu 37 5 86658439 86658439 + Missense_Mutation SNP G C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:86658439G>C uc003kiw.3 + 9 1603 c.1404G>C c.(1402-1404)aaG>aaC p.K468N RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Missense_Mutation_p.K291N|RASA1_uc011ctv.2_Missense_Mutation_p.K301N|RASA1_uc011ctw.2_Missense_Mutation_p.K302N|RASA1_uc010jaw.3_Missense_Mutation_p.K290N NM_002890 NP_002881 P20936 RASA1_HUMAN Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA. 468 cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis cytosol|intrinsic to internal side of plasma membrane GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) GTAAAACAAAGGATGCCTTTT 0.299000 104 28 0 0 0.000720815 0 0 ZNF785 146540 broad.mit.edu 37 16 30596534 30596534 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:30596534C>T uc002dyw.2 - 1 403 c.243G>A c.(241-243)gtG>gtA p.V81V ZNF785_uc002dyv.2_Silent_p.V81V|ZNF785_uc010vez.2_Silent_p.V46V NM_152458 NP_689671 A8K8V0 ZN785_HUMAN Homo sapiens zinc finger protein 785 (ZNF785), mRNA. 81 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 CTTCTCCTTCCACCCACGAGA 0.592000 18 7 0 0 0.00198382 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802381 185802381 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:185802381C>T uc002uph.3 + 3 2852 c.2258C>T c.(2257-2259)gCt>gTt p.A753V NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 753 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 CAGAATCAGGCTGTTAAAAGA 0.333000 56 21 0 0 0.00152264 0 0 GRIA1 2890 broad.mit.edu 37 5 153078581 153078581 + Missense_Mutation SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:153078581G>T uc011dcy.2 + 9 1457 c.1430G>T c.(1429-1431)cGa>cTa p.R477L GRIA1_uc003lva.4_Missense_Mutation_p.R467L|GRIA1_uc003luy.4_Missense_Mutation_p.R467L|GRIA1_uc003luz.4_Missense_Mutation_p.R372L|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R387L|GRIA1_uc011dcx.2_Missense_Mutation_p.R398L|GRIA1_uc011dcz.2_Missense_Mutation_p.R477L|GRIA1_uc010jia.1_Missense_Mutation_p.R447L NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 467 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.R467Q(2) NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TACGGAGCCCGAGACCCTGAC 0.562000 20 6 0.00198382 0.00617672 0.00198382 1 0 TTC39C 125488 broad.mit.edu 37 18 21705489 21705490 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:21705489_21705490CC>TT uc002kuw.3 + 9 1847_1848 c.1395_1396CC>TT c.(1393-1398)ttcccc>ttTTcc p.P466S TTC39C_uc002kuu.3_Missense_Mutation_p.P405S NM_001135993 NP_694943 Q8N584 TT39C_HUMAN Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA. 466 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 ACTGTTCCTTCCCCAACCTGCA 0.455000 39 18 0 0 6.4e-05 0 0 DSCR6 53820 broad.mit.edu 37 21 38390383 38390383 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:38390383G>A uc002yvv.3 + 3 659 c.449G>A c.(448-450)gGa>gAa p.G150E DSCR6_uc011aec.2_Missense_Mutation_p.E37K|DSCR6_uc010gnd.3_Missense_Mutation_p.E37K NM_018962 NP_061835 P57055 DSCR6_HUMAN Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA. 150 nucleus NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(46;0.0632) GGCCCAGGGGGAAAGGGCAGA 0.637000 21 11 0 0 0.000978159 0 0 GMEB1 10691 broad.mit.edu 37 1 29029018 29029018 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:29029018C>T uc001bra.3 + 6 839 c.697C>T c.(697-699)Ctc>Ttc p.L233F GMEB1_uc001bqz.3_Missense_Mutation_p.L223F|GMEB1_uc001brb.3_Missense_Mutation_p.L223F NM_006582 NP_006573 Q9Y692 GMEB1_HUMAN Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA. 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|metal ion binding|transcription coactivator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4) 11 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) GAACTCAGCTCTCACCGCTGC 0.502000 46 15 0 0 0.00400662 0 0 ZNF235 9310 broad.mit.edu 37 19 44791596 44791596 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:44791596G>A uc002oza.4 - 4 2095 c.1992C>T c.(1990-1992)ttC>ttT p.F664F ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Silent_p.F660F NM_004234 NP_004225 Q14590 ZN235_HUMAN Homo sapiens zinc finger protein 235 (ZNF235), mRNA. 664 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) CACTCCAACTGAATTCTTTCC 0.483000 42 25 0 0 0.00278032 0 0 SLC37A1 54020 broad.mit.edu 37 21 43984842 43984842 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:43984842C>T uc002zbj.3 + 13 2142 c.1160C>T c.(1159-1161)tCa>tTa p.S387L SLC37A1_uc002zbi.3_Missense_Mutation_p.S387L NM_018964 NP_061837 P57057 GLPT_HUMAN Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 1 (SLC37A1), mRNA. 387 carbohydrate transport|transmembrane transport integral to membrane breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3) 15 GGTGTGATCTCAGACCGACTG 0.667000 37 9 0 0 0.000978159 0 0 TNR 7143 broad.mit.edu 37 1 175331828 175331828 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:175331828C>T uc001gkp.1 - 11 2906 c.2825G>A c.(2824-2826)aGc>aAc p.S942N TNR_uc009wwu.1_Missense_Mutation_p.S942N NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 942 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GATGCGCTCGCTTTCCTCCCT 0.542000 44 12 0 0 0.00185496 0 0 FAM153C 653316 broad.mit.edu 37 5 177468702 177468702 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:177468702G>A uc011dge.2 + 6 349 c.142G>A c.(142-144)Gaa>Aaa p.E48K Homo sapiens family with sequence similarity 153, member C (FAM153C), non-coding RNA. kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 4 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGTGACCTGGAAGACCTGGA 0.527000 139 72 0 0 0.00361006 0 0 MRAP2 112609 broad.mit.edu 37 6 84799131 84799131 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:84799131G>A uc003pkg.4 + 3 739 c.549G>A c.(547-549)ctG>ctA p.L183L MRAP2_uc010kbo.3_Silent_p.L97L NM_138409 NP_612418 Q96G30 MRAP2_HUMAN Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA. 183 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 ATGATCTTCTGATTTCTGAAC 0.478000 46 25 0 0 0.00395357 0 0 PBX4 80714 broad.mit.edu 37 19 19675743 19675743 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:19675743G>A uc002nmy.3 - 6 1212 c.925_splice c.e6+1 p.G309_splice PBX4_uc010xra.2_Splice_Site_p.G144_splice|PBX4_uc010xqz.2_Splice_Site NM_025245 NP_079521 Q9BYU1 PBX4_HUMAN Homo sapiens pre-B-cell leukemia homeobox 4 (PBX4), transcript variant 1, mRNA. 309 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(4)|ovary(1)|prostate(3) 9 CTCACTCACCGGAGCTAGGTG 0.597000 95 38 0 0 0.00111076 0 0 ITGAL 3683 broad.mit.edu 37 16 30495274 30495274 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:30495274C>T uc002dyi.4 + 7 1025 c.849C>T c.(847-849)atC>atT p.I283I ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Silent_p.I200I|ITGAL_uc010vev.2_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 283 VWFA. T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TCCGCTACATCATCGGGGTAG 0.562000 87 44 0 0 0.00361006 0 0 RXFP1 59350 broad.mit.edu 37 4 159568290 159568290 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:159568290C>T uc003ipz.3 + 15 1956 c.1693C>T c.(1693-1695)Cct>Tct p.P565S RXFP1_uc010iqk.3_Missense_Mutation_p.P433S|RXFP1_uc011cja.2_Missense_Mutation_p.P460S|RXFP1_uc010iqo.3_Missense_Mutation_p.P517S|RXFP1_uc011cjb.2_Missense_Mutation_p.P463S|RXFP1_uc011cjc.2_Missense_Mutation_p.P484S|RXFP1_uc011cjd.2_Missense_Mutation_p.P484S|RXFP1_uc010iql.3_Missense_Mutation_p.P409S|RXFP1_uc011cje.2_Missense_Mutation_p.P592S|RXFP1_uc010iqm.3_Missense_Mutation_p.P532S|RXFP1_uc011cjf.2_Missense_Mutation_p.P434S|RXFP1_uc010iqn.3_Missense_Mutation_p.P510S NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA. 565 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) AGTATGCTTCCCTCTTCATTC 0.333000 52 25 0 0 0.000720815 0 0 CPQ 10404 broad.mit.edu 37 8 97892214 97892214 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:97892214G>A uc003yhw.3 + 3 996 c.830G>A c.(829-831)gGg>gAg p.G277E CPQ_uc010mbe.2_Missense_Mutation_p.G277E NM_016134 NP_057218 Q9Y646 PGCP_HUMAN Homo sapiens plasma glutamate carboxypeptidase (PGCP), mRNA. 277 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity GAGATCACTGGGAGCAAATAT 0.433000 103 41 0 0 0.00222228 0 0 C6 729 broad.mit.edu 37 5 41176764 41176764 + Silent SNP C T T rs146851023 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:41176764C>T uc003jmk.2 - 7 1191 c.981G>A c.(979-981)acG>acA p.T327T C6_uc003jml.1_Silent_p.T327T|RN7SK_uc021xxu.1_5'Flank NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 327 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.T327T(2) 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) CTTTAGCTTTCGTTGTGAAGT 0.338000 29 17 0 0 0.000958276 0 0 HYDIN 54768 broad.mit.edu 37 16 70926327 70926327 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:70926327G>A uc002ezr.3 - 55 9502 c.9351C>T c.(9349-9351)gtC>gtT p.V3117V NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 3118 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) AGAAAACTTGGACATTTGTGG 0.473000 71 21 0 0 0.00188189 0 0 LPHN2 23266 broad.mit.edu 37 1 82435023 82435023 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:82435023C>T uc001dit.4 + 13 2815 c.2634C>T c.(2632-2634)ttC>ttT p.F878F LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.F878F|LPHN2_uc001div.3_Silent_p.F878F|LPHN2_uc009wcd.3_Silent_p.F878F|LPHN2_uc001diw.3_Silent_p.F462F|LPHN2_uc009wce.1_5'Flank NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 891 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TCAACCTTTTCATTGCTGAAT 0.378000 94 36 0 0 0.00375469 0 0 LAMC2 3918 broad.mit.edu 37 1 183155554 183155554 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:183155554T>A uc001gqa.2 + 0 381 c.67T>A c.(67-69)Tcc>Acc p.S23T LAMC2_uc001gpz.4_Missense_Mutation_p.S23T|LAMC2_uc010poa.2_5'UTR NM_005562 NP_005553 Q13753 LAMC2_HUMAN Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA. 23 cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 CCGGGCCACCTCCAGGAGGGA 0.652000 15 9 0 0 0.000442599 0 0 GRIN3A 116443 broad.mit.edu 37 9 104449092 104449092 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:104449092C>T uc004bbp.2 - 1 1691 c.1090G>A c.(1090-1092)Gaa>Aaa p.E364K GRIN3A_uc004bbq.1_Missense_Mutation_p.E364K NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 364 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GTCCTCAGTTCCTCCACATTC 0.512000 23 17 0 0 0.00400662 0 0 SNCAIP 9627 broad.mit.edu 37 5 121786421 121786421 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:121786421G>A uc003ksw.1 + 9 2085 c.1879G>A c.(1879-1881)Gaa>Aaa p.E627K SNCAIP_uc011cwl.1_Missense_Mutation_p.E185K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E261K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E674K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E261K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E223K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E261K|SNCAIP_uc003kta.1_Missense_Mutation_p.E259K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E321K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E567K|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.E143K NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 627 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) ATTGGGAAAGGAAATCTCAGA 0.458000 30 25 0 0 0.000720815 0 0 ELOVL1 64834 broad.mit.edu 37 1 43830919 43830919 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:43830919G>A uc001cjb.3 - 2 303 c.175C>T c.(175-177)Cgt>Tgt p.R59C ELOVL1_uc001cjc.3_Non-coding_Transcript|ELOVL1_uc010okh.2_Missense_Mutation_p.R59C NM_022821 NP_073732 Q9BW60 ELOV1_HUMAN Homo sapiens ELOVL fatty acid elongase 1 (ELOVL1), transcript variant 1, mRNA. 59 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|prostate(1) 4 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ATGAAGCCACGGAGCTGGAAG 0.542000 32 28 0 0 0.001512 0 0 COPS5 10987 broad.mit.edu 37 8 67968840 67968840 + Splice_Site SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:67968840C>T uc003xxf.3 - 7 882 c.709_splice c.e7-1 p.G237_splice COPS5_uc003xxd.3_Splice_Site_p.G128_splice|COPS5_uc003xxe.3_Splice_Site_p.G192_splice|COPS5_uc010lyu.1_Splice_Site|COPS5_uc010lyv.1_Splice_Site_p.G192_splice Q92905 CSN5_HUMAN Homo sapiens COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) (COPS5), mRNA. 192 cullin deneddylation|transcription from RNA polymerase II promoter eukaryotic translation initiation factor 3 complex|signalosome metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3) 14 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153) GTTTGTAGCCCTAAACAAAAA 0.224000 37 15 0 0 0.00400662 0 0 DHX9 1660 broad.mit.edu 37 1 182856422 182856422 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:182856422C>T uc001gpr.3 + 27 3841 c.3666C>T c.(3664-3666)tcC>tcT p.S1222S DHX9_uc001gps.3_Silent_p.S1008S|DHX9_uc001gpt.3_Silent_p.S501S|DHX9_uc009wyd.3_Silent_p.S187S NM_001357 NP_001348 Q08211 DHX9_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA. 1222 NTD. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GAGGAGTTTCCCGAGGTGGCT 0.587000 40 21 0 0 0.00278032 0 0 ELAC1 55520 broad.mit.edu 37 18 48500853 48500853 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:48500853C>T uc002lez.3 + 1 185 c.79C>T c.(79-81)Cgg>Tgg p.R27W ELAC1_uc010dpe.3_Missense_Mutation_p.R27W|SMAD4_uc010xdo.1_Non-coding_Transcript NM_018696 NP_061166 Q9H777 RNZ1_HUMAN Homo sapiens elaC homolog 1 (E. coli) (ELAC1), mRNA. 27 tRNA 3'-trailer cleavage nucleus endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding kidney(1)|large_intestine(4)|prostate(1) 6 Colorectal(6;0.0269)|all_epithelial(6;0.0729) Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18) TGTGGTCCTTCGGTGTGAAGG 0.532000 36 11 0 0 0.000978159 0 0 TUSC5 286753 broad.mit.edu 37 17 1183440 1183440 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:1183440G>A uc002fsi.1 + 0 484 c.145G>A c.(145-147)Ggg>Agg p.G49R NM_172367 NP_758955 Q8IXB3 TUSC5_HUMAN Homo sapiens tumor suppressor candidate 5 (TUSC5), mRNA. 49 response to biotic stimulus integral to membrane p.S48S(1) endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GACCCTCTCGGGGCCTCTGGA 0.637000 21 20 0 0 0.00229938 0 0 IL29 282618 broad.mit.edu 37 19 39787498 39787498 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:39787498G>A uc002okv.3 + 1 322 c.225G>A c.(223-225)ggG>ggA p.G75G NM_172140 NP_742152 Q8IU54 IL29_HUMAN Homo sapiens interleukin 29 (interferon, lambda 1) (IL29), mRNA. 75 defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of MHC class I biosynthetic process|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein extracellular space|interleukin-28 receptor complex cytokine activity|interleukin-28 receptor binding endometrium(2)|lung(2) 4 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) TCTTCCCCGGGAATTGGGACC 0.577000 58 28 0 0 0.00209593 0 0 KRT33A 3883 broad.mit.edu 37 17 39502871 39502871 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:39502871G>A uc002hwk.1 - 5 963 c.926C>T c.(925-927)tCc>tTc p.S309F NM_004138 NP_004129 O76009 KT33A_HUMAN Homo sapiens keratin 33A (KRT33A), mRNA. 309 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) GGACAGCTGGGAGCTGTAGCG 0.587000 48 14 0 0 0.00185496 0 0 CEP44 80817 broad.mit.edu 37 4 175223258 175223258 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:175223258A>T uc010iro.2 + 3 463 c.158A>T c.(157-159)tAt>tTt p.Y53F CEP44_uc003its.2_Non-coding_Transcript|CEP44_uc003itr.3_Missense_Mutation_p.Y53F NM_001145314 NP_001138786 Q9C0F1 CEP44_HUMAN Homo sapiens centrosomal protein 44kDa (CEP44), transcript variant 2, mRNA. 53 centrosome|midbody|spindle pole endometrium(2)|large_intestine(4)|lung(5)|stomach(1) 12 TACTCACCTTATGTAACAGAA 0.328000 59 28 0 0 0.00283554 0 0 THUMPD2 80745 broad.mit.edu 37 2 39993247 39993247 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:39993247G>A uc002rru.2 - 4 790 c.753C>T c.(751-753)atC>atT p.I251I THUMPD2_uc002rrv.2_Non-coding_Transcript|THUMPD2_uc010ynt.1_Silent_p.I142I|THUMPD2_uc010ynu.1_Missense_Mutation_p.L316F NM_025264 NP_079540 Q9BTF0 THUM2_HUMAN Homo sapiens THUMP domain containing 2 (THUMPD2), transcript variant 1, mRNA. 251 THUMP. methyltransferase activity p.G251V(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 17 all_hematologic(82;0.248) GATGTATAAAGATCTGAAAGA 0.328000 60 23 0 0 0.00395357 0 0 C6orf58 352999 broad.mit.edu 37 6 127898383 127898383 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:127898383C>T uc003qbh.3 + 0 65 c.53C>T c.(52-54)tCc>tTc p.S18F NM_001010905 NP_001010905 Q6P5S2 CF058_HUMAN Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA. 18 extracellular region p.S18F(2) kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) TTTTCTGCTTCCTTAGCAGGG 0.502000 67 18 0 0 0.00121646 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962505 69962505 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:69962505C>T uc003heg.4 + 0 313 c.267C>T c.(265-267)ttC>ttT p.F89F UGT2B7_uc010ihq.3_Silent_p.F89F NM_001074 NP_001065 P16662 UD2B7_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA. 89 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGGAGAATTTCATCATGCAAC 0.338000 51 22 0 0 0.00152264 0 0 BLM 641 broad.mit.edu 37 15 91292731 91292732 + Missense_Mutation DNP CC AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:91292731_91292732CC>AA uc002bpr.3 + 2 330_331 c.233_234CC>AA c.(232-234)ccc>cAA p.P78Q BLM_uc010uqh.2_Missense_Mutation_p.P78Q|BLM_uc010uqi.2_5'UTR|BLM_uc010bnx.3_Missense_Mutation_p.P78Q NM_000057 NP_000048 P54132 BLM_HUMAN Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA. 78 G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray PML body|cytoplasm|lateral element|nuclear matrix|nucleolus ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) GAACCTCTACCCAACACCACAA 0.376000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 647 17 0 0 6.4e-05 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49292060 49292060 + Silent SNP T G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:49292060T>G uc001zxe.2 - 15 2637 c.2373A>C c.(2371-2373)gtA>gtC p.V791V SECISBP2L_uc001zxd.2_Silent_p.V746V|SECISBP2L_uc010bep.2_Silent_p.V553V NM_001193489 NP_001180418 Q93073 SBP2L_HUMAN Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA. 791 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 AGATTCCCACTACGCTAACAG 0.453000 24 10 0 0 0.000442599 0 0 SEMA5B 54437 broad.mit.edu 37 3 122631110 122631110 + Silent SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:122631110A>G uc003efz.1 - 18 3109 c.2805T>C c.(2803-2805)cgT>cgC p.R935R SEMA5B_uc011bju.1_Intron|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.R935R|SEMA5B_uc003efy.1_5'UTR NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA. 935 TSP type-1 4. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) TGGTGCAGGAACGGGTGCGTT 0.637000 8 4 0 0 0.000602214 0 0 ADAM18 8749 broad.mit.edu 37 8 39486947 39486947 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:39486947G>A uc003xni.3 + 6 632 c.577G>A c.(577-579)Gaa>Aaa p.E193K ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.E193K NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 193 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CATTATAGTGGAAAAAGCTTT 0.318000 59 25 0 0 0.000878237 0 0 SH3TC2 79628 broad.mit.edu 37 5 148407894 148407894 + Silent SNP G A A rs150950962 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:148407894G>A uc003lpu.3 - 10 1553 c.1401C>T c.(1399-1401)ttC>ttT p.F467F SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Silent_p.F111F|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Silent_p.F14F|SH3TC2_uc010jgx.3_Silent_p.F460F|SH3TC2_uc003lpv.1_Silent_p.F14F|SH3TC2_uc011dbz.1_Silent_p.F352F NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA. 467 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATATGGGGGCGAAGTTCTCAG 0.507000 69 38 0 0 0.000953801 0 0 KRT73 319101 broad.mit.edu 37 12 53010096 53010096 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:53010096C>T uc001sas.3 - 1 551 c.516G>A c.(514-516)ctG>ctA p.L172L NM_175068 NP_778238 Q86Y46 K2C73_HUMAN Homo sapiens keratin 73 (KRT73), mRNA. 172 Linker 1.|Rod. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TGCAGTTGTTCAGGTCCAGCT 0.572000 76 26 0 0 0.00209593 0 0 BRD8 10902 broad.mit.edu 37 5 137500762 137500762 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:137500762G>A uc003lcf.1 - 11 1427 c.1372C>T c.(1372-1374)Ccc>Tcc p.P458S BRD8_uc011cyl.2_Missense_Mutation_p.P237S|BRD8_uc021yea.1_Missense_Mutation_p.P348S|BRD8_uc003lcg.3_Missense_Mutation_p.P531S|BRD8_uc003lci.3_Missense_Mutation_p.P461S|BRD8_uc011cym.2_Missense_Mutation_p.P442S|BRD8_uc011cyn.1_Missense_Mutation_p.P417S NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA. 458 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter NuA4 histone acetyltransferase complex|mitochondrion sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TGCTCCCAGGGGCCAGGCAGG 0.537000 46 24 0 0 0.00229938 0 0 ASGR2 433 broad.mit.edu 37 17 7012104 7012104 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:7012104C>T uc002gep.3 - 2 495 c.228G>A c.(226-228)gtG>gtA p.V76V ASGR2_uc002gen.1_Silent_p.V57V|ASGR2_uc002geo.2_Silent_p.V76V|ASGR2_uc002geq.3_Silent_p.V57V|ASGR2_uc002ger.3_Silent_p.V76V|ASGR2_uc010clw.2_Silent_p.V57V|ASGR2_uc010vtl.1_Non-coding_Transcript NM_001181 NP_550434 P07307 ASGR2_HUMAN Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA. 76 cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4) 18 Antihemophilic Factor(DB00025) GGGACCCAGTCACACAGATGA 0.637000 9 9 0 0 0.000442599 0 0 FAM135B 51059 broad.mit.edu 37 8 139164781 139164781 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:139164781G>A uc003yuy.3 - 12 2108 c.1937C>T c.(1936-1938)tCt>tTt p.S646F FAM135B_uc003yux.3_Missense_Mutation_p.S547F|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S208F|FAM135B_uc003yvb.3_Missense_Mutation_p.S208F NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 646 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) CCTCAGGGTAGAACTTAGTGG 0.483000 HNSCC(54;0.14) 38 12 0 0 0.00185496 0 0 OPRK1 4986 broad.mit.edu 37 8 54142226 54142226 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:54142226G>A uc003xrh.1 - 2 1149 c.774C>T c.(772-774)ctC>ctT p.L258L OPRK1_uc022aup.1_Silent_p.L138L|OPRK1_uc003xri.1_Silent_p.L258L|OPRK1_uc010lyc.1_Silent_p.L169L NM_000912 NP_000903 P41145 OPRK_HUMAN Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA. 258 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) AGCCAGAAAGGAGCCGGACGC 0.547000 39 13 0 0 0.00244969 0 0 TCERG1 10915 broad.mit.edu 37 5 145886679 145886679 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:145886679A>G uc003lob.3 + 18 2859 c.2819A>G c.(2818-2820)gAg>gGg p.E940G TCERG1_uc003loc.3_Missense_Mutation_p.E919G NM_006706 NP_006697 O14776 TCRG1_HUMAN Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA. 940 FF 4. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGGAAAGAGAGGAGAAAGAG 0.413000 87 32 0 0 0.00283554 0 0 FAM135A 57579 broad.mit.edu 37 6 71234783 71234783 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:71234783C>T uc003pfj.3 + 12 2129 c.1996C>T c.(1996-1998)Cct>Tct p.P666S FAM135A_uc003pfi.3_Missense_Mutation_p.P470S|FAM135A_uc003pfh.3_Missense_Mutation_p.P453S|FAM135A_uc003pfl.3_Missense_Mutation_p.P333S|FAM135A_uc003pfn.3_Missense_Mutation_p.P96S|FAM135A_uc003pfo.1_Missense_Mutation_p.P37S NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA. 666 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 TAATAAAGATCCTTTCAGTGG 0.403000 42 20 0 0 0.000958276 0 0 USP29 57663 broad.mit.edu 37 19 57640915 57640915 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:57640915G>A uc002qny.3 + 3 1228 c.872G>A c.(871-873)gGa>gAa p.G291E USP29_uc021vci.1_Missense_Mutation_p.G291E NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 291 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.G291R(1) breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCCAATTTGGGAAACACCTGT 0.473000 29 15 0 0 0.00316338 0 0 EPHA6 285220 broad.mit.edu 37 3 96533487 96533487 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:96533487C>T uc010how.1 + 0 63 c.20C>T c.(19-21)cCa>cTa p.P7L EPHA6_uc003drp.1_Missense_Mutation_p.P7L NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 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 CCCTCGCCTCCAGCCGCGAGG 0.697000 23 8 0 0 0.000673444 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560508 44560508 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:44560508G>A uc002lcr.1 - 0 1481 c.1128C>T c.(1126-1128)ttC>ttT p.F376F KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 376 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TGGGCTGCTCGAATTCCTCAG 0.507000 47 21 0 0 0.00229938 0 0 C4BPA 722 broad.mit.edu 37 1 207307841 207307841 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:207307841G>A uc001hfo.3 + 8 1371 c.1177G>A c.(1177-1179)Gat>Aat p.D393N NM_000715 NP_000706 P04003 C4BPA_HUMAN Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA. 393 Sushi 6. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TTTCTATGGAGATGAGATTTC 0.423000 68 30 0 0 0.00178596 0 0 PTPDC1 138639 broad.mit.edu 37 9 96859746 96859746 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:96859746C>T uc010mrj.2 + 5 1000 c.898C>T c.(898-900)Cct>Tct p.P300S PTPDC1_uc004auf.2_Missense_Mutation_p.P246S|PTPDC1_uc004aug.2_Missense_Mutation_p.P246S|PTPDC1_uc004auh.2_Missense_Mutation_p.P298S|PTPDC1_uc010mri.2_Missense_Mutation_p.P298S NM_001253829 NP_001240758 A2A3K4 PTPC1_HUMAN Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA. 246 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 GTTTCTAACTCCTCTCCGCAA 0.453000 57 47 0 0 0.00361006 0 0 BTN1A1 696 broad.mit.edu 37 6 26508953 26508953 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:26508953A>T uc003nif.4 + 6 1189 c.1132A>T c.(1132-1134)Aat>Tat p.N378Y NM_001732 NP_001723 Q13410 BT1A1_HUMAN Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA. 378 B30.2/SPRY. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 GTGTAGGGAGAATGTGATGAA 0.557000 124 30 0 0 0.00209593 0 0 KPRP 448834 broad.mit.edu 37 1 152733215 152733215 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:152733215C>T uc001fal.1 + 1 1209 c.1151C>T c.(1150-1152)cCa>cTa p.P384L KPRP_uc021ozf.1_Missense_Mutation_p.P384L NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA. 384 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGCTTCTGTCCACCACGGCGT 0.637000 30 13 0 0 0.00244969 0 0 ASIC1 41 broad.mit.edu 37 12 50453691 50453691 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:50453691C>T uc001rvv.3 + 2 741 c.512C>T c.(511-513)tCc>tTc p.S171F ASIC1_uc001rvw.3_Missense_Mutation_p.S171F|ASIC1_uc009zln.3_5'UTR|ASIC1_uc009zlo.3_Missense_Mutation_p.S171F NM_020039 NP_064423 P78348 ACCN2_HUMAN Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA. 171 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) ATGCTGCTCTCCTGCCACTTC 0.597000 26 15 0 0 0.00074312 0 0 ANKRD27 84079 broad.mit.edu 37 19 33095330 33095330 + Splice_Site SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:33095330G>T uc002ntn.1 - 25 2650 c.2494_splice c.e25-1 p.H832_splice NM_032139 NP_115515 Q96NW4 ANR27_HUMAN Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA. 832 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) GAGGCCCCGTGCTGGAAAGAG 0.478000 9 4 5.9392e-07 1.86574e-06 0.00116845 1 0 GPC5 2262 broad.mit.edu 37 13 92560304 92560304 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:92560304T>C uc010tif.2 + 5 1760 c.1394T>C c.(1393-1395)gTt>gCt p.V465A NM_004466 NP_004457 P78333 GPC5_HUMAN Homo sapiens glypican 5 (GPC5), mRNA. 465 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CTGAAGCATGTTGTTCAGGTA 0.328000 43 13 0 0 0.00400662 0 0 OR5M11 219487 broad.mit.edu 37 11 56310057 56310057 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:56310057C>T uc010rjl.2 - 0 677 c.677G>A c.(676-678)cGg>cAg p.R226Q OR8U8_uc001nit.2_Intron NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA. 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 TGATTTGATCCGGAGGATGGC 0.493000 21 25 0 0 0.00395357 0 0 CBLL1 79872 broad.mit.edu 37 7 107399438 107399438 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:107399438C>T uc003veq.3 + 5 1621 c.1291C>T c.(1291-1293)Cag>Tag p.Q431* CBLL1_uc011kme.2_Nonsense_Mutation_p.Q310*|CBLL1_uc011kmf.2_Nonsense_Mutation_p.Q430* NM_024814 NP_079090 Q75N03 HAKAI_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA. 431 Pro-rich. cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 CTCATTACCCCAGTTCACTGA 0.522000 63 18 0 0 0.00121646 0 0 COL8A1 1295 broad.mit.edu 37 3 99513448 99513448 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:99513448G>A uc003dti.1 + 2 834 c.706G>A c.(706-708)Ggc>Agc p.G236S MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G235S|COL8A1_uc003dth.1_Missense_Mutation_p.G235S NM_020351 NP_065084 P27658 CO8A1_HUMAN Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA. 235 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 AGGACCTCAAGGCCTTCGGGG 0.622000 71 27 0 0 0.00209593 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24890298 24890298 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:24890298G>A uc001upj.3 + 1 218 c.157G>A c.(157-159)Ggc>Agc p.G53S SPATA13_uc001upe.3_Non-coding_Transcript NM_178540 NP_848635 P0C862 C1T9A_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA. 53 Collagen-like 1. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) GGGTGACAAAGGCGATGCAGG 0.542000 29 12 0 0 0.00074312 0 0 PDLIM5 10611 broad.mit.edu 37 4 95494539 95494539 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:95494539C>T uc003hti.3 + 3 437 c.286C>T c.(286-288)Caa>Taa p.Q96* PDLIM5_uc003htf.3_Nonsense_Mutation_p.Q96*|PDLIM5_uc003htg.3_Nonsense_Mutation_p.Q96*|PDLIM5_uc011cdx.1_Nonsense_Mutation_p.Q96*|PDLIM5_uc003htj.3_5'UTR|PDLIM5_uc003htk.3_Nonsense_Mutation_p.Q96*|PDLIM5_uc011cdy.2_5'UTR|PDLIM5_uc003hth.3_Nonsense_Mutation_p.Q96* NM_006457 NP_006448 Q96HC4 PDLI5_HUMAN Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA. 96 regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) GGTTCCTGTTCAAAAGGTGTG 0.383000 74 33 0 0 0.00375469 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123201852 123201852 + Missense_Mutation SNP C G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:123201852C>G uc004bkf.3 - 23 3728 c.3547G>C c.(3547-3549)Gtg>Ctg p.V1183L CDK5RAP2_uc010mvi.3_Missense_Mutation_p.V192L|CDK5RAP2_uc004bke.3_Missense_Mutation_p.V468L|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.V1183L|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.V448L|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.V448L|CDK5RAP2_uc011lya.2_Missense_Mutation_p.V448L|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.V953L|CDK5RAP2_uc004bki.3_Missense_Mutation_p.V950L NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA. 1183 Interaction with MAPRE1. G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 AGGATTTTCACGTGTTTCACG 0.522000 OREG0019438 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 60 5 0 0 0.000602214 0 0 PDK3 5165 broad.mit.edu 37 X 24523415 24523415 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:24523415G>A uc004dbg.3 + 5 824 c.595_splice c.e5+1 p.D199_splice PDK3_uc004dbh.3_Splice_Site_p.D199_splice NM_005391 NP_005382 Q15120 PDK3_HUMAN Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 199 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TGTGGTGAAAGGTAAGGAGAC 0.458000 13 22 0 0 0.00395357 0 0 CD96 10225 broad.mit.edu 37 3 111297913 111297913 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:111297913C>T uc003dxw.3 + 4 801 c.631C>T c.(631-633)Cac>Tac p.H211Y CD96_uc003dxv.3_Missense_Mutation_p.H195Y|CD96_uc003dxx.3_Missense_Mutation_p.H195Y|CD96_uc010hpy.1_Missense_Mutation_p.H195Y NM_198196 NP_937839 P40200 TACT_HUMAN Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA. 211 Ig-like V-type 2. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 CTCCCAAAATCACCTCATCAG 0.438000 Opitz Trigonocephaly syndrome 35 24 0 0 0.000878237 0 0 LPIN1 23175 broad.mit.edu 37 2 11922483 11922484 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:11922483_11922484CC>TT uc010yjm.2 + 8 1314_1315 c.1261_1262CC>TT c.(1261-1263)cct>TTt p.P421F LPIN1_uc010yjn.2_Missense_Mutation_p.P336F|LPIN1_uc002rbt.3_Missense_Mutation_p.P336F|LPIN1_uc002rbs.3_Missense_Mutation_p.P372F NM_145693 NP_663731 Q14693 LPIN1_HUMAN Homo sapiens lipin 1 (LPIN1), mRNA. 336 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) CCAGAACAAGCCTCAGACAGAA 0.510000 36 14 0 0 6.4e-05 0 0 SYT14 255928 broad.mit.edu 37 1 210194504 210194504 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:210194504C>T uc001hhs.4 + 4 540 c.482C>T c.(481-483)tCt>tTt p.S161F SYT14_uc001hht.4_Missense_Mutation_p.S116F|SYT14_uc010psn.2_Missense_Mutation_p.S161F|SYT14_uc001hhu.4_Non-coding_Transcript|SYT14_uc010pso.2_Missense_Mutation_p.S78F|SYT14_uc009xcv.3_Missense_Mutation_p.S116F NM_001146261 NP_001139733 Q8NB59 SYT14_HUMAN Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA. 116 integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) CTGGCAGATTCTAGACAAAGG 0.433000 42 12 0 0 0.00136819 0 0 PDZD2 23037 broad.mit.edu 37 5 32089405 32089406 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:32089405_32089406CC>TT uc003jhl.3 + 19 6239_6240 c.5851_5852CC>TT c.(5851-5853)ccc>TTc p.P1951F PDZD2_uc003jhm.3_Missense_Mutation_p.P1951F NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 1951 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CACAGCTGCCCCCAGGTCCCCC 0.579000 49 16 0 0 6.4e-05 0 0 NLRP3 114548 broad.mit.edu 37 1 247588833 247588833 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:247588833G>A uc001icr.3 + 4 2226 c.2088G>A c.(2086-2088)aaG>aaA p.K696K NLRP3_uc001ics.3_Silent_p.K696K|NLRP3_uc001icu.3_Silent_p.K696K|NLRP3_uc001icw.3_Silent_p.K696K|NLRP3_uc001icv.3_Silent_p.K696K|NLRP3_uc010pyw.2_Silent_p.K694K|NLRP3_uc001ict.1_Silent_p.K694K NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 696 Poly-Glu. 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) AGGAGGAAAAGGAAGGCCGAC 0.527000 38 6 0 0 0.00307968 0 0 ADAM29 11086 broad.mit.edu 37 4 175897020 175897020 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:175897020C>T uc003iuc.3 + 4 1014 c.344C>T c.(343-345)tCc>tTc p.S115F ADAM29_uc003iud.3_Missense_Mutation_p.S115F|ADAM29_uc010irr.3_Missense_Mutation_p.S115F|ADAM29_uc011cki.2_Missense_Mutation_p.S115F|ADAM29_uc021xuo.1_Missense_Mutation_p.S115F NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 115 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.S115F(4) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TCCCTGGTTTCCCTCAGTACC 0.443000 39 21 0 0 0.00188189 0 0 TBC1D1 23216 broad.mit.edu 37 4 38126669 38126669 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:38126669G>A uc003gtb.3 + 17 3407 c.3049G>A c.(3049-3051)Gaa>Aaa p.E1017K TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Missense_Mutation_p.E804K|TBC1D1_uc021xnh.1_Missense_Mutation_p.E114K|TBC1D1_uc021xni.1_Missense_Mutation_p.E114K|TBC1D1_uc003gtd.3_Missense_Mutation_p.E29K NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA. 1017 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TCTGCAGCATGAAAACCTAGA 0.403000 64 24 0 0 0.00332997 0 0 LONP2 83752 broad.mit.edu 37 16 48296762 48296762 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:48296762C>T uc002efi.1 + 5 1050 c.961C>T c.(961-963)Cct>Tct p.P321S MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.P277S NM_031490 NP_113678 Q86WA8 LONP2_HUMAN Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA. 321 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 GGTAGAACTTCCTTGGAACAA 0.348000 18 15 0 0 0.000566183 0 0 OR51F2 119694 broad.mit.edu 37 11 4843204 4843204 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:4843204G>A uc010qyn.2 + 0 589 c.589G>A c.(589-591)Gat>Aat p.D197N NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA. 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CTACCATGTTGATCTCATCCA 0.463000 96 50 0 0 0.00361006 0 0 ALMS1 7840 broad.mit.edu 37 2 73651929 73651929 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:73651929A>G uc002sje.1 + 4 1247 c.1136A>G c.(1135-1137)aAc>aGc p.N379S ALMS1_uc002sjf.1_Missense_Mutation_p.N337S NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 379 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ACTGATGAAAACATAGCTACT 0.373000 36 19 0 0 0.000958276 0 0 CDH13 1012 broad.mit.edu 37 16 83636148 83636148 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:83636148G>A uc010vns.2 + 8 1455 c.1191G>A c.(1189-1191)acG>acA p.T397T CDH13_uc002fgx.3_Silent_p.T350T|CDH13_uc010vnt.2_Silent_p.T96T|CDH13_uc010vnu.2_Silent_p.T311T NM_001220488 NP_001207417 P55290 CAD13_HUMAN Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA. 350 Cadherin 3. Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CCACAGCCACGATCATGATCG 0.463000 143 12 0 0 0.00136819 0 0 DEM1 64789 broad.mit.edu 37 1 40980291 40980291 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:40980291C>T uc001cfp.3 + 2 280 c.75C>T c.(73-75)ttC>ttT p.F25F DEM1_uc001cfq.3_Silent_p.F25F|DEM1_uc001cfr.3_Silent_p.F25F|DEM1_uc021omb.1_Silent_p.F25F NM_022774 NP_073611 Q9H790 EXO5_HUMAN Homo sapiens defects in morphology 1 homolog (S. cerevisiae) (DEM1), mRNA. 25 DNA binding|exonuclease activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|urinary_tract(2) 10 ACTCAGAGTTCCTGGAGTTTC 0.493000 60 70 0 0 0.00361006 0 0 SLITRK6 84189 broad.mit.edu 37 13 86370608 86370608 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:86370608G>A uc001vll.1 - 1 495 c.36C>T c.(34-36)ctC>ctT p.L12L SLITRK6_uc021rla.1_Silent_p.L12L NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA. 12 integral to membrane p.L12P(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TACAGGCAAGGAGAGATGAAT 0.408000 29 20 0 0 0.00188189 0 0 PRB3 5544 broad.mit.edu 37 12 11420818 11420818 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:11420818C>T uc001qzs.3 - 2 403 c.365G>A c.(364-366)gGa>gAa p.G122E PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA. 122 10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich. extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TGGGGGTGGTCCTTCTGGCTT 0.637000 65 36 0 0 0.00361006 0 0 PSG5 5673 broad.mit.edu 37 19 43679591 43679591 + Missense_Mutation SNP G A A rs144866823 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:43679591G>A uc002ovu.3 - 3 871 c.740C>T c.(739-741)tCa>tTa p.S247L PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.S247L NM_002781 NP_002772 Q15238 PSG5_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA. 247 Ig-like C2-type 2. female pregnancy extracellular region p.S247L(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) ATAGGTGAATGAAGGGTAAAT 0.483000 136 52 0 0 0.00361006 0 0 ACSF2 80221 broad.mit.edu 37 17 48551159 48551159 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:48551159G>A uc010wmm.1 + 13 1788 c.1684G>A c.(1684-1686)Gaa>Aaa p.E562K ACSF2_uc002iqu.2_Missense_Mutation_p.E537K|ACSF2_uc010wml.1_Missense_Mutation_p.E494K|ACSF2_uc010wmn.1_Missense_Mutation_p.E524K|ACSF2_uc010wmo.1_Missense_Mutation_p.E377K|ACSF2_uc010dbt.1_Missense_Mutation_p.E41K NM_025149 NP_079425 Q96CM8 ACSF2_HUMAN Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA. 537 fatty acid metabolic process mitochondrion ATP binding|ligase activity endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1) 13 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GAAGGTGCAGGAAGTGCAGGT 0.532000 63 25 0 0 0.00106085 0 0 OBSL1 23363 broad.mit.edu 37 2 220429980 220429980 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:220429980G>A uc010fwk.3 - 5 2705 c.2391C>T c.(2389-2391)ttC>ttT p.F797F OBSL1_uc010zli.1_5'Flank|OBSL1_uc010fwl.2_Silent_p.F797F|OBSL1_uc002vmi.3_Silent_p.F797F NM_015311 NP_056126 O75147 OBSL1_HUMAN Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA. 797 Ig-like 5. cardiac myofibril assembly M band|Z disc|intercalated disc|perinuclear region of cytoplasm cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CAGTGACGCCGAAGAAGGCCG 0.602000 7 4 0 0 0.00024832 0 0 GPR115 221393 broad.mit.edu 37 6 47682214 47682214 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:47682214C>T uc003oyz.1 + 6 1404 c.1404C>T c.(1402-1404)gtC>gtT p.V468V GPR115_uc003oza.1_Silent_p.V411V|GPR115_uc003ozb.1_Silent_p.V411V|RN7SK_uc021zaf.1_5'Flank NM_153838 NP_722580 Q8IZF3 GP115_HUMAN Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA. 411 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GGCTCAGCGTCTCAATCCTAA 0.488000 36 17 0 0 0.000566183 0 0 SEPHS1 22929 broad.mit.edu 37 10 13371744 13371744 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:13371744G>A uc001imk.3 - 5 982 c.605C>T c.(604-606)cCc>cTc p.P202L SEPHS1_uc001imh.3_Missense_Mutation_p.P126L|SEPHS1_uc010qbs.2_Missense_Mutation_p.P154L|SEPHS1_uc010qbt.2_Missense_Mutation_p.P135L|SEPHS1_uc021pnc.1_Missense_Mutation_p.P202L|SEPHS1_uc021pnd.1_Missense_Mutation_p.P202L|SEPHS1_uc009xje.3_Missense_Mutation_p.P202L NM_012247 NP_001182531 P49903 SPS1_HUMAN Homo sapiens selenophosphate synthetase 1 (SEPHS1), transcript variant 1, mRNA. 202 protein modification process ATP binding|GTP binding|selenide, water dikinase activity cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1) 16 TGTCCCCAGGGGTTTTGTCAG 0.527000 6 5 0 0 0.00116845 0 0 ATOH8 84913 broad.mit.edu 37 2 85991120 85991120 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:85991120T>A uc002sqm.4 + 1 1179 c.775T>A c.(775-777)Tgc>Agc p.C259S ATOH8_uc002sqn.3_Missense_Mutation_p.C259S NM_032827 NP_116216 Q96SQ7 ATOH8_HUMAN Homo sapiens atonal homolog 8 (Drosophila) (ATOH8), mRNA. 259 Helix-loop-helix motif. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 5 TCAGGTGCCGTGCTACTCATA 0.617000 13 4 0 0 0.00116845 0 0 PRKACG 5568 broad.mit.edu 37 9 71628928 71628928 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:71628928G>A uc004agy.3 - 0 112 c.81C>T c.(79-81)ttC>ttT p.F27F NM_002732 NP_002723 P22612 KAPCG_HUMAN Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA. 27 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 ATCTGTAGAGGAAATCTCCTC 0.642000 30 31 0 0 0.00428921 0 0 OR10K2 391107 broad.mit.edu 37 1 158389999 158389999 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:158389999G>A uc010pii.2 - 0 658 c.658C>T c.(658-660)Cac>Tac p.H220Y NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA. 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) GAGAGGATGTGAACATAGGAC 0.448000 36 14 0 0 0.00400662 0 0 FAM71B 153745 broad.mit.edu 37 5 156592675 156592675 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:156592675C>T uc003lwn.3 - 0 605 c.505G>A c.(505-507)Gaa>Aaa p.E169K NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 169 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACAAGTTTTTCCCAATAGCAA 0.498000 275 117 0 0 0.00361006 0 0 F13A1 2162 broad.mit.edu 37 6 6305667 6305667 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:6305667C>T uc003mwv.3 - 2 359 c.236G>A c.(235-237)aGa>aAa p.R79K F13A1_uc011dib.2_Intron NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 79 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.R78C(1)|p.R78L(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) AGACTGCCCTCTGCGGACAAT 0.483000 46 18 0 0 0.00074312 0 0 CCDC108 255101 broad.mit.edu 37 2 219874695 219874695 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:219874695G>A uc002vjl.1 - 26 4505 c.4421C>T c.(4420-4422)tCc>tTc p.S1474F NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 1474 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGCTGCCAGGAGAAGGCAAT 0.552000 29 15 0 0 0.00316338 0 0 FER1L6 654463 broad.mit.edu 37 8 125076785 125076785 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:125076785C>T uc003yqw.3 + 25 3732 c.3526C>T c.(3526-3528)Cag>Tag p.Q1176* AK057332_uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 1176 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ACCTGTAGCCCAGGAGCCACC 0.532000 28 11 0 0 0.000978159 0 0 TNXB 7148 broad.mit.edu 37 6 31978814 31978814 + Splice_Site SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:31978814C>T uc021yvf.1 - 4 c.1582_splice c.e4-1 STK19_uc003nza.3_5'Flank|C4B_uc021yvg.1_5'Flank|STK19_uc003nzb.3_5'Flank P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB-S, mRNA. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCTGAGGCTCCCCTGAAAACG 0.632000 66 19 0 0 0.00121646 0 0 MYOM2 9172 broad.mit.edu 37 8 2033405 2033405 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:2033405G>A uc003wpx.4 + 13 1665 c.1527G>A c.(1525-1527)caG>caA p.Q509Q MYOM2_uc011kwi.2_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 509 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GTGACGCCCAGGTTCCAGGGC 0.627000 30 5 0 0 0.00116845 0 0 RBFOX2 23543 broad.mit.edu 37 22 36142011 36142011 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:36142011G>A uc003aon.4 - 12 1382 c.1270C>T c.(1270-1272)Cat>Tat p.H424Y RBFOX2_uc003aom.4_Missense_Mutation_p.H331Y|RBFOX2_uc003aol.4_Missense_Mutation_p.H349Y|RBFOX2_uc003aoj.4_Missense_Mutation_p.H353Y|RBFOX2_uc003aok.4_Silent_p.T336T|RBFOX2_uc003aoh.4_Silent_p.T339T|RBFOX2_uc010gwu.3_Silent_p.T339T|RBFOX2_uc003aoo.4_Missense_Mutation_p.H423Y|RBFOX2_uc021wok.1_Non-coding_Transcript NM_001082578 NP_001076047 O43251 RFOX2_HUMAN Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 2 (RBFOX2), transcript variant 5, mRNA. 363 RNA splicing|estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation cytoplasm|nucleus RNA binding|nucleotide binding|transcription corepressor activity|transcription factor binding endometrium(4)|large_intestine(7)|lung(7) 18 GCAAGGGCATGGTAGGGGTCG 0.408000 226 87 0 0 0.00361006 0 0 MAGI1 9223 broad.mit.edu 37 3 65439006 65439006 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:65439006C>T uc003dmn.3 - 5 1495 c.969G>A c.(967-969)acG>acA p.T323T MAGI1_uc003dmm.3_Silent_p.T323T|MAGI1_uc003dmo.3_Silent_p.T323T|MAGI1_uc003dmp.3_Silent_p.T323T|MAGI1_uc010hny.2_Silent_p.T208T|MAGI1_uc021xac.1_Silent_p.T324T|MAGI1_uc003dmr.3_Silent_p.T324T NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA. 323 WW 1. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) ATGTTGTTTTCGTGTTATGGC 0.403000 80 38 0 0 0.00148497 0 0 MDC1 9656 broad.mit.edu 37 6 30672586 30672586 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:30672586G>A uc003nrg.4 - 9 4814 c.4374C>T c.(4372-4374)tcC>tcT p.S1458S MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Silent_p.S1065S NM_014641 NP_055456 Q14676 MDC1_HUMAN Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA. 1458 Interaction with the PRKDC complex.|Pro-rich. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CTGTGGAGGTGGAAGGCTGGA 0.567000 Other conserved DNA damage response genes 127 32 0 0 0.00209593 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883545 228883545 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:228883545G>A uc002vpq.2 - 6 2072 c.2025C>T c.(2023-2025)atC>atT p.I675I SPHKAP_uc002vpp.2_Silent_p.I675I|SPHKAP_uc010zlx.1_Silent_p.I675I NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 675 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) AATGCCTCAGGATAACATTGG 0.423000 129 53 0 0 0.00361006 0 0 PRX 57716 broad.mit.edu 37 19 40901188 40901188 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:40901188G>A uc002onr.3 - 6 3340 c.3071C>T c.(3070-3072)cCc>cTc p.P1024L PRX_uc002onq.3_Missense_Mutation_p.P885L|PRX_uc002ons.3_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN Homo sapiens periaxin (PRX), transcript variant 2, mRNA. 1024 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCCAAACTTGGGGAGAGCAAA 0.642000 32 17 0 0 0.00121646 0 0 TSPYL6 388951 broad.mit.edu 37 2 54482885 54482885 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:54482885C>T uc002rxr.2 - 0 525 c.404G>A c.(403-405)gGg>gAg p.G135E ACYP2_uc002rxq.4_Intron NM_001003937 NP_001003937 Q8N831 TSYL6_HUMAN Homo sapiens TSPY-like 6 (TSPYL6), mRNA. 135 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 CTCCGACCTCCCTGCCCCACA 0.597000 33 20 0 0 0.00188189 0 0 DYRK2 8445 broad.mit.edu 37 12 68051932 68051932 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:68051932C>T uc001str.4 + 2 1647 c.1245C>T c.(1243-1245)ctC>ctT p.L415L DYRK2_uc001sts.4_Silent_p.L342L|DYRK2_uc021raa.1_Silent_p.L342L NM_006482 NP_003574 Q92630 DYRK2_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 (DYRK2), transcript variant 2, mRNA. 415 Protein kinase. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) TAGCAGAGCTCCTGACGGGTT 0.552000 16 9 0 0 0.000442599 0 0 SLC25A31 83447 broad.mit.edu 37 4 128694608 128694608 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:128694608G>A uc003ifl.3 + 5 973 c.827G>A c.(826-828)gGa>gAa p.G276E NM_031291 NP_112581 Q9H0C2 ADT4_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA. 276 transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2) 22 CAACATGAAGGAATCAGTTCC 0.378000 35 24 0 0 0.00278032 0 0 TCF19 6941 broad.mit.edu 37 6 31129706 31129706 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:31129706C>T uc003nss.3 + 2 1245 c.721C>T c.(721-723)Cct>Tct p.P241S TCF19_uc003nst.3_Missense_Mutation_p.P241S NM_001077511 NP_009040 Q9Y242 TCF19_HUMAN Homo sapiens transcription factor 19 (TCF19), transcript variant 2, mRNA. 241 Pro-rich. P -> L (in dbSNP:rs2073724). cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 GAGTGAGCCTCCTGAGAACCC 0.577000 58 14 0 0 0.00074312 0 0 FAM75A6 389730 broad.mit.edu 37 9 43630529 43630529 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:43630529G>A uc011lrb.2 - 0 202 c.173C>T c.(172-174)tCg>tTg p.S58L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA. 58 integral to membrane breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1) 54 CTTCCCAGGCGATGGTGAGGG 0.463000 100 35 0 0 0.00222228 0 0 IGHG1 3500 broad.mit.edu 37 14 106208459 106208459 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:106208459C>T uc001yse.3 - 3 485 c.39G>A c.(37-39)gtG>gtA p.V13V abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron RecName: Full=Ig gamma-1 chain C region; GGCTCACGTCCACCACCACGC 0.592000 34 39 0 0 0.00428921 0 0 MYOM1 8736 broad.mit.edu 37 18 3126851 3126851 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:3126851G>A uc002klp.3 - 18 3173 c.2839C>T c.(2839-2841)Cgt>Tgt p.R947C MYOM1_uc002klq.3_Missense_Mutation_p.R851C NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 947 Fibronectin type-III 4. striated muscle myosin thick filament structural constituent of muscle p.R947C(2) 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 ATTGAGTCACGAAAACTTTCA 0.423000 15 5 0 0 0.00116845 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140166324 140166324 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140166324C>T uc003lhb.2 + 0 449 c.449C>T c.(448-450)tCg>tTg p.S150L PCDHAC2_uc003lha.2_Missense_Mutation_p.S150L|PCDHAC2_uc003lgz.3_Missense_Mutation_p.S150L NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 165 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.R150Q(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCTGAATTCGCGTTTTCCG 0.443000 73 22 0 0 0.000878237 0 0 C2orf71 388939 broad.mit.edu 37 2 29293647 29293647 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:29293647C>T uc002rmt.2 - 0 3481 c.3481G>A c.(3481-3483)Gaa>Aaa p.E1161K NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA. 1161 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TTCCAGCATTCTGCTGGGTTC 0.622000 22 14 0 0 0.00244969 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14424209 14424209 + RNA SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:14424209G>A uc002yiy.3 + 4 c.3024G>A ANKRD30BP2_uc002yja.4_Non-coding_Transcript Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA. AACACCTGACGAATAGGATAC 0.448000 29 6 0 0 0.00307968 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19685373 19685373 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:19685373G>A uc002ykw.3 - 17 2085 c.2054C>T c.(2053-2055)aCg>aTg p.T685M NM_002772 NP_002763 P98073 ENTK_HUMAN Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA. 685 SRCR. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 ATTGTTGTTCGTtgtgccatt 0.443000 59 28 0 0 0.00209593 0 0 BLM 641 broad.mit.edu 37 15 91303999 91304000 + Missense_Mutation DNP GG TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:91303999_91304000GG>TT uc002bpr.3 + 6 1493_1494 c.1396_1397GG>TT c.(1396-1398)ggg>TTg p.G466L BLM_uc010uqh.2_Missense_Mutation_p.G466L|BLM_uc010uqi.2_Missense_Mutation_p.G91L|BLM_uc010bnx.3_Missense_Mutation_p.G466L NM_000057 NP_000048 P54132 BLM_HUMAN Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA. 466 G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray PML body|cytoplasm|lateral element|nuclear matrix|nucleolus ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) TGTTTCTCCTGGGGACTGTTTA 0.436000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 592 12 0 0 6.4e-05 0 0 GLP1R 2740 broad.mit.edu 37 6 39034008 39034008 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:39034008C>T uc003ooj.4 + 4 498 c.438C>T c.(436-438)atC>atT p.I146I GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript NM_002062 NP_002053 P43220 GLP1R_HUMAN Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA. 146 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) TCCTCTACATCATCTACACGG 0.612000 26 5 0 0 0.00198382 0 0 ZNF560 147741 broad.mit.edu 37 19 9577554 9577554 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9577554C>T uc002mlp.1 - 9 2279 c.2069G>A c.(2068-2070)gGa>gAa p.G690E ZNF560_uc010dwr.1_Missense_Mutation_p.G584E NM_152476 NP_689689 Q96MR9 ZN560_HUMAN Homo sapiens zinc finger protein 560 (ZNF560), mRNA. 690 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 AAAGGAATTTCCACATGCGTT 0.373000 103 47 0 0 0.00361006 0 0 FAM135B 51059 broad.mit.edu 37 8 139190802 139190802 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:139190802G>A uc003yuy.3 - 9 1176 c.1005C>T c.(1003-1005)ctC>ctT p.L335L FAM135B_uc003yux.3_Silent_p.L236L|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 335 p.L335L(3) 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) GTTCCTGGGTGAGATAAGTGG 0.498000 HNSCC(54;0.14) 37 17 0 0 0.00152264 0 0 FAT4 79633 broad.mit.edu 37 4 126241933 126241934 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:126241933_126241934CC>TT uc003ifj.4 + 0 4367_4368 c.4367_4368CC>TT c.(4366-4368)tcc>tTT p.S1456F NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 1456 Cadherin 14. 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 GGTCAACTATCCTACACAATCA 0.391000 58 25 0 0 6.4e-05 0 0 MRAP2 112609 broad.mit.edu 37 6 84765138 84765138 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:84765138C>T uc003pkg.4 + 1 291 c.101C>T c.(100-102)tCc>tTc p.S34F MRAP2_uc010kbo.3_5'UTR NM_138409 NP_612418 Q96G30 MRAP2_HUMAN Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA. 34 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 GGACCAGTTTCCTTTGAAGGA 0.373000 40 17 0 0 0.000958276 0 0 HNF4G 3174 broad.mit.edu 37 8 76456138 76456138 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:76456138T>C uc003yaq.3 + 2 340 c.70T>C c.(70-72)Tat>Cat p.Y24H HNF4G_uc003yap.1_Missense_Mutation_p.Y24H|HNF4G_uc003yar.3_Missense_Mutation_p.Y61H NM_004133 NP_004124 Q14541 HNF4G_HUMAN Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA. 24 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) AGGAAAACACTATGGGGCATC 0.468000 39 11 0 0 0.000978159 0 0 NLRC5 84166 broad.mit.edu 37 16 57060873 57060873 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:57060873C>T uc021tiu.1 + 4 2145 c.2018C>T c.(2017-2019)cCc>cTc p.P673L NLRC5_uc021tit.1_Missense_Mutation_p.P673L|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.P478L|NLRC5_uc021tiw.1_Missense_Mutation_p.P478L|NLRC5_uc010ccr.1_Non-coding_Transcript NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 673 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GATGGCTGTCCCCTGGAGCCC 0.597000 19 10 0 0 0.000978159 0 0 PAPOLA 10914 broad.mit.edu 37 14 97022680 97022680 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:97022680C>T uc001yfq.3 + 18 2151 c.1934C>T c.(1933-1935)cCt>cTt p.P645L PAPOLA_uc001yfr.3_Missense_Mutation_p.P644L|PAPOLA_uc010twv.2_Missense_Mutation_p.P645L|PAPOLA_uc010avp.3_Missense_Mutation_p.P395L NM_032632 NP_116021 P51003 PAPOA_HUMAN Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA. 645 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity p.T644A(1) breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) ATACCTACTCCTATAGTAGGA 0.403000 49 38 0 0 0.00170553 0 0 TFCP2L1 29842 broad.mit.edu 37 2 121989510 121989511 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:121989510_121989511GG>AA uc002tmx.3 - 12 1325_1326 c.1232_1233CC>TT c.(1231-1233)acc>aTT p.T411I TFCP2L1_uc010flr.3_Intron|TFCP2L1_uc010flq.3_Intron NM_014553 NP_055368 Q9NZI6 TF2L1_HUMAN Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA. 411 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) TCAGCTCCAAGGTGGTCAGCTC 0.599000 56 19 0 0 6.4e-05 0 0 TDRD1 56165 broad.mit.edu 37 10 115985903 115985903 + Missense_Mutation SNP C T T rs141065182 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:115985903C>T uc001lbg.1 + 21 3256 c.3103C>T c.(3103-3105)Ctt>Ttt p.L1035F TDRD1_uc001lbf.3_Missense_Mutation_p.L912F|TDRD1_uc001lbh.1_Missense_Mutation_p.L1022F|TDRD1_uc001lbi.1_Missense_Mutation_p.L1026F|TDRD1_uc010qsc.2_Missense_Mutation_p.L639F|TDRD1_uc001lbj.3_Missense_Mutation_p.L744F NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN Homo sapiens tudor domain containing 1 (TDRD1), mRNA. 1035 Tudor 4. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) AACCCTGCCTCTTTGCAGAGT 0.438000 28 11 0 0 0.000978159 0 0 PLXNA4 91584 broad.mit.edu 37 7 131887442 131887442 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:131887442C>T uc003vra.4 - 11 2778 c.2549G>A c.(2548-2550)gGt>gAt p.G850D NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 850 PSI 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GCTTTTGGCACCAGACAGCTC 0.662000 23 13 0 0 0.00136819 0 0 ADAM7 8756 broad.mit.edu 37 8 24342819 24342819 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:24342819G>A uc003xeb.3 + 9 1018 c.905G>A c.(904-906)gGa>gAa p.G302E ADAM7_uc003xec.3_Missense_Mutation_p.G74E NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 302 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.G302E(4) NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CATGTGCAAGGAATTTCTTAT 0.343000 89 22 0 0 0.000878237 0 0 FSIP1 161835 broad.mit.edu 37 15 40034077 40034077 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:40034077G>A uc001zki.3 - 5 802 c.584C>T c.(583-585)aCc>aTc p.T195I NM_152597 NP_689810 Q8NA03 FSIP1_HUMAN Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA. 195 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) TGAGGAAAAGGTGTCTTCCTC 0.313000 11 17 0 0 0.00152264 0 0 MYCT1 80177 broad.mit.edu 37 6 153042884 153042884 + Silent SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:153042884T>A uc003qpc.4 + 1 212 c.204T>A c.(202-204)ctT>ctA p.L68L NM_025107 NP_079383 Q8N699 MYCT1_HUMAN Homo sapiens myc target 1 (MYCT1), mRNA. 68 nucleus p.L68H(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) CAGAGGACCTTATCATGTCCT 0.373000 37 21 0 0 0.00229938 0 0 PHF2P1 266695 broad.mit.edu 37 13 19622135 19622135 + Splice_Site SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:19622135C>T uc001umb.1 - 10 c.3676_splice c.e10+1 Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA. CAACCAGTACCTTTGAACGCC 0.552000 74 16 0 0 0.00074312 0 0 MUC16 94025 broad.mit.edu 37 19 9061272 9061272 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9061272C>T uc002mkp.3 - 2 26378 c.26174G>A c.(26173-26175)aGa>aAa p.R8725K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8727 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 AGAAGCACTTCTCTCTGTTGC 0.512000 32 13 0 0 0.00244969 0 0 CXCR7 57007 broad.mit.edu 37 2 237489660 237489660 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:237489660G>A uc021vys.1 + 0 552 c.552G>A c.(550-552)aaG>aaA p.K184K CXCR7_uc010fyq.3_Silent_p.K184K|CXCR7_uc002vwd.3_Silent_p.K184K NM_020311 NP_064707 P25106 CXCR7_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA. 184 interspecies interaction between organisms integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(2)|skin(1) 4 Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223) Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118) ACTACCTGAAGACCGTCACGT 0.592000 65 45 0 0 0.00361006 0 0 RPP40 10799 broad.mit.edu 37 6 4995466 4995466 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:4995466G>A uc003mwl.3 - 7 973 c.938C>T c.(937-939)tCc>tTc p.S313F RPP40_uc003mwm.3_Missense_Mutation_p.S290F NM_006638 NP_006629 O75818 RPP40_HUMAN Homo sapiens ribonuclease P/MRP 40kDa subunit (RPP40), mRNA. 313 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 14 Ovarian(93;0.11) all_hematologic(90;0.0895) GCCTTGAACGGACAGTGTAAC 0.358000 44 12 0 0 0.00136819 0 0 DNAH5 1767 broad.mit.edu 37 5 13717512 13717512 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:13717512C>T uc003jfd.2 - 72 12659 c.12617G>A c.(12616-12618)tGg>tAg p.W4206* DNAH5_uc003jfc.2_Nonsense_Mutation_p.W374* NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4206 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) GGGGATATTCCACCCCAGGGC 0.547000 Kartagener syndrome 21 7 0 0 0.00198382 0 0 CAPSL 133690 broad.mit.edu 37 5 35904728 35904728 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:35904728C>T uc003jjt.1 - 4 641 c.546G>A c.(544-546)atG>atA p.M182I CAPSL_uc003jju.1_Missense_Mutation_p.M182I NM_001042625 NP_653248 Q8WWF8 CAPSL_HUMAN Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA. 182 EF-hand 4. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) CATAGTAGTTCATGAACTCCT 0.478000 57 26 0 0 0.00106085 0 0 UNC45A 55898 broad.mit.edu 37 15 91485780 91485781 + Missense_Mutation DNP CC AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:91485780_91485781CC>AA uc002bqg.3 + 6 1141_1142 c.801_802CC>AA c.(799-804)gccctc>gcAAtc p.L268I UNC45A_uc002bqd.3_Missense_Mutation_p.L253I|UNC45A_uc010uqo.1_Missense_Mutation_p.L260I|UNC45A_uc010uqp.1_Non-coding_Transcript|UNC45A_uc010uqq.1_Missense_Mutation_p.L268I NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA. 268 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) TGTTTGATGCCCTCAAGGAAGG 0.550000 618 14 0 0 6.4e-05 0 0 UBC 7316 broad.mit.edu 37 17 21731223 21731223 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:21731223C>T uc002gyy.3 + 1 650 c.525C>T c.(523-525)atC>atT p.I175I P0CG48 UBC_HUMAN SubName: Full=Uncharacterized protein; 327 Ubiquitin-like 3. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GTGACACCATCGAAAATGTGA 0.547000 26 21 0 0 0.00332997 0 0 C10orf12 26148 broad.mit.edu 37 10 98742252 98742252 + Missense_Mutation SNP G A A rs139771197 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:98742252G>A uc001kmv.3 + 0 1212 c.1105G>A c.(1105-1107)Ggg>Agg p.G369R C10orf12_uc009xvg.2_Missense_Mutation_p.G679R NM_015652 NP_056467 Q8N655 CJ012_HUMAN Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA. 369 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) AAGCTTTTCCGGGGGAGTCAG 0.488000 40 26 0 0 0.000878237 0 0 ERCC6L 54821 broad.mit.edu 37 X 71425870 71425870 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:71425870T>C uc004eaq.1 - 1 2844 c.2747A>G c.(2746-2748)gAa>gGa p.E916G PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.E793G NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA. 916 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) ATCAGCTATTTCAATAATGGA 0.403000 9 20 0 0 0.00395357 0 0 NRK 203447 broad.mit.edu 37 X 105189954 105189954 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:105189954C>T uc004emd.3 + 24 4450 c.4147C>T c.(4147-4149)Cca>Tca p.P1383S NRK_uc011msi.2_5'Flank NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 1384 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GGCAGCTGATCCAGTGAACCG 0.448000 HNSCC(51;0.14) 6 11 0 0 0.000673444 0 0 SPAG17 200162 broad.mit.edu 37 1 118570916 118570916 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:118570916G>A uc001ehk.2 - 25 3779 c.3711C>T c.(3709-3711)ttC>ttT p.F1237F NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 1237 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTTGTCCAATGAAAGTCAACA 0.448000 117 38 0 0 0.00170553 0 0 MOGAT3 346606 broad.mit.edu 37 7 100839366 100839366 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:100839366G>A uc003uyc.3 - 6 1054 c.887C>T c.(886-888)cCc>cTc p.P296L MOGAT3_uc010lhr.3_Silent_p.P228P NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA. 296 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) CTGGGGGACGGGGATGGGGCG 0.672000 6 8 0 0 0.00307968 0 0 ZNF827 152485 broad.mit.edu 37 4 146823949 146823949 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:146823949G>A uc003ikn.3 - 1 510 c.462C>T c.(460-462)ctC>ctT p.L154L ZNF827_uc003ikm.3_Silent_p.L154L|ZNF827_uc010iox.3_Intron NM_178835 NP_849157 Q17R98 ZN827_HUMAN Homo sapiens zinc finger protein 827 (ZNF827), mRNA. 154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) GGGAAAAGGAGAGGTTCGAGC 0.577000 44 10 0 0 0.000673444 0 0 NELL2 4753 broad.mit.edu 37 12 44902763 44902763 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:44902763C>T uc010skz.1 - 20 2680 c.2555G>A c.(2554-2556)gGc>gAc p.G852D NELL2_uc001rof.3_Missense_Mutation_p.G801D|NELL2_uc001rog.2_Missense_Mutation_p.G802D|NELL2_uc001roh.2_Missense_Mutation_p.G802D|NELL2_uc009zkd.2_Missense_Mutation_p.G754D|NELL2_uc010sla.1_Missense_Mutation_p.G825D NM_001145107 NP_006150 Q99435 NELL2_HUMAN Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA. 802 cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) ACAGATGTGGCCATTCTAGAT 0.323000 57 17 0 0 0.00121646 0 0 C8orf37 157657 broad.mit.edu 37 8 96259868 96259868 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:96259868G>A uc003yho.2 - 5 646 c.601C>T c.(601-603)Cgc>Tgc p.R201C NM_177965 NP_808880 Q96NL8 CH037_HUMAN Homo sapiens chromosome 8 open reading frame 37 (C8orf37), mRNA. 201 kidney(1)|large_intestine(1)|lung(5) 7 Breast(36;3.41e-05) CAAACCCAGCGAAGCTGATGA 0.433000 360 165 0 0 0.00361006 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560087 44560087 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:44560087C>T uc002lcr.1 - 0 1902 c.1549G>A c.(1549-1551)Ggc>Agc p.G517S KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 517 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding p.S516S(1) breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGCCTGGAGCCCGAGTACACC 0.617000 91 34 0 0 0.00111076 0 0 DMXL1 1657 broad.mit.edu 37 5 118484445 118484445 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:118484445T>A uc010jcl.1 + 17 3104 c.2923T>A c.(2923-2925)Tca>Aca p.S975T DMXL1_uc003ksd.2_Missense_Mutation_p.S975T|DMXL1_uc021ycw.1_Missense_Mutation_p.S802T NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Homo sapiens Dmx-like 1 (DMXL1), mRNA. 975 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) ACATCTGAGTTCATCTTCTAT 0.313000 95 28 0 0 0.001512 0 0 RP1 6101 broad.mit.edu 37 8 55540520 55540520 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:55540520G>A uc003xsd.1 + 3 4226 c.4078G>A c.(4078-4080)Gaa>Aaa p.E1360K RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1360 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGATTCAACTGAAGAGTTAGA 0.333000 55 20 0 0 0.00188189 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146997273 146997273 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:146997273C>T uc003weu.2 + 8 1905 c.1389C>T c.(1387-1389)ttC>ttT p.F463F MIR548I4_uc022aoo.1_Intron NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 463 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AGGTTCGCTTCCTAGCCAAGG 0.408000 HNSCC(39;0.1) 48 27 0 0 0.00178596 0 0 N4BP2 55728 broad.mit.edu 37 4 40104546 40104546 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:40104546C>T uc003guy.4 + 3 1419 c.1081C>T c.(1081-1083)Ccg>Tcg p.P361S N4BP2_uc010ifq.3_Missense_Mutation_p.P281S|N4BP2_uc010ifr.3_Missense_Mutation_p.P281S NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA. 361 Pro-rich. cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 GCCACCTCCACCGATGTGGAA 0.517000 52 25 0 0 0.000720815 0 0 CYP2C8 1558 broad.mit.edu 37 10 96826976 96826976 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:96826976C>T uc001kkb.3 - 2 565 c.470G>A c.(469-471)aGa>aAa p.R157K CYP2C8_uc010qoa.2_Missense_Mutation_p.R87K|CYP2C8_uc010qoc.2_Missense_Mutation_p.R55K|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.R71K|CYP2C8_uc021pwl.1_Missense_Mutation_p.R87K|CYP2C8_uc010qod.1_Missense_Mutation_p.R71K NM_000770 NP_000761 P10632 CP2C8_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA. 157 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) CTTGGTTTTTCTCAACTCCTC 0.517000 49 52 0 0 0.00361006 0 0 BAI3 577 broad.mit.edu 37 6 69944939 69944939 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:69944939G>A uc010kak.3 + 17 2899 c.2623G>A c.(2623-2625)Ggc>Agc p.G875S BAI3_uc003pev.4_Missense_Mutation_p.G875S|BAI3_uc011dxx.2_Missense_Mutation_p.G81S NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 875 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GGAATCCTCTGGCACACCTTC 0.358000 103 56 0 0 0.00361006 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140753756 140753756 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140753756C>T uc003ljy.2 + 0 106 c.106C>T c.(106-108)Ccc>Tcc p.P36S PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.P36S NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 36 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTACTCTATTCCCGAGGAGCT 0.662000 14 8 0 0 0.000274275 0 0 MYH4 4622 broad.mit.edu 37 17 10353861 10353861 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10353861C>T uc002gmn.3 - 29 4201 c.4090G>A c.(4090-4092)Gga>Aga p.G1364R AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1364 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTGGACATTCCCCTCTGCAGC 0.612000 39 36 0 0 0.00170553 0 0 DYSF 8291 broad.mit.edu 37 2 71894519 71894519 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:71894519C>T uc010fen.3 + 47 5472 c.5331C>T c.(5329-5331)atC>atT p.I1777I DYSF_uc010fei.3_Silent_p.I1755I|DYSF_uc010feh.3_Silent_p.I1745I|DYSF_uc002sig.4_Silent_p.I1724I|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.I1769I|DYSF_uc010fee.3_Silent_p.I1759I|DYSF_uc010fef.3_Silent_p.I1776I|DYSF_uc002sie.3_Silent_p.I1738I|DYSF_uc010feo.3_Silent_p.I1770I|DYSF_uc010fej.3_Silent_p.I1746I|DYSF_uc010fel.3_Silent_p.I1725I|DYSF_uc010fem.3_Silent_p.I1760I|DYSF_uc002sif.3_Silent_p.I1739I|DYSF_uc010fek.3_Silent_p.I1756I|DYSF_uc010yqy.2_Silent_p.I619I|DYSF_uc010yqz.2_Silent_p.I499I NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1738 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CTGGCAGGATCCCAAACCCAC 0.622000 73 19 0 0 0.00229938 0 0 FAM127A 8933 broad.mit.edu 37 X 134166496 134166497 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:134166496_134166497CC>TT uc004eyd.3 + 0 164_165 c.83_84CC>TT c.(82-84)ccc>cTT p.P28L NM_001078171 NP_001071639 A6ZKI3 F127A_HUMAN Homo sapiens family with sequence similarity 127, member A (FAM127A), mRNA. 28 endometrium(3)|urinary_tract(1) 4 Acute lymphoblastic leukemia(192;0.000127) AACCCGATTCCCTTTCCCGAGA 0.634000 16 29 0 0 6.4e-05 0 0 OR2V2 285659 broad.mit.edu 37 5 180582573 180582573 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:180582573C>T uc011dhj.2 + 0 631 c.631C>T c.(631-633)Cca>Tca p.P211S NM_206880 NP_996763 Q96R30 OR2V2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA. 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTTCTCTTCCCATTCTCCAT 0.502000 120 41 0 0 0.00222228 0 0 MICA 100507436 broad.mit.edu 37 6 31378479 31378479 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:31378479T>A uc003ntk.1 + 1 269 c.230T>A c.(229-231)cTg>cAg p.L77Q MICA_uc003rxz.1_5'UTR|MICA_uc021yun.1_5'UTR|MICA_uc021yuo.1_5'UTR NM_001177519 NP_001170990 Q29983 MICA_HUMAN Homo sapiens MHC class I polypeptide-related sequence A (MICA), transcript variant 1 (allele MICA*00801), mRNA. 77 antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway MHC class I protein complex|cell surface|cytoplasm|extracellular space|integral to plasma membrane natural killer cell lectin-like receptor binding breast(1)|endometrium(3)|kidney(1) 5 Ovarian(999;0.0253) GAAGATGTCCTGGGAAATAAG 0.542000 11 5 0 0 0.000602214 0 0 SLC45A4 57210 broad.mit.edu 37 8 142228931 142228931 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:142228931C>T uc003ywd.1 - 3 963 c.655G>A c.(655-657)Ggc>Agc p.G219S SLC45A4_uc003ywc.1_Missense_Mutation_p.G219S|SLC45A4_uc010meq.1_Missense_Mutation_p.G217S NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA. 270 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|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;0.0493) TCCAGGGCGCCGGGCTCCTCA 0.672000 34 20 0 0 0.00121646 0 0 COL4A6 1288 broad.mit.edu 37 X 107447583 107447583 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:107447583G>A uc004enw.4 - 11 853 c.750C>T c.(748-750)ttC>ttT p.F250F COL4A6_uc004env.4_Silent_p.F249F|COL4A6_uc011msn.2_Silent_p.F249F|COL4A6_uc010npk.3_Silent_p.F249F NM_001847 NP_001838 Q14031 CO4A6_HUMAN Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA. 250 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 GGAATCCCATGAATTCCAGCT 0.398000 Alport syndrome with Diffuse Leiomyomatosis 9 20 0 0 0.00332997 0 0 DMXL2 23312 broad.mit.edu 37 15 51829950 51829950 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:51829950G>A uc010ufy.2 - 10 1577 c.1352C>T c.(1351-1353)tCc>tTc p.S451F DMXL2_uc002abf.3_Missense_Mutation_p.S451F|DMXL2_uc010bfa.3_Missense_Mutation_p.S451F NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 451 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TCTATCCAGGGATAAATCTGA 0.323000 14 7 0 0 0.00198382 0 0 ICA1 3382 broad.mit.edu 37 7 8258070 8258070 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:8258070G>A uc003sro.4 - 5 580 c.444C>T c.(442-444)gcC>gcT p.A148A ICA1_uc010ktr.3_Silent_p.A148A|ICA1_uc003srm.3_Silent_p.A148A|ICA1_uc003srn.4_Silent_p.A74A|ICA1_uc003srq.3_Silent_p.A148A|ICA1_uc003srr.3_Silent_p.A147A|ICA1_uc010kts.3_Non-coding_Transcript|ICA1_uc003srs.1_Silent_p.A148A NM_001136020 NP_071682 Q05084 ICA69_HUMAN Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA. 148 AH. neurotransmitter transport Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) TATCTGAGATGGCCCGATGCC 0.483000 47 21 0 0 0.00121646 0 0 CD2 914 broad.mit.edu 37 1 117311132 117311132 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:117311132G>A uc001egu.4 + 4 812 c.783G>A c.(781-783)agG>agA p.R261R NM_001767 NP_001758 P06729 CD2_HUMAN Homo sapiens CD2 molecule (CD2), mRNA. 261 T cell activation|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 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) CTGAAGAAAGGGGCCGGAAGC 0.512000 25 5 0 0 0.000602214 0 0 GSX2 170825 broad.mit.edu 37 4 54967785 54967785 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:54967785G>A uc010igp.1 + 1 875 c.611G>A c.(610-612)aGg>aAg p.R204K PDGFRA_uc003haa.3_Intron NM_133267 NP_573574 Q9BZM3 GSX2_HUMAN Homo sapiens GS homeobox 2 (GSX2), mRNA. 204 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(2)|lung(2) 6 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) AATGGCAAGAGGATGAGGACG 0.587000 41 20 0 0 0.00229938 0 0 ZNF76 7629 broad.mit.edu 37 6 35259167 35259167 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:35259167C>T uc003oki.1 + 7 943 c.738C>T c.(736-738)gtC>gtT p.V246V ZNF76_uc011dsy.1_Silent_p.V246V|ZNF76_uc011dsz.1_Silent_p.V246V|ZNF76_uc003okj.1_Silent_p.V246V NM_003427 NP_003418 P36508 ZNF76_HUMAN Homo sapiens zinc finger protein 76 (ZNF76), mRNA. 246 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 AGAAGCATGTCCGTACCCACA 0.567000 19 8 0 0 0.000274275 0 0 TEX19 400629 broad.mit.edu 37 17 80320140 80320140 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:80320140C>T uc002keq.3 + 1 424 c.114C>T c.(112-114)ttC>ttT p.F38F TEX19_uc021ufp.1_Silent_p.F38F NM_207459 NP_997342 Q8NA77 TEX19_HUMAN Homo sapiens testis expressed 19 (TEX19), mRNA. 38 nucleus breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 6 TCACCTGCTTCAAGGCTGCCT 0.512000 116 43 0 0 0.00361006 0 0 PPIG 9360 broad.mit.edu 37 2 170460756 170460756 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:170460756C>T uc002uez.3 + 3 341 c.121C>T c.(121-123)Cgt>Tgt p.R41C PPIG_uc010fpx.3_Missense_Mutation_p.R41C|PPIG_uc010fpy.3_Intron|PPIG_uc002ufa.3_Missense_Mutation_p.R41C|PPIG_uc002ufb.3_Missense_Mutation_p.R41C|PPIG_uc002ufc.1_Missense_Mutation_p.R41C|PPIG_uc002ufd.3_Missense_Mutation_p.R41C NM_004792 NP_004783 Q13427 PPIG_HUMAN Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA. 41 PPIase cyclophilin-type. RNA splicing|protein folding nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) CGAGAACTTTCGTTGTCTTTG 0.343000 97 41 0 0 0.00361006 0 0 TPTE 7179 broad.mit.edu 37 21 10920116 10920116 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:10920116C>T uc002yip.1 - 18 1506 c.1138G>A c.(1138-1140)Gaa>Aaa p.E380K TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.E362K|TPTE_uc002yir.1_Missense_Mutation_p.E342K|TPTE_uc010gkv.1_Missense_Mutation_p.E242K NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 380 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.E380K(1)|p.E362K(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) TGAAATTTTTCGCTGTGGGTT 0.393000 128 13 0 0 0.00185496 0 0 C19orf21 126353 broad.mit.edu 37 19 757656 757656 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:757656C>T uc002lpo.3 + 1 793 c.710C>T c.(709-711)cCc>cTc p.P237L NM_173481 NP_775752 Q8IVT2 CS021_HUMAN Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA. 237 breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTCAACAAGCCCCACCTGGCC 0.682000 4 4 0 0 0.00116845 0 0 SERPINB7 8710 broad.mit.edu 37 18 61449693 61449693 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:61449693C>T uc002ljl.3 + 1 183 c.87C>T c.(85-87)ttC>ttT p.F29F SERPINB7_uc002ljm.3_Silent_p.F29F|SERPINB7_uc010xet.2_Silent_p.F29F|SERPINB7_uc010dqg.3_Silent_p.F29F NM_001040147 NP_003775 O75635 SPB7_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA. 29 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) GAAATGTGTTCTTTTCCTCTC 0.498000 52 19 0 0 0.00188189 0 0 RBM19 9904 broad.mit.edu 37 12 114261086 114261086 + Silent SNP G A A rs140794490 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:114261086G>A uc009zwi.2 - 23 2970 c.2826C>T c.(2824-2826)atC>atT p.I942I RBM19_uc001tvn.4_Silent_p.I942I|RBM19_uc001tvm.3_Silent_p.I942I NM_001146699 NP_057280 Q9Y4C8 RBM19_HUMAN Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA. 942 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm RNA binding|nucleotide binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) GCTGCTCCAGGATCTCGTCCA 0.632000 31 11 0 0 0.000978159 0 0 FAM214B 80256 broad.mit.edu 37 9 35107468 35107468 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:35107468G>A uc003zwl.3 - 2 1129 c.804C>T c.(802-804)tcC>tcT p.S268S FAM214B_uc003zwm.3_Silent_p.S268S|FAM214B_uc003zwn.3_5'UTR|FAM214B_uc003zwo.3_Silent_p.S268S|FAM214B_uc003zwp.1_Silent_p.S268S|FAM214B_uc010mkk.1_Non-coding_Transcript|FAM214B_uc022bgj.1_Silent_p.S268S NM_025182 NP_079458 Q7L5A3 K1539_HUMAN Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA. 268 nucleus GGTGGCCCAGGGATCCCCGGC 0.637000 42 40 0 0 0.00321405 0 0 RANBP2 5903 broad.mit.edu 37 2 109371668 109371668 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:109371668C>T uc002tem.4 + 16 2545 c.2419C>T c.(2419-2421)Cag>Tag p.Q807* NM_006267 NP_006258 P49792 RBP2_HUMAN Homo sapiens RAN binding protein 2 (RANBP2), mRNA. 807 carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding p.Q807H(1) RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GGCAGAAGATCAGAATTCTTT 0.328000 248 84 0 0 0.00361006 0 0 TP63 8626 broad.mit.edu 37 3 189604206 189604206 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:189604206C>T uc003fry.2 + 10 1462 c.1373C>T c.(1372-1374)tCa>tTa p.S458L TP63_uc003frz.2_Missense_Mutation_p.S458L|TP63_uc010hzc.1_Missense_Mutation_p.S458L|TP63_uc003fsc.2_Missense_Mutation_p.S364L|TP63_uc003fsd.2_Missense_Mutation_p.S364L|TP63_uc021xir.1_Missense_Mutation_p.S364L|TP63_uc010hzd.1_Missense_Mutation_p.S279L NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 458 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TCTCCATCTTCATATGGTAAC 0.473000 HNSCC(45;0.13) 51 18 0 0 0.00332997 0 0 TBC1D1 23216 broad.mit.edu 37 4 38091654 38091654 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:38091654C>T uc003gtb.3 + 12 2510 c.2152C>T c.(2152-2154)Cgt>Tgt p.R718C TBC1D1_uc011byd.2_Missense_Mutation_p.R812C|TBC1D1_uc010ifd.3_Missense_Mutation_p.R505C|TBC1D1_uc011byf.1_Missense_Mutation_p.R589C NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA. 718 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 AAGGACATCTCGTGAGCTCCG 0.488000 54 35 0 0 0.000953801 0 0 ASTN1 460 broad.mit.edu 37 1 176913084 176913084 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:176913084C>T uc001glc.3 - 13 2532 c.2320G>A c.(2320-2322)Gag>Aag p.E774K ASTN1_uc001glb.1_Missense_Mutation_p.E774K|ASTN1_uc001gld.1_Missense_Mutation_p.E774K|ASTN1_uc009wwx.1_Missense_Mutation_p.E774K NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 782 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CATTGATTCTCCAGGGGCACA 0.522000 37 13 0 0 0.00185496 0 0 ODF2 4957 broad.mit.edu 37 9 131247670 131247670 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:131247670C>T uc004bvc.3 + 12 1595 c.1509C>T c.(1507-1509)tcC>tcT p.S503S ODF2_uc011maz.2_Silent_p.S439S|ODF2_uc011mbc.2_Silent_p.S358S|ODF2_uc022boj.1_Silent_p.S464S|ODF2_uc004bva.3_Silent_p.S483S|ODF2_uc004bvb.3_Silent_p.S415S|ODF2_uc011mbd.2_Silent_p.S439S|ODF2_uc011mbe.2_Silent_p.S434S|ODF2_uc010myc.3_Silent_p.S382S|ODF2_uc011mbf.2_Silent_p.S420S|ODF2_uc004bvd.4_Silent_p.S439S|ODF2_uc004bve.3_Silent_p.S420S|BC094874_uc004bvg.3_5'Flank NM_153435 NP_702913 Q5BJF6 ODFP2_HUMAN Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA. 439 G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 AAGCTTTATCCACTCTGGAAT 0.507000 21 13 0 0 0.00316338 0 0 PSAT1 29968 broad.mit.edu 37 9 80916931 80916931 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:80916931G>A uc004ala.3 + 2 251 c.183G>A c.(181-183)cgG>cgA p.R61R PSAT1_uc004alb.3_Silent_p.R61R NM_058179 NP_478059 Q9Y617 SERC_HUMAN Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA. 61 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding p.R61W(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) ATCTTGTGCGGGAATTGCTGT 0.318000 45 12 0 0 0.00136819 0 0 CPA6 57094 broad.mit.edu 37 8 68423836 68423836 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:68423836G>A uc003xxq.4 - 3 628 c.372C>T c.(370-372)acC>acT p.T124T CPA6_uc003xxr.4_5'UTR|CPA6_uc003xxs.2_Silent_p.T124T NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN Homo sapiens carboxypeptidase A6 (CPA6), mRNA. 124 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) GGTTTCTCTGGGTGTGCAAGC 0.378000 184 64 0 0 0.00361006 0 0 SLC2A2 6514 broad.mit.edu 37 3 170716075 170716075 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:170716075G>A uc003fhe.1 - 9 1590 c.1281C>T c.(1279-1281)ttC>ttT p.F427F SLC2A2_uc003fhf.1_Silent_p.F254F|SLC2A2_uc011bpu.1_Silent_p.F300F NM_000340 NP_000331 P11168 GTR2_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA. 427 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity p.F427S(1) central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) GTCCTTGACTGAAAAACTCAG 0.473000 54 19 0 0 0.00152264 0 0 CYCS 54205 broad.mit.edu 37 7 25163633 25163633 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:25163633G>A uc003sxl.3 - 1 276 c.106C>T c.(106-108)Ctc>Ttc p.L36F NM_018947 NP_061820 P99999 CYC_HUMAN Homo sapiens cytochrome c, somatic (CYCS), nuclear gene encoding mitochondrial protein, mRNA. 36 DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 4 Melatonin(DB01065)|Minocycline(DB01017) CGCCCAAAGAGACCATGGAGA 0.448000 53 20 0 0 0.000958276 0 0 HIF3A 64344 broad.mit.edu 37 19 46842805 46842805 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:46842805C>T uc002peh.3 + 14 1967 c.1936C>T c.(1936-1938)Ccg>Tcg p.P646S HIF3A_uc010xxy.2_Missense_Mutation_p.P577S|HIF3A_uc002pel.3_Missense_Mutation_p.P644S NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA. 646 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) ACTGCTCTCTCCGTACTCAGA 0.552000 69 24 0 0 0.00332997 0 0 OR9A4 130075 broad.mit.edu 37 7 141619260 141619260 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:141619260G>A uc003vwu.1 + 0 585 c.585G>A c.(583-585)acG>acA p.T195T NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA. 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) CTCTTTTCACGGAGTTTATCC 0.388000 113 39 0 0 0.00128727 0 0 FBN3 84467 broad.mit.edu 37 19 8136957 8136957 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:8136957C>T uc002mjf.3 - 61 8080 c.8063G>A c.(8062-8064)cGa>cAa p.R2688Q FBN3_uc002mje.3_Missense_Mutation_p.R484Q NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 2688 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 GGCACTGCGTCGTGGCCGGTC 0.637000 48 23 0 0 0.000720815 0 0 ZNF560 147741 broad.mit.edu 37 19 9579814 9579814 + Silent SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9579814A>G uc002mlp.1 - 8 789 c.579T>C c.(577-579)aaT>aaC p.N193N ZNF560_uc010dwr.1_Silent_p.N87N NM_152476 NP_689689 Q96MR9 ZN560_HUMAN Homo sapiens zinc finger protein 560 (ZNF560), mRNA. 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TTAAACAAAAATTATCTTGCC 0.313000 17 9 0 0 0.00136819 0 0 SLC26A5 375611 broad.mit.edu 37 7 103061940 103061940 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:103061940C>T uc003vbz.3 - 2 284 c.22G>A c.(22-24)Gaa>Aaa p.E8K SLC26A5_uc003vbt.2_Missense_Mutation_p.E8K|SLC26A5_uc003vbu.2_Missense_Mutation_p.E8K|SLC26A5_uc003vbv.2_Missense_Mutation_p.E8K|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.E8K NM_198999 NP_945350 P58743 S26A5_HUMAN Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA. 8 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 GCAAGGATTTCATTTTCTTCA 0.428000 39 15 0 0 0.000958276 0 0 CDK18 5129 broad.mit.edu 37 1 205497015 205497015 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:205497015G>A uc001hcr.3 + 8 1175 c.913G>A c.(913-915)Gag>Aag p.E305K CDK18_uc001hcp.3_Missense_Mutation_p.E275K|CDK18_uc001hcq.3_Missense_Mutation_p.E275K|CDK18_uc010prj.2_Missense_Mutation_p.E186K|CDK18_uc001hcs.3_Missense_Mutation_p.E186K|CDK18_uc009xbm.1_Missense_Mutation_p.E200K NM_212503 NP_997668 Q07002 CDK18_HUMAN Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA. 273 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 GCTCATCAACGAGAGGGGGGA 0.647000 45 17 0 0 0.00188189 0 0 BPTF 2186 broad.mit.edu 37 17 65871115 65871116 + Missense_Mutation DNP CC AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:65871115_65871116CC>AA uc002jgf.3 + 3 1904_1905 c.1843_1844CC>AA c.(1843-1845)cct>AAt p.P615N BPTF_uc002jge.3_Missense_Mutation_p.P615N|BPTF_uc010wqm.1_Missense_Mutation_p.P615N NM_182641 NP_872579 Q12830 BPTF_HUMAN Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA. 730 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex|cytoplasm sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) AGATGATGACCCTGAGCAAGGA 0.337000 138 7 0 0 6.4e-05 0 0 COL6A6 131873 broad.mit.edu 37 3 130282394 130282394 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:130282394C>T uc010htl.3 + 1 578 c.547C>T c.(547-549)Cat>Tat p.H183Y NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 183 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GTCTCAGTTTCATTTCAACCT 0.473000 55 24 0 0 0.00278032 0 0 SCN4A 6329 broad.mit.edu 37 17 62019223 62019223 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:62019223G>A uc002jds.1 - 23 4496 c.4419C>T c.(4417-4419)ttC>ttT p.F1473F NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 1473 F -> S (in PMC; accelerates deactivation from the inactivated state and enhances the remobilization of gating charge). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.F1473F(2) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TCATGAGGGCGAACAGCAGCG 0.612000 28 27 0 0 0.00127121 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368548 18368549 + Missense_Mutation DNP GT AG AG TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:18368548_18368549GT>AG uc010ebn.2 - 3 3761_3762 c.3545_3546AC>CT c.(3544-3546)cac>cCT p.H1182P PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Missense_Mutation_p.H995P|KIAA1683_uc010xqe.1_Missense_Mutation_p.H949P|KIAA1683_uc010xqf.1_Non-coding_Transcript NM_001145304 NP_001138776 Q9H0B3 K1683_HUMAN Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA. 0 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GCATCTGCCAGTGCCGGGCTTG 0.678000 20 7 0 0 6.4e-05 0 0 XRN2 22803 broad.mit.edu 37 20 21328863 21328863 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:21328863C>T uc002wsf.1 + 17 1840 c.1745C>T c.(1744-1746)cCa>cTa p.P582L XRN2_uc002wsg.1_Missense_Mutation_p.P506L|XRN2_uc010zsk.1_Missense_Mutation_p.P528L NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA. 582 P -> S (in Ref. 1; AAQ13577). DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 GCAGACATGCCATCTGATTTT 0.348000 63 32 0 0 0.00283554 0 0 SERPINB7 8710 broad.mit.edu 37 18 61471570 61471570 + Nonsense_Mutation SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:61471570G>T uc002ljl.3 + 7 940 c.844G>T c.(844-846)Gag>Tag p.E282* SERPINB7_uc002ljm.3_Nonsense_Mutation_p.E282*|SERPINB7_uc010xet.2_Nonsense_Mutation_p.E265*|SERPINB7_uc010dqg.3_Nonsense_Mutation_p.E282* NM_001040147 NP_003775 O75635 SPB7_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA. 282 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) GTTCAAGATAGAGAAGAATTA 0.398000 37 11 0.000673444 0.00210748 0.000673444 1 0 OR2J2 26707 broad.mit.edu 37 6 29141693 29141693 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:29141693C>T uc011dlm.2 + 0 383 c.281C>T c.(280-282)tCg>tTg p.S94L NM_030905 NP_112167 O76002 OR2J2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA. 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S94*(2) endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 AAGACCATCTCGTATGCTGGT 0.473000 122 40 0 0 0.00128727 0 0 ZCCHC9 84240 broad.mit.edu 37 5 80604836 80604836 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:80604836C>T uc003khk.4 + 3 1097 c.607C>T c.(607-609)Ccc>Tcc p.P203S RNU5E-1_uc011cto.1_Intron|ZCCHC9_uc003khi.3_Missense_Mutation_p.P203S|ZCCHC9_uc003khj.3_Missense_Mutation_p.P203S NM_032280 NP_115656 Q8N567 ZCHC9_HUMAN Homo sapiens zinc finger, CCHC domain containing 9 (ZCCHC9), transcript variant 1, mRNA. 203 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1) 13 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34) TCCTGATAATCCCAAAGGACT 0.388000 39 15 0 0 0.000566183 0 0 YWHAG 7532 broad.mit.edu 37 7 75959023 75959023 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:75959023G>A uc011kgj.1 - 1 832 c.615C>T c.(613-615)atC>atT p.I205I NM_012479 NP_036611 P61981 1433G_HUMAN Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide (YWHAG), mRNA. 205 G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity cytosol insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 CAAGCTCGGCGATGGCGTCGT 0.592000 47 28 0 0 0.00127121 0 0 FAM193B 54540 broad.mit.edu 37 5 176951899 176951899 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:176951899G>A uc003mhu.3 - 5 1672 c.1583C>T c.(1582-1584)cCt>cTt p.P528L FAM193B_uc003mhr.3_Missense_Mutation_p.P32L|FAM193B_uc021yiw.1_Missense_Mutation_p.P154L|FAM193B_uc003mht.3_Missense_Mutation_p.P154L|FAM193B_uc003mhv.3_Missense_Mutation_p.P154L|FAM193B_uc003mhw.3_Non-coding_Transcript NM_001190946 NP_001177875 Q6IPW0 Q6IPW0_HUMAN Homo sapiens family with sequence similarity 193, member B (FAM193B), transcript variant 3, mRNA. 204 kidney(1)|large_intestine(3) 4 GTTGATGTCAGGCTGCTGCTC 0.582000 7 4 0 0 0.00024832 0 0 CASP14 23581 broad.mit.edu 37 19 15166855 15166855 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:15166855C>T uc010dzv.2 + 6 896 c.684C>T c.(682-684)aaC>aaT p.N228N NM_012114 NP_036246 P31944 CASPE_HUMAN Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA. 228 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 GGAAAACGAACCCTGAAATCC 0.512000 6 3 0 0 0.000602214 0 0 MYL3 4634 broad.mit.edu 37 3 46904857 46904857 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:46904857G>A uc003cql.1 - 0 117 c.24C>T c.(22-24)ccC>ccT p.P8P NM_000258 NP_000249 P08590 MYL3_HUMAN Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA. 8 cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis A band|I band|cytosol|muscle myosin complex actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle breast(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063) CATCCTTCTTGGGCTCTGGCT 0.602000 12 8 0 0 0.00307968 0 0 LMO3 55885 broad.mit.edu 37 12 16713469 16713469 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:16713469G>A uc010shz.2 - 4 501 c.276C>T c.(274-276)ctC>ctT p.L92L LMO3_uc001rdj.2_Silent_p.L81L|LMO3_uc010shy.2_Silent_p.L88L|LMO3_uc001rdk.2_Silent_p.L70L|LMO3_uc001rdl.2_Silent_p.L70L|LMO3_uc009zii.2_Non-coding_Transcript|LMO3_uc001rdn.2_Silent_p.L70L|LMO3_uc001rdm.2_Silent_p.L70L|LMO3_uc009zij.2_Non-coding_Transcript|LMO3_uc001rdo.2_Non-coding_Transcript|LMO3_uc001rdp.2_Non-coding_Transcript|LMO3_uc009zik.2_Non-coding_Transcript NM_001243613 NP_001230542 Q8TAP4 LMO3_HUMAN Homo sapiens LIM domain only 3 (rhombotin-like 2) (LMO3), transcript variant 7, mRNA. 70 LIM zinc-binding 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent zinc ion binding endometrium(2)|large_intestine(2)|skin(1) 5 Hepatocellular(102;0.244) TTACACCAAAGAGCCTAGAAT 0.403000 28 20 0 0 0.00121646 0 0 ABCG1 9619 broad.mit.edu 37 21 43710228 43710228 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:43710228G>A uc011aev.2 + 10 1436 c.1362G>A c.(1360-1362)ggG>ggA p.G454G ABCG1_uc002zam.3_Silent_p.G409G|ABCG1_uc002zan.3_Silent_p.G433G|ABCG1_uc002zao.3_Silent_p.G428G|ABCG1_uc002zap.3_Silent_p.G431G|ABCG1_uc002zaq.3_Silent_p.G443G|ABCG1_uc002zar.3_Silent_p.G442G|ABCG1_uc010gpb.2_Missense_Mutation_p.D84N NM_004915 NP_004906 P45844 ABCG1_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA. 443 ABC transmembrane type-2. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) TGTACTTGGGGATCGGGAACG 0.572000 63 27 0 0 0.00127121 0 0 IL17F 112744 broad.mit.edu 37 6 52103575 52103575 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:52103575G>A uc003pam.1 - 1 278 c.207C>T c.(205-207)tcC>tcT p.S69S IL17F_uc003pal.1_Silent_p.S15S NM_052872 NP_443104 Q96PD4 IL17F_HUMAN Homo sapiens interleukin 17F (IL17F), mRNA. 69 cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|cytokine binding|protein homodimerization activity p.M70L(1) NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1) 14 Lung NSC(77;0.116) TACGTGACATGGAAACGCGCT 0.443000 27 15 0 0 0.00244969 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87445337 87445337 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:87445337G>A uc002fjz.1 - 11 2606 c.2579C>T c.(2578-2580)cCa>cTa p.P860L ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Missense_Mutation_p.P636L NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA. 860 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) GACAGGGTCTGGGGTCCCGCT 0.657000 10 7 0 0 0.00307968 0 0 KANK3 256949 broad.mit.edu 37 19 8399516 8399516 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:8399516C>T uc010dwa.3 - 2 1261 c.1195G>A c.(1195-1197)Gag>Aag p.E399K KANK3_uc002mjp.1_5'Flank NM_198471 NP_940873 Q6NY19 KANK3_HUMAN Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA. 399 breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 GTGGTGGCCTCGCGTAGCTGG 0.741000 4 3 0 0 6.4e-05 0 0 MCM10 55388 broad.mit.edu 37 10 13214665 13214665 + Silent SNP T G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:13214665T>G uc001ima.3 + 4 623 c.495T>G c.(493-495)gtT>gtG p.V165V MCM10_uc001imb.3_Silent_p.V164V|MCM10_uc001imc.3_Silent_p.V164V NM_182751 NP_877428 Q7L590 MCM10_HUMAN Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA. 165 DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 AGAGGAGAGTTCAGAGAATTC 0.473000 54 12 0 0 0.00185496 0 0 UPF2 26019 broad.mit.edu 37 10 12041922 12041922 + Silent SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:12041922G>T uc001ila.3 - 5 2215 c.1741C>A c.(1741-1743)Cga>Aga p.R581R UPF2_uc001ilb.3_Silent_p.R581R|UPF2_uc001ilc.3_Silent_p.R581R|UPF2_uc009xiz.2_Silent_p.R581R NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA. 581 MIF4G 2. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm RNA binding|identical protein binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) ATCAGATCTCGGTTGACACAG 0.403000 488 12 0.00244969 0.00762403 0.00244969 1 0 TXK 7294 broad.mit.edu 37 4 48114430 48114430 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:48114430C>T uc003gxx.4 - 3 360 c.274G>A c.(274-276)Gat>Aat p.D92N TXK_uc003gxy.1_Missense_Mutation_p.D92N NM_003328 NP_003319 P42681 TXK_HUMAN Homo sapiens TXK tyrosine kinase (TXK), mRNA. 92 SH3. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 GGCAGAAAATCATAAAGTGCC 0.507000 70 36 0 0 0.00111076 0 0 ORAI1 84876 broad.mit.edu 37 12 122079438 122079438 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:122079438G>A uc021rff.1 + 1 994 c.801G>A c.(799-801)aaG>aaA p.K267K NM_032790 NP_116179 Q96D31 CRCM1_HUMAN Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA. 265 platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) TTAGCCATAAGACTGACCGAC 0.622000 62 19 0 0 0.00152264 0 0 RYR1 6261 broad.mit.edu 37 19 39017657 39017657 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:39017657G>A uc002oit.3 + 71 10781 c.10651G>A c.(10651-10653)Gaa>Aaa p.E3551K RYR1_uc002oiu.3_Missense_Mutation_p.E3546K|RYR1_uc002oiv.1_Missense_Mutation_p.E466K|RYR1_uc010xuf.1_Missense_Mutation_p.E471K NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 3551 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGAGGTCCGGGAATTTCTGCA 0.512000 32 10 0 0 0.00400662 0 0 PPP1R2P3 153743 broad.mit.edu 37 5 156278058 156278058 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:156278058C>T uc003lwf.1 + 0 510 c.485C>T c.(484-486)tCa>tTa p.S162L Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 (PPP1R2P3), non-coding RNA. CAATTAATTTCAAAAGACCTA 0.368000 73 35 0 0 0.00428921 0 0 LPHN2 23266 broad.mit.edu 37 1 82456779 82456779 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:82456779C>T uc001dit.4 + 20 4343 c.4162C>T c.(4162-4164)Cca>Tca p.P1388S LPHN2_uc001dis.3_Missense_Mutation_p.P368S|LPHN2_uc001diu.3_Missense_Mutation_p.P1388S|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Missense_Mutation_p.P1015S NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 1444 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.P1388P(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) agggtgtattccagAAGGAGA 0.418000 29 12 0 0 0.00136819 0 0 DSG4 147409 broad.mit.edu 37 18 28991307 28991307 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:28991307G>A uc002kwr.2 + 13 2443 c.2308G>A c.(2308-2310)Gga>Aga p.G770R DSG4_uc002kwq.2_Missense_Mutation_p.G751R NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 751 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) aggggccgcaggagcctcagg 0.622000 32 20 0 0 0.00188189 0 0 MDGA1 266727 broad.mit.edu 37 6 37619992 37619992 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:37619992G>A uc003onu.1 - 6 2286 c.1107C>T c.(1105-1107)taC>taT p.Y369Y MDGA1_uc003onw.3_Non-coding_Transcript NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA. 369 Ig-like 4. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 TGAACCACTGGTAGGTCACCT 0.587000 80 23 0 0 0.00106085 0 0 STXBP5L 9515 broad.mit.edu 37 3 120941851 120941851 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:120941851G>A uc003eec.4 + 11 1097 c.957_splice c.e11-1 p.S319_splice STXBP5L_uc011bji.2_Splice_Site_p.S319_splice NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 319 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CCTATGTAGCGAACCATTCAT 0.368000 73 27 0 0 0.00178596 0 0 MYBL2 4605 broad.mit.edu 37 20 42328486 42328486 + Silent SNP G A A rs144342758 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:42328486G>A uc002xlb.1 + 6 968 c.753G>A c.(751-753)tcG>tcA p.S251S MYBL2_uc010zwj.1_Silent_p.S227S NM_002466 NP_002457 P10244 MYBB_HUMAN Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA. 251 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.S251L(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CCACCACATCGAAGGAACAGG 0.572000 11 7 0 0 0.00307968 0 0 CDKL1 8814 broad.mit.edu 37 14 50844945 50844945 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:50844945G>A uc010anu.2 - 8 1304 c.1304C>T c.(1303-1305)cCc>cTc p.P435L CDKL1_uc001wxz.3_Intron NM_004196 NP_004187 Q00532 CDKL1_HUMAN Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA. 0 cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1) 12 all_epithelial(31;0.000746)|Breast(41;0.0102) cttaggagggggatgcctgtc 0.502000 18 14 0 0 0.00316338 0 0 NEB 4703 broad.mit.edu 37 2 152512943 152512943 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:152512943C>T uc021vrb.1 - 46 6248 c.6219G>A c.(6217-6219)ggG>ggA p.G2073G NEB_uc002txu.3_Silent_p.G2073G|NEB_uc021vrc.1_Silent_p.G2073G|NEB_uc010fnx.3_Silent_p.G2073G|NEB_uc021vrd.1_Silent_p.G2073G NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 2073 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CAACCATTTTCCCCTTCCCTT 0.373000 85 25 0 0 0.00127121 0 0 LILRB4 11006 broad.mit.edu 37 19 55175926 55175926 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55175926C>T uc002qgp.3 + 3 1007 c.645C>T c.(643-645)ctC>ctT p.L215L LILRB4_uc002qgq.3_Silent_p.L215L|LILRB4_uc010ers.1_Silent_p.L128L|LILRB4_uc010ert.3_Silent_p.L256L|LILRB4_uc010eru.3_Silent_p.L244L NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 215 Ig-like C2-type 2. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) CCCTGGAGCTCATAGTCTCAG 0.622000 33 10 0 0 0.000673444 0 0 IFT140 9742 broad.mit.edu 37 16 1573895 1573895 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:1573895G>A uc002cmb.3 - 24 3566 c.3204C>T c.(3202-3204)atC>atT p.I1068I IFT140_uc002clz.3_Silent_p.I681I NM_014714 NP_055529 Q96RY7 IF140_HUMAN Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA. 1068 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) GGGCCGCCTCGATCATGTCCT 0.667000 26 11 0 0 0.00185496 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23814447 23814447 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:23814447C>T uc003gqs.3 - 9 2062 c.1942G>A c.(1942-1944)Gaa>Aaa p.E648K PPARGC1A_uc003gqt.3_Non-coding_Transcript NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA. 648 RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|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|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding p.E648D(1) central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) CGATATTCTTCCCTCTTCAGC 0.468000 103 55 0 0 0.00361006 0 0 GCNT4 51301 broad.mit.edu 37 5 74324903 74324903 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:74324903G>A uc003kdn.3 - 0 1822 c.960C>T c.(958-960)atC>atT p.I320I NM_016591 NP_057675 Q9P109 GCNT4_HUMAN Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA. 320 protein O-linked glycosylation Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) AGTCTTGAACGATGGAGTTGT 0.408000 30 18 0 0 0.00229938 0 0 STXBP5L 9515 broad.mit.edu 37 3 120924828 120924828 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:120924828A>T uc003eec.4 + 9 1076 c.936A>T c.(934-936)gaA>gaT p.E312D STXBP5L_uc011bji.2_Missense_Mutation_p.E312D NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 312 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TTAAAGTAGAATACAAGACCT 0.279000 44 27 0 0 0.00209593 0 0 MYOCD 93649 broad.mit.edu 37 17 12639612 12639612 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:12639612G>A uc002gno.2 + 5 849 c.550G>A c.(550-552)Gcc>Acc p.A184T MYOCD_uc002gnn.2_Missense_Mutation_p.A184T|MYOCD_uc002gnp.1_Missense_Mutation_p.A88T NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 184 HDAC5-binding (By similarity). 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 RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|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) AGACGCTAAAGCCTCAGATAC 0.473000 50 27 0 0 0.000720815 0 0 POLQ 10721 broad.mit.edu 37 3 121251894 121251894 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:121251894G>A uc003eee.4 - 5 1032 c.903C>T c.(901-903)tcC>tcT p.S301S NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 301 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) AGTCATATATGGAATTTCCAA 0.393000 DNA polymerases (catalytic subunits) 46 19 0 0 0.00121646 0 0 EPHA7 2045 broad.mit.edu 37 6 94066711 94066711 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:94066711C>T uc003poe.3 - 4 1289 c.1048G>A c.(1048-1050)Gaa>Aaa p.E350K EPHA7_uc003pof.3_Missense_Mutation_p.E350K|EPHA7_uc011eac.2_Missense_Mutation_p.E350K NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 350 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GGACTCCATTCCAAACTTACT 0.453000 54 23 0 0 0.000720815 0 0 PSG4 5672 broad.mit.edu 37 19 43699191 43699191 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:43699191C>T uc002ovy.3 - 3 1046 c.944G>A c.(943-945)cGa>cAa p.R315Q PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.R222Q NM_002780 NP_002771 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA. 315 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GCCACCATATCGGTCCCGTAT 0.488000 119 58 0 0 0.00361006 0 0 UBE4A 9354 broad.mit.edu 37 11 118252157 118252157 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:118252157C>T uc001psw.3 + 11 2063 c.1928C>T c.(1927-1929)gCc>gTc p.A643V UBE4A_uc001psv.3_Missense_Mutation_p.A650V NM_001204077 NP_001191006 Q14139 UBE4A_HUMAN Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA. 643 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) CGCCGCTTTGCCGATGACATT 0.398000 50 45 0 0 0.00361006 0 0 SLC9A2 6549 broad.mit.edu 37 2 103317550 103317550 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:103317550A>T uc002tca.3 + 7 1750 c.1608A>T c.(1606-1608)aaA>aaT p.K536N NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA. 536 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TTGATGATAAATATCTGCGGA 0.294000 36 17 0 0 0.00074312 0 0 KLHL30 377007 broad.mit.edu 37 2 239049908 239049908 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:239049908C>T uc002vxr.2 + 1 620 c.513C>T c.(511-513)ttC>ttT p.F171F NM_198582 NP_940984 Q0D2K2 KLH30_HUMAN Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA. 171 BACK. lung(4) 4 Breast(86;7.61e-05)|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;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) AGGACGAGTTCCTGCAGCTTC 0.657000 13 4 0 0 0.00024832 0 0 WNT8A 7478 broad.mit.edu 37 5 137419860 137419860 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:137419860C>T uc011cyk.1 + 0 280 c.44C>T c.(43-45)cCa>cTa p.P15L WNT8A_uc011cyj.1_Missense_Mutation_p.P15L|WNT8A_uc003lcd.1_Intron Q9H1J5 WNT8A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA. 0 Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AGTCCTTTCCCAACCCTCACT 0.532000 39 16 0 0 0.00400662 0 0 IL12A 3592 broad.mit.edu 37 3 159713239 159713239 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:159713239G>A uc003fcx.3 + 6 876 c.655G>A c.(655-657)Gaa>Aaa p.E219K AK097161_uc003fcw.1_Intron NM_000882 NP_000873 P29459 IL12A_HUMAN Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA. 185 cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NK T cell activation|positive regulation of T cell mediated cytotoxicity|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of smooth muscle cell apoptosis|positive regulation of tyrosine phosphorylation of Stat4 protein|response to UV-B|response to lipopolysaccharide|response to virus interleukin-12 complex cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4) 9 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CTCCCTTGAAGAACCGGATTT 0.383000 50 29 0 0 0.00127121 0 0 ARPP21 10777 broad.mit.edu 37 3 35732458 35732458 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:35732458G>A uc011axy.2 + 7 859 c.647G>A c.(646-648)gGa>gAa p.G216E ARPP21_uc003cga.3_Missense_Mutation_p.G216E|ARPP21_uc003cgb.3_Missense_Mutation_p.G216E|ARPP21_uc003cgf.3_Missense_Mutation_p.G52E NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA. 216 R3H. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GATCAAACAGGAAAATCTGTT 0.378000 49 39 0 0 0.00195071 0 0 HIVEP2 3097 broad.mit.edu 37 6 143090817 143090817 + Missense_Mutation SNP T G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:143090817T>G uc003qjd.3 - 4 5802 c.5059A>C c.(5059-5061)Acc>Ccc p.T1687P NM_006734 NP_006725 P31629 ZEP2_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA. 1687 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GTGGTCTTGGTGTTCAATCCT 0.448000 65 24 0 0 0.00106085 0 0 DNAH17 8632 broad.mit.edu 37 17 76490830 76490830 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:76490830G>A uc010dhp.2 - 39 6240 c.6115C>T c.(6115-6117)Ccc>Tcc p.P2039S AK127460_uc002jvt.1_5'Flank NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. 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) GCCCGGCTGGGGTCGCCCCTC 0.627000 19 19 0 0 0.000958276 0 0 FRAS1 80144 broad.mit.edu 37 4 79360134 79360134 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:79360134C>T uc003hlb.2 + 39 5885 c.5445C>T c.(5443-5445)aaC>aaT p.N1815N FRAS1_uc003hkw.3_Silent_p.N1815N|FRAS1_uc010ijj.2_Silent_p.N235N NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 1814 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 TGGACCACAACCATCTGGATA 0.383000 129 54 0 0 0.00361006 0 0 PLEC 5339 broad.mit.edu 37 8 144998577 144998577 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:144998577G>A uc003zaf.1 - 30 6101 c.5931C>T c.(5929-5931)gcC>gcT p.A1977A PLEC_uc003zab.1_Silent_p.A1840A|PLEC_uc003zac.1_Silent_p.A1844A|PLEC_uc003zad.2_Silent_p.A1840A|PLEC_uc003zae.1_Silent_p.A1808A|PLEC_uc003zag.1_Silent_p.A1818A|PLEC_uc003zah.2_Silent_p.A1826A|PLEC_uc003zaj.2_Silent_p.A1867A NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 1977 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGCCGATGGCGGCCAGCTTCT 0.741000 12 5 0 0 0.00116845 0 0 COBL 23242 broad.mit.edu 37 7 51097239 51097239 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:51097239G>A uc003tps.3 - 10 1910 c.1725C>T c.(1723-1725)atC>atT p.I575I COBL_uc003tpr.4_Silent_p.I518I|COBL_uc011kcl.2_Silent_p.I518I|COBL_uc003tpp.4_Silent_p.I304I|COBL_uc003tpq.4_Silent_p.I459I|COBL_uc003tpo.4_Silent_p.I60I NM_015198 NP_056013 O75128 COBL_HUMAN Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA. 518 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) ATGCACCATGGATGGAGCTGG 0.488000 59 27 0 0 0.0024448 0 0 LAMB3 3914 broad.mit.edu 37 1 209806442 209806442 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:209806442G>A uc001hhg.3 - 5 991 c.601C>T c.(601-603)Cca>Tca p.P201S LAMB3_uc009xco.3_Missense_Mutation_p.P201S|LAMB3_uc001hhh.3_Missense_Mutation_p.P201S|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Missense_Mutation_p.P137S NM_001017402 NP_001121113 Q13751 LAMB3_HUMAN Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA. 201 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) TGAGTTGCTGGAATCCCAGAC 0.463000 39 24 0 0 0.00127121 0 0 SLC22A16 85413 broad.mit.edu 37 6 110778126 110778126 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:110778126G>A uc003puf.3 - 1 215 c.148C>T c.(148-150)Cat>Tat p.H50Y SLC22A16_uc003pue.3_Missense_Mutation_p.H63Y|SLC22A16_uc003pug.3_Missense_Mutation_p.H50Y NM_033125 NP_149116 Q86VW1 S22AG_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA. 50 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) CTGCAGACATGATGAGGGGTG 0.488000 44 20 0 0 0.000958276 0 0 PHF12 57649 broad.mit.edu 37 17 27233206 27233206 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:27233206G>A uc002hdg.1 - 14 3540 c.3010C>T c.(3010-3012)Cct>Tct p.P1004S PHF12_uc010wbb.1_Missense_Mutation_p.P986S NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA. 1004 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) CAGTCCTAAGGAACAGAGTTG 0.587000 24 12 0 0 0.00136819 0 0 INO80D 54891 broad.mit.edu 37 2 206921299 206921299 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:206921299G>A uc002vaz.4 - 3 992 c.587C>T c.(586-588)cCc>cTc p.P196L NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN Homo sapiens INO80 complex subunit D (INO80D), mRNA. 196 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 TGCAGGAGGGGGACTAAAGTG 0.537000 8 5 0 0 0.000602214 0 0 OR1J4 26219 broad.mit.edu 37 9 125281448 125281448 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:125281448C>T uc011lyw.2 + 0 29 c.29C>T c.(28-30)tCt>tTt p.S10F NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA. 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 AGCAGTGTGTCTGAGTTCCTC 0.502000 96 22 0 0 0.00278032 0 0 CYP4F8 11283 broad.mit.edu 37 19 15739113 15739113 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:15739113G>A uc002nbi.3 + 11 1177 c.1113_splice c.e11-1 p.W371_splice CYP4F8_uc010xoj.2_Splice_Site_p.W184_splice NM_007253 NP_009184 P98187 CP4F8_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA. 372 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 TTTCCTTAGGGACGACCTGGC 0.602000 66 28 0 0 0.00283554 0 0 EIF2C3 192669 broad.mit.edu 37 1 36439011 36439011 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:36439011C>T uc001bzp.3 + 4 902 c.557C>T c.(556-558)cCa>cTa p.P186L EIF2C3_uc001bzn.1_Missense_Mutation_p.P186L|EIF2C3_uc001bzq.3_Intron NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA. 186 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol RNA binding|protein binding p.A185T(1) NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4) 33 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTCTCCGCTCCAGAAGGATAT 0.443000 77 63 0 0 0.00361006 0 0 SORBS1 10580 broad.mit.edu 37 10 97097047 97097047 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:97097047G>A uc001kkp.3 - 27 2915 c.2870C>T c.(2869-2871)tCc>tTc p.S957F SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.S911F|SORBS1_uc010qoe.2_Intron NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA. 957 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 SH3/SH2 adaptor activity|actin binding|insulin receptor binding 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) GCTGTGACTGGAAAACTTaaa 0.478000 4 7 0 0 0.00307968 0 0 HEATR1 55127 broad.mit.edu 37 1 236736086 236736086 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:236736086G>A uc001hyd.2 - 24 3654 c.3502C>T c.(3502-3504)Cca>Tca p.P1168S HEATR1_uc009xgh.2_Missense_Mutation_p.P330S NM_018072 NP_060542 Q9H583 HEAT1_HUMAN Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA. 1168 rRNA processing nucleolus|ribonucleoprotein complex protein binding p.P1167A(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GCTTTATCTGGTGGCTCCAGT 0.393000 211 100 0 0 0.00361006 0 0 NLRP8 126205 broad.mit.edu 37 19 56490864 56490864 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:56490864G>A uc002qmh.3 + 8 3052 c.2981G>A c.(2980-2982)gGa>gAa p.G994E NLRP8_uc010etg.3_Missense_Mutation_p.G975E NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 994 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AATGCGATTGGAGTCTATGGT 0.488000 95 35 0 0 0.000953801 0 0 TCOF1 6949 broad.mit.edu 37 5 149754238 149754238 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:149754238C>T uc003lry.3 + 8 1250 c.1142C>T c.(1141-1143)tCc>tTc p.S381F TCOF1_uc003lrw.3_Missense_Mutation_p.S381F|TCOF1_uc003lrz.3_Missense_Mutation_p.S381F|TCOF1_uc011dch.2_Missense_Mutation_p.S381F|TCOF1_uc003lrx.3_Missense_Mutation_p.S304F|TCOF1_uc003lsa.3_Missense_Mutation_p.S304F|TCOF1_uc011dci.1_5'Flank NM_001135243 NP_001128715 Q13428 TCOF_HUMAN Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA. 381 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCCAAGGAGTCCCCCAGGAAA 0.657000 38 11 0 0 0.000978159 0 0 ZBTB1 22890 broad.mit.edu 37 14 64988779 64988779 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:64988779C>T uc021rul.1 + 0 557 c.557C>T c.(556-558)cCt>cTt p.P186L ZBTB1_uc001xhh.4_Missense_Mutation_p.P186L|ZBTB1_uc010aqg.3_Missense_Mutation_p.P186L|ZBTB1_uc001xhi.2_Missense_Mutation_p.P186L|ZBTB1_uc021rum.1_5'Flank NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN Homo sapiens zinc finger and BTB domain containing 1 (ZBTB1), transcript variant 1, mRNA. 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) GGTAATTTTCCTGAGCCACTA 0.413000 25 17 0 0 0.00074312 0 0 SLC44A2 57153 broad.mit.edu 37 19 10741781 10741781 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:10741781C>T uc002mpf.3 + 4 433 c.294C>T c.(292-294)ccC>ccT p.P98P SLC44A2_uc002mpe.4_Silent_p.P96P NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA. 98 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) GTGCCAGCCCCCTGGTTCTGC 0.458000 69 37 0 0 0.00111076 0 0 ZNF556 80032 broad.mit.edu 37 19 2877312 2877312 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:2877312G>A uc002lwp.1 + 3 443 c.356G>A c.(355-357)gGt>gAt p.G119D ZNF556_uc002lwq.3_Missense_Mutation_p.G118D NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN Homo sapiens zinc finger protein 556 (ZNF556), mRNA. 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 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) AGCAGTAAAGGTAATAAACGT 0.363000 21 9 0 0 0.000274275 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140221721 140221721 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140221721G>A uc003lhs.2 + 0 815 c.815G>A c.(814-816)gGa>gAa p.G272E PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.G272E NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 287 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGGATGAAGGAGCCAATGGG 0.398000 42 26 0 0 0.00395357 0 0 MBD5 55777 broad.mit.edu 37 2 149247566 149247566 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:149247566C>T uc002twm.4 + 11 4663 c.3666C>T c.(3664-3666)atC>atT p.I1222I MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Silent_p.I480I|MBD5_uc002twp.3_Silent_p.I272I NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 1222 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) CAGGCCATATCCACAGTAGTC 0.502000 61 24 0 0 0.00229938 0 0 LPAR3 23566 broad.mit.edu 37 1 85331711 85331711 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:85331711C>T uc001dkl.2 - 0 132 c.93G>A c.(91-93)gtG>gtA p.V31V LPAR3_uc009wcj.1_Silent_p.V31V NM_012152 NP_036284 Q9UBY5 LPAR3_HUMAN Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA. 31 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 ACAAAACAATCACAAGCTTTG 0.383000 147 45 0 0 0.00285205 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642863 1642863 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:1642863G>A uc009ycy.1 - 2 443 c.356C>T c.(355-357)tCc>tTc p.S119F MOB2_uc001ltq.2_Intron NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA. 214 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) CTGGCAGCAGGATGACCCACA 0.622000 86 46 0 0 0.00361006 0 0 NWD1 284434 broad.mit.edu 37 19 16860421 16860421 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:16860421G>A uc002neu.4 + 5 1390 c.968G>A c.(967-969)gGg>gAg p.G323E NWD1_uc002net.4_Missense_Mutation_p.G188E|NWD1_uc002nev.4_Missense_Mutation_p.G117E|NWD1_uc021uqg.1_Missense_Mutation_p.G188E NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 323 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCCCGGCTTGGGCAGCAGCTC 0.617000 33 13 0 0 0.00316338 0 0 FOLH1 2346 broad.mit.edu 37 11 49175467 49175467 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:49175467G>A uc001ngy.3 - 16 2162 c.1901C>T c.(1900-1902)tCt>tTt p.S634F FOLH1_uc001ngx.3_Missense_Mutation_p.S66F|FOLH1_uc009yly.3_Missense_Mutation_p.S619F|FOLH1_uc009ylz.3_Missense_Mutation_p.S619F|FOLH1_uc001ngz.3_Missense_Mutation_p.S634F|FOLH1_uc009yma.3_Missense_Mutation_p.S326F NM_004476 NP_001180402 Q04609 FOLH1_HUMAN Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA. 634 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) CTTTACTGCAGAAAAAAGTGA 0.328000 47 16 0 0 0.000566183 0 0 ACE 1636 broad.mit.edu 37 17 61557233 61557233 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:61557233G>A uc002jau.2 + 3 649 c.615G>A c.(613-615)gaG>gaA p.E205E ACE_uc010wpi.2_Silent_p.E205E|ACE_uc010ddu.2_Silent_p.E22E NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 205 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CGCTGTACGAGGATTTCACTG 0.612000 22 7 0 0 0.00198382 0 0 SCARF1 8578 broad.mit.edu 37 17 1540267 1540267 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:1540267G>A uc002fsz.1 - 8 1504 c.1454C>T c.(1453-1455)tCc>tTc p.S485F SCARF1_uc002fsy.1_Missense_Mutation_p.S485F|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.S399F NM_003693 NP_003684 Q14162 SREC_HUMAN Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA. 485 Pro/Ser-rich. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGAGCTGAGGGAACGGCAGGG 0.657000 19 19 0 0 0.000958276 0 0 KEL 3792 broad.mit.edu 37 7 142643326 142643326 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:142643326G>A uc003wcb.3 - 10 1492 c.1282C>T c.(1282-1284)Cgt>Tgt p.R428C NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 428 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) AAGGCCTCACGAACAAACAAA 0.592000 27 10 0 0 0.000978159 0 0 HNF1A 6927 broad.mit.edu 37 12 121416709 121416709 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:121416709G>A uc001tzg.3 + 0 161 c.138G>A c.(136-138)aaG>aaA p.K46K HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Silent_p.K46K|HNF1A_uc001tzf.3_Silent_p.K46K|HNF1A_uc010szn.2_Silent_p.K46K|HNF1A_uc021rfa.1_Silent_p.K46K|HNF1A_uc021rfb.1_5'UTR|HNF1A_uc021rfc.1_Non-coding_Transcript NM_000545 NP_000536 P20823 HNF1A_HUMAN Homo sapiens HNF1 homeobox A (HNF1A), mRNA. 46 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.D45fs*9(2)|p.D45fs*102(2)|p.Y36fs*107(1)|p.?(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCCTGGACAAGGGGGAGTCCT 0.697000 Hepatic Adenoma, Familial Clustering of 139 63 0 0 0.00361006 0 0 COLEC10 10584 broad.mit.edu 37 8 120116118 120116118 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:120116118G>A uc003yoo.3 + 4 523 c.426G>A c.(424-426)atG>atA p.M142I NM_006438 NP_006429 Q9Y6Z7 COL10_HUMAN Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA. 142 collagen|cytoplasm mannose binding endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) AGACATCTATGAAGTTTGTCA 0.353000 49 17 0 0 0.000566183 0 0 DNAH5 1767 broad.mit.edu 37 5 13900364 13900364 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:13900364G>A uc003jfd.2 - 14 2252 c.2210C>T c.(2209-2211)tCc>tTc p.S737F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 737 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTGGAAGAGGGAAGTTGCCAG 0.408000 Kartagener syndrome 46 20 0 0 0.00278032 0 0 KCNC1 3746 broad.mit.edu 37 11 17794027 17794027 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:17794027G>A uc009yhc.1 + 1 1441 c.1386G>A c.(1384-1386)cgG>cgA p.R462R KCNC1_uc001mnk.4_Silent_p.R462R NM_001112741 NP_001106212 P48547 KCNC1_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA. 462 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 ATATTCCGCGGCCACCGCAGC 0.478000 48 18 0 0 0.000566183 0 0 ERBB4 2066 broad.mit.edu 37 2 212570094 212570094 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:212570094C>T uc002veg.1 - 9 1245 c.1147G>A c.(1147-1149)Gcc>Acc p.A383T ERBB4_uc002veh.1_Missense_Mutation_p.A383T|ERBB4_uc010zji.1_Missense_Mutation_p.A383T|ERBB4_uc010zjj.1_Missense_Mutation_p.A383T|ERBB4_uc010fut.1_Missense_Mutation_p.A383T NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 383 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GGGTCTATGGCTTCAATTGCA 0.323000 TSP Lung(8;0.080) 94 24 0 0 0.00127121 0 0 RICTOR 253260 broad.mit.edu 37 5 38964940 38964940 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:38964940G>A uc003jlo.2 - 15 1376 c.1354C>T c.(1354-1356)Cta>Tta p.L452L RICTOR_uc003jlp.2_Silent_p.L452L|RICTOR_uc010ivf.2_Silent_p.L167L NM_152756 NP_689969 Q6R327 RICTR_HUMAN Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA. 452 T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade TORC2 complex|cytosol protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) ATATTCATTAGGGTTGGCAAG 0.338000 43 16 0 0 0.00121646 0 0 UVSSA 57654 broad.mit.edu 37 4 1343519 1343519 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:1343519C>T uc003gde.4 + 2 753 c.306C>T c.(304-306)ccC>ccT p.P102P NM_020894 NP_065945 Q2YD98 K1530_HUMAN Homo sapiens KIAA1530 (KIAA1530), mRNA. 102 TGCCGCCCCCCAGGGAGGCGG 0.637000 12 14 0 0 0.00316338 0 0 PHF15 23338 broad.mit.edu 37 5 133895526 133895527 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:133895526_133895527CC>TT uc003kzk.2 + 4 404_405 c.366_367CC>TT c.(364-369)ctccca>ctTTca p.P123S PHF15_uc011cxt.1_Missense_Mutation_p.P107S|PHF15_uc003kzl.2_Missense_Mutation_p.P107S|PHF15_uc003kzm.2_Missense_Mutation_p.P107S|PHF15_uc003kzn.2_Missense_Mutation_p.P107S|PHF15_uc003kzo.1_Missense_Mutation_p.P107S NM_015288 NP_056103 Q9NQC1 JADE2_HUMAN Homo sapiens PHD finger protein 15 (PHF15), mRNA. 107 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTAGGATCCTCCCACCACTGGA 0.634000 25 4 0 0 6.4e-05 0 0 GATA3 2625 broad.mit.edu 37 10 8115931 8115931 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:8115931C>T uc001ijz.3 + 5 1837 c.1280C>T c.(1279-1281)tCc>tTc p.S427F GATA3_uc001ika.3_Missense_Mutation_p.S426F NM_001002295 NP_001002295 P23771 GATA3_HUMAN Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA. 426 T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding p.S427fs*>20(1)|p.S427fs*21(1)|p.S428fs*>18(1) NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 CACCCGCCATCCAGCCTGTCC 0.662000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 57 24 0 0 0.00209593 0 0 ZNF121 7675 broad.mit.edu 37 19 9676819 9676819 + Missense_Mutation SNP A C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9676819A>C uc010xkp.1 - 3 1202 c.970T>G c.(970-972)Tct>Gct p.S324A ZNF121_uc010dwt.2_Missense_Mutation_p.S324A|ZNF121_uc010xkq.1_Missense_Mutation_p.S324A NM_001008727 NP_001008727 P58317 ZN121_HUMAN Homo sapiens zinc finger protein 121 (ZNF121), mRNA. 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 24 AGTTGTGAAGATGTAGCAAAG 0.393000 38 25 0 0 0.00332997 0 0 UBE3A 7337 broad.mit.edu 37 15 25585360 25585360 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:25585360G>A uc001zaq.3 - 12 3139 c.2379C>T c.(2377-2379)atC>atT p.I793I SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Silent_p.I770I|UBE3A_uc001zas.3_Silent_p.I790I|UBE3A_uc001zat.3_Silent_p.I770I NM_000462 NP_570853 Q05086 UBE3A_HUMAN Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA. 793 HECT. brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity p.I793F(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) ATGAATGAACGATTTCCCAGA 0.363000 24 20 0 0 0.00188189 0 0 SCN8A 6334 broad.mit.edu 37 12 52200418 52200418 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:52200418C>T uc001ryw.3 + 26 5326 c.5148C>T c.(5146-5148)aaC>aaT p.N1716N SCN8A_uc010snl.2_Silent_p.N1675N NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA. 1716 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CCATCCTAAACCGCCCCCCTG 0.507000 40 16 0 0 0.00316338 0 0 FAM123C 205147 broad.mit.edu 37 2 131520966 131520966 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:131520966G>A uc021voy.1 + 0 1321 c.1321G>A c.(1321-1323)Gac>Aac p.D441N FAM123C_uc002trw.2_Missense_Mutation_p.D441N|FAM123C_uc010fmv.2_Missense_Mutation_p.D441N|FAM123C_uc010fms.1_Missense_Mutation_p.D441N|FAM123C_uc010fmt.1_Missense_Mutation_p.D441N|FAM123C_uc010fmu.1_Missense_Mutation_p.D441N NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 441 p.D440N(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CCCAGATGATGACCTGTGCGT 0.662000 37 15 0 0 0.00074312 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12888155 12888155 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:12888155G>A uc002gnr.4 + 19 2574 c.2247G>A c.(2245-2247)tcG>tcA p.S749S ARHGAP44_uc010vvk.2_Silent_p.S749S|ARHGAP44_uc010vvl.2_Silent_p.S743S|ARHGAP44_uc002gns.4_Silent_p.S543S|ARHGAP44_uc010vvm.2_Silent_p.S743S|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc021tqh.1_5'Flank NM_014859 NP_055674 Q17R89 RHG44_HUMAN Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA. 749 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 TAAACCTCTCGGCCTCTAGTC 0.567000 21 13 0 0 0.00244969 0 0 CANT1 124583 broad.mit.edu 37 17 76993539 76993539 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:76993539G>A uc002jwj.3 - 1 661 c.166C>T c.(166-168)Ctc>Ttc p.L56F CANT1_uc002jwn.3_Missense_Mutation_p.L56F|CANT1_uc002jwk.3_Missense_Mutation_p.L56F|CANT1_uc002jwl.2_Non-coding_Transcript NM_138793 NP_620148 Q8WVQ1 CANT1_HUMAN Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA. 56 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) AGCAGCCAGAGGATGGCAGCA 0.692000 T ETV4 prostate 8 8 0 0 0.000274275 0 0 MARC1 64757 broad.mit.edu 37 1 220970051 220970051 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:220970051C>T uc001hmt.3 + 2 764 c.516C>T c.(514-516)ttC>ttT p.F172F MARC1_uc001hms.3_Silent_p.F172F NM_022746 NP_073583 Q5VT66 MOSC1_HUMAN Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA. 172 molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding TAACCAGCTTCCTGAAGTCAC 0.602000 26 9 0 0 0.000673444 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33400470 33400470 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:33400470C>T uc011dri.2 + 4 591 c.396C>T c.(394-396)ttC>ttT p.F132F SYNGAP1_uc003oeo.1_Silent_p.F117F|SYNGAP1_uc010juy.3_Silent_p.F117F NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA. 132 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 AGCAAGGCTTCCTGAGCCGAC 0.577000 20 4 0 0 0.00024832 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6473925 6473925 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:6473925T>A uc003gjc.3 - 0 249 c.32A>T c.(31-33)aAc>aTc p.N11I PPP2R2C_uc011bwd.2_Intron|PPP2R2C_uc011bwe.2_Intron NM_001206996 NP_001193925 Q9Y2T4 2ABG_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 5, mRNA. 11 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 GAAGCTGTGGTTAATTTTCCG 0.657000 96 47 0 0 0.00361006 0 0 MUC16 94025 broad.mit.edu 37 19 9068032 9068032 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9068032C>T uc002mkp.3 - 2 19618 c.19414G>A c.(19414-19416)Ggg>Agg p.G6472R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6474 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 GAGTGGGTCCCTGCCTGTGAG 0.488000 82 38 0 0 0.00195071 0 0 CD164L2 388611 broad.mit.edu 37 1 27706566 27706567 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:27706566_27706567CC>TT uc001boc.3 - 4 568_569 c.492_493GG>AA c.(490-495)aaggcc>aaAAcc p.A165T NM_207397 NP_997280 Q6UWJ8 C16L2_HUMAN Homo sapiens CD164 sialomucin-like 2 (CD164L2), mRNA. 165 integral to membrane endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CTGTCCTTGGCCTTGAGGAAGT 0.599000 60 53 0 0 6.4e-05 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62390905 62390905 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:62390905C>T uc003peg.2 - 8 1260 c.1013G>A c.(1012-1014)aGa>aAa p.R338K NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA. 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) GTATCCCCCTCTGGCTGACCT 0.493000 29 22 0 0 0.00278032 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140720539 140720539 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140720539G>A uc003ljk.2 + 0 2186 c.2001G>A c.(1999-2001)agG>agA p.R667R PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.R667R NM_018915 NP_061738 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA. 669 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCCGACAGGATCCCCGACA 0.682000 45 22 0 0 0.00395357 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26900643 26900643 + Missense_Mutation SNP C G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:26900643C>G uc001bmr.1 + 21 2322 c.2159C>G c.(2158-2160)tCc>tGc p.S720C RPS6KA1_uc010ofe.1_Missense_Mutation_p.S628C|RPS6KA1_uc001bms.1_Missense_Mutation_p.S729C|RPS6KA1_uc009vsl.1_Missense_Mutation_p.S563C NM_002953 NP_002944 Q15418 KS6A1_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA. 720 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) ATCGAGTCATCCATCCTGGCC 0.627000 36 31 0 0 0.0024448 0 0 ITGA7 3679 broad.mit.edu 37 12 56090745 56090745 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:56090745C>T uc001shh.3 - 11 1907 c.1687G>A c.(1687-1689)Ggc>Agc p.G563S ITGA7_uc001shg.3_Missense_Mutation_p.G559S|ITGA7_uc010sps.2_Missense_Mutation_p.G466S|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Missense_Mutation_p.G440S NM_001144996 NP_001138468 Q13683 ITA7_HUMAN Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA. 603 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CACACGGTGCCCGAGGCCTGG 0.602000 21 14 0 0 0.00316338 0 0 C4orf22 255119 broad.mit.edu 37 4 81504291 81504291 + Missense_Mutation SNP C T T rs142731425 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:81504291C>T uc010ijp.3 + 2 336 c.287C>T c.(286-288)aCg>aTg p.T96M C4orf22_uc003hmf.3_Missense_Mutation_p.T96M NM_001206997 NP_001193926 Q6V702 CD022_HUMAN Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA. 96 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 AATTTTCTGACGGCCCTGGCA 0.353000 57 33 0 0 0.00128727 0 0 MECOM 2122 broad.mit.edu 37 3 168845701 168845701 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:168845701T>A uc011bpj.1 - 4 1164 c.761A>T c.(760-762)aAt>aTt p.N254I MECOM_uc010hwk.1_Missense_Mutation_p.N89I|MECOM_uc003ffj.3_Missense_Mutation_p.N130I|MECOM_uc003ffi.3_Missense_Mutation_p.N66I|MECOM_uc011bpi.1_Missense_Mutation_p.N66I|MECOM_uc003ffn.3_Missense_Mutation_p.N66I|MECOM_uc003ffk.2_Missense_Mutation_p.N66I|MECOM_uc003ffl.2_Missense_Mutation_p.N226I|MECOM_uc011bpk.1_Missense_Mutation_p.N66I|MECOM_uc010hwn.2_Missense_Mutation_p.N254I|MECOM_uc003ffm.1_Missense_Mutation_p.N130I NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TTGGAGATCATTCTCGCTTTC 0.413000 118 39 0 0 0.00222228 0 0 PDGFRA 5156 broad.mit.edu 37 4 55131142 55131142 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:55131142G>A uc003han.4 + 4 1016 c.685G>A c.(685-687)Gaa>Aaa p.E229K PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.E123K|PDGFRA_uc003ham.2_Non-coding_Transcript NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 229 Ig-like C2-type 3. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TAAGTCAGGGGAAACGATTGT 0.423000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 83 49 0 0 0.00361006 0 0 WISP3 8838 broad.mit.edu 37 6 112386127 112386127 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:112386127G>A uc003pvo.3 + 2 706 c.570G>A c.(568-570)aaG>aaA p.K190K WISP3_uc003pvm.3_Silent_p.K172K|WISP3_uc003pvn.3_Non-coding_Transcript NM_198239 NP_003871 O95389 WISP3_HUMAN Homo sapiens WNT1 inducible signaling pathway protein 3 (WISP3), transcript variant 3, mRNA. 172 cell-cell signaling|regulation of cell growth|signal transduction extracellular region|soluble fraction growth factor activity|insulin-like growth factor binding p.K190N(2) breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 13 all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) AAGGTGGAAAGAAGTCTGATC 0.483000 50 33 0 0 0.00327116 0 0 ZNF80 7634 broad.mit.edu 37 3 113955649 113955649 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:113955649G>A uc010hqo.3 - 0 777 c.273C>T c.(271-273)gaC>gaT p.D91D ZNF80_uc003ebf.3_Non-coding_Transcript NM_007136 NP_009067 P51504 ZNF80_HUMAN Homo sapiens zinc finger protein 80 (ZNF80), mRNA. 91 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) GTCGAACGAAGTCGACCTTTT 0.532000 15 12 0 0 0.00136819 0 0 WNK2 65268 broad.mit.edu 37 9 96051797 96051797 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:96051797C>T uc004ati.1 + 19 4872 c.4872C>T c.(4870-4872)ccC>ccT p.P1624P WNK2_uc011lud.1_Silent_p.P1587P|WNK2_uc004atj.3_Silent_p.P1587P|WNK2_uc004atk.3_Silent_p.P1224P|WNK2_uc004atl.1_Silent_p.P182P NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 1624 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CCCTGGAGCCCCTGAGAGGGG 0.692000 14 6 0 0 0.00198382 0 0 FGD6 55785 broad.mit.edu 37 12 95603962 95603962 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:95603962C>T uc001tdp.4 - 1 1322 c.1098G>A c.(1096-1098)caG>caA p.Q366Q FGD6_uc009zsx.3_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA. 366 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 ACAAAACATTCTGATGCAGAA 0.373000 64 25 0 0 0.00278032 0 0 LOC100132352 100132352 broad.mit.edu 37 9 68728848 68728848 + RNA SNP A C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:68728848A>C uc022bhu.1 + 2 c.633A>C LOC100132352_uc010mnp.2_Non-coding_Transcript Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA. aagaagaaaaagagcaaagat 0.279000 76 5 0 0 0.00198382 0 0 IL1RL1 9173 broad.mit.edu 37 2 102968026 102968026 + Missense_Mutation SNP G A A rs150294315 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:102968026G>A uc002tbu.1 + 10 1587 c.1316G>A c.(1315-1317)cGa>cAa p.R439Q IL18R1_uc002tbw.4_Intron NM_016232 NP_057316 Q01638 ILRL1_HUMAN Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA. 439 TIR. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 ACCAACATACGAAAGAGCAGG 0.438000 23 17 0 0 0.000958276 0 0 OR13C8 138802 broad.mit.edu 37 9 107331799 107331799 + Silent SNP G A A rs140558238 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:107331799G>A uc011lvo.2 + 0 351 c.351G>A c.(349-351)acG>acA p.T117T NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TCTTAGGCACGATGGCACTGG 0.522000 54 23 0 0 0.00229938 0 0 ZAP70 7535 broad.mit.edu 37 2 98351917 98351917 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:98351917G>A uc002syd.1 + 9 1494 c.1287G>A c.(1285-1287)aaG>aaA p.K429K ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Silent_p.K319K|ZAP70_uc002syf.1_Silent_p.K122K NM_001079 NP_997402 P43403 ZAP70_HUMAN Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA. 429 Protein kinase. T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection T cell receptor complex|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 TGGTCGGCAAGAGGTGAGCAC 0.697000 31 15 0 0 0.00400662 0 0 DMBX1 127343 broad.mit.edu 37 1 46976761 46976761 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:46976761C>T uc001cpx.3 + 2 518 c.503C>T c.(502-504)cCa>cTa p.P168L DMBX1_uc001cpw.3_Missense_Mutation_p.P163L NM_147192 NP_671725 Q8NFW5 DMBX1_HUMAN Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA. 168 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) GAGCAGCCCCCACGTCTGCCT 0.647000 59 45 0 0 0.00361006 0 0 VPS8 23355 broad.mit.edu 37 3 184577778 184577778 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:184577778G>A uc021xik.1 + 13 1237 c.1149G>A c.(1147-1149)aaG>aaA p.K383K VPS8_uc003fpb.1_Silent_p.K381K|VPS8_uc010hyd.1_Silent_p.K381K NM_001009921 NP_001009921 Q8N3P4 VPS8_HUMAN Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA. 383 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) ATCAGGTAAAGAGAGATGAAT 0.323000 33 16 0 0 0.00074312 0 0 CEP350 9857 broad.mit.edu 37 1 179989379 179989379 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:179989379C>T uc001gnt.3 + 11 2853 c.2470C>T c.(2470-2472)Cgt>Tgt p.R824C CEP350_uc009wxl.2_Missense_Mutation_p.R823C|CEP350_uc001gnu.3_Missense_Mutation_p.R658C NM_014810 NP_055625 Q5VT06 CE350_HUMAN Homo sapiens centrosomal protein 350kDa (CEP350), mRNA. 824 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TAAACTGGATCGTATTGAAGC 0.433000 142 66 0 0 0.00361006 0 0 CCDC146 57639 broad.mit.edu 37 7 76908345 76908345 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:76908345G>A uc003uga.3 + 12 1748 c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K CCDC146_uc010ldp.3_Missense_Mutation_p.E255K NM_020879 NP_065930 Q8IYE0 CC146_HUMAN Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA. 541 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) GAAAGTAAATGAAATAAAAGA 0.308000 35 15 0 0 0.00400662 0 0 XRN1 54464 broad.mit.edu 37 3 142083988 142083988 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:142083988G>A uc003eus.3 - 28 3362 c.3295C>T c.(3295-3297)Cgg>Tgg p.R1099W XRN1_uc010huu.3_Missense_Mutation_p.R565W|XRN1_uc003eut.3_Missense_Mutation_p.R1099W|XRN1_uc003euu.3_Missense_Mutation_p.R1099W NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA. 1099 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|RNA binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TCTGCATCCCGATCAGGAATG 0.358000 28 19 0 0 0.00395357 0 0 TIMD4 91937 broad.mit.edu 37 5 156381622 156381622 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:156381622G>A uc003lwh.2 - 1 261 c.204C>T c.(202-204)ctC>ctT p.L68L TIMD4_uc010jii.2_Silent_p.L68L NM_138379 NP_612388 Q96H15 TIMD4_HUMAN Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA. 68 Ig-like V-type. integral to membrane p.A67V(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAGTGCGGATGAGCGCCTCCT 0.527000 328 125 0 0 0.00361006 0 0 MYH8 4626 broad.mit.edu 37 17 10303854 10303854 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10303854C>T uc002gmm.2 - 26 3683 c.3588G>A c.(3586-3588)cgG>cgA p.R1196R AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1196 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin 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 CGTGCTTCTTCCGAAGAGCAG 0.547000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 32 21 0 0 0.00152264 0 0 PROM2 150696 broad.mit.edu 37 2 95941806 95941806 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:95941806G>A uc002suk.3 + 2 556 c.423G>A c.(421-423)aaG>aaA p.K141K PROM2_uc002suh.2_Silent_p.K141K|PROM2_uc002sui.3_Silent_p.K141K|PROM2_uc002suj.3_5'UTR|PROM2_uc002sul.3_5'UTR NM_001165977 NP_653308 Q8N271 PROM2_HUMAN Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA. 141 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 GACGAGTGAAGACAGAGCACA 0.677000 15 11 0 0 0.000673444 0 0 CCDC88B 283234 broad.mit.edu 37 11 64112076 64112076 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:64112076G>A uc001nzy.3 + 13 2112 c.2063G>A c.(2062-2064)gGg>gAg p.G688E CCDC88B_uc009ypo.2_Missense_Mutation_p.G685E|CCDC88B_uc001nzz.1_Missense_Mutation_p.G337E NM_032251 NP_115627 A6NC98 CC88B_HUMAN Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA. 688 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGGCTGGAAGGGACGGTCAGG 0.647000 2 4 0 0 0.000602214 0 0 GPR158 57512 broad.mit.edu 37 10 25701229 25701229 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:25701229G>A uc001isj.3 + 3 1222 c.1162G>A c.(1162-1164)Gaa>Aaa p.E388K NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 388 integral to membrane|plasma membrane G-protein coupled receptor activity p.E388*(2) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TGTGTCAGAAGAAGCCTATGT 0.473000 97 38 0 0 0.00195071 0 0 KIAA1549 57670 broad.mit.edu 37 7 138603310 138603310 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:138603310G>A uc011kql.2 - 1 1111 c.1062C>T c.(1060-1062)ttC>ttT p.F354F KIAA1549_uc011kqj.2_Silent_p.F354F NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 354 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GTGTCCTGCTGAATGCAAGGG 0.488000 O BRAF pilocytic astrocytoma 101 39 0 0 0.00148497 0 0 ELF4 2000 broad.mit.edu 37 X 129201362 129201362 + Silent SNP G A A rs139671354 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:129201362G>A uc004evd.4 - 8 1711 c.1326C>T c.(1324-1326)ctC>ctT p.L442L ELF4_uc004eve.4_Silent_p.L442L NM_001421 NP_001412 Q99607 ELF4_HUMAN Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA. 442 NK T cell proliferation|natural killer cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 TCTGGAGAACGAGCTGAGTGG 0.617000 T ERG AML 8 31 0 0 0.00283554 0 0 LRP6 4040 broad.mit.edu 37 12 12288149 12288150 + Missense_Mutation DNP GG TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:12288149_12288150GG>TT uc001rah.4 - 16 3834_3835 c.3692_3693CC>AA c.(3691-3693)ccc>cAA p.P1231Q BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.P1231Q NM_002336 NP_002327 O75581 LRP6_HUMAN Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA. 1231 EGF-like 4. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CCAGGTGCATGGGGCAAGAACA 0.426000 422 10 0 0 6.4e-05 0 0 COL11A1 1301 broad.mit.edu 37 1 103388896 103388896 + Missense_Mutation SNP G C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:103388896G>C uc001dum.3 - 46 4004 c.3686C>G c.(3685-3687)cCc>cGc p.P1229R COL11A1_uc001duk.3_Missense_Mutation_p.P413R|COL11A1_uc001dul.3_Missense_Mutation_p.P1217R|COL11A1_uc001dun.3_Missense_Mutation_p.P1178R|COL11A1_uc009weh.3_Missense_Mutation_p.P1101R NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1217 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) ACTTACCATGGGACCAACATC 0.338000 15 4 0 0 0.00024832 0 0 ADAM2 2515 broad.mit.edu 37 8 39646227 39646227 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:39646227G>A uc003xnj.3 - 7 678 c.603C>T c.(601-603)gtC>gtT p.V201V ADAM2_uc003xnk.3_Silent_p.V182V|ADAM2_uc011lck.2_Silent_p.V201V|ADAM2_uc003xnl.3_Intron NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 201 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.V201V(4) haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTTTTTGAGCGACAACAGTTG 0.289000 35 9 0 0 0.000673444 0 0 TRHDE 29953 broad.mit.edu 37 12 73012704 73012704 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:73012704G>A uc001sxa.3 + 12 2250 c.2220G>A c.(2218-2220)gaG>gaA p.E740E NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 740 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TTCCTCTGGAGATTATCAGAT 0.388000 69 30 0 0 0.00178596 0 0 TNS4 84951 broad.mit.edu 37 17 38652320 38652320 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:38652320G>A uc010cxb.3 - 1 522 c.358C>T c.(358-360)Ccc>Tcc p.P120S NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN Homo sapiens tensin 4 (TNS4), mRNA. 120 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GTCCCTGGGGGAAGCAGCTGG 0.577000 82 27 0 0 0.00106085 0 0 KIF13A 63971 broad.mit.edu 37 6 17799556 17799556 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:17799556C>T uc003ncg.4 - 21 2891 c.2731G>A c.(2731-2733)Gag>Aag p.E911K KIF13A_uc003ncf.3_Missense_Mutation_p.E911K|KIF13A_uc003nch.4_Missense_Mutation_p.E911K|KIF13A_uc003nci.4_Missense_Mutation_p.E911K NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA. 911 Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GAAGGCACCTCGGGGTCCACC 0.527000 16 7 0 0 0.00198382 0 0 LRRC4C 57689 broad.mit.edu 37 11 40135976 40135976 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:40135976C>T uc021qgf.1 - 0 1867 c.1867G>A c.(1867-1869)Gaa>Aaa p.E623K LRRC4C_uc001mxc.1_Missense_Mutation_p.E619K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E619K|LRRC4C_uc001mxa.1_Missense_Mutation_p.E623K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E619K NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 623 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) AATAACGGTTCATGCACTGAA 0.328000 53 27 0 0 0.00106085 0 0 ZNF189 7743 broad.mit.edu 37 9 104170392 104170392 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:104170392C>T uc004bbh.1 + 2 618 c.342C>T c.(340-342)ttC>ttT p.F114F ZNF189_uc004bbg.1_Silent_p.F72F|ZNF189_uc004bbi.1_Silent_p.F100F|ZNF189_uc011lvk.1_Silent_p.F99F|ZNF189_uc022ble.1_Silent_p.F19F NM_003452 NP_932094 O75820 ZN189_HUMAN Homo sapiens zinc finger protein 189 (ZNF189), transcript variant 1, mRNA. 114 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F114L(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) GAGGGATCTTCCTATGGGAAA 0.378000 22 23 0 0 0.00229938 0 0 ESYT3 83850 broad.mit.edu 37 3 138192384 138192384 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:138192384G>A uc003esk.3 + 18 2470 c.2244G>A c.(2242-2244)ggG>ggA p.G748G NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA. 748 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 ACAGAGGTGGGGACCTCAGGC 0.562000 194 72 0 0 0.00361006 0 0 LMBR1L 55716 broad.mit.edu 37 12 49497573 49497573 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:49497573C>T uc001rth.4 - 5 801 c.459G>A c.(457-459)gaG>gaA p.E153E LMBR1L_uc001rtg.4_Silent_p.E148E|LMBR1L_uc001rti.4_Silent_p.E153E|LMBR1L_uc001rtj.1_5'UTR|LMBR1L_uc009zld.1_Silent_p.E26E|LMBR1L_uc010smf.1_Non-coding_Transcript NM_018113 NP_060583 Q6UX01 LMBRL_HUMAN Homo sapiens limb region 1 homolog (mouse)-like (LMBR1L), mRNA. 153 endocytosis integral to membrane|plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TCACCACTGTCTCATAGACCC 0.552000 106 37 0 0 0.00128727 0 0 DUSP27 92235 broad.mit.edu 37 1 167097246 167097246 + Missense_Mutation SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:167097246G>T uc001geb.1 + 4 2894 c.2878G>T c.(2878-2880)Ggg>Tgg p.G960W NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 960 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AAGTTCCAGAGGGAAGTACAC 0.488000 26 10 7.48243e-07 2.34953e-06 0.000442599 1 0 CA8 767 broad.mit.edu 37 8 61178492 61178492 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:61178492G>A uc003xtz.1 - 2 657 c.409C>T c.(409-411)Ccc>Tcc p.P137S CA8_uc003xua.1_Missense_Mutation_p.P137S|CA8_uc003xub.3_Missense_Mutation_p.P137S NM_004056 NP_004047 P35219 CAH8_HUMAN Homo sapiens carbonic anhydrase VIII (CA8), mRNA. 137 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) ACCTCCATGGGAAAAGCTTTG 0.358000 24 9 0 0 0.000978159 0 0 DSG3 1830 broad.mit.edu 37 18 29046704 29046704 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:29046704C>T uc002kws.3 + 10 1732 c.1623C>T c.(1621-1623)atC>atT p.I541I NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 541 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) TATGGAGTATCACAACCCTCA 0.423000 43 18 0 0 0.000958276 0 0 PSD4 23550 broad.mit.edu 37 2 113940076 113940076 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:113940076G>A uc002tjc.3 + 1 226 c.43G>A c.(43-45)Gaa>Aaa p.E15K PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.E14K|PSD4_uc002tjf.3_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA. 15 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCAGCCCATGGAAATTCTCAA 0.592000 35 14 0 0 0.00244969 0 0 CLEC4M 10332 broad.mit.edu 37 19 7830535 7830536 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:7830535_7830536CC>TT uc010dvt.3 + 3 344_345 c.226_227CC>TT c.(226-228)ccc>TTc p.P76F CLEC4M_uc010xjv.1_Missense_Mutation_p.P48F|CLEC4M_uc002mhy.2_Missense_Mutation_p.P20F|CLEC4M_uc002mih.3_Missense_Mutation_p.P76F|CLEC4M_uc010xjw.2_Missense_Mutation_p.P55F|CLEC4M_uc010dvs.3_Missense_Mutation_p.P75F|CLEC4M_uc010xjx.2_Missense_Mutation_p.P48F|CLEC4M_uc002mhz.3_Missense_Mutation_p.P76F|CLEC4M_uc002mic.3_Missense_Mutation_p.P48F|CLEC4M_uc002mia.3_Missense_Mutation_p.P55F NM_001144909 NP_001138381 Q9H2X3 CLC4M_HUMAN Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA. 76 cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 GTCCAAGGTCCCCAGCTCCCTA 0.500000 69 16 0 0 6.4e-05 0 0 PENK 5179 broad.mit.edu 37 8 57354177 57354177 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:57354177G>A uc003xsz.2 - 1 539 c.458C>T c.(457-459)tCc>tTc p.S153F PENK_uc003xta.3_Missense_Mutation_p.S153F NM_006211 NP_006202 P01210 PENK_HUMAN Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA. 153 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity p.S153C(2) central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) CAGGTCTGAGGAATTGGCCAG 0.527000 55 34 0 0 0.00428921 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65811142 65811142 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:65811142G>A uc001ogv.3 - 1 292 c.132C>T c.(130-132)ccC>ccT p.P44P GAL3ST3_uc001ogw.3_Silent_p.P44P NM_033036 NP_149025 Q96A11 G3ST3_HUMAN Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA. 44 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 GGAACAGCTTGGGGTACCTGC 0.662000 3 5 0 0 0.00307968 0 0 MID2 11043 broad.mit.edu 37 X 107084242 107084242 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:107084242C>T uc004enl.3 + 1 920 c.347C>T c.(346-348)tCc>tTc p.S116F MID2_uc004enk.3_Missense_Mutation_p.S116F NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN Homo sapiens midline 2 (MID2), transcript variant 1, mRNA. 116 centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 GGGCCCAATTCCCCTAGTGAG 0.562000 5 7 0 0 0.00307968 0 0 LPPR1 54886 broad.mit.edu 37 9 104048497 104048497 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:104048497C>T uc004bbb.3 + 3 763 c.364C>T c.(364-366)Cga>Tga p.R122* LPPR1_uc011lvi.2_Nonsense_Mutation_p.R98*|LPPR1_uc004bbc.3_Nonsense_Mutation_p.R122*|LPPR1_uc010mtc.3_Nonsense_Mutation_p.R106* NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA. 122 integral to membrane catalytic activity p.R122*(1) CCCCTTACTTCGAAGGATCAT 0.368000 59 14 0 0 0.00244969 0 0 AMPD2 271 broad.mit.edu 37 1 110163683 110163683 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:110163683C>T uc009wfh.1 + 1 590 c.48C>T c.(46-48)ttC>ttT p.F16F AMPD2_uc009wfg.1_Intron|AMPD2_uc001dyb.1_Intron|AMPD2_uc001dyc.1_Silent_p.F16F|AMPD2_uc010ovr.1_5'UTR|AMPD2_uc010ovs.1_5'Flank NM_004037 NP_004028 Q01433 AMPD2_HUMAN Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA. 16 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) GCCGCTGCTTCCTGCATCAGT 0.682000 12 4 0 0 0.00116845 0 0 FAT2 2196 broad.mit.edu 37 5 150911369 150911369 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:150911369G>A uc003lue.4 - 12 9603 c.9590C>T c.(9589-9591)cCg>cTg p.P3197L FAT2_uc003lud.4_5'UTR NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 3197 Cadherin 28. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGTGGACAGCGGTATTGGGGT 0.667000 51 26 0 0 0.00375469 0 0 SPANXN3 139067 broad.mit.edu 37 X 142605203 142605203 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:142605203G>A uc004fbw.3 - 0 105 c.17C>T c.(16-18)tCc>tTc p.S6F NM_001009609 NP_001009609 Q5MJ09 SPXN3_HUMAN Homo sapiens SPANX family, member N3 (SPANXN3), mRNA. 6 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) ATTGGTGCTGGAAGTTGGCTG 0.453000 44 44 0 0 0.00361006 0 0 OR51A7 119687 broad.mit.edu 37 11 4929315 4929315 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:4929315C>T uc010qyq.2 + 0 716 c.716C>T c.(715-717)aCc>aTc p.T239I NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA. 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GCCCTAAATACCTGTGTCTCC 0.478000 120 46 0 0 0.00361006 0 0 HCN1 348980 broad.mit.edu 37 5 45396681 45396681 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:45396681G>A uc003jok.3 - 3 1168 c.1143C>T c.(1141-1143)gtC>gtT p.V381V NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 381 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 AGGTGGCCCCGACGATCATGC 0.507000 35 18 0 0 0.000958276 0 0 TRIM31 11074 broad.mit.edu 37 6 30076814 30076814 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:30076814G>A uc003npg.1 - 4 866 c.756C>T c.(754-756)gtC>gtT p.V252V TRIM31_uc003npi.3_Non-coding_Transcript NM_007028 NP_008959 Q9BZY9 TRI31_HUMAN Homo sapiens tripartite motif containing 31 (TRIM31), mRNA. 252 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 TGCACAAGACGACTTTGATAT 0.488000 75 15 0 0 0.00074312 0 0 PLB1 151056 broad.mit.edu 37 2 28775804 28775804 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:28775804G>A uc002rmb.2 + 16 1137 c.1093G>A c.(1093-1095)Gga>Aga p.G365R PLB1_uc010ezj.2_Missense_Mutation_p.G376R|PLB1_uc002rmc.3_Missense_Mutation_p.G53R NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 365 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) GGTAAGAGAAGGAGCGGAAAT 0.443000 102 40 0 0 0.00285205 0 0 IPO5 3843 broad.mit.edu 37 13 98645155 98645155 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:98645155G>A uc001vne.3 + 9 913 c.733G>A c.(733-735)Gac>Aac p.D245N IPO5_uc001vnf.1_Missense_Mutation_p.D227N|IPO5_uc010tik.1_Missense_Mutation_p.D102N|IPO5_uc010til.1_Missense_Mutation_p.D167N NM_002271 NP_002262 O00410 IPO5_HUMAN Homo sapiens importin 5 (IPO5), mRNA. 227 NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|Ran GTPase binding|protein transporter activity p.N244D(1) breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 GGCGGTAAATGACTCGTGCTA 0.403000 65 29 0 0 0.001512 0 0 OR1N1 138883 broad.mit.edu 37 9 125289425 125289425 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:125289425C>T uc004bmn.1 - 0 148 c.148G>A c.(148-150)Gac>Aac p.D50N NM_012363 NP_036495 Q8NGS0 OR1N1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA. 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 AGGTGCAGGTCAGAGCCAATG 0.498000 40 30 0 0 0.0024448 0 0 DNAH5 1767 broad.mit.edu 37 5 13864741 13864741 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:13864741C>T uc003jfd.2 - 27 4403 c.4361G>A c.(4360-4362)cGa>cAa p.R1454Q NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1454 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.C1453*(1) 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) GGGAAGCTTTCGACATCTGTG 0.468000 Kartagener syndrome 48 25 0 0 0.00127121 0 0 MYO1A 4640 broad.mit.edu 37 12 57437649 57437649 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:57437649C>T uc001smw.4 - 9 1123 c.883G>A c.(883-885)Gat>Aat p.D295N MYO1A_uc010sqz.2_Missense_Mutation_p.D133N|MYO1A_uc009zpd.3_Missense_Mutation_p.D295N NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA. 295 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 CCTCTCCCATCACGGATGCCA 0.527000 29 10 0 0 0.000673444 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596214 24596214 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:24596214G>A uc011djo.2 - 2 1188 c.688C>T c.(688-690)Cct>Tct p.P230S KIAA0319_uc011djp.2_Missense_Mutation_p.P185S|KIAA0319_uc003neh.1_Missense_Mutation_p.P230S|KIAA0319_uc011djq.1_Missense_Mutation_p.P221S|KIAA0319_uc011djr.1_Missense_Mutation_p.P230S NM_001168375 NP_001161848 Q5VV43 K0319_HUMAN Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA. 230 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding p.P230H(1) breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 CTTCTCTCAGGGAGTTTTGGG 0.552000 49 12 0 0 0.000978159 0 0 CTAGE10P 220429 broad.mit.edu 37 13 50465120 50465120 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:50465120G>A uc001vdk.2 + 0 576 c.394G>A c.(394-396)Gaa>Aaa p.E132K Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA. GGCAAACTGTGAAAAGCTGAA 0.398000 180 53 0 0 0.00361006 0 0 ASXL2 55252 broad.mit.edu 37 2 25967139 25967139 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:25967139G>A uc002rgs.2 - 11 2288 c.2067C>T c.(2065-2067)acC>acT p.T689T ASXL2_uc002rgt.1_Silent_p.T429T NM_018263 NP_060733 Q76L83 ASXL2_HUMAN Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA. 689 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCCTGGAATGGTCCCTCCAA 0.612000 46 23 0 0 0.00332997 0 0 NPC1L1 29881 broad.mit.edu 37 7 44579759 44579759 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:44579759G>A uc003tlb.3 - 1 293 c.237C>T c.(235-237)ccC>ccT p.P79P NPC1L1_uc011kbw.2_Silent_p.P79P|NPC1L1_uc003tlc.3_Silent_p.P79P|NPC1L1_uc003tld.3_Silent_p.P79P NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 79 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) TGTAGAGGCGGGGGCAGATCT 0.602000 22 7 0 0 0.00198382 0 0 WDR72 256764 broad.mit.edu 37 15 53998203 53998203 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:53998203G>A uc002acj.2 - 9 1065 c.1023C>T c.(1021-1023)ttC>ttT p.F341F WDR72_uc010bfi.1_Silent_p.F341F NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN Homo sapiens WD repeat domain 72 (WDR72), mRNA. 341 p.F341L(2) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) CTTCTCCAGAGAAAAGTACCT 0.398000 18 24 0 0 0.00278032 0 0 FGFR4 2264 broad.mit.edu 37 5 176519753 176519753 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:176519753C>T uc003mfl.3 + 7 1192 c.1025C>T c.(1024-1026)tCc>tTc p.S342F FGFR4_uc003mfm.3_Missense_Mutation_p.S342F|FGFR4_uc011dfu.2_Missense_Mutation_p.S342F|FGFR4_uc011dfw.1_Missense_Mutation_p.S342F|FGFR4_uc003mfo.3_Missense_Mutation_p.S342F NM_002011 NP_998812 P22455 FGFR4_HUMAN Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA. 342 Ig-like C2-type 3. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) 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) Palifermin(DB00039) ATCGGCCTCTCCTACCAGTCT 0.637000 TSP Lung(9;0.080) 39 17 0 0 0.00400662 0 0 COBL 23242 broad.mit.edu 37 7 51095984 51095984 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:51095984G>A uc003tps.3 - 10 3165 c.2980C>T c.(2980-2982)Ccc>Tcc p.P994S COBL_uc003tpr.4_Missense_Mutation_p.P937S|COBL_uc011kcl.2_Missense_Mutation_p.P937S|COBL_uc003tpp.4_Missense_Mutation_p.P723S|COBL_uc003tpq.4_Missense_Mutation_p.P878S|COBL_uc003tpo.4_Missense_Mutation_p.P479S NM_015198 NP_056013 O75128 COBL_HUMAN Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA. 937 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TGGTTGTTGGGAGGAGTGACA 0.577000 27 14 0 0 0.00400662 0 0 AKR1B10 57016 broad.mit.edu 37 7 134215542 134215542 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:134215542G>A uc003vrr.3 + 1 534 c.214G>A c.(214-216)Gac>Aac p.D72N NM_020299 NP_064695 O60218 AK1BA_HUMAN Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA. 72 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 GAAGCGGGAGGACCTGTTCAT 0.517000 69 26 0 0 0.00127121 0 0 LONRF2 164832 broad.mit.edu 37 2 100919445 100919445 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:100919445C>T uc002tal.4 - 2 1499 c.859G>A c.(859-861)Gaa>Aaa p.E287K LONRF2_uc010yvs.2_Non-coding_Transcript NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA. 287 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 TAGAGAAATTCCTTTAACACT 0.393000 64 24 0 0 0.00278032 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95204435 95204435 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:95204435C>T uc003htb.4 + 21 3073 c.2896C>T c.(2896-2898)Cat>Tat p.H966Y SMARCAD1_uc003htc.4_Missense_Mutation_p.H964Y|SMARCAD1_uc003htd.4_Missense_Mutation_p.H966Y|SMARCAD1_uc010ila.3_Missense_Mutation_p.H829Y|SMARCAD1_uc011cdw.2_Missense_Mutation_p.H534Y NM_001128430 NP_001121902 Q9H4L7 SMRCD_HUMAN Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA. 964 Helicase C-terminal. chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) AGATAGATGCCATAGAGTAGG 0.338000 45 11 0 0 0.00185496 0 0 SLC30A3 7781 broad.mit.edu 37 2 27481726 27481727 + Missense_Mutation DNP CC TT TT rs141176570 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:27481726_27481727CC>TT uc002rjk.3 - 1 357_358 c.171_172GG>AA c.(169-174)agggac>agAAac p.D58N SLC30A3_uc002rjj.3_5'Flank|SLC30A3_uc010ylh.2_Missense_Mutation_p.D53N NM_003459 NP_003450 Q99726 ZNT3_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA. 58 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAAGGGGGTCCCTGTGGCAGT 0.609000 34 9 0 0 6.4e-05 0 0 FABP9 646480 broad.mit.edu 37 8 82373741 82373741 + Missense_Mutation SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:82373741C>A uc011lfo.2 - 0 18 c.18G>T c.(16-18)ttG>ttT p.L6F NM_001080526 NP_001073995 Q0Z7S8 FABP9_HUMAN Homo sapiens fatty acid binding protein 9, testis (FABP9), mRNA. 6 lipid binding|transporter activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 Epithelial(68;0.186) TCCAGGTTCCCAAGAAGGGCT 0.403000 140 6 0.00198382 0.00617672 0.00198382 1 0 ALDH16A1 126133 broad.mit.edu 37 19 49965880 49965880 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:49965880G>A uc002pnt.3 + 7 1082 c.966G>A c.(964-966)cgG>cgA p.R322R ALDH16A1_uc010yar.2_Silent_p.R271R|ALDH16A1_uc010yas.2_Silent_p.R157R|ALDH16A1_uc010yat.2_Silent_p.R159R NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA. 322 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) CCATGAGACGGCTGCAGGAGC 0.652000 59 27 0 0 0.00178596 0 0 KAT6A 7994 broad.mit.edu 37 8 41790402 41790402 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:41790402G>A uc010lxb.3 - 17 5880 c.5336C>T c.(5335-5337)tCc>tTc p.S1779F KAT6A_uc010lxc.3_Missense_Mutation_p.S1779F|KAT6A_uc003xon.4_Missense_Mutation_p.S1779F NM_001099412 NP_006757 Q92794 MYST3_HUMAN Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA. 1779 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGTTGCATAGGAAGTCACAGC 0.537000 115 46 0 0 0.00361006 0 0 OR4B1 119765 broad.mit.edu 37 11 48238470 48238470 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:48238470G>A uc010rhs.2 + 0 109 c.109G>A c.(109-111)Gtg>Atg p.V37M NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA. 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 CCTTGCCACGGTGGTGGGCAA 0.502000 87 40 0 0 0.00222228 0 0 NRXN2 9379 broad.mit.edu 37 11 64416209 64416209 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:64416209C>T uc021qkw.1 - 15 3742 c.3280G>A c.(3280-3282)Gat>Aat p.D1094N NRXN2_uc021qkx.1_Missense_Mutation_p.D1054N|NRXN2_uc001oas.3_Missense_Mutation_p.D1054N|NRXN2_uc001oaq.3_Missense_Mutation_p.D761N NM_015080 NP_055895 Q9P2S2 NRX2A_HUMAN Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA. 1094 cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CACTCACCATCACAGCCCCTC 0.647000 15 17 0 0 0.000958276 0 0 KRT24 192666 broad.mit.edu 37 17 38859395 38859395 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:38859395C>T uc002hvd.3 - 0 608 c.551G>A c.(550-552)gGa>gAa p.G184E NM_019016 NP_061889 Q2M2I5 K1C24_HUMAN Homo sapiens keratin 24 (KRT24), mRNA. 184 Linker 1.|Rod. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) TCCACCGTCTCCAGACCCAGG 0.438000 86 84 0 0 0.00361006 0 0 UXT 8409 broad.mit.edu 37 X 47516985 47516985 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:47516985G>A uc004dim.3 - 2 487 c.270C>T c.(268-270)ttC>ttT p.F90F UXT_uc022bvp.1_Non-coding_Transcript|UXT_uc004din.3_Silent_p.F78F|LOC100133957_uc011mls.1_5'Flank|LOC100133957_uc011mlt.1_5'Flank NM_153477 NP_705582 Q9UBK9 UXT_HUMAN Homo sapiens ubiquitously-expressed, prefoldin-like chaperone (UXT), transcript variant 1, mRNA. 78 centrosome organization|mitochondrion transport along microtubule|protein folding centrosome|nucleus|prefoldin complex beta-tubulin binding|microtubule binding|unfolded protein binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1) 6 CTGTGTCAACGAAGAAGTTAC 0.488000 2 6 0 0 0.000274275 0 0 MCC 4163 broad.mit.edu 37 5 112384869 112384869 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:112384869G>A uc003kql.4 - 15 2992 c.2576C>T c.(2575-2577)tCc>tTc p.S859F MCC_uc003kqj.4_Missense_Mutation_p.S669F|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.S669F NM_001085377 NP_001078846 P23508 CRCM_HUMAN Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA. 669 Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CTCCACCTCGGACTTCAGGTG 0.617000 35 15 0 0 0.00316338 0 0 SGCZ 137868 broad.mit.edu 37 8 13959988 13959988 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:13959988G>A uc003wwq.3 - 6 1301 c.641C>T c.(640-642)tCc>tTc p.S214F SGCZ_uc010lss.3_Missense_Mutation_p.S167F NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN Homo sapiens sarcoglycan, zeta (SGCZ), mRNA. 201 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CATGATCAAGGATCTGGTGGG 0.413000 24 8 0 0 0.00307968 0 0 SEC22B 9554 broad.mit.edu 37 1 145112502 145112502 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:145112502G>A uc001eml.1 + 4 613 c.473G>A c.(472-474)cGa>cAa p.R158Q NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron NM_004892 NP_004883 O75396 SC22B_HUMAN Homo sapiens SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) (SEC22B), mRNA. 159 v-SNARE coiled-coil homology. ER to Golgi vesicle-mediated transport|protein transport ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane|melanosome protein binding GTGTTACAACGAGGAGAAGCA 0.413000 131 9 0 0 0.000442599 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951736 119951736 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:119951736C>T uc010inb.3 + 3 2002 c.1806C>T c.(1804-1806)ccC>ccT p.P602P SYNPO2_uc010ina.3_Silent_p.P602P|SYNPO2_uc003icm.4_Silent_p.P602P|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Silent_p.P530P|SYNPO2_uc021xrd.1_5'Flank NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 602 Pro-rich. Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding p.T601S(1) 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 CAGCTACCCCCTTCTCGCCAA 0.567000 63 31 0 0 0.00283554 0 0 FAM113B 91523 broad.mit.edu 37 12 47629900 47629900 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:47629900C>T uc001rpq.3 + 1 1579 c.1054C>T c.(1054-1056)Caa>Taa p.Q352* FAM113B_uc001rpn.3_Nonsense_Mutation_p.Q352*|FAM113B_uc021qxi.1_Nonsense_Mutation_p.Q352* NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 352 Pro-rich. hydrolase activity NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) CCAGTCGGATCAATTCTATTG 0.527000 77 37 0 0 0.00111076 0 0 DNAH17 8632 broad.mit.edu 37 17 76503578 76503578 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:76503578C>T uc010dhp.2 - 27 4671 c.4546G>A c.(4546-4548)Gac>Aac p.D1516N NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. p.R1516H(2) 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) CGCTGGGAGTCCCCCGGGAGC 0.582000 19 20 0 0 0.00229938 0 0 SLC10A6 345274 broad.mit.edu 37 4 87744979 87744979 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:87744979C>T uc003hqd.2 - 5 1144 c.996G>A c.(994-996)acG>acA p.T332T NM_197965 NP_932069 Q3KNW5 SOAT_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA. 332 integral to membrane|plasma membrane bile acid:sodium symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 9 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) TCGATTTCCTCGTATGGCAGA 0.463000 68 51 0 0 0.00361006 0 0 ARHGAP5 394 broad.mit.edu 37 14 32561514 32561514 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:32561514G>A uc001wrl.3 + 1 1878 c.1639G>A c.(1639-1641)Gga>Aga p.G547R ARHGAP5_uc001wrm.3_Missense_Mutation_p.G547R|ARHGAP5_uc001wrn.3_Missense_Mutation_p.G547R|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA. 547 Rho protein signal transduction|cell adhesion cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TAAGCATATAGGATTTGTTTA 0.353000 19 18 0 0 0.00152264 0 0 OR51L1 119682 broad.mit.edu 37 11 5021082 5021082 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:5021082C>T uc010qyu.2 + 0 870 c.870C>T c.(868-870)aaC>aaT p.N290N NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA. 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGTCCTTAACCCTATTGTCT 0.453000 38 18 0 0 0.00152264 0 0 HSD11B1 3290 broad.mit.edu 37 1 209879240 209879240 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:209879240G>A uc001hhj.3 + 2 305 c.173G>A c.(172-174)gGa>gAa p.G58E HSD11B1_uc021pin.1_Missense_Mutation_p.G58E|HSD11B1_uc001hhk.3_Missense_Mutation_p.G58E NM_181755 NP_861420 P28845 DHI1_HUMAN Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA. 58 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) GCGAAGATGGGAGCCCATGTG 0.502000 62 10 0 0 0.000442599 0 0 MYH7B 57644 broad.mit.edu 37 20 33589751 33589751 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:33589751G>A uc002xbi.2 + 44 6120 c.5803_splice c.e44-1 p.E1935_splice NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA. 1893 membrane|myosin filament ATP binding|actin binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GTGCCCCCAGGAGCAGCAGGC 0.612000 46 19 0 0 0.00332997 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 62457 62457 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrGL000209.1:62457C>T uc002quc.4 + 4 867 c.677C>T c.(676-678)cCt>cTt p.P226L KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Missense_Mutation_p.P221L|KIR2DL2_uc010yic.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evd.3_Missense_Mutation_p.P265L|KIR2DL2_uc002qud.4_Intron|KIR2DL2_uc002quh.4_Missense_Mutation_p.P170L|KIR2DL2_uc002que.4_Intron|KIR2DL2_uc002quf.4_Intron|KIR2DL2_uc010eve.3_Intron|KIR2DL2_uc002qug.4_Missense_Mutation_p.P226L|KIR2DL2_uc010evf.3_Intron NM_002255 NP_002246 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA. 229 regulation of immune response integral to membrane|plasma membrane receptor activity AGTAGTTGGCCTTCACCCACT 0.478000 181 92 0 0 0.00361006 0 0 PHLDB2 90102 broad.mit.edu 37 3 111638006 111638006 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:111638006G>A uc010hqa.3 + 3 2218 c.1807G>A c.(1807-1809)Gaa>Aaa p.E603K PHLDB2_uc003dyc.3_Missense_Mutation_p.E630K|PHLDB2_uc003dyd.3_Missense_Mutation_p.E603K|PHLDB2_uc003dyg.3_Missense_Mutation_p.E603K|PHLDB2_uc003dyh.3_Missense_Mutation_p.E603K|PHLDB2_uc003dyi.3_Missense_Mutation_p.E189K NM_001134438 NP_001127911 Q86SQ0 PHLB2_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA. 603 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 CAACCTCGAGGAACTTAAGCA 0.408000 68 41 0 0 0.00361006 0 0 PLCH1 23007 broad.mit.edu 37 3 155314091 155314091 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:155314091G>A uc021xge.1 - 1 397 c.120C>T c.(118-120)cgC>cgT p.R40R PLCH1_uc021xgd.1_Silent_p.R40R|PLCH1_uc021xgf.1_Silent_p.R22R NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 40 PH. 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) GGTAAAAGAGGCGGACAAGCC 0.468000 91 39 0 0 0.0025221 0 0 TRIM50 135892 broad.mit.edu 37 7 72732989 72732989 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:72732989C>T uc003txy.1 - 3 759 c.558G>A c.(556-558)gtG>gtA p.V186V FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Silent_p.V186V|TRIM50_uc003txz.1_Silent_p.V186V NM_178125 NP_835226 Q86XT4 TRI50_HUMAN Homo sapiens tripartite motif containing 50 (TRIM50), mRNA. 186 cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 TCTCCTCATCCACCAGGTGGT 0.662000 66 24 0 0 0.001512 0 0 DNAH8 1769 broad.mit.edu 37 6 38862525 38862525 + Nonsense_Mutation SNP C T T rs149070832 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:38862525C>T uc021yzh.1 + 58 8741 c.8632C>T c.(8632-8634)Cga>Tga p.R2878* DNAH8_uc003ooe.2_Nonsense_Mutation_p.R2661* NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. 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 CTTCAATCTTCGAGATCTTTC 0.393000 36 16 0 0 0.000566183 0 0 SNIP1 79753 broad.mit.edu 37 1 38006221 38006221 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:38006221C>T uc001cbi.3 - 2 536 c.463G>A c.(463-465)Gag>Aag p.E155K SNIP1_uc010oid.2_Intron NM_024700 NP_078976 Q8TAD8 SNIP1_HUMAN Homo sapiens Smad nuclear interacting protein 1 (SNIP1), mRNA. 155 Arg-rich. production of miRNAs involved in gene silencing by miRNA nucleus protein binding breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(586;0.0393) CCAGGCCTCTCGTTAGACGTT 0.587000 102 46 0 0 0.00361006 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077592 19077592 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:19077592G>A uc001mph.3 - 1 446 c.358C>T c.(358-360)Ctg>Ttg p.L120L MRGPRX2_uc021qer.1_Silent_p.L120L NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA. 120 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 ACGGTGCTCAGCATGCTCAGG 0.587000 55 18 0 0 0.00074312 0 0 ADH1C 126 broad.mit.edu 37 4 100263983 100263983 + RNA SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:100263983G>A uc021xqi.1 - 5 c.882C>T NM_000669 P00326 ADH1G_HUMAN Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA. 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 210 101 0 0 0.00361006 0 0 FGGY 55277 broad.mit.edu 37 1 59805663 59805663 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:59805663C>T uc009wac.3 + 2 447 c.235C>T c.(235-237)Cga>Tga p.R79* FGGY_uc001czg.2_Intron|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Nonsense_Mutation_p.R79*|FGGY_uc001czl.4_Intron NM_001113411 NP_001106882 Q96C11 FGGY_HUMAN Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA. 79 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) AAACCAAATTCGAGGACTTGG 0.363000 24 25 0 0 0.00178596 0 0 ACE2 59272 broad.mit.edu 37 X 15605946 15605946 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:15605946C>T uc004cxa.1 - 5 900 c.732G>A c.(730-732)gtG>gtA p.V244V ACE2_uc004cxb.2_Silent_p.V244V NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA. 244 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) ACTTTGCCCTCACATAGGCAT 0.398000 18 33 0 0 0.00128727 0 0 KRT9 3857 broad.mit.edu 37 17 39725762 39725762 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:39725762G>A uc002hxe.4 - 3 1026 c.960C>T c.(958-960)acC>acT p.T320T JUP_uc010wfs.2_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN Homo sapiens keratin 9 (KRT9), mRNA. 320 Linker 12.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) TGAGGGTCTTGGTGAGATCTT 0.498000 54 40 0 0 0.00170553 0 0 NME1-NME2 654364 broad.mit.edu 37 17 49233063 49233063 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:49233063C>T uc002iti.2 + 1 179 c.48C>T c.(46-48)gtC>gtT p.V16V NME1-NME2_uc010dbx.2_Silent_p.V41V|NME1-NME2_uc002ith.2_Silent_p.V41V|NME1-NME2_uc002itk.3_Silent_p.V41V|NME1-NME2_uc002itj.3_Silent_p.V16V NM_000269 NP_000260 P22392 NDKB_HUMAN Homo sapiens non-metastatic cells 1, protein (NM23A) expressed in (NME1), transcript variant 2, mRNA. 16 Interaction with AKAP13. CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell adhesion|negative regulation of apoptosis|nucleobase, nucleoside and nucleotide interconversion|positive regulation of epithelial cell proliferation|positive regulation of keratinocyte differentiation cytosol|lamellipodium|nucleus|ruffle ATP binding|DNA binding|metal ion binding|nucleoside diphosphate kinase activity|protein binding|protein histidine kinase activity|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 6 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) CAGATGGGGTCCAGCGGGGTC 0.488000 49 14 0 0 0.00316338 0 0 BTBD11 121551 broad.mit.edu 37 12 108006557 108006557 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:108006557G>A uc001tmk.1 + 6 2331 c.1810_splice c.e6-1 p.G604_splice BTBD11_uc009zut.1_Splice_Site_p.G604_splice|BTBD11_uc001tmj.3_Splice_Site_p.G604_splice|BTBD11_uc001tml.1_Splice_Site_p.G141_splice NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA. 604 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CTCACCACAGGGCATGACTCC 0.522000 10 5 0 0 0.00198382 0 0 ZMYM2 7750 broad.mit.edu 37 13 20659964 20659964 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:20659964C>T uc001umr.3 + 25 4242 c.3944C>T c.(3943-3945)cCa>cTa p.P1315L ZMYM2_uc001ums.3_Missense_Mutation_p.P1315L|ZMYM2_uc021rgy.1_Missense_Mutation_p.P1315L|ZMYM2_uc001umt.3_Missense_Mutation_p.P1315L|ZMYM2_uc001umv.3_Missense_Mutation_p.P695L|ZMYM2_uc001umw.3_Missense_Mutation_p.P768L NM_003453 NP_932072 Q9UBW7 ZMYM2_HUMAN Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA. 1315 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) CTCCAAAGTCCACAGAATCTT 0.378000 38 12 0 0 0.00136819 0 0 OR2C3 81472 broad.mit.edu 37 1 247695664 247695664 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:247695664G>A uc021pmb.1 - 0 150 c.150C>T c.(148-150)tcC>tcT p.S50S C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.S50S NM_198074 NP_932340 Q8N628 OR2C3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA. 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CATCTGTATGGGAGACCAGAA 0.493000 40 23 0 0 0.00395357 0 0 FSIP2 401024 broad.mit.edu 37 2 186671695 186671695 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:186671695G>A uc002upl.3 + 16 17929 c.17929G>A c.(17929-17931)Gat>Aat p.D5977N FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 AAAATCTGCAGATAAAATGCC 0.383000 46 18 0 0 0.000958276 0 0 TSNARE1 203062 broad.mit.edu 37 8 143412303 143412303 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:143412303G>A uc003ywj.3 - 4 891 c.852C>T c.(850-852)tcC>tcT p.S284S TSNARE1_uc011lju.2_Silent_p.S284S|TSNARE1_uc003ywk.3_Silent_p.S284S|TSNARE1_uc003ywl.4_Silent_p.S65S NM_145003 NP_659440 Q96NA8 TSNA1_HUMAN Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA. 284 vesicle-mediated transport integral to membrane p.S284S(2) breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GTGTCCCTAAGGACTGAAGGC 0.627000 32 9 0 0 0.00136819 0 0 ITGA8 8516 broad.mit.edu 37 10 15573138 15573138 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:15573138G>A uc001ioc.1 - 27 2893 c.2893C>T c.(2893-2895)Ccc>Tcc p.P965S ITGA8_uc010qcb.1_Missense_Mutation_p.P950S NM_003638 NP_003629 P53708 ITA8_HUMAN Homo sapiens integrin, alpha 8 (ITGA8), mRNA. 965 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity p.P965L(1) NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 AGAGCATAGGGATCATTTTTT 0.338000 60 21 0 0 0.00188189 0 0 OR10J1 26476 broad.mit.edu 37 1 159410279 159410280 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:159410279_159410280GG>AA uc010piv.2 + 0 768_769 c.731_732GG>AA c.(730-732)cgg>cAA p.R244Q BC038194_uc001fts.4_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA. 244 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) GTTGAGGGCCGGAAGAAGGCTT 0.475000 47 24 0 0 6.4e-05 0 0 OR5V1 81696 broad.mit.edu 37 6 29323773 29323773 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:29323773G>A uc011dlo.2 - 0 282 c.200C>T c.(199-201)gCc>gTc p.A67V NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA. 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GTCAATAAAGGCCAAGTTCCC 0.408000 189 47 0 0 0.00361006 0 0 MGAM 8972 broad.mit.edu 37 7 141727450 141727450 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:141727450G>A uc003vwy.3 + 9 1190 c.1136G>A c.(1135-1137)gGa>gAa p.G379E NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 379 Maltase. 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) TGGGCGCTTGGATTTCACCTC 0.438000 48 12 0 0 0.00400662 0 0 BLK 640 broad.mit.edu 37 8 11406605 11406606 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:11406605_11406606CC>TT uc003wty.3 + 4 923_924 c.342_343CC>TT c.(340-345)gcccga>gcTTga p.R115* NM_001715 NP_001706 P51451 BLK_HUMAN Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA. 115 SH3. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) ACTTTGTGGCCCGAGTGGAGAG 0.574000 12 5 0 0 6.4e-05 0 0 IL36A 27179 broad.mit.edu 37 2 113765561 113765561 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:113765561C>T uc010yxr.2 + 3 417 c.417C>T c.(415-417)atC>atT p.I139I NM_014440 NP_055255 Q9UHA7 IL36A_HUMAN Homo sapiens interleukin 36, alpha (IL36A), mRNA. 139 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 GTCCTCTCATCCTTACCCAAG 0.507000 44 13 0 0 0.00185496 0 0 BTN1A1 696 broad.mit.edu 37 6 26508836 26508836 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:26508836G>A uc003nif.4 + 6 1072 c.1015G>A c.(1015-1017)Gag>Aag p.E339K NM_001732 NP_001723 Q13410 BT1A1_HUMAN Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA. 339 B30.2/SPRY. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 TGAGAAAACAGAGAGATTTGA 0.517000 163 37 0 0 0.00428921 0 0 MICALCL 84953 broad.mit.edu 37 11 12316171 12316171 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:12316171C>T uc001mkg.1 + 2 1484 c.1193C>T c.(1192-1194)tCc>tTc p.S398F NM_032867 NP_116256 Q6ZW33 MICLK_HUMAN Homo sapiens MICAL C-terminal like (MICALCL), mRNA. 398 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) TCACTTTTTTCCTCCCTCAGA 0.453000 104 37 0 0 0.00170553 0 0 DSPP 1834 broad.mit.edu 37 4 88533960 88533960 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:88533960G>A uc003hqu.3 + 3 742 c.622G>A c.(622-624)Ggt>Agt p.G208S NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN Homo sapiens dentin sialophosphoprotein (DSPP), mRNA. 208 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) TAGAAACGAGGGTAATACAAG 0.438000 23 5 0 0 0.00307968 0 0 SLC15A3 51296 broad.mit.edu 37 11 60705472 60705472 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:60705472G>A uc001nqn.2 - 6 1695 c.1461C>T c.(1459-1461)gcC>gcT p.A487A SLC15A3_uc001nqo.2_Missense_Mutation_p.P431L NM_016582 NP_057666 Q8IY34 S15A3_HUMAN Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA. 487 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2) 17 TGGAGCGCGGGGCCTCTGAGT 0.657000 7 8 0 0 0.00307968 0 0 CCDC87 55231 broad.mit.edu 37 11 66359695 66359695 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:66359695G>A uc001oiq.4 - 0 860 c.792C>T c.(790-792)ttC>ttT p.F264F CCS_uc001oir.3_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA. 264 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GCAGCCAGTGGAAAGGCTTTT 0.532000 19 16 0 0 0.00400662 0 0 TNNT3 7140 broad.mit.edu 37 11 1956059 1956059 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:1956059G>A uc001luu.4 + 14 803 c.591_splice c.e14-1 p.R197_splice TNNT3_uc001lun.2_Splice_Site_p.R93_splice|TNNT3_uc001luw.4_Splice_Site_p.R189_splice|TNNT3_uc001luo.4_Splice_Site_p.R189_splice|TNNT3_uc001lup.4_Splice_Site_p.R195_splice|TNNT3_uc001luq.4_Splice_Site_p.R189_splice|TNNT3_uc001lur.3_Splice_Site_p.R189_splice|TNNT3_uc010qxf.2_Splice_Site_p.R195_splice|TNNT3_uc010qxg.2_Splice_Site_p.R129_splice NM_006757 NP_006748 P45378 TNNT3_HUMAN Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA. 208 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) TCTGCCCCAGGGACAAGGCCA 0.602000 114 48 0 0 0.00361006 0 0 BCAN 63827 broad.mit.edu 37 1 156617345 156617346 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:156617345_156617346CC>TT uc001fpp.3 + 3 848_849 c.512_513CC>TT c.(511-513)tcc>tTT p.S171F BCAN_uc001fpo.3_Missense_Mutation_p.S171F NM_021948 NP_068767 Q96GW7 PGCB_HUMAN Homo sapiens brevican (BCAN), transcript variant 1, mRNA. 171 Link 1. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TATGCTTTCTCCTTTTCTGGGG 0.644000 20 7 0 0 6.4e-05 0 0 ZNF572 137209 broad.mit.edu 37 8 125989878 125989878 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:125989878C>T uc003yrr.3 + 2 1523 c.1368C>T c.(1366-1368)atC>atT p.I456I NM_152412 NP_689625 Q7Z3I7 ZN572_HUMAN Homo sapiens zinc finger protein 572 (ZNF572), mRNA. 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TTAACCTTATCAGGCACCGGA 0.458000 HNSCC(60;0.17) 119 44 0 0 0.00361006 0 0 MYO18B 84700 broad.mit.edu 37 22 26348362 26348362 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:26348362C>T uc003abz.1 + 37 6193 c.5943C>T c.(5941-5943)ttC>ttT p.F1981F MYO18B_uc003aca.1_Silent_p.F1862F|MYO18B_uc010guy.1_Silent_p.F1863F|MYO18B_uc010guz.1_Silent_p.F1861F|MYO18B_uc011aka.1_Silent_p.F1135F|MYO18B_uc011akb.1_Silent_p.F1494F|MYO18B_uc010gva.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 1981 Tail. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AGACAGAGTTCCAGAAGGTGC 0.507000 30 5 0 0 0.00116845 0 0 FCER1A 2205 broad.mit.edu 37 1 159275794 159275794 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:159275794G>A uc001ftq.3 + 4 445 c.348G>A c.(346-348)caG>caA p.Q116Q NM_002001 NP_001992 P12319 FCERA_HUMAN Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA. 116 Ig-like 2. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) TGCTCCTTCAGGCCTCTGCTG 0.458000 22 11 0 0 0.00136819 0 0 UGT1A1 54658 broad.mit.edu 37 2 234591056 234591056 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:234591056C>T uc002vut.3 + 0 473 c.473C>T c.(472-474)gCc>gTc p.A158V UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.A158V NM_019077 NP_061950 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA. 161 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TTAATTGTTGCCAAATATTTC 0.438000 162 62 0 0 0.00361006 0 0 FCRL5 83416 broad.mit.edu 37 1 157514669 157514669 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:157514669C>T uc009wsm.3 - 3 669 c.511G>A c.(511-513)Gaa>Aaa p.E171K FCRL5_uc001fqu.3_Missense_Mutation_p.E171K|FCRL5_uc010phv.1_Missense_Mutation_p.E171K|FCRL5_uc010phw.1_Missense_Mutation_p.E86K|FCRL5_uc001fqv.1_Missense_Mutation_p.E171K|FCRL5_uc010phx.2_5'UTR NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 171 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) CAACAACTTTCCTTATATCCA 0.393000 83 54 0 0 0.00361006 0 0 ZNF90 7643 broad.mit.edu 37 19 20229881 20229881 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:20229881G>A uc002nor.2 + 3 1657 c.1518G>A c.(1516-1518)gaG>gaA p.E506E ZNF90_uc021url.1_Intron NM_007138 NP_009069 Q03938 ZNF90_HUMAN Homo sapiens zinc finger protein 90 (ZNF90), mRNA. 506 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 ACAGTGGAGAGAATCCCTACA 0.403000 15 5 0 0 0.000602214 0 0 GRIA1 2890 broad.mit.edu 37 5 153078433 153078433 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:153078433C>T uc011dcy.2 + 9 1309 c.1282C>T c.(1282-1284)Cct>Tct p.P428S GRIA1_uc003lva.4_Missense_Mutation_p.P418S|GRIA1_uc003luy.4_Missense_Mutation_p.P418S|GRIA1_uc003luz.4_Missense_Mutation_p.P323S|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.P338S|GRIA1_uc011dcx.2_Missense_Mutation_p.P349S|GRIA1_uc011dcz.2_Missense_Mutation_p.P428S|GRIA1_uc010jia.1_Missense_Mutation_p.P398S NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 418 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.N427H(1) NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CCAGGAAGATCCTTATGTGAT 0.488000 41 23 0 0 0.00395357 0 0 ASAP1 50807 broad.mit.edu 37 8 131124539 131124539 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:131124539G>A uc003yta.2 - 23 2430 c.2202C>T c.(2200-2202)ccC>ccT p.P734P ASAP1_uc003ysz.2_Silent_p.P545P|ASAP1_uc011liw.2_Silent_p.P727P NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA. 734 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 TCTGAGGTCTGGGTGAGCGCT 0.547000 27 15 0 0 0.00244969 0 0 MTFR1 9650 broad.mit.edu 37 8 66619433 66619433 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:66619433C>T uc011lep.2 + 5 918 c.706C>T c.(706-708)Cca>Tca p.P236S MTFR1_uc003xvm.2_Missense_Mutation_p.P236S|MTFR1_uc003xvn.2_Missense_Mutation_p.P203S NM_001145839 NP_001139311 Q15390 MTFR1_HUMAN Homo sapiens mitochondrial fission regulator 1 (MTFR1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 236 mitochondrion|plasma membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1) 11 Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194) ACCTGAAATGCCAAATATGCT 0.388000 55 18 0 0 0.000958276 0 0 MYH14 79784 broad.mit.edu 37 19 50795520 50795520 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:50795520C>T uc010enu.1 + 36 5177 c.5130C>T c.(5128-5130)gcC>gcT p.A1710A MYH14_uc002prq.1_Silent_p.A1677A|MYH14_uc002prr.1_Silent_p.A1669A|MYH14_uc010ycb.2_Silent_p.A20A|MYH14_uc002prs.1_Silent_p.A20A NM_001145809 NP_001139281 Q7Z406 MYH14_HUMAN Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA. 1669 axon guidance|regulation of cell shape myosin complex ATP binding|actin binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) CCACCCAGGCCCAGATGAAGG 0.632000 3 7 0 0 0.000274275 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153271692 153271692 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:153271692C>T uc001fbn.1 - 5 797 c.744G>A c.(742-744)caG>caA p.Q248Q NM_052891 NP_443123 Q96LB9 PGRP3_HUMAN Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA. 248 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding p.Q248*(1) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CGCCACCATCCTGGCCCACCA 0.453000 19 10 0 0 0.000673444 0 0 PROSER1 80209 broad.mit.edu 37 13 39611365 39611365 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:39611365G>A uc001uwy.3 - 0 888 c.15C>T c.(13-15)tcC>tcT p.S5S PROSER1_uc001uwz.3_Silent_p.S5S|NHLRC3_uc001uxc.3_5'Flank|NHLRC3_uc001uxd.3_5'Flank|NHLRC3_uc001uxe.3_5'Flank NM_025138 NP_079414 Q86XN7 CM023_HUMAN Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA. 5 CCATTTCAAAGGACTTTTTAT 0.368000 34 17 0 0 0.00121646 0 0 PPBP 5473 broad.mit.edu 37 4 74853053 74853054 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:74853053_74853054GG>AA uc003hhj.3 - 2 409_410 c.322_323CC>TT c.(322-324)cca>TTa p.P108L NM_002704 NP_002695 P02775 CXCL7_HUMAN Homo sapiens pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) (PPBP), mRNA. 108 chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division extracellular space|platelet alpha granule lumen chemokine activity|glucose transmembrane transporter activity|growth factor activity breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2) 10 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) GGGAGCATCTGGGTCCAGGCAG 0.426000 53 25 0 0 6.4e-05 0 0 ASIC5 51802 broad.mit.edu 37 4 156775465 156775465 + Splice_Site SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:156775465A>G uc003ipe.1 - 3 395 c.348_splice c.e3-1 p.R116_splice NM_017419 NP_059115 Q9NY37 ACCN5_HUMAN Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA. 116 integral to membrane|plasma membrane TCTGTTTGGAACCTATTAGCA 0.343000 48 15 0 0 0.00316338 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178699945 178699945 + Missense_Mutation SNP G A A rs146217716 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:178699945G>A uc003mjw.3 - 2 757 c.655C>T c.(655-657)Cct>Tct p.P219S ADAMTS2_uc011dgm.2_Missense_Mutation_p.P219S NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 219 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.P219S(2) 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) CCGAGAGGAGGGGACGTGGGT 0.672000 24 11 0 0 0.000978159 0 0 GABRA1 2554 broad.mit.edu 37 5 161281227 161281227 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:161281227G>A uc010jiw.3 + 3 606 c.138G>A c.(136-138)ttG>ttA p.L46L GABRA1_uc010jix.3_Silent_p.L46L|GABRA1_uc010jiy.3_Silent_p.L46L|GABRA1_uc003lyx.4_Silent_p.L46L|GABRA1_uc010jiz.3_Silent_p.L46L|GABRA1_uc010jja.3_Silent_p.L46L|GABRA1_uc010jjb.3_Silent_p.L46L NM_000806 NP_001121120 P14867 GBRA1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA. 46 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CCAGGATTTTGGACAGACTCC 0.363000 95 35 0 0 0.00128727 0 0 PDE1A 5136 broad.mit.edu 37 2 183104855 183104855 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:183104855G>A uc002uos.3 - 3 464 c.380C>T c.(379-381)gCt>gTt p.A127V PDE1A_uc010zfp.1_Missense_Mutation_p.A23V|PDE1A_uc002uoq.1_Missense_Mutation_p.A127V|PDE1A_uc010zfq.1_Missense_Mutation_p.A127V|PDE1A_uc002uor.3_Missense_Mutation_p.A111V|PDE1A_uc002uou.3_Missense_Mutation_p.A93V NM_001003683 NP_001003683 P54750 PDE1A_HUMAN Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA. 127 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) AAAAATTCCAGCTTGAACAGC 0.403000 93 31 0 0 0.00327116 0 0 METTL24 728464 broad.mit.edu 37 6 110620142 110620142 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:110620142C>T uc010kdu.1 - 3 769 c.769G>A c.(769-771)Gaa>Aaa p.E257K METTL24_uc003pub.2_Missense_Mutation_p.E60K NM_001123364 NP_001116836 Q5JXM2 CF186_HUMAN Homo sapiens chromosome 6 open reading frame 186 (C6orf186), mRNA. 257 extracellular region TGTCCAAATTCATTCAAAATG 0.398000 32 14 0 0 0.00185496 0 0 TRRAP 8295 broad.mit.edu 37 7 98575844 98575844 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:98575844C>T uc003upp.3 + 55 8584 c.8375C>T c.(8374-8376)tCc>tTc p.S2792F TRRAP_uc011kis.2_Missense_Mutation_p.S2774F|TRRAP_uc003upr.3_Missense_Mutation_p.S2491F NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 2792 FAT. histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GCACAAGAATCCTATGAAAAG 0.338000 87 39 0 0 0.00195071 0 0 PER3 8863 broad.mit.edu 37 1 7886711 7886711 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:7886711C>T uc001aop.3 + 15 2353 c.2129C>T c.(2128-2130)cCc>cTc p.P710L PER3_uc009vmg.1_Missense_Mutation_p.P710L|PER3_uc009vmh.1_Missense_Mutation_p.P703L|PER3_uc001aoo.3_Missense_Mutation_p.P702L|PER3_uc010nzw.2_Missense_Mutation_p.P391L NM_016831 NP_058515 P56645 PER3_HUMAN Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA. 702 CSNK1E binding domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) CTGTCATCACCCTACAGCTCC 0.388000 17 9 0 0 0.000978159 0 0 SIGLEC17P 284367 broad.mit.edu 37 19 51671589 51671589 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:51671589T>C uc010ycv.2 + 2 738 c.728T>C c.(727-729)gTg>gCg p.V243A SIGLEC17P_uc010ycu.2_Missense_Mutation_p.V243A|SIGLEC17P_uc002pvy.4_Missense_Mutation_p.V243A|SIGLEC17P_uc002pvz.4_Missense_Mutation_p.V243A Homo sapiens sialic acid binding Ig-like lectin, pseudogene 3 (SIGLECP3), non-coding RNA. GGAGCTGGTGTGACCACGGAG 0.627000 12 8 0 0 0.000274275 0 0 MKS1 54903 broad.mit.edu 37 17 56293523 56293523 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:56293523C>T uc002ivr.2 - 3 418 c.343G>A c.(343-345)Gag>Aag p.E115K MKS1_uc010wnq.2_5'UTR|MKS1_uc021uam.1_Missense_Mutation_p.E105K NM_017777 NP_060247 Q9NXB0 MKS1_HUMAN Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA. 115 cilium assembly centrosome|cilium|microtubule basal body protein binding endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 CCCGAATTCTCCAGCTTCAGG 0.428000 107 31 0 0 0.0024448 0 0 MME 4311 broad.mit.edu 37 3 154859807 154859807 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:154859807G>A uc010hvr.1 + 10 1196 c.985G>A c.(985-987)Gaa>Aaa p.E329K MME_uc003fab.1_Missense_Mutation_p.E329K|MME_uc003fac.1_Missense_Mutation_p.E329K|MME_uc003fad.1_Missense_Mutation_p.E329K|MME_uc003fae.1_Missense_Mutation_p.E329K NM_007289 NP_009220 P08473 NEP_HUMAN Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA. 329 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) TTTCACAAATGAAATCATGTC 0.343000 56 21 0 0 0.00121646 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33406562 33406562 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:33406562C>T uc011dri.2 + 9 1737 c.1542C>T c.(1540-1542)atC>atT p.I514I SYNGAP1_uc003oeo.1_Silent_p.I499I|SYNGAP1_uc010juy.3_Silent_p.I499I|SYNGAP1_uc010juz.3_Silent_p.I226I NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA. 514 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 GAGAATTCATCCGTGCTCTGT 0.557000 134 34 0 0 0.000953801 0 0 RAVER2 55225 broad.mit.edu 37 1 65296648 65296648 + Nonsense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:65296648A>T uc001dbt.2 + 9 1740 c.1693A>T c.(1693-1695)Aaa>Taa p.K565* RAVER2_uc001dbs.2_Nonsense_Mutation_p.K673*|RAVER2_uc010opb.2_Nonsense_Mutation_p.K398* NM_018211 NP_060681 Q9HCJ3 RAVR2_HUMAN Homo sapiens ribonucleoprotein, PTB-binding 2 (RAVER2), mRNA. 686 cytoplasm|nucleus RNA binding|nucleotide binding p.R565W(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 AACTTACTTAAAAAAGAAGCG 0.438000 69 69 0 0 0.00361006 0 0 COL6A6 131873 broad.mit.edu 37 3 130287097 130287097 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:130287097G>A uc010htl.3 + 4 2081 c.2050G>A c.(2050-2052)Gac>Aac p.D684N NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 684 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GTCCCAAAGCGACATTTCAAA 0.478000 125 54 0 0 0.00361006 0 0 SPOCD1 90853 broad.mit.edu 37 1 32265028 32265028 + Silent SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:32265028A>G uc001bts.1 - 6 1900 c.1842T>C c.(1840-1842)cgT>cgC p.R614R SPOCD1_uc001btu.3_Silent_p.R614R|SPOCD1_uc001btv.3_Silent_p.R107R|SPOCD1_uc021oks.1_5'Flank|SPOCD1_uc001btw.1_5'Flank NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA. 614 TFIIS central. transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CCTGCATGGAACGGACAACAG 0.652000 16 4 0 0 0.00307968 0 0 LAMA3 3909 broad.mit.edu 37 18 21426417 21426417 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:21426417C>T uc002kuq.3 + 30 3962 c.3876C>T c.(3874-3876)atC>atT p.I1292I LAMA3_uc002kur.3_Silent_p.I1292I NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 1292 Domain III B.|Laminin EGF-like 9. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.I1292I(2) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAACGTCATCGGGCGGCAGT 0.657000 15 6 0 0 0.00198382 0 0 STEAP4 79689 broad.mit.edu 37 7 87912423 87912423 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:87912423G>A uc022agz.1 - 3 740 c.517C>T c.(517-519)Ctt>Ttt p.L173F STEAP4_uc003ujs.3_Missense_Mutation_p.L173F|STEAP4_uc010lek.3_Intron NM_001205315 NP_001192244 Q687X5 STEA4_HUMAN Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA. 173 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) GTAAGTCCAAGATTACGAACA 0.388000 40 13 0 0 0.00244969 0 0 POM121 9883 broad.mit.edu 37 7 72413897 72413898 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:72413897_72413898CC>TT uc003twk.2 + 10 3365_3366 c.3365_3366CC>TT c.(3364-3366)acc>aTT p.T1122I POM121_uc003twj.3_Missense_Mutation_p.T857I|POM121_uc010lam.1_Missense_Mutation_p.T857I NM_172020 NP_742017 Q96HA1 P121A_HUMAN Homo sapiens POM121 membrane glycoprotein (POM121), mRNA. 1122 Pore side (Potential). 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) GGCTCCAGCACCACCACCGGAG 0.639000 10 8 0 0 6.4e-05 0 0 C12orf40 283461 broad.mit.edu 37 12 40085867 40085867 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:40085867G>A uc001rmc.3 + 10 1531 c.1364G>A c.(1363-1365)gGa>gAa p.G455E C12orf40_uc009zjv.1_Non-coding_Transcript NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA. 455 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 ATGGAAGAAGGAGGAATATAT 0.254000 23 13 0 0 0.000566183 0 0 TUBB1 81027 broad.mit.edu 37 20 57599799 57599799 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:57599799G>A uc002yak.3 + 3 1586 c.1317G>A c.(1315-1317)acG>acA p.T439T NM_030773 NP_110400 Q9H4B7 TBB1_HUMAN Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA. 439 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) AAGAGGTCACGGAGGAGGCAG 0.443000 19 29 0 0 0.00127121 0 0 SP140L 93349 broad.mit.edu 37 2 231253340 231253340 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:231253340G>A uc010fxm.1 + 9 942 c.851G>A c.(850-852)cGa>cAa p.R284Q SP140L_uc010fxo.1_Missense_Mutation_p.R91Q NM_138402 NP_612411 Q9H930 LY10L_HUMAN Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA. 284 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 AAAAGAGTCCGATCAAGAGGT 0.353000 19 8 0 0 0.000274275 0 0 GJA10 84694 broad.mit.edu 37 6 90605712 90605712 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:90605712G>A uc011eaa.2 + 0 1525 c.1525G>A c.(1525-1527)Ggg>Agg p.G509R NM_032602 NP_115991 Q969M2 CXA10_HUMAN Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA. 509 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) CTTTCTTCCTGGGGTGTGTAT 0.403000 53 16 0 0 0.00400662 0 0 ARMC4 55130 broad.mit.edu 37 10 28149605 28149605 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:28149605G>A uc009xky.3 - 18 3068 c.2970C>T c.(2968-2970)ctC>ctT p.L990L ARMC4_uc010qds.2_Silent_p.L515L|ARMC4_uc010qdt.2_Silent_p.L682L|ARMC4_uc001itz.3_Silent_p.L990L NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 990 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CGTCTTCTGAGAGTTGGTACA 0.483000 61 27 0 0 0.00106085 0 0 C3 718 broad.mit.edu 37 19 6682022 6682022 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:6682022C>T uc002mfm.3 - 34 4342 c.4280G>A c.(4279-4281)aGa>aAa p.R1427K NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 1427 Properdin-binding. G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding p.D1426E(1) breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GGAGATGTATCTGTCAACACC 0.552000 61 30 0 0 0.0024448 0 0 MYO3B 140469 broad.mit.edu 37 2 171092559 171092559 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:171092559C>T uc002ufy.3 + 6 805 c.662C>T c.(661-663)tCc>tTc p.S221F MYO3B_uc002ufv.3_Missense_Mutation_p.S208F|MYO3B_uc010fqb.1_Missense_Mutation_p.S221F|MYO3B_uc002ufz.3_Missense_Mutation_p.S221F|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Missense_Mutation_p.S208F NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA. 221 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex ATP binding|actin binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GACGTCTGGTCCTTGGGGATC 0.493000 OREG0014376 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 66 25 0 0 0.000878237 0 0 CACNA1G 8913 broad.mit.edu 37 17 48678463 48678463 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:48678463G>A uc002irk.1 + 18 4215 c.3843G>A c.(3841-3843)gtG>gtA p.V1281V CACNA1G_uc002iri.1_Silent_p.V1281V|CACNA1G_uc002irj.1_Silent_p.V1258V|CACNA1G_uc002irl.1_Silent_p.V1258V|CACNA1G_uc002irm.1_Silent_p.V1258V|CACNA1G_uc002irn.1_Silent_p.V1258V|CACNA1G_uc002iro.1_Silent_p.V1258V|CACNA1G_uc002irp.1_Silent_p.V1281V|CACNA1G_uc002irq.1_Silent_p.V1258V|CACNA1G_uc002irr.1_Silent_p.V1281V|CACNA1G_uc002irs.1_Silent_p.V1281V|CACNA1G_uc002irt.1_Silent_p.V1281V|CACNA1G_uc002iru.1_Silent_p.V1258V|CACNA1G_uc002irv.1_Silent_p.V1281V|CACNA1G_uc002irw.1_Silent_p.V1258V|CACNA1G_uc002irx.1_Silent_p.V1194V|CACNA1G_uc002iry.1_Silent_p.V1194V|CACNA1G_uc002isg.1_Silent_p.V1194V|CACNA1G_uc002ish.1_Silent_p.V1194V|CACNA1G_uc002isi.1_Silent_p.V1171V|CACNA1G_uc002irz.1_Silent_p.V1194V|CACNA1G_uc002isa.1_Silent_p.V1194V|CACNA1G_uc002isd.1_Silent_p.V1194V|CACNA1G_uc002isb.1_Silent_p.V1194V|CACNA1G_uc002isc.1_Silent_p.V1194V|CACNA1G_uc002ise.1_Silent_p.V1194V|CACNA1G_uc002isf.1_Silent_p.V1194V|CACNA1G_uc002isj.3_Silent_p.V5V NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 1281 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) TCGACCACGTGGTCCTTGTCA 0.612000 94 20 0 0 0.00332997 0 0 MYO7B 4648 broad.mit.edu 37 2 128370139 128370139 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:128370139A>G uc002top.3 + 24 3334 c.3281A>G c.(3280-3282)cAc>cGc p.H1094R NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN Homo sapiens myosin VIIB (MYO7B), mRNA. 1094 MyTH4 1. apical plasma membrane|myosin complex ATP binding|actin binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GAGAAGGTGCACTTCATCGTG 0.607000 6 4 0 0 0.00024832 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130220398 130220398 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:130220398C>T uc004evz.3 + 9 1722 c.1377C>T c.(1375-1377)atC>atT p.I459I ARHGAP36_uc004ewa.3_Silent_p.I447I|ARHGAP36_uc004ewb.3_Silent_p.I428I|ARHGAP36_uc004ewc.3_Silent_p.I323I NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA. 459 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TGAGGAAGATCCAGTGAGTGT 0.468000 15 32 0 0 0.00327116 0 0 PPP3R2 5535 broad.mit.edu 37 9 104356900 104356900 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:104356900C>T uc004bbr.3 - 0 384 c.313G>A c.(313-315)Gat>Aat p.D105N GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA. 102 EF-hand 3. calcium ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) CCATCTTTATCCATGTCGTAA 0.532000 60 54 0 0 0.00361006 0 0 OR7D4 125958 broad.mit.edu 37 19 9324745 9324745 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9324745C>T uc002mla.2 - 0 803 c.769G>A c.(769-771)Ggg>Agg p.G257R NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA. 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 AGATAGACCCCAAGTCCTGTT 0.527000 20 13 0 0 0.00185496 0 0 ALPK2 115701 broad.mit.edu 37 18 56203320 56203320 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:56203320C>T uc002lhj.4 - 4 4313 c.4099G>A c.(4099-4101)Gaa>Aaa p.E1367K ALPK2_uc002lhk.1_Missense_Mutation_p.E698K NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 1367 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTAACATTTTCCTTCCCTCCA 0.453000 64 31 0 0 0.00327116 0 0 LPPR5 163404 broad.mit.edu 37 1 99418669 99418669 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:99418669G>A uc001dsb.3 - 2 800 c.578C>T c.(577-579)tCc>tTc p.S193F LPPR5_uc001dsc.3_Missense_Mutation_p.S193F NM_001037317 NP_001032394 Q32ZL2 LPPR5_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 5 (LPPR5), transcript variant 1, mRNA. 193 integral to membrane hydrolase activity TGCTTCTTTGGATGGAAAGGT 0.408000 69 21 0 0 0.00188189 0 0 GPR97 222487 broad.mit.edu 37 16 57707306 57707306 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:57707306G>A uc002emh.3 + 1 235 c.132G>A c.(130-132)ttG>ttA p.L44L GPR97_uc010cdc.3_Silent_p.L44L|GPR97_uc010vhv.2_5'UTR|GPR97_uc010cdd.3_Non-coding_Transcript NM_170776 NP_740746 Q86Y34 GPR97_HUMAN Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA. 44 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TCTTCAACTTGAATGACAAGG 0.547000 23 18 0 0 0.00188189 0 0 SACS 26278 broad.mit.edu 37 13 23906653 23906653 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:23906653G>A uc001uon.2 - 9 11951 c.11362C>T c.(11362-11364)Cgt>Tgt p.R3788C SACS_uc001uoo.2_Missense_Mutation_p.R3641C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 3788 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding p.R3641C(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AACTGAAAACGAAATTCCCTT 0.383000 40 25 0 0 0.000720815 0 0 CDK13 8621 broad.mit.edu 37 7 40102466 40102466 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:40102466C>T uc003thh.4 + 7 2924 c.2642C>T c.(2641-2643)cCa>cTa p.P881L CDK13_uc003thi.4_Missense_Mutation_p.P881L|CDK13_uc011kbf.2_Missense_Mutation_p.P267L|CDK13_uc003thj.3_5'UTR NM_003718 NP_003709 Q14004 CDK13_HUMAN Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA. 881 Protein kinase. alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding p.R880S(2) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 TGGTACCGTCCACCTGAACTG 0.388000 248 120 0 0 0.00361006 0 0 OR2A25 392138 broad.mit.edu 37 7 143771942 143771942 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:143771942C>T uc011ktx.2 + 0 630 c.630C>T c.(628-630)ttC>ttT p.F210F NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F210F(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TGGGAGCCTTCTTTTCCACTG 0.473000 66 35 0 0 0.00375469 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141858 133141858 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:133141858C>T uc003ytj.3 - 14 2495 c.2270G>A c.(2269-2271)cGa>cAa p.R757Q KCNQ3_uc003yti.3_Missense_Mutation_p.R637Q|KCNQ3_uc010mdt.3_Missense_Mutation_p.R745Q NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 757 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) GCAGCTCACTCGGGAGTCGAG 0.602000 16 9 0 0 0.000274275 0 0 ABCC3 8714 broad.mit.edu 37 17 48768473 48768473 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:48768473G>A uc002isl.3 + 30 4576 c.4496G>A c.(4495-4497)gGa>gAa p.G1499E ABCC3_uc002isn.3_Missense_Mutation_p.G253E NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 1499 ABC transporter 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CTGGACAAAGGAGTAGTAGCT 0.488000 30 25 0 0 0.00395357 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359170 64359170 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:64359170C>T uc001oam.1 + 0 889 c.142C>T c.(142-144)Cgc>Tgc p.R48C SLC22A12_uc009ypr.1_Missense_Mutation_p.R48C|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.R48C|SLC22A12_uc001oan.1_Missense_Mutation_p.R48C|SLC22A12_uc009ypt.3_5'Flank NM_144585 NP_700357 Q96S37 S22AC_HUMAN Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA. 48 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity p.S41fs*22(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 GCCCAGCCACCGCTGCTGGGC 0.637000 12 7 0 0 0.00307968 0 0 COL6A1 1291 broad.mit.edu 37 21 47412099 47412099 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:47412099C>T uc002zhu.1 + 16 1306 c.1204C>T c.(1204-1206)Ccc>Tcc p.P402S NM_001848 NP_001839 P12109 CO6A1_HUMAN Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA. 402 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) AGAGCCTGGGCCCCCCGGAGA 0.642000 27 10 0 0 0.00136819 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41735042 41735042 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:41735042C>T uc003azw.3 + 8 879 c.663C>T c.(661-663)ctC>ctT p.L221L NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA. 237 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CAGCCCTTCTCCCCTCCACGC 0.677000 88 36 0 0 0.00222228 0 0 IARS2 55699 broad.mit.edu 37 1 220312353 220312353 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:220312353A>G uc001hmc.3 + 17 2283 c.2179A>G c.(2179-2181)Agg>Ggg p.R727G NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA. 727 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) TGAATAGCTTAGGAATACACT 0.333000 41 29 0 0 0.00428921 0 0 BRIP1 83990 broad.mit.edu 37 17 59770874 59770874 + Splice_Site SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:59770874C>T uc002izk.2 - 18 2799 c.2493_splice c.e18-1 p.R831_splice BRIP1_uc002izl.1_Splice_Site_p.R212_splice NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA. 831 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 TCTAATACATCTAGAAAAAAT 0.343000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 70 83 0 0 0.00361006 0 0 IDE 3416 broad.mit.edu 37 10 94291658 94291658 + Silent SNP G A A rs34747737 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:94291658G>A uc001kia.3 - 3 584 c.508C>T c.(508-510)Ctg>Ttg p.L170L NM_004969 NP_004960 P14735 IDE_HUMAN Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA. 170 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAGGGGCACAGAAAAAACTGT 0.353000 132 126 0 0 0.00361006 0 0 RAI2 10742 broad.mit.edu 37 X 17819392 17819392 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:17819392G>A uc022btm.1 - 0 739 c.739C>T c.(739-741)Ccc>Tcc p.P247S RAI2_uc004cyf.3_Missense_Mutation_p.P247S|RAI2_uc004cyg.3_Missense_Mutation_p.P247S|RAI2_uc011miy.2_Missense_Mutation_p.P197S|RAI2_uc022btl.1_Missense_Mutation_p.P247S|RAI2_uc004cyh.4_Missense_Mutation_p.P247S|RAI2_uc010nfa.3_Missense_Mutation_p.P247S NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA. 247 Pro-rich. embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) ATGGGGATGGGAATAGGGACT 0.587000 12 27 0 0 0.00106085 0 0 ATP2A1 487 broad.mit.edu 37 16 28912174 28912174 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:28912174G>A uc002dro.1 + 14 2221 c.2037G>A c.(2035-2037)gtG>gtA p.V679V NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Silent_p.V679V|ATP2A1_uc002drp.1_Silent_p.V554V NM_173201 NP_775293 O14983 AT2A1_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA. 679 ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity p.R678H(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 TCGCCCGTGTGGAGCCCTCGC 0.637000 38 24 0 0 0.00127121 0 0 SULF1 23213 broad.mit.edu 37 8 70533414 70533414 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:70533414G>A uc003xyg.2 + 12 2083 c.1522G>A c.(1522-1524)Gag>Aag p.E508K SULF1_uc010lza.1_Missense_Mutation_p.E508K|SULF1_uc003xyd.2_Missense_Mutation_p.E508K|SULF1_uc003xye.2_Missense_Mutation_p.E508K|SULF1_uc003xyf.2_Missense_Mutation_p.E508K|SULF1_uc003xyh.1_Non-coding_Transcript NM_001128206 NP_055985 Q8IWU6 SULF1_HUMAN Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA. 508 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway Golgi stack|cell surface|endoplasmic reticulum|extracellular space arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CAGTTGTAGGGAGTCTGGTTA 0.527000 45 20 0 0 0.00229938 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069466 114069466 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:114069466G>A uc003ebi.3 - 3 1639 c.1459C>T c.(1459-1461)Ctg>Ttg p.L487L ZBTB20_uc003ebj.3_Silent_p.L414L|ZBTB20_uc010hqp.3_Silent_p.L414L|ZBTB20_uc003ebk.3_Silent_p.L414L|ZBTB20_uc003ebl.3_Silent_p.L414L|ZBTB20_uc003ebm.3_Silent_p.L414L|ZBTB20_uc003ebn.3_Silent_p.L414L|ZBTB20-AS1_uc003ebo.2_5'Flank NM_001164342 NP_056457 Q9HC78 ZBT20_HUMAN Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA. 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L487L(1) 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) GGCATCCTCAGGTTGCTGGTG 0.592000 33 18 0 0 0.00121646 0 0 OR1J2 26740 broad.mit.edu 37 9 125273119 125273119 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:125273119C>T uc011lyv.2 + 0 39 c.39C>T c.(37-39)ctC>ctT p.L13L OR1J2_uc004bmj.2_Silent_p.L13L NM_054107 NP_473448 Q8NGS2 OR1J2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA. 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 CCGAGTTCCTCCTTCTGGGCC 0.547000 146 38 0 0 0.0025221 0 0 EPPK1 83481 broad.mit.edu 37 8 144945056 144945056 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:144945056G>A uc003zaa.1 - 0 2379 c.2366C>T c.(2365-2367)cCc>cTc p.P789L NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 789 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) GCCCGTCTCGGGGTCACGCAC 0.627000 24 9 0 0 0.000442599 0 0 MLL2 8085 broad.mit.edu 37 19 36218489 36218489 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:36218489C>T uc021usv.1 + 15 4268 c.4268C>T c.(4267-4269)tCc>tTc p.S1423F MLL2_uc021usu.1_Missense_Mutation_p.S237F NM_014727 NP_055542 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA. 0 Cys-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 CTGCTGAGCTCCAAGGTGGTG 0.741000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 17 7 0 0 0.00307968 0 0 PTGS1 5742 broad.mit.edu 37 9 125148901 125148901 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:125148901G>A uc004bmg.1 + 8 1321 c.1186G>A c.(1186-1188)Gtg>Atg p.V396M PTGS1_uc011lys.1_Splice_Site_p.K370_splice|PTGS1_uc010mwb.1_Splice_Site_p.K286_splice|PTGS1_uc004bmf.1_Splice_Site_p.K395_splice|PTGS1_uc004bmh.1_Missense_Mutation_p.V287M|PTGS1_uc011lyt.1_Missense_Mutation_p.V287M NM_000962 NP_000953 P23219 PGH1_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA. 396 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154) CTCCTTCAAGGTGGGCTCCCA 0.557000 130 36 0 0 0.00428921 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21453303 21453303 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:21453303C>T uc001rer.3 - 6 1140 c.889G>A c.(889-891)Gaa>Aaa p.E297K SLCO1A2_uc010siq.2_Missense_Mutation_p.E165K|SLCO1A2_uc001res.3_Missense_Mutation_p.E297K|SLCO1A2_uc010sio.2_Missense_Mutation_p.E165K|SLCO1A2_uc010sip.2_Missense_Mutation_p.E165K|SLCO1A2_uc001ret.3_Missense_Mutation_p.E295K|SLCO1A2_uc001reu.2_Missense_Mutation_p.E277K NM_021094 NP_602307 P46721 SO1A2_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA. 297 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 CCATATTTTTCCTTCTTGACC 0.294000 37 7 0 0 0.00198382 0 0 ANK3 288 broad.mit.edu 37 10 61833876 61833876 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:61833876G>A uc001jky.3 - 36 7101 c.6763C>T c.(6763-6765)Cat>Tat p.H2255Y ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 2255 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGTGGAGAATGATAAACCATT 0.463000 55 32 0 0 0.00375469 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205308473 205308473 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:205308473C>T uc001hcf.1 - 3 1174 c.606G>A c.(604-606)tgG>tgA p.W202* KLHDC8A_uc010prg.1_Nonsense_Mutation_p.W89*|KLHDC8A_uc001hcg.1_Nonsense_Mutation_p.W202* NM_018203 NP_060673 Q8IYD2 KLD8A_HUMAN Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA. 202 breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) GAAACTTGGTCCAGGAGCGAG 0.582000 16 7 0 0 0.000274275 0 0 SCAPER 49855 broad.mit.edu 37 15 77067374 77067374 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:77067374G>A uc002bby.3 - 7 916 c.857C>T c.(856-858)tCa>tTa p.S286L SCAPER_uc002bbx.3_Missense_Mutation_p.S40L|SCAPER_uc002bbz.1_Missense_Mutation_p.S151L|SCAPER_uc002bca.1_Missense_Mutation_p.S151L|SCAPER_uc002bcb.1_Missense_Mutation_p.S286L|SCAPER_uc002bcc.1_Missense_Mutation_p.S286L NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA. 285 endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 TGTTGCCAATGAAACTTTTGG 0.403000 47 119 0 0 0.00361006 0 0 TLL2 7093 broad.mit.edu 37 10 98205860 98205860 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:98205860C>T uc001kml.2 - 2 593 c.352G>A c.(352-354)Gaa>Aaa p.E118K TLL2_uc009xvf.2_Missense_Mutation_p.E118K NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN Homo sapiens tolloid-like 2 (TLL2), mRNA. 118 cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TTTCCAGCTTCCTTGGTGCCA 0.483000 50 44 0 0 0.00361006 0 0 LINC00478 388815 broad.mit.edu 37 21 17443452 17443452 + RNA SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:17443452T>C uc002ykb.2 + 1 c.46T>C LINC00478_uc010glc.2_Non-coding_Transcript Homo sapiens long intergenic non-protein coding RNA 478 (LINC00478), transcript variant 1, non-coding RNA. GAGAACGCTGTCTGGGCTTGG 0.468000 120 49 0 0 0.00361006 0 0 COL4A2 1284 broad.mit.edu 37 13 111109730 111109730 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:111109730C>T uc001vqx.3 + 20 1669 c.1380C>T c.(1378-1380)ggC>ggT p.G460G NM_001846 NP_001837 P08572 CO4A2_HUMAN Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA. 460 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) GAAGAGCAGGCTTCCCTGGGC 0.617000 25 7 0 0 0.000673444 0 0 KCNB2 9312 broad.mit.edu 37 8 73849889 73849889 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:73849889C>T uc003xzb.3 + 2 2887 c.2299C>T c.(2299-2301)Ccc>Tcc p.P767S NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 767 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GGGAGACAGACCCTTGCTGGG 0.562000 48 24 0 0 0.00332997 0 0 TTN 7273 broad.mit.edu 37 2 179596691 179596691 + Silent SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179596691A>G uc021vsy.1 - 54 13404 c.13179T>C c.(13177-13179)ccT>ccC p.P4393P TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.P1054P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5320 Ig-like 24. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGTAAAATAAGGTGACTCTA 0.443000 56 17 0 0 0.00121646 0 0 RSAD1 55316 broad.mit.edu 37 17 48559766 48559766 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:48559766C>T uc002iqw.1 + 3 845 c.789C>T c.(787-789)gtC>gtT p.V263V RSAD1_uc010wmq.1_Non-coding_Transcript NM_018346 NP_060816 Q9HA92 RSAD1_HUMAN Homo sapiens radical S-adenosyl methionine domain containing 1 (RSAD1), mRNA. 263 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GCCGGGCTGTCCTTCGGGAGG 0.647000 OREG0024567 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 11 0 0 0.000978159 0 0 RGPD3 653489 broad.mit.edu 37 2 107041046 107041046 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:107041046G>A uc010ywi.1 - 19 3434 c.3377C>T c.(3376-3378)tCa>tTa p.S1126L NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 1126 RanBD1 1. intracellular transport binding p.S1126T(2) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TGCTCTATCTGATCCAGAGAG 0.428000 125 53 0 0 0.00361006 0 0 CASR 846 broad.mit.edu 37 3 121980867 121980867 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:121980867G>A uc003eew.4 + 3 1423 c.985G>A c.(985-987)Ggc>Agc p.G329S CASR_uc003eev.4_Missense_Mutation_p.G329S NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 329 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) GCAGATCCCAGGCTTCCGGGA 0.557000 30 15 0 0 0.00316338 0 0 CCBE1 147372 broad.mit.edu 37 18 57103238 57103238 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:57103238G>A uc002lib.3 - 10 1193 c.1123C>T c.(1123-1125)Ccc>Tcc p.P375S CCBE1_uc010dpq.3_Missense_Mutation_p.P104S|CCBE1_uc002lia.3_Missense_Mutation_p.P228S NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA. 375 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) GGGTAGCTGGGAAATTCCTGA 0.537000 99 39 0 0 0.00111076 0 0 ITPR2 3709 broad.mit.edu 37 12 26639045 26639045 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:26639045C>T uc001rhg.3 - 40 6220 c.5803G>A c.(5803-5805)Gaa>Aaa p.E1935K ITPR2_uc009zjg.1_Missense_Mutation_p.E86K NM_002223 NP_002214 Q14571 ITPR2_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA. 1935 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity p.R1934Q(1) ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) ACCTGCAATTCCCGGTTGTGA 0.388000 49 28 0 0 0.00283554 0 0 FAM116A 201627 broad.mit.edu 37 3 57649398 57649398 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:57649398G>A uc003dja.3 - 4 549 c.478C>T c.(478-480)Cga>Tga p.R160* NM_152678 NP_689891 Q8IWF6 F116A_HUMAN Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA. 160 breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607) GTTTTATCTCGAACTTGTCGG 0.308000 66 21 0 0 0.00127121 0 0 TTN 7273 broad.mit.edu 37 2 179600576 179600576 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179600576G>A uc021vsy.1 - 46 11090 c.10865C>T c.(10864-10866)tCt>tTt p.S3622F TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S283F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4549 Ig-like 22. 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) AGCCTTACAAGAATAAACTCC 0.418000 50 19 0 0 0.00121646 0 0 ACTR3C 653857 broad.mit.edu 37 7 149986577 149986577 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:149986577G>A uc003wgu.2 - 3 449 c.259C>T c.(259-261)Cct>Tct p.P87S ACTR3C_uc022aps.1_Missense_Mutation_p.P87S NM_001164459 NP_001157931 Q9C0K3 ARP3C_HUMAN Homo sapiens ARP3 actin-related protein 3 homolog C (yeast) (ACTR3C), transcript variant 2, mRNA. 87 regulation of actin filament polymerization cytoskeleton ATP binding|actin binding TGCTCAGGAGGGATTCCCACC 0.483000 7 3 0 0 0.00116845 0 0 CATSPERB 79820 broad.mit.edu 37 14 92171042 92171042 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:92171042G>A uc001xzs.1 - 6 610 c.470C>T c.(469-471)cCg>cTg p.P157L NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 157 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.P157L(2) NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) CTGAAGAATCGGTTCTGTGGA 0.388000 38 16 0 0 0.00316338 0 0 RYR2 6262 broad.mit.edu 37 1 237777442 237777442 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:237777442G>A uc001hyl.1 + 36 5134 c.5014G>A c.(5014-5016)Gtg>Atg p.V1672M NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 1672 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.A1671A(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAACCACCGGGTGGCCCATGC 0.522000 33 14 0 0 0.00400662 0 0 RUNX1T1 862 broad.mit.edu 37 8 93017372 93017372 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:93017372C>T uc022axs.1 - 5 1076 c.889G>A c.(889-891)Gaa>Aaa p.E297K RUNX1T1_uc003yfc.2_Missense_Mutation_p.E211K|RUNX1T1_uc010mam.3_Missense_Mutation_p.E211K|RUNX1T1_uc003yfe.2_Missense_Mutation_p.E201K|RUNX1T1_uc003yfd.3_Missense_Mutation_p.E238K|RUNX1T1_uc022axo.1_Missense_Mutation_p.E238K|RUNX1T1_uc010mao.3_Missense_Mutation_p.E211K|RUNX1T1_uc011lgi.2_Missense_Mutation_p.E249K|RUNX1T1_uc022axp.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axq.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axr.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axt.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axu.1_Missense_Mutation_p.E218K|RUNX1T1_uc022axv.1_Missense_Mutation_p.E238K|RUNX1T1_uc003yfb.2_Missense_Mutation_p.E201K|RUNX1T1_uc003yff.1_Missense_Mutation_p.E201K NM_001198679 NP_001185608 Q06455 MTG8_HUMAN Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA. 238 Poly-Pro. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E238K(1)|p.E201K(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TTCCCGTTTTCGTTCACATCG 0.542000 81 25 0 0 0.000878237 0 0 F10 2159 broad.mit.edu 37 13 113803237 113803237 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:113803237G>A uc001vsx.3 + 7 930 c.873G>A c.(871-873)cgG>cgA p.R291R F10_uc001vsy.3_Missense_Mutation_p.G288E NM_000504 NP_000495 P00742 FA10_HUMAN Homo sapiens coagulation factor X (F10), mRNA. 291 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|extracellular region calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGGGGACCGGAACACGGAGC 0.542000 90 37 0 0 0.00148497 0 0 C7 730 broad.mit.edu 37 5 40962188 40962188 + Splice_Site SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:40962188T>C uc003jmh.3 + 13 1776 c.1662_splice c.e13-1 p.R554_splice C7_uc011cpn.1_Splice_Site NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 554 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) TCCTTCCAGGTTGCTTGAACC 0.358000 14 5 0 0 0.000602214 0 0 OR52A5 390054 broad.mit.edu 37 11 5153745 5153745 + Missense_Mutation SNP C T T rs145415920 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:5153745C>T uc010qyx.2 - 0 128 c.128G>A c.(127-129)gGa>gAa p.G43E NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA. 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G43E(2)|p.G43R(1)|p.G43*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) TAGGGAATTTCCAATCACACC 0.403000 35 11 0 0 0.000978159 0 0 NLRP7 199713 broad.mit.edu 37 19 55450931 55450931 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55450931G>A uc002qih.4 - 3 1332 c.1256C>T c.(1255-1257)gCc>gTc p.A419V NLRP7_uc010esk.3_Missense_Mutation_p.A419V|NLRP7_uc002qig.4_Missense_Mutation_p.A419V|NLRP7_uc002qii.4_Missense_Mutation_p.A419V|NLRP7_uc010esl.3_Missense_Mutation_p.A447V NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 419 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GCCCTGCGCGGCCAGGAGGCT 0.701000 19 9 0 0 0.000673444 0 0 USP5 8078 broad.mit.edu 37 12 6972504 6972504 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:6972504A>T uc001qri.4 + 14 1976 c.1917A>T c.(1915-1917)gaA>gaT p.E639D USP5_uc001qrh.4_Intron NM_001098536 NP_001092006 P45974 UBP5_HUMAN Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA. 639 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 ACGAAGACGAAGACTCCTTCT 0.587000 60 27 0 0 0.00106085 0 0 C1orf173 127254 broad.mit.edu 37 1 75055760 75055760 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:75055760C>T uc001dgg.3 - 11 1950 c.1731G>A c.(1729-1731)atG>atA p.M577I CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.M371I NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 577 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 AAGCAGTTTTCATATCTACAA 0.353000 10 7 0 0 0.00198382 0 0 ASPA 443 broad.mit.edu 37 17 3397679 3397679 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:3397679A>G uc010ckg.3 + 5 761 c.670A>G c.(670-672)Aaa>Gaa p.K224E SPATA22_uc010vrg.2_Intron|ASPA_uc002fvq.3_Missense_Mutation_p.K224E NM_001128085 NP_001121557 P45381 ACY2_HUMAN Homo sapiens aspartoacylase (ASPA), transcript variant 2, mRNA. 224 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) TGAGGTCTATAAAATTATAGA 0.393000 106 107 0 0 0.00361006 0 0 OR6T1 219874 broad.mit.edu 37 11 123814011 123814011 + Missense_Mutation SNP G A A rs140103246 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:123814011G>A uc010sab.2 - 0 535 c.535C>T c.(535-537)Cgt>Tgt p.R179C NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA. 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R179C(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CAACTGTCACGAAAGAAGTGG 0.572000 20 15 0 0 0.00316338 0 0 P2RY13 53829 broad.mit.edu 37 3 151046404 151046404 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:151046404C>T uc003eyv.2 - 1 461 c.440G>A c.(439-441)aGa>aAa p.R147K MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron NM_176894 NP_795713 Q9BPV8 P2Y13_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 13 (P2RY13), mRNA. 147 integral to membrane|plasma membrane biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) TCTCAAAGGTCTGATGATCTT 0.383000 30 8 0 0 0.000274275 0 0 SPEG 10290 broad.mit.edu 37 2 220338538 220338538 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:220338538G>A uc010fwg.3 + 17 4360 c.4360G>A c.(4360-4362)Gtg>Atg p.V1454M NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 1454 Ig-like 7. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GATCTGCCGGGTGAGCCGCCG 0.662000 57 27 0 0 0.00209593 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802718 185802718 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:185802718C>T uc002uph.3 + 3 3189 c.2595C>T c.(2593-2595)atC>atT p.I865I NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 865 intracellular zinc ion binding p.I865I(2) 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 TTGCAAAAATCGAAAGGAACT 0.358000 50 20 0 0 0.00188189 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217236 150217236 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:150217236C>T uc003whk.3 + 1 304 c.174C>T c.(172-174)gaC>gaT p.D58D GIMAP7_uc022apu.1_Silent_p.D58D NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA. 58 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGGGAGAGACCTTCTTGTTG 0.527000 35 12 0 0 0.00136819 0 0 OR2J3 442186 broad.mit.edu 37 6 29080598 29080598 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:29080598G>A uc011dll.2 + 0 931 c.931G>A c.(931-933)Gaa>Aaa p.E311K NM_001005216 NP_001005216 O76001 OR2J3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA. 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W310C(1) endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 AATGGGGTGGGAATGAGCCTG 0.393000 34 11 0 0 0.00136819 0 0 OR10J3 441911 broad.mit.edu 37 1 159283508 159283508 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:159283508C>T uc010piu.2 - 0 942 c.942G>A c.(940-942)atG>atA p.M314I NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA. 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) AACCTCTCTTCATTAAGGAGA 0.413000 70 26 0 0 0.00127121 0 0 PTPRM 5797 broad.mit.edu 37 18 8370887 8370887 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:8370887G>A uc002knn.4 + 22 3519 c.3016_splice c.e22-1 p.V1006_splice PTPRM_uc010dkv.3_Splice_Site_p.V1019_splice|PTPRM_uc010wzl.2_Splice_Site_p.V793_splice NM_002845 NP_002836 P28827 PTPRM_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA. 1006 Tyrosine-protein phosphatase 1. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) GTTTTCTAAAGGTCAAATGCT 0.343000 42 22 0 0 0.00106085 0 0 OR11G2 390439 broad.mit.edu 37 14 20666088 20666088 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:20666088C>T uc010tlb.2 + 0 594 c.594C>T c.(592-594)atC>atT p.I198I NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA. 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) TGATTCCTATCGTCAACATCT 0.463000 21 12 0 0 0.000978159 0 0 FRAS1 80144 broad.mit.edu 37 4 79369463 79369463 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:79369463C>T uc003hlb.2 + 43 6707 c.6267C>T c.(6265-6267)ctC>ctT p.L2089L NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 2088 cell communication integral to membrane|plasma membrane metal ion binding p.L2089F(1) 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 GCCTACAGCTCTCAGCAGGTA 0.463000 3 4 0 0 0.00024832 0 0 APOL1 8542 broad.mit.edu 37 22 36661836 36661836 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:36661836G>A uc003ape.3 + 6 1276 c.1002G>A c.(1000-1002)gtG>gtA p.V334V APOL1_uc011amn.1_Silent_p.V195V|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Silent_p.V195V|APOL1_uc003apf.3_Silent_p.V318V|APOL1_uc011amp.2_Silent_p.V318V|APOL1_uc011amq.2_Silent_p.V300V|APOL1_uc010gwx.3_Silent_p.V195V NM_145343 NP_003652 O14791 APOL1_HUMAN Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA. 318 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 GTGAACAGGTGGAGAGGGTTA 0.557000 39 22 0 0 0.00188189 0 0 OR6C4 341418 broad.mit.edu 37 12 55945125 55945125 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:55945125G>A uc010spp.2 + 0 115 c.115G>A c.(115-117)Gga>Aga p.G39R NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA. 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 AAGTATCCTAGGAAATCTGAC 0.423000 110 46 0 0 0.00361006 0 0 CNTN3 5067 broad.mit.edu 37 3 74350890 74350890 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:74350890C>T uc003dpm.1 - 13 1933 c.1853G>A c.(1852-1854)tGg>tAg p.W618* NM_020872 NP_065923 Q9P232 CNTN3_HUMAN Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA. 618 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) ACCTTCTTTCCAAGAGAGTTG 0.453000 47 16 0 0 0.000958276 0 0 CEP192 55125 broad.mit.edu 37 18 13068116 13068116 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:13068116C>T uc010xac.2 + 22 4718 c.4638C>T c.(4636-4638)ttC>ttT p.F1546F CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Silent_p.F1071F|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR NM_032142 NP_115518 B7ZMF0 B7ZMF0_HUMAN Homo sapiens centrosomal protein 192kDa (CEP192), mRNA. 1141 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GGCGCTGTTTCACGTTTTCCA 0.463000 91 28 0 0 0.00127121 0 0 CNBD1 168975 broad.mit.edu 37 8 87951846 87951846 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:87951846G>A uc003ydy.2 + 3 343 c.295G>A c.(295-297)Gaa>Aaa p.E99K NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA. 99 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 AGGCAAAGAGGAAAGTCAACA 0.348000 94 38 0 0 0.00321405 0 0 C12orf77 196415 broad.mit.edu 37 12 25148921 25148921 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:25148921C>T uc001rgf.3 - 2 432 c.227G>A c.(226-228)cGa>cAa p.R76Q NM_001101339 NP_001094809 C9JDV5 CL097_HUMAN Homo sapiens chromosome 12 open reading frame 77 (C12orf77), mRNA. 76 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 AGGCATCCATCGTATGCTGTC 0.502000 20 5 0 0 0.000602214 0 0 SLC19A2 10560 broad.mit.edu 37 1 169439219 169439219 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:169439219G>A uc001gge.4 - 2 1217 c.1013C>T c.(1012-1014)gCc>gTc p.A338V SLC19A2_uc001ggf.4_Missense_Mutation_p.A137V NM_006996 NP_008927 O60779 S19A2_HUMAN Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA. 338 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) GGTTGAAACGGCCTCCACGCC 0.483000 66 38 0 0 0.00361006 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673292 141673292 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:141673292G>A uc003vwx.1 - 0 282 c.198C>T c.(196-198)ttC>ttT p.F66F NM_176817 NP_789787 P59533 T2R38_HUMAN Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA. 66 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) GTCCATGCAGGAAAAGCCGGC 0.493000 77 28 0 0 0.00106085 0 0 MYT1L 23040 broad.mit.edu 37 2 1893142 1893143 + Missense_Mutation DNP GG AT AT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:1893142_1893143GG>AT uc002qxe.3 - 15 3217_3218 c.2390_2391CC>AT c.(2389-2391)tcc>tAT p.S797Y MYT1L_uc002qxd.3_Missense_Mutation_p.S795Y|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 797 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GCTGCTGGGGGGACATGGGCTC 0.619000 27 17 0 0 6.4e-05 0 0 ROR2 4920 broad.mit.edu 37 9 94493352 94493352 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:94493352G>A uc004arj.2 - 6 1222 c.1023C>T c.(1021-1023)gcC>gcT p.A341A ROR2_uc004ari.1_Silent_p.A201A|ROR2_uc004ark.3_Silent_p.A341A NM_004560 NP_004551 Q01974 ROR2_HUMAN Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA. 341 Kringle. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGTGCTGCAGGGCCCACGGCT 0.627000 36 42 0 0 0.00321405 0 0 SERPINA5 5104 broad.mit.edu 37 14 95054319 95054319 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:95054319G>A uc001ydm.2 + 3 829 c.619_splice c.e3+1 p.A207_splice SERPINA5_uc010ave.2_Splice_Site_p.A207_splice NM_000624 NP_000615 P05154 IPSP_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA. 207 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TTCTTTAAAGGTAAGGCCCTT 0.438000 46 50 0 0 0.00361006 0 0 DLGAP2 9228 broad.mit.edu 37 8 1574988 1574988 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:1574988C>T uc003wpl.3 + 3 1382 c.1285C>T c.(1285-1287)Cgc>Tgc p.R429C DLGAP2_uc003wpm.3_Missense_Mutation_p.R429C NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA. 508 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCCGAAATTCCGCTCCCGGAA 0.617000 8 8 0 0 0.000442599 0 0 QARS 5859 broad.mit.edu 37 3 49138819 49138819 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:49138819T>C uc003cvx.3 - 9 850 c.845A>G c.(844-846)aAa>aGa p.K282R QARS_uc011bcc.2_5'Flank|QARS_uc011bcd.2_Missense_Mutation_p.K137R|QARS_uc003cvy.3_Missense_Mutation_p.K137R|QARS_uc011bce.2_Missense_Mutation_p.K271R|QARS_uc011bcf.1_Silent_p.Q253Q NM_005051 NP_005042 P47897 SYQ_HUMAN Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA. 282 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) ATTGATGGCTTTGGCATGTCC 0.473000 16 21 0 0 0.00332997 0 0 B3GNT4 79369 broad.mit.edu 37 12 122690864 122690865 + Splice_Site DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:122690864_122690865GG>AA uc001ubx.3 + 3 285 c.67_splice c.e3-1 p.G23_splice B3GNT4_uc001uby.3_Splice_Site NM_030765 NP_110392 Q9C0J1 B3GN4_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA. 23 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) TCTCCTTGCAGGGACCGGCGAT 0.663000 23 11 0 0 6.4e-05 0 0 BRD2 6046 broad.mit.edu 37 6 32947752 32947752 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32947752C>T uc010juh.3 + 10 3398 c.2094C>T c.(2092-2094)ggC>ggT p.G698G BRD2_uc003ocn.4_Silent_p.G663G|BRD2_uc003ocp.4_Silent_p.G543G|BRD2_uc003ocq.4_Silent_p.G663G|BRD2_uc021ywf.1_Silent_p.G616G NM_001199455 NP_001186384 P25440 BRD2_HUMAN Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA. 663 ET. spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 AGAAGCTGGGCCGAGTTGTGC 0.483000 43 9 0 0 0.000442599 0 0 RFX6 222546 broad.mit.edu 37 6 117252646 117252646 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:117252646G>A uc003pxm.3 + 18 2827 c.2764G>A c.(2764-2766)Gga>Aga p.G922R NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 922 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TGTGTTCATGGGAACAGCAGC 0.438000 23 13 0 0 0.00185496 0 0 SNRNP200 23020 broad.mit.edu 37 2 96956468 96956469 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:96956468_96956469GG>AA uc002svu.3 - 18 2638_2639 c.2506_2507CC>TT c.(2506-2508)cca>TTa p.P836L NM_014014 NP_054733 O75643 U520_HUMAN Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA. 836 Helicase C-terminal 1. U5 snRNP|catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 CCCCTTCTCTGGACTGTACACC 0.485000 68 36 0 0 6.4e-05 0 0 CSPG4 1464 broad.mit.edu 37 15 75981934 75981934 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:75981934C>T uc002baw.3 - 2 1565 c.1472G>A c.(1471-1473)cGa>cAa p.R491Q NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA. 491 Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GAACATTTTTCGTGCCTGGGC 0.637000 22 50 0 0 0.00361006 0 0 NBAS 51594 broad.mit.edu 37 2 15674761 15674761 + Nonsense_Mutation SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:15674761C>A uc002rcc.1 - 8 678 c.652G>T c.(652-654)Gga>Tga p.G218* NBAS_uc002rcd.1_Non-coding_Transcript NM_015909 NP_056993 A2RRP1 NBAS_HUMAN Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA. 218 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TGATTTGTTCCAACACTAAAT 0.343000 149 7 0.00198382 0.00617672 0.00198382 1 0 CLECL1 160365 broad.mit.edu 37 12 9885732 9885732 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:9885732C>T uc001qwi.3 - 0 164 c.129G>A c.(127-129)agG>agA p.R43R CLECL1_uc001qwj.3_Silent_p.R43R NM_001253750 NP_001240679 Q8IZS7 CLCL1_HUMAN Homo sapiens C-type lectin-like 1 (CLECL1), transcript variant 3, mRNA. 43 integral to membrane|plasma membrane sugar binding breast(1)|kidney(1)|large_intestine(4)|lung(3) 9 TGGCAAATTTCCTTCTGCTCC 0.388000 43 15 0 0 0.00316338 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726220 168726220 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:168726220G>A uc021vsc.1 + 0 671 c.671G>A c.(670-672)aGg>aAg p.R224K B3GALT1_uc002udz.1_Missense_Mutation_p.R224K NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA. 224 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity p.R224R(1) cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 TATATGCCCAGGGATTTGTAC 0.478000 43 20 0 0 0.00188189 0 0 MOGAT1 116255 broad.mit.edu 37 2 223553217 223553217 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:223553217C>T uc010fws.1 + 1 297 c.249C>T c.(247-249)caC>caT p.H83H MOGAT1_uc010fwt.1_Silent_p.H43H NM_058165 NP_477513 Q96PD6 MOGT1_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA. 83 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1) 9 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) TTTGGAAACACTTTAAGGACT 0.363000 17 10 0 0 0.000442599 0 0 PDS5A 23244 broad.mit.edu 37 4 39929623 39929623 + Silent SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:39929623G>T uc003guv.4 - 2 840 c.300C>A c.(298-300)atC>atA p.I100I PDS5A_uc003guw.4_Silent_p.I100I NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA. 100 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 CTGGGGCATAGATACGAAAGA 0.398000 19 7 1.06961e-07 3.36151e-07 0.00307968 1 0 GUCY1B3 2983 broad.mit.edu 37 4 156716575 156716575 + Missense_Mutation SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:156716575C>A uc003ipc.3 + 6 976 c.809C>A c.(808-810)tCt>tAt p.S270Y GUCY1B3_uc011cio.2_Missense_Mutation_p.S292Y|GUCY1B3_uc011cip.2_Missense_Mutation_p.S250Y|GUCY1B3_uc003ipd.3_Missense_Mutation_p.S198Y|GUCY1B3_uc010iqf.3_Missense_Mutation_p.S270Y|GUCY1B3_uc010iqg.3_Missense_Mutation_p.S198Y|GUCY1B3_uc011ciq.2_Missense_Mutation_p.S198Y NM_000857 NP_000848 Q02153 GCYB1_HUMAN Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA. 270 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) GGGATCCTTTCTCACATCAAT 0.378000 53 33 9.65963e-10 3.04225e-09 0.00327116 1 0 PCDHGC5 56097 broad.mit.edu 37 5 140740672 140740672 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140740672C>T uc003ljs.2 + 0 970 c.970C>T c.(970-972)Cct>Tct p.P324S PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.P324S NM_018923 NP_061746 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA. 325 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCAAAAGATCCTGGAGATCT 0.393000 21 9 0 0 0.000673444 0 0 C6orf221 154288 broad.mit.edu 37 6 74073510 74073510 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:74073510C>T uc003pgt.4 + 2 634 c.581C>T c.(580-582)tCc>tTc p.S194F NM_001017361 NP_001017361 Q587J8 ECAT1_HUMAN Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA. 194 NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1) 19 ACCCAGCGATCCCCCGAAGCT 0.642000 19 10 0 0 0.00136819 0 0 DAPK2 23604 broad.mit.edu 37 15 64222634 64222634 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:64222634C>T uc002amr.3 - 5 635 c.604G>A c.(604-606)Gag>Aag p.E202K DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Missense_Mutation_p.E192K NM_014326 NP_055141 Q9UIK4 DAPK2_HUMAN Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA. 202 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) CCCAGGGGCTCGTAGTTCACA 0.478000 44 52 0 0 0.00361006 0 0 OR9A2 135924 broad.mit.edu 37 7 142723739 142723739 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:142723739G>A uc003wcc.1 - 0 481 c.481C>T c.(481-483)Cag>Tag p.Q161* NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA. 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) AAGGTAAACTGAAATGTGGCA 0.403000 48 24 0 0 0.00229938 0 0 DRD2 1813 broad.mit.edu 37 11 113286233 113286233 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:113286233C>T uc001pnz.3 - 3 954 c.633G>A c.(631-633)aaG>aaA p.K211K DRD2_uc010rwv.2_Silent_p.K210K|DRD2_uc001poa.4_Silent_p.K211K|DRD2_uc001pob.4_Silent_p.K211K|DRD2_uc009yyr.1_Silent_p.K211K NM_000795 NP_000786 P14416 DRD2_HUMAN Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA. 211 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CAATGTAGATCTTGATGTAGA 0.562000 28 25 0 0 0.00395357 0 0 RAD23A 5886 broad.mit.edu 37 19 13058990 13058990 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:13058990G>A uc002mvw.1 + 3 344 c.235_splice c.e3-1 p.T79_splice RAD23A_uc002mvz.1_Splice_Site_p.T79_splice|RAD23A_uc010xmw.1_Splice_Site NM_005053 NP_005044 P54725 RD23A_HUMAN Homo sapiens RAD23 homolog A (S. cerevisiae) (RAD23A), mRNA. 79 Ubiquitin-like. interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 TGCTGTTGCAGACCAAAGCCG 0.622000 Nucleotide excision repair (NER) 28 13 0 0 0.00244969 0 0 KCNAB1 7881 broad.mit.edu 37 3 156249266 156249266 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:156249266G>A uc003far.2 + 12 1214 c.1150G>A c.(1150-1152)Gaa>Aaa p.E384K KCNAB1_uc011bon.1_Missense_Mutation_p.E355K|KCNAB1_uc003fas.2_Missense_Mutation_p.E373K|KCNAB1_uc003fat.2_Missense_Mutation_p.E366K|KCNAB1_uc010hvt.1_Missense_Mutation_p.E337K|KCNAB1_uc011boo.1_Missense_Mutation_p.E260K NM_172160 NP_751892 Q14722 KCAB1_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA. 384 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity p.E384D(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) ACAACTCATTGAAAACCTTGG 0.512000 73 32 0 0 0.00327116 0 0 YSK4 80122 broad.mit.edu 37 2 135741363 135741363 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:135741363C>T uc002tue.1 - 7 3136 c.3105G>A c.(3103-3105)agG>agA p.R1035R YSK4_uc002tuf.1_Silent_p.R217R|YSK4_uc010fnc.1_Silent_p.R217R|YSK4_uc010fnd.1_Silent_p.R922R|YSK4_uc010zbg.1_Intron|YSK4_uc021vpz.1_5'Flank|YSK4_uc002tuh.4_Silent_p.R763R|YSK4_uc002tui.4_Silent_p.R1052R NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA. 1035 ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(221;0.112) ATTTCTCCTCCCTGTCATATA 0.398000 51 21 0 0 0.00332997 0 0 ANKRD12 23253 broad.mit.edu 37 18 9255997 9255997 + Missense_Mutation SNP A C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:9255997A>C uc002knv.3 + 8 2996 c.2732A>C c.(2731-2733)cAt>cCt p.H911P ANKRD12_uc002knw.3_Missense_Mutation_p.H888P|ANKRD12_uc002knx.3_Missense_Mutation_p.H888P|ANKRD12_uc010dkx.1_Missense_Mutation_p.H618P NM_015208 NP_056023 Q6UB98 ANR12_HUMAN Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA. 911 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 GATAGGAAACATGACAAAGAA 0.338000 7 3 0 0 0.00024832 0 0 RHOT1 55288 broad.mit.edu 37 17 30527974 30527974 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:30527974G>A uc002hgw.3 + 14 1340 c.1101_splice c.e14-1 p.T367_splice RHOT1_uc002hgy.3_Splice_Site_p.T367_splice|RHOT1_uc002hgz.3_Splice_Site_p.T367_splice|RHOT1_uc002hha.3_Splice_Site_p.T240_splice|RHOT1_uc010csv.3_Splice_Site|RHOT1_uc002hgx.3_Splice_Site_p.T240_splice|RHOT1_uc010wby.2_Splice_Site_p.T367_splice|RHOT1_uc002hhb.3_Splice_Site_p.T346_splice|RHOT1_uc002hgv.3_Splice_Site_p.T367_splice NM_001033568 NP_001028740 Q8IXI2 MIRO1_HUMAN Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA. 367 apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane GTP binding|GTPase activity|calcium ion binding|protein binding NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) TTCTTTCATAGGCTCACGACT 0.363000 52 43 0 0 0.00285205 0 0 MED12L 116931 broad.mit.edu 37 3 151105774 151105774 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:151105774C>T uc003eyp.3 + 34 5289 c.5160C>T c.(5158-5160)ccC>ccT p.P1720P MED12L_uc011bnz.2_Silent_p.P1580P|MED12L_uc003eyy.1_Silent_p.P883P NM_053002 NP_443728 Q86YW9 MD12L_HUMAN Homo sapiens mediator complex subunit 12-like (MED12L), mRNA. 1720 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGCCCAAGCCCCGCAGTTACT 0.587000 22 8 0 0 0.00307968 0 0 MYH11 4629 broad.mit.edu 37 16 15841453 15841453 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:15841453C>T uc002ddx.3 - 19 2513 c.2406G>A c.(2404-2406)gcG>gcA p.A802A MYH11_uc002ddv.3_Silent_p.A802A|MYH11_uc002ddw.3_Silent_p.A795A|MYH11_uc002ddy.3_Silent_p.A795A|MYH11_uc010bvg.3_Silent_p.A627A NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 795 IQ. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle p.A802S(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CACGACACATCGCCTGGAAGG 0.512000 T CBFB AML 62 28 0 0 0.00327116 0 0 MAEL 84944 broad.mit.edu 37 1 166959042 166959043 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:166959042_166959043GG>AA uc001gdy.1 + 1 272_273 c.201_202GG>AA c.(199-204)aaggac>aaAAac p.D68N MAEL_uc021peh.1_Missense_Mutation_p.D12N|MAEL_uc001gdz.1_Intron|MAEL_uc009wvf.1_5'Flank NM_032858 NP_116247 Q96JY0 MAEL_HUMAN Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA. 68 DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 CTCAGGGAAAGGACCCTGGGCC 0.500000 37 11 0 0 6.4e-05 0 0 C7orf58 79974 broad.mit.edu 37 7 120884392 120884392 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:120884392G>A uc003vjq.4 + 18 2757 c.2310_splice c.e18+1 p.K770_splice C7orf58_uc003vjs.4_Splice_Site_p.K770_splice|C7orf58_uc003vjt.4_Splice_Site_p.K550_splice NM_024913 NP_079189 A4D0V7 CG058_HUMAN Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA. 770 endoplasmic reticulum breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 66 all_neural(327;0.117) GAGGAAGGAAGGTAGGTTCTG 0.478000 39 12 0 0 0.00185496 0 0 TLE4 7091 broad.mit.edu 37 9 82322050 82322050 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:82322050G>A uc004ald.3 + 11 1777 c.928G>A c.(928-930)Ggg>Agg p.G310R TLE4_uc004alc.3_Intron|TLE4_uc010mpr.3_Intron|TLE4_uc004ale.3_Intron|TLE4_uc011lsq.2_Intron|TLE4_uc010mps.3_Intron|TLE4_uc004alf.3_Intron NM_007005 NP_008936 O60756 BCE1_HUMAN Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA. 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 GAGGGATATGGGGAAATTGAG 0.368000 99 80 0 0 0.00361006 0 0 TPTE 7179 broad.mit.edu 37 21 10934955 10934955 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:10934955G>A uc002yip.1 - 14 1206 c.838C>T c.(838-840)Cga>Tga p.R280* TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.R262*|TPTE_uc002yir.1_Nonsense_Mutation_p.R242*|TPTE_uc010gkv.1_Nonsense_Mutation_p.R142* NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 280 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R262*(2)|p.R280M(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) TTGTAGACTCGATAGTGGTTT 0.333000 156 15 0 0 0.000958276 0 0 HTT 3064 broad.mit.edu 37 4 3230432 3230432 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:3230432C>T uc021xkv.1 + 57 8084 c.7939C>T c.(7939-7941)Cct>Tct p.P2647S NM_002111 NP_002102 P42858 HD_HUMAN Homo sapiens huntingtin (HTT), mRNA. 2647 Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) ggCCGACGCCCCTGCACCTTC 0.517000 25 7 0 0 0.00307968 0 0 MB21D2 151963 broad.mit.edu 37 3 192516332 192516332 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:192516332G>A uc011bsp.2 - 1 1640 c.1319C>T c.(1318-1320)cCa>cTa p.P440L NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA. 440 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 GTCAGACTGTGGAGAGGGGAT 0.582000 62 27 0 0 0.00209593 0 0 PRKDC 5591 broad.mit.edu 37 8 48751729 48751729 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:48751729G>A uc003xqi.3 - 56 7587 c.7530C>T c.(7528-7530)atC>atT p.I2510I PRKDC_uc003xqj.3_Silent_p.I2510I NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 2511 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GGTTCTCATCGATCAATCCTT 0.388000 Non-homologous end-joining 27 16 0 0 0.00152264 0 0 CIC 23152 broad.mit.edu 37 19 42794781 42794781 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:42794781C>T uc002otf.1 + 9 1901 c.1861C>T c.(1861-1863)Ccc>Tcc p.P621S NM_015125 NP_055940 Q96RK0 CIC_HUMAN Homo sapiens capicua homolog (Drosophila) (CIC), mRNA. 621 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.P621L(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CGCGGCCCCTCCCAGCGGAGG 0.672000 """Mis, F, S""" oligodendroglioma 43 32 0 0 0.0024448 0 0 ATP13A5 344905 broad.mit.edu 37 3 193031955 193031955 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:193031955A>G uc011bsq.2 - 18 2186 c.2186T>C c.(2185-2187)gTt>gCt p.V729A NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 729 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ATTCTTTGCAACAGTAATGGC 0.463000 73 18 0 0 0.000958276 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100004369 100004369 + Missense_Mutation SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:100004369G>T uc003uut.3 - 11 1366 c.1118C>A c.(1117-1119)cCa>cAa p.P373Q ZCWPW1_uc011kjq.2_Missense_Mutation_p.P253Q|ZCWPW1_uc003uur.3_Missense_Mutation_p.P253Q|ZCWPW1_uc003uus.3_Missense_Mutation_p.P253Q|ZCWPW1_uc011kjr.2_Missense_Mutation_p.P373Q|ZCWPW1_uc003uuu.1_Missense_Mutation_p.P374Q|ZCWPW1_uc011kjp.2_Non-coding_Transcript NM_017984 NP_060454 Q9H0M4 ZCPW1_HUMAN Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA. 373 PWWP. zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CATGTTGACTGGGATCCATGC 0.448000 60 20 1.50039e-11 4.72944e-11 0.00188189 1 0 ABCA3 21 broad.mit.edu 37 16 2331480 2331480 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:2331480G>A uc002cpy.1 - 26 4778 c.4066C>T c.(4066-4068)Cct>Tct p.P1356S ABCA3_uc010bsk.1_Missense_Mutation_p.P1298S NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 1356 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) TGGTCCTCAGGAAGCACAGGC 0.597000 20 15 0 0 0.000566183 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140926 143140926 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:143140926C>T uc011ktg.2 + 0 381 c.381C>T c.(379-381)caC>caT p.H127H LOC285965_uc003wda.3_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA. 127 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) CCTTCACCCACCCTGTCTTCT 0.483000 126 59 0 0 0.00361006 0 0 PLCE1 51196 broad.mit.edu 37 10 96084175 96084175 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:96084175G>A uc001kjk.3 + 30 7205 c.6571G>A c.(6571-6573)Gaa>Aaa p.E2191K PLCE1_uc010qnx.2_Missense_Mutation_p.E2175K|PLCE1_uc001kjm.3_Missense_Mutation_p.E1883K|PLCE1_uc001kjp.3_Missense_Mutation_p.E549K NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 2191 Ras-associating 2. Ras protein signal transduction|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|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction Golgi membrane|cytosol|membrane fraction|plasma membrane Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TGTGCTTTTGGAAGAGGTGGT 0.448000 79 69 0 0 0.00361006 0 0 CREBBP 1387 broad.mit.edu 37 16 3779649 3779649 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:3779649C>T uc002cvv.3 - 30 5603 c.5399G>A c.(5398-5400)cGg>cAg p.R1800Q CREBBP_uc002cvw.3_Missense_Mutation_p.R1762Q NM_004380 NP_004371 Q92793 CBP_HUMAN Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA. 1800 Interaction with TRERF1. N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia cytoplasm|nuclear body MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CTGCACCACCCGCTTCATCTT 0.652000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 30 19 0 0 0.00074312 0 0 METTL2B 55798 broad.mit.edu 37 7 128119245 128119245 + Missense_Mutation SNP A C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:128119245A>C uc003vnf.3 + 2 273 c.236A>C c.(235-237)aAt>aCt p.N79T METTL2B_uc003vng.3_Missense_Mutation_p.N14T|METTL2B_uc011kop.2_5'UTR NM_018396 NP_060866 Q6P1Q9 MTL2B_HUMAN Homo sapiens methyltransferase like 2B (METTL2B), mRNA. 79 methyltransferase activity breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 AAATACTGGAATGACTTCTAC 0.323000 27 12 0 0 0.00074312 0 0 NAT16 375607 broad.mit.edu 37 7 100815612 100815612 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:100815612G>A uc003uxy.2 - 3 1097 c.858C>T c.(856-858)atC>atT p.I286I NAT16_uc003uxz.2_Silent_p.I286I NM_198571 NP_940973 Q8N8M0 CG052_HUMAN Homo sapiens N-acetyltransferase 16 (GCN5-related, putative) (NAT16), mRNA. 286 N-acetyltransferase activity CTCCGTGCGGGATGGGGAAGG 0.716000 9 5 0 0 0.000602214 0 0 FAM26E 254228 broad.mit.edu 37 6 116836900 116836900 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:116836900G>A uc003pwy.3 + 1 730 c.678G>A c.(676-678)ttG>ttA p.L226L BET3L_uc011ebh.2_Intron NM_153711 NP_714922 Q8N5C1 FA26E_HUMAN Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA. 226 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212) AGGAGCAGTTGGAAAATACAT 0.438000 56 33 0 0 0.000953801 0 0 RRN3 54700 broad.mit.edu 37 16 15179506 15179506 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:15179506A>T uc002dde.3 - 5 590 c.522T>A c.(520-522)gaT>gaA p.D174E PDXDC1_uc002ddc.3_Intron|RRN3_uc010uzp.2_Missense_Mutation_p.D75E|RRN3_uc010uzq.2_Missense_Mutation_p.D144E|RRN3_uc002ddf.1_Missense_Mutation_p.D174E NM_018427 NP_060897 Q9NYV6 RRN3_HUMAN Homo sapiens RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) (RRN3), mRNA. 174 regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2) 20 TATCATCTTCATCATCAGAAT 0.403000 17 12 0 0 0.00185496 0 0 SLC17A8 246213 broad.mit.edu 37 12 100813746 100813746 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:100813746G>A uc010svi.2 + 11 1892 c.1579G>A c.(1579-1581)Gaa>Aaa p.E527K SLC17A8_uc009ztx.3_Missense_Mutation_p.E477K NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA. 527 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TGACCAGGACGAATTAGCTGA 0.468000 23 10 0 0 0.000442599 0 0 HTRA1 5654 broad.mit.edu 37 10 124271522 124271522 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:124271522C>T uc001lgj.2 + 7 1343 c.1215C>T c.(1213-1215)ttC>ttT p.F405F NM_002775 NP_002766 Q92743 HTRA1_HUMAN Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA. 405 PDZ. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) ACCGGGACTTCCCAGACGTGA 0.483000 26 23 0 0 0.00106085 0 0 CELSR1 9620 broad.mit.edu 37 22 46780573 46780573 + Silent SNP G A A rs147996421 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:46780573G>A uc003bhw.1 - 19 6750 c.6750C>T c.(6748-6750)gtC>gtT p.V2250V CELSR1_uc011arc.1_Silent_p.V571V NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA. 2250 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CAAAGATGTCGACAGCAAGAA 0.517000 42 17 0 0 0.00188189 0 0 BIN3 55909 broad.mit.edu 37 8 22481737 22481737 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:22481737G>A uc003xcl.3 - 6 575 c.478C>T c.(478-480)Cag>Tag p.Q160* BIN3_uc010ltw.3_Nonsense_Mutation_p.Q106* NM_018688 NP_061158 Q9NQY0 BIN3_HUMAN Homo sapiens bridging integrator 3 (BIN3), mRNA. 160 BAR. actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth cytoplasm|cytoskeleton cytoskeletal adaptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 9 Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143) BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) CCTGGTACCTGGTGGAGCTTG 0.627000 24 10 0 0 0.00136819 0 0 RBFOX1 54715 broad.mit.edu 37 16 7645595 7645595 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:7645595G>A uc002cys.2 + 7 1501 c.513G>A c.(511-513)agG>agA p.R171R RBFOX1_uc010buf.1_Silent_p.R171R|RBFOX1_uc002cyr.1_Silent_p.R170R|RBFOX1_uc002cyt.2_Silent_p.R171R|RBFOX1_uc010uxz.1_Silent_p.R214R|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Silent_p.R171R|RBFOX1_uc010uyb.1_Silent_p.R171R|RBFOX1_uc002cyw.2_Silent_p.R191R|RBFOX1_uc002cyy.2_Silent_p.R191R|RBFOX1_uc002cyx.2_Silent_p.R191R|RBFOX1_uc010uyc.1_Silent_p.R191R NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA. 171 RRM. RNA splicing|RNA transport|mRNA processing nucleus|trans-Golgi network RNA binding|nucleotide binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 ATGCGGACAGGGCGAGGGAGA 0.428000 88 24 0 0 0.00127121 0 0 CFLAR 8837 broad.mit.edu 37 2 201994671 201994671 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:201994671T>C uc002uxb.4 + 1 548 c.83T>C c.(82-84)gTt>gCt p.V28A CFLAR_uc002uwy.3_Missense_Mutation_p.V28A|CFLAR_uc002uwz.3_Missense_Mutation_p.V28A|CFLAR_uc010zhk.2_Intron|CFLAR_uc010zhl.2_Intron|CFLAR_uc002uxc.4_Missense_Mutation_p.V28A|CFLAR_uc010fsw.2_Non-coding_Transcript|CFLAR_uc002uxd.4_Missense_Mutation_p.V28A|CFLAR_uc002uxe.2_Missense_Mutation_p.V28A|CFLAR_uc021vuw.1_Missense_Mutation_p.V28A|CFLAR_uc010fsx.3_Missense_Mutation_p.V28A|CFLAR_uc010fsy.3_Non-coding_Transcript|CFLAR_uc002uxf.3_Missense_Mutation_p.V28A NM_003879 NP_001189446 O15519 CFLAR_HUMAN Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), transcript variant 1, mRNA. 28 DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 TGCCGGGATGTTGCTATAGAT 0.473000 103 60 0 0 0.00361006 0 0 PRRC2B 84726 broad.mit.edu 37 9 134366900 134366900 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:134366900C>T uc004can.4 + 27 6369 c.6314C>T c.(6313-6315)tCc>tTc p.S2105F PRRC2B_uc004cao.4_Missense_Mutation_p.S1462F|PRRC2B_uc004cap.4_Missense_Mutation_p.S251F|PRRC2B_uc011mch.2_Missense_Mutation_p.S28F NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA. 2105 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CAGAGCCTCTCCGTTGGGGCC 0.672000 31 8 0 0 0.00307968 0 0 PPP6R2 9701 broad.mit.edu 37 22 50869685 50869685 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:50869685C>T uc003blb.2 + 11 1631 c.1209C>T c.(1207-1209)gcC>gcT p.A403A PPP6R2_uc003blc.3_Silent_p.A403A|PPP6R2_uc003bky.2_Silent_p.A403A|PPP6R2_uc003bla.2_Silent_p.A404A|PPP6R2_uc003bkz.2_Silent_p.A403A|PPP6R2_uc003bld.2_5'UTR NM_001242898 NP_001229827 O75170 PP6R2_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA. 403 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CCCACGCTGCCCGTGAGGAGA 0.577000 64 39 0 0 0.00195071 0 0 CLIP2 7461 broad.mit.edu 37 7 73752881 73752881 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:73752881C>T uc003uam.3 + 2 552 c.225C>T c.(223-225)ttC>ttT p.F75F CLIP2_uc003uan.3_Silent_p.F75F NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA. 75 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 GGGATGACTTCCTGGGGGACT 0.682000 6 3 0 0 6.4e-05 0 0 DSP 1832 broad.mit.edu 37 6 7583417 7583417 + Missense_Mutation SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:7583417G>T uc003mxp.1 + 23 6201 c.5922G>T c.(5920-5922)aaG>aaT p.K1974N DSP_uc003mxq.1_Missense_Mutation_p.K1375N|DSP_uc021yle.1_Missense_Mutation_p.K1531N NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1974 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGAGGAAGAAGGTGACAGCAA 0.498000 53 18 6.33239e-15 1.99776e-14 0.00152264 1 0 MUC21 394263 broad.mit.edu 37 6 30955265 30955265 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:30955265C>T uc003nsh.2 + 1 1564 c.1313C>T c.(1312-1314)tCt>tTt p.S438F MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.S422F NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN Homo sapiens mucin 21, cell surface associated (MUC21), mRNA. 438 Ser-rich. 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 GCCACCAACTCTGGGTCCAGT 0.577000 70 15 0 0 0.00400662 0 0 LGSN 51557 broad.mit.edu 37 6 63990433 63990433 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:63990433C>T uc003peh.3 - 3 1057 c.1023G>A c.(1021-1023)ggG>ggA p.G341G LGSN_uc003pei.3_Missense_Mutation_p.G201E NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA. 341 glutamine biosynthetic process glutamate-ammonia ligase activity p.G341G(2) NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) ACCATTTTTTCCCAGTGATCG 0.488000 77 25 0 0 0.00106085 0 0 PKHD1 5314 broad.mit.edu 37 6 51941127 51941127 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:51941127G>A uc003pah.1 - 5 671 c.395C>T c.(394-396)tCc>tTc p.S132F PKHD1_uc003pai.3_Missense_Mutation_p.S132F NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 132 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CTGCGCCTTGGAAAACTGTTT 0.393000 29 15 0 0 0.00074312 0 0 KIAA1462 57608 broad.mit.edu 37 10 30336469 30336469 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:30336469C>T uc009xle.2 - 1 410 c.273G>A c.(271-273)tcG>tcA p.S91S KIAA1462_uc001iux.3_Silent_p.S91S|KIAA1462_uc001iuy.3_Silent_p.S91S|KIAA1462_uc001iuz.3_5'UTR NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 91 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACCCCGCCTCCGAGGTTCTGG 0.552000 31 13 0 0 0.00316338 0 0 EPHA5 2044 broad.mit.edu 37 4 66467698 66467698 + Missense_Mutation SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:66467698G>T uc003hcy.3 - 2 764 c.571C>A c.(571-573)Cgt>Agt p.R191S EPHA5_uc003hcx.3_Missense_Mutation_p.R122S|EPHA5_uc003hcz.3_Missense_Mutation_p.R191S|EPHA5_uc011cah.2_Missense_Mutation_p.R191S|EPHA5_uc011cai.2_Missense_Mutation_p.R191S|EPHA5_uc003hda.2_Missense_Mutation_p.R191S NM_004439 NP_004430 P54756 EPHA5_HUMAN Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA. 191 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TTCATAACACGGTCACCAAGA 0.398000 TSP Lung(17;0.13) 108 7 0.00307968 0.00956451 0.00307968 1 0 ZDHHC6 64429 broad.mit.edu 37 10 114200408 114200408 + Silent SNP G T T rs112381350 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:114200408G>T uc001kzv.3 - 4 989 c.565C>A c.(565-567)Cgg>Agg p.R189R ZDHHC6_uc001kzw.3_Silent_p.R185R|ZDHHC6_uc009xya.1_Silent_p.R189R NM_022494 NP_071939 Q9H6R6 ZDHC6_HUMAN Homo sapiens zinc finger, DHHC-type containing 6 (ZDHHC6), mRNA. 189 integral to membrane acyltransferase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) GGATCTCTCCGGGCTGCACTC 0.463000 51 31 4.65686e-17 1.47105e-16 0.00375469 1 0 NCKAP1L 3071 broad.mit.edu 37 12 54913090 54913090 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:54913090G>A uc001sgc.4 + 15 1678 c.1599G>A c.(1597-1599)gtG>gtA p.V533V NCKAP1L_uc010sox.2_Silent_p.V75V|NCKAP1L_uc010soy.2_Silent_p.V483V NM_005337 NP_005328 P55160 NCKPL_HUMAN Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA. 533 B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug SCAR complex|cytosol|integral to plasma membrane|membrane fraction Rac GTPase activator activity|protein complex binding|protein kinase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 AATTGCTGGTGGAAACTTCTG 0.428000 67 34 0 0 0.00170553 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144874726 144874726 + Nonsense_Mutation SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:144874726C>A uc021ouh.1 - 29 5184 c.4882G>T c.(4882-4884)Gag>Tag p.E1628* NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Nonsense_Mutation_p.E1628*|PDE4DIP_uc001elx.4_Nonsense_Mutation_p.E1584*|PDE4DIP_uc001elv.4_Nonsense_Mutation_p.E635* NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 1628 NBPF. cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding p.E1628*(3) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGTGTGTACTCGCTGACTATG 0.527000 T PDGFRB MPD 382 12 0.000308642 0.000966685 0.00316338 1 0 LEP 3952 broad.mit.edu 37 7 127894690 127894690 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:127894690G>A uc003vml.2 + 2 435 c.378G>A c.(376-378)gaG>gaA p.E126E LEP_uc003vmm.2_Silent_p.E125E NM_000230 NP_000221 P41159 LEP_HUMAN Homo sapiens leptin (LEP), mRNA. 126 adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth extracellular space endometrium(1)|large_intestine(2)|lung(5) 8 GTGGCCTGGAGACCTTGGACA 0.607000 37 9 0 0 0.000274275 0 0 RGS3 5998 broad.mit.edu 37 9 116269582 116269582 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:116269582G>A uc004bhq.3 + 13 1310 c.1101G>A c.(1099-1101)gaG>gaA p.E367E RGS3_uc004bhr.3_Silent_p.E255E|RGS3_uc004bhs.3_Silent_p.E257E|RGS3_uc004bht.3_Silent_p.E86E|RGS3_uc010muy.3_Silent_p.E86E|RGS3_uc004bhu.3_5'UTR NM_144488 NP_652759 P49796 RGS3_HUMAN Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA. 367 PDZ. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 GCCCCAGTGAGATCATCCTAC 0.627000 37 13 0 0 0.00316338 0 0 HCRTR2 3062 broad.mit.edu 37 6 55128507 55128507 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:55128507G>A uc003pcl.3 + 3 964 c.649G>A c.(649-651)Gaa>Aaa p.E217K HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.E152K NM_001526 NP_001517 O43614 OX2R_HUMAN Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA. 217 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CATCCTAGGTGAAATTTATCC 0.358000 19 7 0 0 0.000274275 0 0 DNAH3 55567 broad.mit.edu 37 16 21115824 21115824 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:21115824C>T uc010vbe.2 - 15 2334 c.2334G>A c.(2332-2334)aaG>aaA p.K778K DNAH3_uc002die.2_Silent_p.K732K NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 778 Stem (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) CCTGATCCCTCTTGTGAAGGA 0.473000 141 55 0 0 0.00361006 0 0 DNAH8 1769 broad.mit.edu 37 6 38757653 38757653 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:38757653G>A uc021yzh.1 + 18 2767 c.2658G>A c.(2656-2658)atG>atA p.M886I DNAH8_uc003ooe.2_Missense_Mutation_p.M669I NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. 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 CCCCAAAAATGAAAAAGGTTG 0.338000 57 17 0 0 0.00121646 0 0 CCDC138 165055 broad.mit.edu 37 2 109421374 109421374 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:109421374C>T uc002ten.1 + 6 825 c.765C>T c.(763-765)acC>acT p.T255T CCDC138_uc002teo.1_Silent_p.T255T|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR NM_144978 NP_659415 Q96M89 CC138_HUMAN Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA. 255 p.T255T(2) endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 AACACTTAACCGAAGTTCTTA 0.353000 83 32 0 0 0.00283554 0 0 SALL3 27164 broad.mit.edu 37 18 76752138 76752138 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:76752138G>A uc002lmt.3 + 1 147 c.147G>A c.(145-147)gaG>gaA p.E49E SALL3_uc010dra.3_5'Flank NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 49 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) GGGGCGAGGAGACCAGCGTGT 0.692000 5 3 0 0 6.4e-05 0 0 OR14J1 442191 broad.mit.edu 37 6 29275144 29275144 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:29275144C>T uc011dln.2 + 0 678 c.678C>T c.(676-678)atC>atT p.I226I NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA. 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 TGCTGAGAATCCCATCAGCTG 0.488000 166 43 0 0 0.00285205 0 0 MYH1 4619 broad.mit.edu 37 17 10408571 10408571 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10408571C>T uc002gmo.3 - 20 2438 c.2344G>A c.(2344-2346)Gat>Aat p.D782N AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 782 Myosin head-like. muscle myosin complex|myofibril|myosin filament ATP binding|actin 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 AGCTTCTCATCTCGCATCTCC 0.458000 21 17 0 0 0.00074312 0 0 MUC16 94025 broad.mit.edu 37 19 9046066 9046066 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9046066C>T uc002mkp.3 - 4 35769 c.35565G>A c.(35563-35565)ggG>ggA p.G11855G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11857 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 TGGTTTCTGTCCCTGGATGGG 0.488000 66 31 0 0 0.00209593 0 0 FAM57B 83723 broad.mit.edu 37 16 30038064 30038064 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:30038064C>T uc002dvt.3 - 2 648 c.310G>A c.(310-312)Ggg>Agg p.G104R BOLA2_uc010bzb.1_Intron NM_031478 NP_113666 Q71RH2 FA57B_HUMAN Homo sapiens family with sequence similarity 57, member B (FAM57B), mRNA. 104 TLC. endoplasmic reticulum|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 CCTCCATGCCCTTTGACCTGG 0.602000 26 9 0 0 0.000442599 0 0 IGDCC3 9543 broad.mit.edu 37 15 65628177 65628177 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:65628177C>T uc002aos.2 - 2 779 c.527G>A c.(526-528)aGa>aAa p.R176K NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA. 176 Ig-like C2-type 2. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AATTGGGACTCTGTTCTTCTC 0.587000 35 66 0 0 0.00361006 0 0 DNAH11 8701 broad.mit.edu 37 7 21827025 21827025 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:21827025G>A uc003svc.3 + 60 9800 c.9769G>A c.(9769-9771)Gat>Aat p.D3257N NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 3257 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GCAGGTTGATGATTTTTTGCA 0.343000 Kartagener syndrome 49 15 0 0 0.00152264 0 0 FAM160B1 57700 broad.mit.edu 37 10 116606378 116606378 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:116606378C>T uc001lcb.3 + 10 1794 c.1459C>T c.(1459-1461)Ctt>Ttt p.L487F FAM160B1_uc001lcc.3_Missense_Mutation_p.L487F NM_020940 NP_065991 Q5W0V3 F16B1_HUMAN Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA. 487 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 TGAGCACATTCTTTACAACTT 0.308000 19 21 0 0 0.00152264 0 0 CDC25A 993 broad.mit.edu 37 3 48219374 48219374 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:48219374G>A uc003csh.1 - 6 1018 c.654C>T c.(652-654)ttC>ttT p.F218F CDC25A_uc003csi.1_Silent_p.F178F|CDC25A_uc021wxk.1_Silent_p.F177F NM_001789 NP_001780 P30304 MPIP1_HUMAN Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA. 218 DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity p.F218F(2)|p.F218I(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) GAAGGTCCACGAAGCCATCAT 0.448000 75 67 0 0 0.00361006 0 0 RSPH3 83861 broad.mit.edu 37 6 159398662 159398662 + Missense_Mutation SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:159398662G>T uc003qrx.3 - 7 1781 c.1591C>A c.(1591-1593)Cag>Aag p.Q531K RSPH3_uc010kju.3_Missense_Mutation_p.Q435K NM_031924 NP_114130 Q86UC2 RSPH3_HUMAN Homo sapiens radial spoke 3 homolog (Chlamydomonas) (RSPH3), mRNA. 531 p.Q531K(2) endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) TTCCTTTCCTGGGATGACCTT 0.473000 208 8 0.000157383 0.000493143 0.00307968 1 0 ELTD1 64123 broad.mit.edu 37 1 79403547 79403547 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:79403547C>T uc001diq.4 - 5 861 c.705G>A c.(703-705)agG>agA p.R235R NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 235 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TCTGGGATATCCTTAAAGTAG 0.353000 177 63 0 0 0.00361006 0 0 USO1 8615 broad.mit.edu 37 4 76714941 76714941 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:76714941G>A uc003hiu.3 + 11 1361 c.1186G>A c.(1186-1188)Gcg>Acg p.A396T USO1_uc003hiv.3_Missense_Mutation_p.A282T|USO1_uc003hiw.3_Missense_Mutation_p.A282T NM_003715 NP_003706 O60763 USO1_HUMAN Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA. 447 Globular head. intracellular protein transport|vesicle fusion with Golgi apparatus Golgi membrane|cytosol protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CCTTGCCCATGCGTTGCAAGA 0.453000 32 17 0 0 0.00074312 0 0 TNXB 7148 broad.mit.edu 37 6 32017215 32017215 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32017215T>A uc003nzl.2 - 27 9785 c.9583A>T c.(9583-9585)Acc>Tcc p.T3195S TNXB_uc003nzh.1_5'Flank NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 3242 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TACTGCACGGTGAAGGAGTCG 0.682000 326 95 0 0 0.00361006 0 0 CDKL5 6792 broad.mit.edu 37 X 18606210 18606210 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:18606210C>T uc004cym.3 + 8 944 c.691C>T c.(691-693)Cca>Tca p.P231S CDKL5_uc004cyn.3_Missense_Mutation_p.P231S|CDKL5_uc022btn.1_Missense_Mutation_p.P222S NM_003159 NP_003150 O76039 CDKL5_HUMAN Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA. 231 Protein kinase. neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) AGGACCACTTCCATCTGAGCA 0.443000 54 122 0 0 0.00361006 0 0 LPA 4018 broad.mit.edu 37 6 160978539 160978539 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:160978539C>T uc003qtl.3 - 29 4816 c.4696G>A c.(4696-4698)Gat>Aat p.D1566N NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 4074 Kringle 14. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity p.D1566A(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ACACACGGATCGGTTGTGTAA 0.498000 56 29 0 0 0.00106085 0 0 DCLK1 9201 broad.mit.edu 37 13 36410263 36410263 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:36410263C>T uc001uvf.3 - 7 1419 c.1136G>A c.(1135-1137)gGc>gAc p.G379D MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Missense_Mutation_p.G72D|DCLK1_uc010teh.2_Missense_Mutation_p.G72D|DCLK1_uc010abk.3_Intron NM_004734 NP_004725 O15075 DCLK1_HUMAN Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA. 379 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) AATCTGGAAGCCTTCCTCCGA 0.353000 103 34 0 0 0.000953801 0 0 OGDHL 55753 broad.mit.edu 37 10 50959906 50959906 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:50959906C>T uc009xog.3 - 4 831 c.797G>A c.(796-798)cGg>cAg p.R266Q OGDHL_uc001jie.3_Missense_Mutation_p.R239Q|OGDHL_uc010qgt.2_Missense_Mutation_p.R182Q|OGDHL_uc010qgu.2_Missense_Mutation_p.R30Q|OGDHL_uc009xoh.2_Missense_Mutation_p.R30Q NM_001143997 NP_001137469 Q9ULD0 OGDHL_HUMAN Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 239 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 CAGCAGGGTCCGCTTCTCCTC 0.612000 35 29 0 0 0.00127121 0 0 CNTN2 6900 broad.mit.edu 37 1 205034298 205034298 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:205034298G>A uc001hbr.3 + 12 1872 c.1603G>A c.(1603-1605)Gac>Aac p.D535N CNTN2_uc001hbq.1_Missense_Mutation_p.D426N|CNTN2_uc001hbs.3_Missense_Mutation_p.D323N NM_005076 NP_005067 Q02246 CNTN2_HUMAN Homo sapiens contactin 2 (axonal) (CNTN2), mRNA. 535 Ig-like C2-type 6. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TGCCTCCCACGACCCCACCAT 0.547000 76 42 0 0 0.00285205 0 0 GHSR 2693 broad.mit.edu 37 3 172163185 172163185 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:172163185G>A uc003fib.2 - 1 910 c.867C>T c.(865-867)tcC>tcT p.S289S FJ355932_uc021xhj.1_5'Flank NM_198407 NP_940799 Q92847 GHSR_HUMAN Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA. 289 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CAGGCTCAAAGGATTTGGAAA 0.498000 31 10 0 0 0.000442599 0 0 CWH43 80157 broad.mit.edu 37 4 48996765 48996765 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:48996765G>A uc003gyv.3 + 4 823 c.641G>A c.(640-642)gGa>gAa p.G214E CWH43_uc011bzl.2_Missense_Mutation_p.G187E NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 214 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 TGGGTTTTTGGAGAAGTCTCT 0.542000 72 27 0 0 0.00209593 0 0 SCN9A 6335 broad.mit.edu 37 2 167168110 167168110 + Silent SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:167168110A>G uc010fpl.3 - 1 498 c.157T>C c.(157-159)Ttg>Ctg p.L53L NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 53 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CCAGCTTCCAAGTCACTGCTT 0.483000 94 40 0 0 0.0025221 0 0 F13B 2165 broad.mit.edu 37 1 197009727 197009727 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:197009727T>C uc001gtt.1 - 10 1921 c.1877A>G c.(1876-1878)tAt>tGt p.Y626C NM_001994 NP_001985 P05160 F13B_HUMAN Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA. 626 Sushi 10. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TCCAGTAATATATAATTCAGC 0.313000 54 28 0 0 0.00283554 0 0 IL1R1 3554 broad.mit.edu 37 2 102781300 102781300 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:102781300C>T uc002tbq.3 + 3 446 c.128C>T c.(127-129)cCc>cTc p.P43L IL1R1_uc010fix.3_Missense_Mutation_p.P43L|IL1R1_uc002tbr.3_Missense_Mutation_p.P43L NM_000877 NP_000868 P14778 IL1R1_HUMAN Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA. 43 Ig-like C2-type 1. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) GATGTTCGTCCCTGTCCTCTT 0.368000 39 18 0 0 0.00188189 0 0 SLC7A3 84889 broad.mit.edu 37 X 70149631 70149631 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:70149631C>T uc004dyn.3 - 1 391 c.217G>A c.(217-219)Gct>Act p.A73T SLC7A3_uc004dyo.3_Missense_Mutation_p.A73T NM_032803 NP_116192 Q8WY07 CTR3_HUMAN Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA. 73 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GACAGGGCAGCCACCAAAAAG 0.572000 1 10 0 0 0.000442599 0 0 AFF3 3899 broad.mit.edu 37 2 100210149 100210149 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:100210149G>A uc002taf.3 - 13 2193 c.2049C>T c.(2047-2049)atC>atT p.I683I AFF3_uc002tag.3_Silent_p.I658I|AFF3_uc010fiq.1_Silent_p.I658I|AFF3_uc010yvr.1_Silent_p.I811I|AFF3_uc002tah.1_Silent_p.I683I NM_001025108 NP_001020279 P51826 AFF3_HUMAN Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA. 658 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 ATTTGGGGACGATCCTGCTTA 0.612000 55 19 0 0 0.00229938 0 0 abParts 0 broad.mit.edu 37 14 107114020 107114020 + RNA SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:107114020C>A uc021ser.1 - 96 c.4209G>T Parts of antibodies, mostly variable regions. CCCCAGACTCCACCAGCTGCA 0.562000 54 47 2.60171e-41 8.2326e-41 0.00361006 1 0 OR52A5 390054 broad.mit.edu 37 11 5152977 5152977 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:5152977G>A uc010qyx.2 - 0 896 c.896C>T c.(895-897)aCc>aTc p.T299I NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA. 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AATTTGCTTGGTCTTCACTCC 0.363000 50 15 0 0 0.00400662 0 0 UGT2A3 79799 broad.mit.edu 37 4 69811101 69811101 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:69811101C>T uc003hef.2 - 1 818 c.787G>A c.(787-789)Gaa>Aaa p.E263K UGT2A3_uc010ihp.1_Non-coding_Transcript NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA. 263 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TGAGGAAATTCAAAATCCCAA 0.373000 44 18 0 0 0.00074312 0 0 KCNH7 90134 broad.mit.edu 37 2 163302565 163302565 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:163302565G>A uc002uch.2 - 6 1746 c.1517C>T c.(1516-1518)cCt>cTt p.P506L KCNH7_uc002uci.3_Missense_Mutation_p.P499L NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 506 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) CAAGTCAAAAGGAATTGCTGC 0.348000 33 8 0 0 0.000274275 0 0 NACAP1 83955 broad.mit.edu 37 8 102381355 102381355 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:102381355A>T uc003ykc.1 + 0 235 c.218A>T c.(217-219)aAg>aTg p.K73M NACAP1_uc010mbs.1_Non-coding_Transcript Homo sapiens nascent-polypeptide-associated complex alpha polypeptide pseudogene 1 (NACAP1), non-coding RNA. CGGAGTGAAAAGAAGGCACGG 0.463000 86 25 0 0 0.000878237 0 0 ANKRD16 54522 broad.mit.edu 37 10 5925946 5925946 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:5925946G>A uc010qat.2 - 3 1216 c.673C>T c.(673-675)Ctc>Ttc p.L225F ANKRD16_uc009xie.3_Missense_Mutation_p.L225F|ANKRD16_uc009xif.3_Missense_Mutation_p.L225F|ANKRD16_uc001iiq.3_Missense_Mutation_p.L225F NM_019046 NP_061919 Q6P6B7 ANR16_HUMAN Homo sapiens ankyrin repeat domain 16 (ANKRD16), transcript variant 1, mRNA. 225 breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2) 12 TGTTCATCGAGGAGCAGCCTA 0.453000 37 12 0 0 0.00316338 0 0 DCHS1 8642 broad.mit.edu 37 11 6653988 6653988 + Missense_Mutation SNP G A A rs148008642 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:6653988G>A uc001mem.1 - 5 3156 c.2755C>T c.(2755-2757)Ctt>Ttt p.L919F NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA. 919 Cadherin 9. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCGGGGTCAAGAGCCCGCAGT 0.572000 6 3 0 0 0.00024832 0 0 FAT4 79633 broad.mit.edu 37 4 126242698 126242698 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:126242698C>T uc003ifj.4 + 0 5132 c.5132C>T c.(5131-5133)gCc>gTc p.A1711V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 1711 Cadherin 16. 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 GATGTTTATGCCATAGAAAAA 0.398000 43 23 0 0 0.00278032 0 0 CYP2C19 1557 broad.mit.edu 37 10 96493144 96493144 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:96493144G>A uc001kjv.4 + 7 1566 c.1240G>A c.(1240-1242)Gat>Aat p.D414N CYP2C19_uc001kjw.4_Missense_Mutation_p.D355N|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Nonsense_Mutation_p.W17* NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 414 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity p.L413P(1) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CCACTTTCTGGATAAGAGTGG 0.428000 28 22 0 0 0.00278032 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093207 30093207 + RNA SNP A C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:30093207A>C uc010dmc.3 + 0 c.1582A>C Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA. GGGAACCCCCACCAAGGATAC 0.532000 4 3 0 0 6.4e-05 0 0 KHDC1 80759 broad.mit.edu 37 6 73919610 73919610 + RNA SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:73919610G>A uc011dyl.1 - 7 c.1483C>T Q4VXA5 KHDC1_HUMAN Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 2, mRNA. integral to membrane RNA binding large_intestine(1)|lung(4)|skin(1) 6 ATGAAGGTAGGAAAGAAGGGA 0.532000 3 5 0 0 0.000602214 0 0 ROS1 6098 broad.mit.edu 37 6 117700235 117700235 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:117700235G>A uc003pxp.1 - 16 2783 c.2584C>T c.(2584-2586)Ctt>Ttt p.L862F ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 862 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity p.V861I(1) 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) TGTCCCCGAAGAACAGCTGTG 0.393000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 40 16 0 0 0.000958276 0 0 H2BFWT 158983 broad.mit.edu 37 X 103267899 103267899 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:103267899C>T uc004elr.3 - 0 358 c.334G>A c.(334-336)Gac>Aac p.D112N NM_001002916 NP_001002916 Q7Z2G1 H2BWT_HUMAN Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA. 112 nucleosome assembly nuclear membrane|nucleosome DNA binding breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 TCCAATATGTCATGAACCAAA 0.632000 14 20 0 0 0.00229938 0 0 AKR1C3 8644 broad.mit.edu 37 10 5141525 5141525 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:5141525G>A uc001ihr.3 + 4 637 c.454G>A c.(454-456)Gag>Aag p.E152K AKR1C3_uc021pml.1_Missense_Mutation_p.E152K|AKR1C3_uc010qap.2_Missense_Mutation_p.E129K|AKR1C3_uc001ihu.3_Missense_Mutation_p.E152K NM_003739 NP_003730 P42330 AK1C3_HUMAN Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA. 152 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity p.M151V(1) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) ACAGGCCATGGAGAAGTGTAA 0.478000 46 23 0 0 0.00332997 0 0 RARB 5915 broad.mit.edu 37 3 25611335 25611335 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:25611335G>A uc011awl.2 + 3 622 c.556G>A c.(556-558)Gat>Aat p.D186N RARB_uc003cdi.2_Missense_Mutation_p.D67N|RARB_uc003cdh.3_Missense_Mutation_p.D179N NM_016152 NP_057236 P10826 RARB_HUMAN Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA. 186 Hinge. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) TGAGTTGGACGATCTCACAGA 0.483000 23 17 0 0 0.00074312 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41015527 41015527 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:41015527C>T uc003jmj.4 - 28 3428 c.2938G>A c.(2938-2940)Gat>Aat p.D980N HEATR7B2_uc003jmi.4_Missense_Mutation_p.D535N NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 980 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 TGCACGTCATCACTTTCCAGC 0.393000 41 27 0 0 0.00178596 0 0 SLC44A5 204962 broad.mit.edu 37 1 75684184 75684184 + Missense_Mutation SNP C T T rs143004355 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:75684184C>T uc010oqz.1 - 15 1703 c.1637G>A c.(1636-1638)cGa>cAa p.R546Q SLC44A5_uc001dgt.2_Missense_Mutation_p.R507Q|SLC44A5_uc001dgs.2_Missense_Mutation_p.R465Q|SLC44A5_uc001dgr.2_Missense_Mutation_p.R465Q|SLC44A5_uc001dgu.3_Missense_Mutation_p.R507Q|SLC44A5_uc010ora.2_Missense_Mutation_p.R501Q|SLC44A5_uc010orb.2_Missense_Mutation_p.R377Q NM_001130058 NP_001123530 Q8NCS7 CTL5_HUMAN Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA. 507 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 CCGTATGGCTCGTCCAAATGC 0.433000 70 96 0 0 0.00361006 0 0 RUFY2 55680 broad.mit.edu 37 10 70161453 70161453 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:70161453G>A uc001job.3 - 2 652 c.325C>T c.(325-327)Cct>Tct p.P109S RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Missense_Mutation_p.P74S|RUFY2_uc010qiw.2_Missense_Mutation_p.P16S|RUFY2_uc001jod.1_Missense_Mutation_p.P74S|RUFY2_uc009xpv.1_5'UTR|RUFY2_uc001joe.1_Missense_Mutation_p.P74S NM_017987 NP_060457 Q8WXA3 RUFY2_HUMAN Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA. 123 RUN. nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 AGTTCCAAAGGGCCCCAGATG 0.403000 16 18 0 0 0.00074312 0 0 FXYD7 53822 broad.mit.edu 37 19 35639804 35639804 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:35639804G>A uc010xsp.1 + 1 323 c.181G>A c.(181-183)Gga>Aga p.G61R FXYD7_uc002nye.1_Intron P58549 FXYD7_HUMAN Homo sapiens FXYD domain containing ion transport regulator 7 (FXYD7), mRNA. 0 integral to membrane ion channel activity NS(1)|endometrium(1)|lung(1) 3 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849) ACCAGATGGGGGAGTGGGGAT 0.587000 4 4 0 0 0.00024832 0 0 F13B 2165 broad.mit.edu 37 1 197026196 197026196 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:197026196G>A uc001gtt.1 - 6 1162 c.1118C>T c.(1117-1119)tCg>tTg p.S373L NM_001994 NP_001985 P05160 F13B_HUMAN Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA. 373 Sushi 6. blood coagulation extracellular region p.S373L(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TATCTCATTCGATCCATGGAG 0.378000 42 12 0 0 0.00185496 0 0 TBX15 6913 broad.mit.edu 37 1 119427676 119427676 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:119427676G>A uc001ehl.1 - 7 1485 c.1170C>T c.(1168-1170)ttC>ttT p.F390F TBX15_uc009whj.1_Silent_p.F214F NM_152380 NP_689593 Q96SF7 TBX15_HUMAN Homo sapiens T-box 15 (TBX15), mRNA. 496 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) GGCTGCCCCCGAACATGTGTG 0.552000 15 19 0 0 0.000958276 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72520571 72520571 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:72520571C>T uc001jrg.3 + 21 3643 c.3643C>T c.(3643-3645)Ccc>Tcc p.P1215S ADAMTS14_uc001jrh.3_Missense_Mutation_p.P1212S NM_139155 NP_631894 Q8WXS8 ATS14_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA. 1212 Pro-rich. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CCTGAGACATCCCGGCACCAG 0.642000 8 9 0 0 0.000673444 0 0 BMP10 27302 broad.mit.edu 37 2 69093694 69093694 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:69093694G>A uc002sez.1 - 1 503 c.344C>T c.(343-345)tCc>tTc p.S115F NM_014482 NP_055297 O95393 BMP10_HUMAN Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA. 115 BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis Z disc|cell surface|extracellular space cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 GACCGGCTGGGAAAACAGATC 0.428000 23 4 0 0 0.000602214 0 0 ENAM 10117 broad.mit.edu 37 4 71510045 71510045 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:71510045G>A uc011caw.1 + 8 3183 c.2902G>A c.(2902-2904)Gaa>Aaa p.E968K NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN Homo sapiens enamelin (ENAM), mRNA. 968 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) GGGCCAAAAGGAAATTATGCC 0.433000 64 19 0 0 0.00152264 0 0 DLK1 8788 broad.mit.edu 37 14 101200607 101200607 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:101200607C>T uc001yhs.4 + 4 730 c.526C>T c.(526-528)Ccc>Tcc p.P176S DLK1_uc001yhu.4_Missense_Mutation_p.P176S|DLK1_uc021sbs.1_5'Flank NM_003836 NP_003827 P80370 DLK1_HUMAN Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA. 176 EGF-like 5. multicellular organismal development extracellular space|integral to membrane|soluble fraction breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) CAGCTGCACCCCCAACCCATG 0.662000 18 21 0 0 0.00152264 0 0 NLRP9 338321 broad.mit.edu 37 19 56235485 56235485 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:56235485C>T uc002qly.3 - 3 2048 c.2020G>A c.(2020-2022)Gat>Aat p.D674N NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA. 674 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AATTCTGAATCATGTCCAAAG 0.413000 20 12 0 0 0.00136819 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140220910 140220910 + Missense_Mutation SNP G A A rs111298048 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140220910G>A uc003lhs.2 + 0 4 c.4G>A c.(4-6)Gat>Aat p.D2N PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.D2N NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 0 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTTAACATGGATTATCACTG 0.473000 66 26 0 0 0.001512 0 0 NELL1 4745 broad.mit.edu 37 11 20940877 20940877 + Silent SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:20940877A>T uc009yid.3 + 7 993 c.840A>T c.(838-840)gcA>gcT p.A280A NELL1_uc010rdp.2_Silent_p.A12A|NELL1_uc001mqe.3_Silent_p.A252A|NELL1_uc001mqf.3_Silent_p.A252A|NELL1_uc010rdo.2_Silent_p.A195A NM_006157 NP_006148 Q92832 NELL1_HUMAN Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA. 252 VWFC 1. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 AGATGACTGCAAAAGTAGGTA 0.348000 46 24 0 0 0.001512 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562928 140562928 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140562928C>T uc003liv.3 + 0 1949 c.794C>T c.(793-795)tCc>tTc p.S265F NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN Homo sapiens protocadherin beta 16 (PCDHB16), mRNA. 265 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.S265C(4)|p.S265S(1) 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) GCCACCGTCTCCGCCAGGGAT 0.478000 46 19 0 0 0.00152264 0 0 THSD4 79875 broad.mit.edu 37 15 71704066 71704066 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:71704066G>A uc002atb.1 + 5 1135 c.1056G>A c.(1054-1056)atG>atA p.M352I THSD4_uc002atd.1_Missense_Mutation_p.M26I NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA. 352 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GCCAGGCAATGGGCTACCGCT 0.443000 15 47 0 0 0.00285205 0 0 SEMA3E 9723 broad.mit.edu 37 7 83014739 83014739 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:83014739C>T uc003uhy.2 - 15 2367 c.1746G>A c.(1744-1746)ttG>ttA p.L582L SEMA3E_uc022agy.1_Silent_p.L522L NM_012431 NP_001171600 O15041 SEM3E_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA. 582 Ig-like C2-type. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) CAGTCTTATCCAAAGCATCCC 0.363000 69 25 0 0 0.00106085 0 0 ZNF653 115950 broad.mit.edu 37 19 11609119 11609119 + Missense_Mutation SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:11609119C>A uc002mrz.2 - 1 472 c.335G>T c.(334-336)cGg>cTg p.R112L NM_138783 NP_620138 Q96CK0 ZN653_HUMAN Homo sapiens zinc finger protein 653 (ZNF653), mRNA. 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 ACTTTTCTTCCGCTTTGGCTT 0.607000 195 6 0.00198382 0.00617672 0.00198382 1 0 SAMD9L 219285 broad.mit.edu 37 7 92760570 92760570 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:92760570G>A uc003umh.1 - 4 5931 c.4715C>T c.(4714-4716)tCc>tTc p.S1572F SAMD9L_uc003umj.1_Missense_Mutation_p.S1572F|SAMD9L_uc003umi.1_Missense_Mutation_p.S1572F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1572F|SAMD9L_uc003umk.1_Missense_Mutation_p.S1572F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1572F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1572F|SAMD9L_uc022ahh.1_Missense_Mutation_p.S1572F NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 1572 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GCCTTCAATGGAAAATCCTAG 0.328000 40 15 0 0 0.000566183 0 0 LILRA1 11024 broad.mit.edu 37 19 55106793 55106793 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55106793G>A uc002qgh.1 + 4 769 c.587G>A c.(586-588)aGg>aAg p.R196K LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.R196K NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 196 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TGGTCGTACAGGTGCTATGCT 0.582000 90 31 0 0 0.00283554 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156618073 156618073 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:156618073C>T uc003iov.3 + 3 590 c.54C>T c.(52-54)tcC>tcT p.S18S GUCY1A3_uc003iou.2_Silent_p.S18S|GUCY1A3_uc010iqc.2_Silent_p.S18S|GUCY1A3_uc010iqd.3_Silent_p.S18S|GUCY1A3_uc003iow.3_Silent_p.S18S|GUCY1A3_uc003iox.3_Silent_p.S18S|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Silent_p.S18S|GUCY1A3_uc003ioz.3_Intron|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Silent_p.S18S NM_000856 NP_001124157 Q02108 GCYA3_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA. 18 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) GTCCTTTCTCCTTACTGGCAC 0.522000 25 13 0 0 0.00185496 0 0 GPBAR1 151306 broad.mit.edu 37 2 219127952 219127952 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:219127952G>A uc021vwu.1 + 0 505 c.505G>A c.(505-507)Gaa>Aaa p.E169K GPBAR1_uc010zjx.1_Missense_Mutation_p.E169K|GPBAR1_uc010zjw.1_Missense_Mutation_p.E169K|GPBAR1_uc010zjy.1_Missense_Mutation_p.E169K NM_170699 NP_733800 Q8TDU6 GPBAR_HUMAN Homo sapiens G protein-coupled bile acid receptor 1 (GPBAR1), transcript variant 3, mRNA. 169 integral to membrane|plasma membrane G-protein coupled receptor activity p.E169K(3) cervix(1)|kidney(1)|large_intestine(1)|ovary(1) 4 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTGTACCTCGAAGTCTATGG 0.662000 35 18 0 0 0.00152264 0 0 OR5M11 219487 broad.mit.edu 37 11 56310629 56310629 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:56310629G>A uc010rjl.2 - 0 105 c.105C>T c.(103-105)taC>taT p.Y35Y OR8U8_uc001nit.2_Intron NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA. 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 GGGTGACGAGGTAAACAACCA 0.473000 41 36 0 0 0.00428921 0 0 MRM1 79922 broad.mit.edu 37 17 34964773 34964773 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:34964773C>T uc002hne.3 + 4 1199 c.984C>T c.(982-984)gcC>gcT p.A328A MRM1_uc002hnf.3_Silent_p.A133A NM_024864 NP_079140 Q6IN84 MRM1_HUMAN Homo sapiens mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) (MRM1), nuclear gene encoding mitochondrial protein, mRNA. 328 RNA processing mitochondrion RNA binding|RNA methyltransferase activity NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) AACCCTCAGCCAGGTCTGAAG 0.567000 63 49 0 0 0.00361006 0 0 CYP4A11 1579 broad.mit.edu 37 1 47399937 47399937 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:47399937G>A uc001cqp.4 - 7 1050 c.999C>T c.(997-999)atC>atT p.I333I CYP4A11_uc001cqq.2_Silent_p.I333I|CYP4A11_uc010omm.1_Non-coding_Transcript NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 333 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GAGCATAGAGGATCCAGGAGA 0.592000 22 7 0 0 0.00244969 0 0 ATP10A 57194 broad.mit.edu 37 15 25925961 25925961 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:25925961G>A uc010ayu.3 - 18 3780 c.3674C>T c.(3673-3675)aCc>aTc p.T1225I NM_024490 NP_077816 O60312 AT10A_HUMAN Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA. 1225 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.K1224N(1) NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TCTTACCCAGGTTTTGGTTTC 0.557000 42 36 0 0 0.00111076 0 0 CFHR2 3080 broad.mit.edu 37 1 196928202 196928202 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:196928202G>A uc001gtq.1 + 4 882 c.805G>A c.(805-807)Gaa>Aaa p.E269K CFHR2_uc001gtr.1_Missense_Mutation_p.E145K NM_005666 NP_005657 P36980 FHR2_HUMAN Homo sapiens complement factor H-related 2 (CFHR2), mRNA. 269 extracellular region large_intestine(2)|ovary(1)|skin(3) 6 CAGTTGTGAAGAAAAATAGAA 0.294000 35 15 0 0 0.000566183 0 0 RCN1 5954 broad.mit.edu 37 11 32124946 32124946 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:32124946C>T uc010reb.2 + 4 1074 c.808C>T c.(808-810)Cgc>Tgc p.R270C RCN1_uc021qfp.1_Missense_Mutation_p.R104C|RCN1_uc001mtk.3_Missense_Mutation_p.R104C NM_002901 NP_002892 Q15293 RCN1_HUMAN Homo sapiens reticulocalbin 1, EF-hand calcium binding domain (RCN1), mRNA. 270 EF-hand 5. endoplasmic reticulum lumen calcium ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6) 17 Lung SC(675;0.225) AGATGAGATTCGCCACTGGAT 0.473000 60 30 0 0 0.0024448 0 0 ANK3 288 broad.mit.edu 37 10 61898789 61898789 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:61898789C>T uc001jky.3 - 23 3009 c.2671G>A c.(2671-2673)Gaa>Aaa p.E891K ANK3_uc001jkw.3_Missense_Mutation_p.E25K|ANK3_uc009xpa.3_Missense_Mutation_p.E25K|ANK3_uc001jkx.3_Missense_Mutation_p.E69K|ANK3_uc010qih.2_Missense_Mutation_p.E892K|ANK3_uc001jkz.4_Missense_Mutation_p.E885K|ANK3_uc001jlb.1_Missense_Mutation_p.E399K|ANK3_uc001jlc.1_Missense_Mutation_p.E531K NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 891 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TCACCCAATTCCTTAAGGTCC 0.483000 31 22 0 0 0.00188189 0 0 ANO2 57101 broad.mit.edu 37 12 5848555 5848555 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:5848555G>A uc001qnm.2 - 12 1422 c.1350C>T c.(1348-1350)ttC>ttT p.F450F NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN Homo sapiens anoctamin 2 (ANO2), mRNA. 455 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 AGTTTTCCAGGAACATGGTAG 0.438000 10 7 0 0 0.00198382 0 0 COBLL1 22837 broad.mit.edu 37 2 165551054 165551054 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:165551054G>A uc002ucp.3 - 11 3184 c.2962C>T c.(2962-2964)Ccc>Tcc p.P988S COBLL1_uc002ucq.3_Missense_Mutation_p.P950S|COBLL1_uc010zcw.2_Missense_Mutation_p.P1055S|COBLL1_uc010zcx.2_Missense_Mutation_p.P996S|COBLL1_uc002ucn.3_Missense_Mutation_p.P416S|COBLL1_uc002uco.3_Missense_Mutation_p.P719S NM_014900 NP_055715 Q53SF7 COBL1_HUMAN Homo sapiens COBL-like 1 (COBLL1), mRNA. 1026 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 GGAGCTATGGGAGGAGGGGAG 0.463000 37 12 0 0 0.00185496 0 0 SERAC1 84947 broad.mit.edu 37 6 158535902 158535902 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:158535902G>A uc003qrc.2 - 14 1745 c.1603C>T c.(1603-1605)Cat>Tat p.H535Y SERAC1_uc003qrb.2_Missense_Mutation_p.H263Y NM_032861 NP_116250 Q96JX3 SRAC1_HUMAN Homo sapiens serine active site containing 1 (SERAC1), mRNA. 535 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) CGTGATCCATGATGAGGGACA 0.383000 174 74 0 0 0.00361006 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110376775 110376775 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:110376775G>A uc003yne.3 + 2 178 c.74_splice c.e2-1 p.D25_splice NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 25 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATATTTTTCAGATGGCTCTCA 0.348000 HNSCC(38;0.096) 18 9 0 0 0.000442599 0 0 PLA2R1 22925 broad.mit.edu 37 2 160798468 160798468 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:160798468G>A uc002ube.2 - 29 4425 c.4213C>T c.(4213-4215)Ctg>Ttg p.L1405L PLA2R1_uc010zcp.2_Silent_p.L1403L NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 1405 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 ATCAGTGTCAGTACAACCGCA 0.403000 72 31 0 0 0.00128727 0 0 MRPL4 51073 broad.mit.edu 37 19 10369321 10369321 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:10369321C>T uc002mnm.3 + 8 853 c.699C>T c.(697-699)gcC>gcT p.A233A MRPL4_uc002mnn.3_Silent_p.A233A|MRPL4_uc002mno.3_Silent_p.A233A NM_146387 NP_666499 Q9BYD3 RM04_HUMAN Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 233 translation mitochondrion|ribosome structural constituent of ribosome breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 Renal(1328;0.0112) OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06) Lung(535;0.00705) TCGTGGAGGCCACCTCTAGGC 0.592000 39 20 0 0 0.000958276 0 0 TRHR 7201 broad.mit.edu 37 8 110100443 110100443 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:110100443G>A uc003ymz.4 + 0 791 c.702G>A c.(700-702)tgG>tgA p.W234* NM_003301 NP_003292 P34981 TRFR_HUMAN Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA. 234 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CTAAGACATGGAAAAATGATT 0.378000 30 11 0 0 0.000978159 0 0 ZNF208 7757 broad.mit.edu 37 19 22154204 22154204 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:22154204G>A uc021urr.1 - 3 3781 c.3632C>T c.(3631-3633)aCc>aTc p.T1211I ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) ATATCTAAGGGTTGAGGGCCA 0.373000 47 16 0 0 0.00316338 0 0 NOS1 4842 broad.mit.edu 37 12 117665347 117665347 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:117665347G>A uc001twn.2 - 23 4318 c.3607C>T c.(3607-3609)Ctg>Ttg p.L1203L NOS1_uc021ren.1_Silent_p.L833L|NOS1_uc021reo.1_Silent_p.L833L|NOS1_uc001twm.2_Silent_p.L1169L NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 1169 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.R1203H(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) AGCTGGGTCAGGAGCAGGGTG 0.582000 60 28 0 0 0.00111076 0 0 PSG4 5672 broad.mit.edu 37 19 43702206 43702206 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:43702206C>T uc002ovy.3 - 2 754 c.652G>A c.(652-654)Gaa>Aaa p.E218K PSG4_uc010xwk.1_Missense_Mutation_p.E57K|PSG4_uc002ovz.3_Missense_Mutation_p.E218K|PSG4_uc002owb.3_Intron NM_002780 NP_002771 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA. 218 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) TTCCGTATTTCACATTCATAG 0.512000 40 46 0 0 0.00361006 0 0 PLA2G12A 81579 broad.mit.edu 37 4 110650855 110650855 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:110650855G>A uc003hzp.3 - 0 388 c.111C>T c.(109-111)acC>acT p.T37T PLA2G12A_uc010img.3_Silent_p.T37T NM_030821 NP_110448 Q9BZM1 PG12A_HUMAN Homo sapiens phospholipase A2, group XIIA (PLA2G12A), mRNA. 37 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity kidney(1)|lung(1)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(123;0.000268) CGTTCCGGATGGTCTTCAGGG 0.627000 13 5 0 0 0.00116845 0 0 MYOC 4653 broad.mit.edu 37 1 171621335 171621335 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:171621335C>T uc001ghu.3 - 0 439 c.417G>A c.(415-417)gaG>gaA p.E139E MYOC_uc010pmk.2_Silent_p.E81E NM_000261 NP_000252 Q99972 MYOC_HUMAN Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA. 139 anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TGTAGGCAGTCTCCAACTCTC 0.592000 66 29 0 0 0.000878237 0 0 FAM13A 10144 broad.mit.edu 37 4 89671049 89671049 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:89671049G>A uc003hse.1 - 15 2160 c.1952C>T c.(1951-1953)tCc>tTc p.S651F FAM13A_uc003hsa.1_Missense_Mutation_p.S122F|FAM13A_uc003hsb.1_Missense_Mutation_p.S325F|FAM13A_uc003hsd.1_Missense_Mutation_p.S325F|FAM13A_uc003hsc.1_Missense_Mutation_p.S311F|FAM13A_uc011cdq.1_Missense_Mutation_p.S297F|FAM13A_uc003hsf.1_Missense_Mutation_p.S237F|FAM13A_uc003hsg.1_Missense_Mutation_p.S122F|FAM13A_uc010ikr.1_Missense_Mutation_p.S147F NM_014883 NP_055698 O94988 FA13A_HUMAN Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA. 651 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 CCCCAGAGAGGAGCTTCGCCG 0.547000 32 13 0 0 0.00185496 0 0 SORCS3 22986 broad.mit.edu 37 10 106918660 106918660 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:106918660C>T uc001kyi.1 + 10 1867 c.1640C>T c.(1639-1641)tCc>tTc p.S547F NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 547 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) CCCTTCTGTTCCTTACATCTG 0.468000 27 14 0 0 0.00121646 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321894 79321894 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:79321894G>A uc010mpk.3 - 7 5420 c.5296C>T c.(5296-5298)Ccc>Tcc p.P1766S PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.P1588S NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 1766 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AAAGTCCAGGGATCAGGGCTG 0.438000 46 16 0 0 0.000566183 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69101869 69101869 + Splice_Site SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:69101869C>T uc003hdw.4 - 3 376 c.240_splice c.e3+1 p.K80_splice NM_182502 NP_872308 Q86T26 TM11B_HUMAN Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA. 80 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 TCTGATTTACCTTAGTCTCAA 0.284000 22 11 0 0 0.000673444 0 0 MTMR4 9110 broad.mit.edu 37 17 56581792 56581792 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:56581792G>A uc002iwj.2 - 12 1467 c.1357C>T c.(1357-1359)Cgc>Tgc p.R453C NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN Homo sapiens myotubularin related protein 4 (MTMR4), mRNA. 453 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGGCCACAGCGATCTCCAAAC 0.483000 85 24 0 0 0.000720815 0 0 AKAP6 9472 broad.mit.edu 37 14 33293360 33293360 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:33293360C>T uc001wrq.3 + 12 6511 c.6341C>T c.(6340-6342)tCt>tTt p.S2114F NM_004274 NP_004265 Q13023 AKAP6_HUMAN Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA. 2114 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TCGTACTTATCTCTCTCATCT 0.463000 30 29 0 0 0.001512 0 0 RGNEF 64283 broad.mit.edu 37 5 73190268 73190268 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:73190268C>T uc010izf.3 + 28 3885 c.3709C>T c.(3709-3711)Ctg>Ttg p.L1237L RGNEF_uc011csq.2_Silent_p.L1237L|RGNEF_uc021yam.1_Silent_p.L1237L|RGNEF_uc011csr.2_Silent_p.L924L|RGNEF_uc003kcz.4_Silent_p.L201L|RGNEF_uc003kda.4_Silent_p.L201L NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA. 1237 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) GGAGGAGAAGCTGCATATCTA 0.438000 21 4 0 0 0.00024832 0 0 GJA10 84694 broad.mit.edu 37 6 90604299 90604299 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:90604299C>T uc011eaa.2 + 0 112 c.112C>T c.(112-114)Cgt>Tgt p.R38C NM_032602 NP_115991 Q969M2 CXA10_HUMAN Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA. 38 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) GCTGGTACTTCGTGTGGCTGC 0.498000 52 26 0 0 0.00395357 0 0 FGD2 221472 broad.mit.edu 37 6 36982774 36982774 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:36982774C>T uc010jwp.1 + 7 1160 c.989C>T c.(988-990)tCc>tTc p.S330F FGD2_uc003ong.2_Missense_Mutation_p.S52F|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Missense_Mutation_p.S136F NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA. 330 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 CTCAAGATCTCCTTCCGCCGC 0.627000 38 6 0 0 0.00307968 0 0 OR51E1 143503 broad.mit.edu 37 11 4674639 4674639 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:4674639G>A uc021qcq.1 + 0 883 c.883G>A c.(883-885)Gga>Aga p.G295R OR51E1_uc001lzi.4_Missense_Mutation_p.G295R NM_152430 NP_689643 Q8TCB6 O51E1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA. 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) AATTGTCTATGGAGTGAAGAC 0.512000 63 30 0 0 0.00283554 0 0 MYH13 8735 broad.mit.edu 37 17 10248823 10248823 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10248823G>A uc002gmk.1 - 13 1464 c.1374C>T c.(1372-1374)ttC>ttT p.F458F MYH13_uc010vvf.1_Silent_p.F133F NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 458 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 AGACCCCGATGAAGTACTGCC 0.512000 45 46 0 0 0.00361006 0 0 OR1L6 392390 broad.mit.edu 37 9 125512453 125512453 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:125512453G>A uc022bna.1 + 0 327 c.327G>A c.(325-327)ggG>ggA p.G109G NM_001004453 NP_001004453 Q8NGR2 OR1L6_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA. 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 TGGCATTTGGGAACACTGACA 0.502000 74 54 0 0 0.00361006 0 0 AIP 9049 broad.mit.edu 37 11 67256782 67256782 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:67256782C>T uc001olv.3 + 2 449 c.324C>T c.(322-324)atC>atT p.I108I NM_003977 NP_003968 O00170 AIP_HUMAN Homo sapiens aryl hydrocarbon receptor interacting protein (AIP), mRNA. 108 PPIase FKBP-type. protein maturation by protein folding|protein targeting to mitochondrion nucleus signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2) 7 TCCGCAACATCGCGGTGGGCA 0.687000 Familial Isolated Pituitary Adenoma 12 6 0 0 0.00198382 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140215029 140215029 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140215029C>T uc003lhq.2 + 0 1061 c.1061C>T c.(1060-1062)tCc>tTc p.S354F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.S354F NM_018910 NP_061733 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA. 369 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTCTCACTTCCCTGTCTCTC 0.502000 70 41 0 0 0.00285205 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673171 141673171 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:141673171G>A uc003vwx.1 - 0 403 c.319C>T c.(319-321)Ctc>Ttc p.L107F NM_176817 NP_789787 P59533 T2R38_HUMAN Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA. 107 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) GCAAGCCAGAGGTTGGCTTGG 0.517000 71 30 0 0 0.00327116 0 0 REV3L 5980 broad.mit.edu 37 6 111696857 111696857 + Missense_Mutation SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:111696857C>A uc003puy.4 - 12 3042 c.2701G>T c.(2701-2703)Gat>Tat p.D901Y REV3L_uc003pux.4_Missense_Mutation_p.D823Y|REV3L_uc003puz.4_Missense_Mutation_p.D823Y NM_002912 NP_002903 O60673 DPOLZ_HUMAN Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA. 901 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AACGTTCCATCTCCAAAGTGA 0.383000 DNA polymerases (catalytic subunits) 78 39 1.32136e-16 4.17222e-16 0.00195071 1 0 ZNF225 7768 broad.mit.edu 37 19 44635117 44635117 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:44635117C>T uc002oyj.1 + 4 593 c.350C>T c.(349-351)tCc>tTc p.S117F ZNF225_uc010ejf.1_Missense_Mutation_p.S117F NM_013362 NP_037494 Q9UK10 ZN225_HUMAN Homo sapiens zinc finger protein 225 (ZNF225), mRNA. 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) TTTCAAGACTCCATGGTAAAC 0.423000 155 58 0 0 0.00361006 0 0 NRP2 8828 broad.mit.edu 37 2 206580965 206580965 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:206580965C>T uc002vaw.3 + 2 1091 c.300C>T c.(298-300)ctC>ctT p.L100L NRP2_uc002vat.3_Silent_p.L100L|NRP2_uc002vau.3_Silent_p.L100L|NRP2_uc002vav.3_Silent_p.L100L|NRP2_uc002vax.3_Silent_p.L100L|NRP2_uc002vay.3_Silent_p.L100L|NRP2_uc010fud.3_Silent_p.L100L NM_201266 NP_957718 O60462 NRP2_HUMAN Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA. 100 CUB 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 CCGCAGACCTCCTGGGCAAAC 0.577000 58 28 0 0 0.00127121 0 0 SLC25A17 10478 broad.mit.edu 37 22 41175070 41175070 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:41175070G>A uc003azc.3 - 4 534 c.394C>T c.(394-396)Caa>Taa p.Q132* SLC25A17_uc010gyg.3_Non-coding_Transcript|SLC25A17_uc011aou.2_Nonsense_Mutation_p.Q95*|SLC25A17_uc003azd.3_Non-coding_Transcript|SLC25A17_uc011aov.2_Nonsense_Mutation_p.Q59* NM_006358 NP_006349 O43808 PM34_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA. 132 fatty acid alpha-oxidation integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane adenine nucleotide transmembrane transporter activity|protein binding central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1) 8 TTTGCTCCTTGAAGCTTCAGT 0.383000 12 18 0 0 0.000958276 0 0 AMBP 259 broad.mit.edu 37 9 116823280 116823280 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:116823280C>T uc004bie.4 - 8 1215 c.952G>A c.(952-954)Ggg>Agg p.G318R AMBP_uc011lxk.2_3'UTR NM_001633 NP_001624 P02760 AMBP_HUMAN Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA. 318 BPTI/Kunitz inhibitor 2. cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage extracellular region|plasma membrane IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity p.G318W(2)|p.G318G(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) TGGCAGCCCCCGTAGGGGAAG 0.622000 38 28 0 0 0.000720815 0 0 PIK3CB 5291 broad.mit.edu 37 3 138384011 138384011 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:138384011G>A uc011bmq.2 - 17 2539 c.2539C>T c.(2539-2541)Cgc>Tgc p.R847C PIK3CB_uc011bmn.2_Missense_Mutation_p.R359C|PIK3CB_uc011bmo.2_Missense_Mutation_p.R298C|PIK3CB_uc011bmp.2_Missense_Mutation_p.R434C NM_006219 NP_006210 P42338 PK3CB_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA. 847 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R847G(2) NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AGGCCAGAGCGATCTCCTGTT 0.418000 234 116 0 0 0.00361006 0 0 VCL 7414 broad.mit.edu 37 10 75854043 75854043 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:75854043C>T uc001jwd.3 + 10 1461 c.1367C>T c.(1366-1368)tCt>tTt p.S456F VCL_uc009xrr.3_Missense_Mutation_p.S205F|VCL_uc010qky.1_Missense_Mutation_p.S363F|VCL_uc001jwe.3_Missense_Mutation_p.S456F|VCL_uc010qkz.2_Intron NM_014000 NP_054706 P18206 VINC_HUMAN Homo sapiens vinculin (VCL), transcript variant 1, mRNA. 456 3 X 112 AA tandem repeats.|N-terminal globular head. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) AAAGGAGATTCTCCAGAGGCT 0.512000 17 18 0 0 0.00278032 0 0 WRB 7485 broad.mit.edu 37 21 40765190 40765190 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:40765190T>A uc002yxs.3 + 3 533 c.435T>A c.(433-435)ttT>ttA p.F145L WRB_uc002yxt.4_Missense_Mutation_p.F111L|WRB_uc010goj.3_Non-coding_Transcript NM_004627 NP_001139690 O00258 WRB_HUMAN Homo sapiens tryptophan rich basic protein (WRB), transcript variant 1, mRNA. 145 integral to membrane|nucleolus endometrium(3) 3 Prostate(19;1.2e-06) TGGTAGCCTTTCCTACTAGAG 0.463000 22 10 0 0 0.000673444 0 0 IFNW1 3467 broad.mit.edu 37 9 21141054 21141054 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:21141054C>T uc003zol.1 - 0 1091 c.516G>A c.(514-516)atG>atA p.M172I NM_002177 NP_002168 P05000 IFNW1_HUMAN Homo sapiens interferon, omega 1 (IFNW1), mRNA. 172 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|lung(2)|ovary(1) 5 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) ACAAGGATTTCATGATTTCCA 0.413000 33 21 0 0 0.00395357 0 0 DLGAP1 9229 broad.mit.edu 37 18 3879386 3879386 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:3879386G>A uc002kmf.3 - 3 1210 c.683C>T c.(682-684)cCc>cTc p.P228L DLGAP1_uc010wyz.2_Missense_Mutation_p.P228L|DLGAP1_uc002kmk.2_Missense_Mutation_p.P228L|LOC201477_uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA. 228 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CGAGCGGTCGGGGCACCTGCC 0.652000 43 29 0 0 0.001512 0 0 PROL1 58503 broad.mit.edu 37 4 71275427 71275427 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:71275427C>T uc003hfi.3 + 2 556 c.382C>T c.(382-384)Cct>Tct p.P128S NM_021225 NP_067048 Q99935 PROL1_HUMAN Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA. 128 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity p.P128S(2) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) TCCTCCTATTCCTTTTTTTCT 0.433000 93 36 0 0 0.00375469 0 0 KANK4 163782 broad.mit.edu 37 1 62733963 62733963 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:62733963C>T uc001dah.4 - 4 2604 c.2227G>A c.(2227-2229)Gag>Aag p.E743K KANK4_uc001dai.4_Missense_Mutation_p.E115K|KANK4_uc001dag.4_Missense_Mutation_p.E99K NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA. 743 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 GCTCACCTCTCGGCCTTGGAG 0.562000 18 21 0 0 0.00278032 0 0 KCNS2 3788 broad.mit.edu 37 8 99441541 99441541 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:99441541G>A uc003yin.3 + 1 1684 c.1334G>A c.(1333-1335)aGg>aAg p.R445K KCNS2_uc022azb.1_Missense_Mutation_p.R445K NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA. 445 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) GTCAATTTAAGGGACTATTAT 0.463000 61 34 0 0 0.00428921 0 0 PPIL2 23759 broad.mit.edu 37 22 22043086 22043086 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:22043086C>T uc010gtj.1 + 14 1203 c.1087C>T c.(1087-1089)Cgc>Tgc p.R363C PPIL2_uc002zvh.4_Missense_Mutation_p.R363C|PPIL2_uc002zvi.4_Missense_Mutation_p.R363C|PPIL2_uc002zvg.4_Missense_Mutation_p.R363C|PPIL2_uc011aij.2_Missense_Mutation_p.R342C|PPIL2_uc002zvk.4_Missense_Mutation_p.R109C NM_148175 NP_680480 Q13356 PPIL2_HUMAN Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA. 363 PPIase cyclophilin-type. blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity p.G362C(1) endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) GCACACGGGCCGCGGCATCCT 0.627000 60 31 0 0 0.000953801 0 0 TNFRSF1A 7132 broad.mit.edu 37 12 6443283 6443283 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:6443283G>A uc001qnu.3 - 1 470 c.167C>T c.(166-168)tCg>tTg p.S56L TNFRSF1A_uc001qnt.3_5'UTR|TNFRSF1A_uc010sey.2_5'UTR|TNFRSF1A_uc010sez.2_Intron|TNFRSF1A_uc009zek.3_Missense_Mutation_p.S56L|TNFRSF1A_uc010sfa.2_Missense_Mutation_p.S56L NM_001065 NP_001056 P19438 TNR1A_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA. 56 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 19 ACAGCAAATCGAATTATTTTG 0.502000 61 30 0 0 0.00428921 0 0 CDON 50937 broad.mit.edu 37 11 125889518 125889518 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:125889518G>A uc009zbw.3 - 3 620 c.492C>T c.(490-492)tcC>tcT p.S164S CDON_uc001qdc.4_Silent_p.S164S|CDON_uc001qdd.4_Non-coding_Transcript|CDON_uc009zbx.3_Silent_p.S164S NM_001243597 NP_001230526 Q4KMG0 CDON_HUMAN Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA. 164 Ig-like C2-type 2. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) TCTCACCTGTGGAATGTTCCA 0.473000 76 57 0 0 0.00361006 0 0 THSD7B 80731 broad.mit.edu 37 2 138030160 138030160 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:138030160G>A uc002tva.1 + 9 2231 c.2231G>A c.(2230-2232)gGa>gAa p.G744E THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G634E NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. p.S744I(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GCAGCCAATGGAGGCCAGGAA 0.388000 22 12 0 0 0.00136819 0 0 FRMPD2 143162 broad.mit.edu 37 10 49392706 49392706 + Silent SNP C T T rs115484322 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:49392706C>T uc001jgi.3 - 19 2818 c.2487G>A c.(2485-2487)ctG>ctA p.L829L FRMPD2_uc001jgh.3_Silent_p.L797L|FRMPD2_uc001jgj.3_Silent_p.L798L NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 829 PDZ 1. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TGATGTGATTCAGGGCTAGTA 0.358000 16 14 0 0 0.00316338 0 0 HES3 390992 broad.mit.edu 37 1 6304301 6304301 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:6304301G>A uc009vly.2 + 1 50 c.-15_splice c.e1+1 NM_001024598 NP_001019769 Q5TGS1 HES3_HUMAN Homo sapiens hairy and enhancer of split 3 (Drosophila) (HES3), mRNA. transcription, DNA-dependent nucleus DNA binding lung(2)|skin(1) 3 Ovarian(185;0.0634) all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241) ACTTCCGAAAGGTCTGGGGTC 0.667000 2 3 0 0 6.4e-05 0 0 ZHX2 22882 broad.mit.edu 37 8 123966097 123966097 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:123966097G>A uc022bag.1 + 0 2347 c.2347G>A c.(2347-2349)Gac>Aac p.D783N ZHX2_uc003ypk.1_Missense_Mutation_p.D783N NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA. 783 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) CCAGGGTAGCGACGAGAACGA 0.602000 15 7 0 0 0.00198382 0 0 MYL2 4633 broad.mit.edu 37 12 111348965 111348965 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:111348965G>A uc001try.4 - 6 488 c.417C>T c.(415-417)ttC>ttT p.F139F MYL2_uc001trx.4_Silent_p.F120F NM_000432 NP_000423 P10916 MLRV_HUMAN Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA. 139 EF-hand 3. cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 12 GGAAGGCGGCGAACATCTGGT 0.617000 82 30 0 0 0.00111076 0 0 OR6B1 135946 broad.mit.edu 37 7 143701246 143701246 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:143701246C>T uc003wdt.1 + 0 157 c.157C>T c.(157-159)Cgg>Tgg p.R53W NM_001005281 NP_001005281 O95007 OR6B1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA. 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) GCTGCAAAATCGGCCACTGCA 0.473000 38 16 0 0 0.00316338 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37505221 37505221 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:37505221G>A uc021ppc.1 + 31 2913 c.2814G>A c.(2812-2814)aaG>aaA p.K938K ANKRD30A_uc001iza.1_Silent_p.K938K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 994 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 AAATGAAAAAGAAGTTTTGTG 0.338000 64 22 0 0 0.00278032 0 0 ZNF676 163223 broad.mit.edu 37 19 22363165 22363165 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:22363165C>T uc002nqs.1 - 2 1672 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CCACATTCTTCACATTTGTAG 0.438000 83 30 0 0 0.00428921 0 0 DYSF 8291 broad.mit.edu 37 2 71840537 71840537 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:71840537C>T uc010fen.3 + 39 4602 c.4461C>T c.(4459-4461)atC>atT p.I1487I DYSF_uc010fei.3_Silent_p.I1486I|DYSF_uc010feh.3_Silent_p.I1455I|DYSF_uc002sig.4_Silent_p.I1455I|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.I1500I|DYSF_uc010fee.3_Silent_p.I1469I|DYSF_uc010fef.3_Silent_p.I1486I|DYSF_uc002sie.3_Silent_p.I1469I|DYSF_uc010feo.3_Silent_p.I1501I|DYSF_uc010fej.3_Silent_p.I1456I|DYSF_uc010fel.3_Silent_p.I1456I|DYSF_uc010fem.3_Silent_p.I1470I|DYSF_uc002sif.3_Silent_p.I1470I|DYSF_uc010fek.3_Silent_p.I1487I|DYSF_uc010yqy.2_Silent_p.I350I|DYSF_uc010yqz.2_Silent_p.I209I NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1469 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TCATCCCCATCCAGGTAGGAT 0.582000 17 9 0 0 0.000673444 0 0 ENTHD1 150350 broad.mit.edu 37 22 40140134 40140134 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:40140134G>A uc003ayg.3 - 6 1625 c.1374C>T c.(1372-1374)tcC>tcT p.S458S NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA. 458 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) CATCTTTAAAGGAGGTAGAAG 0.468000 28 9 0 0 0.000442599 0 0 NLRP5 126206 broad.mit.edu 37 19 56569775 56569775 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:56569775G>A uc002qmj.3 + 14 3470 c.3470_splice c.e14+1 p.G1157_splice NLRP5_uc002qmi.3_Splice_Site_p.G1138_splice NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 1157 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) ACAGATAATTGGGTAAGTCGC 0.463000 14 7 0 0 0.00198382 0 0 C10orf120 399814 broad.mit.edu 37 10 124459258 124459259 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:124459258_124459259CC>TT uc001lgn.3 - 0 80_81 c.48_49GG>AA c.(46-51)agggct>agAAct p.A17T NM_001010912 NP_001010912 Q5SQS8 CJ120_HUMAN Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA. 17 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) GTGTCACTAGCCCTCTGTTTTT 0.431000 39 16 0 0 6.4e-05 0 0 CTNNAL1 8727 broad.mit.edu 37 9 111734999 111734999 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:111734999C>T uc004bdo.1 - 8 1345 c.1303G>A c.(1303-1305)Gaa>Aaa p.E435K CTNNAL1_uc010mts.1_Intron|CTNNAL1_uc004bdp.1_Missense_Mutation_p.E435K NM_003798 NP_003789 Q9UBT7 CTNL1_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA. 435 Rho protein signal transduction|cell adhesion actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) CAGGCATATTCAGCCAAAGCT 0.358000 68 66 0 0 0.00361006 0 0 RHBDL1 9028 broad.mit.edu 37 16 726698 726698 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:726698C>T uc002cis.1 + 1 450 c.423C>T c.(421-423)ttC>ttT p.F141F RHBDL1_uc002cir.1_Silent_p.F76F|RHBDL1_uc010uun.1_Silent_p.F76F NM_003961 NP_003952 O75783 RHBL1_HUMAN Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA. 141 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|lung(4)|urinary_tract(3) 9 Hepatocellular(780;0.0218) CCAGCAGTTTCAAGCGGGCCA 0.667000 32 10 0 0 0.000673444 0 0 DCHS2 54798 broad.mit.edu 37 4 155157450 155157450 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:155157450G>A uc003inw.2 - 24 6989 c.6989C>T c.(6988-6990)tCc>tTc p.S2330F NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 2330 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TATGGTAGAGGAAATAGGCAG 0.408000 43 11 0 0 0.00136819 0 0 KRT9 3857 broad.mit.edu 37 17 39724826 39724826 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:39724826C>T uc002hxe.4 - 4 1170 c.1104G>A c.(1102-1104)aaG>aaA p.K368K JUP_uc010wfs.2_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN Homo sapiens keratin 9 (KRT9), mRNA. 368 Coil 2.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) GGGTCACCTCCTTGGCACTGG 0.547000 183 164 0 0 0.00361006 0 0 OR5V1 81696 broad.mit.edu 37 6 29323035 29323035 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:29323035G>A uc011dlo.2 - 0 1020 c.938C>T c.(937-939)tCc>tTc p.S313F NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA. 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S313F(4) breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATCCAAAGAGGAAATTGGTGG 0.358000 58 25 0 0 0.00395357 0 0 TTN 7273 broad.mit.edu 37 2 179659879 179659879 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179659879G>A uc021vsy.1 - 6 1240 c.1015C>T c.(1015-1017)Cct>Tct p.P339S TTN_uc021vsz.1_Missense_Mutation_p.P339S|TTN_uc021vta.1_Missense_Mutation_p.P339S|TTN_uc021vtb.1_Missense_Mutation_p.P339S|TTN_uc002unb.2_Missense_Mutation_p.P339S|TTN_uc010frg.1_Missense_Mutation_p.P13S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 339 ZIS1. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G338C(1) 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) GGCACTTCAGGACCTGTGGCC 0.562000 41 24 0 0 0.00395357 0 0 KCNJ10 3766 broad.mit.edu 37 1 160012041 160012041 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:160012041C>T uc001fuw.2 - 1 522 c.282G>A c.(280-282)ggG>ggA p.G94G NM_002241 NP_002232 P78508 IRK10_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA. 94 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCAGCAGGTCCCCATGTGCCA 0.582000 37 24 0 0 0.000720815 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519598 113519598 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:113519598C>T uc010ljy.1 - 3 1580 c.1549G>A c.(1549-1551)Gat>Aat p.D517N NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 517 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TGTTCTTCATCATCCTTACCA 0.328000 45 15 0 0 0.00316338 0 0 NDRG2 57447 broad.mit.edu 37 14 21485762 21485762 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:21485762G>A uc001vyy.3 - 16 1259 c.1109C>T c.(1108-1110)tCc>tTc p.S370F NDRG2_uc010tll.2_Missense_Mutation_p.S366F|NDRG2_uc001vyt.3_Missense_Mutation_p.S283F|NDRG2_uc001vyu.3_Missense_Mutation_p.S327F|NDRG2_uc001vyv.3_Missense_Mutation_p.S356F|NDRG2_uc001vyw.3_Missense_Mutation_p.S356F|NDRG2_uc001vzb.3_Missense_Mutation_p.S310F|NDRG2_uc001vyx.3_Missense_Mutation_p.S370F|NDRG2_uc001vza.3_Missense_Mutation_p.S356F|NDRG2_uc001vyz.3_Missense_Mutation_p.S356F|NDRG2_uc001vzc.3_Missense_Mutation_p.S340F|NDRG2_uc010aig.3_Missense_Mutation_p.S359F|NDRG2_uc001vze.3_Missense_Mutation_p.S370F|NDRG2_uc001vzd.3_Missense_Mutation_p.S370F|NDRG2_uc001vzg.3_Missense_Mutation_p.S356F|NDRG2_uc001vzf.3_Missense_Mutation_p.S356F NM_201540 NP_963834 Q9UN36 NDRG2_HUMAN Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA. 370 cell differentiation|nervous system development Golgi apparatus|centrosome|cytosol|nucleus|perinuclear region of cytoplasm breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 23 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) CATTCAACAGGAGACCTCCAT 0.632000 7 3 0 0 0.00024832 0 0 TGFBR3 7049 broad.mit.edu 37 1 92262983 92262983 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:92262983G>A uc001doh.3 - 2 622 c.107C>T c.(106-108)tCc>tTc p.S36F TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_5'UTR|TGFBR3_uc001doi.3_Missense_Mutation_p.S36F|TGFBR3_uc001doj.3_Missense_Mutation_p.S36F NM_003243 NP_003234 Q03167 TGBR3_HUMAN Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA. 36 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) GACAGGATGGGAGGCACTGAC 0.547000 78 30 0 0 0.00283554 0 0 TNR 7143 broad.mit.edu 37 1 175372391 175372391 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:175372391G>A uc001gkp.1 - 1 942 c.861C>T c.(859-861)taC>taT p.Y287Y TNR_uc009wwu.1_Silent_p.Y287Y|TNR_uc010pmz.1_Silent_p.Y287Y NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 287 Cys-rich.|EGF-like 4. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.G286C(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CCTCACCAACGTAGCCCTCCT 0.627000 24 16 0 0 0.00074312 0 0 OR56A3 390083 broad.mit.edu 37 11 5969065 5969065 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:5969065C>T uc010qzt.2 + 0 489 c.489C>T c.(487-489)atC>atT p.I163I NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA. 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCTGCCCATCCCCATCCTTT 0.443000 56 24 0 0 0.00278032 0 0 SLC9C1 285335 broad.mit.edu 37 3 111927151 111927151 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:111927151C>T uc003dyu.3 - 15 2082 c.1860G>A c.(1858-1860)gtG>gtA p.V620V SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Silent_p.V572V NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA. 620 Ion transport-like. cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TCATTAATATCACAAGGTATC 0.294000 143 45 0 0 0.00361006 0 0 PTPRB 5787 broad.mit.edu 37 12 70953309 70953309 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:70953309C>T uc001swb.4 - 15 3904 c.3874G>A c.(3874-3876)Gac>Aac p.D1292N PTPRB_uc010sto.2_Missense_Mutation_p.D1202N|PTPRB_uc010stp.2_Missense_Mutation_p.D1202N|PTPRB_uc001swc.4_Missense_Mutation_p.D1510N|PTPRB_uc001swa.4_Missense_Mutation_p.D1422N|PTPRB_uc001swd.4_Missense_Mutation_p.D1509N|PTPRB_uc009zrr.2_Missense_Mutation_p.D1389N NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1292 Fibronectin type-III 15. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGCTCAAAGTCGTTGTAGTCT 0.498000 85 44 0 0 0.00361006 0 0 OR8K5 219453 broad.mit.edu 37 11 55927378 55927378 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:55927378C>T uc010rja.2 - 0 416 c.416G>A c.(415-417)cGa>cAa p.R139Q NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA. 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) ATGACACAGTCGCTGAGACAT 0.403000 39 39 0 0 0.00170553 0 0 C12orf49 79794 broad.mit.edu 37 12 117155666 117155666 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:117155666G>A uc001tvz.1 - 4 705 c.567C>T c.(565-567)ccC>ccT p.P189P C12orf49_uc009zwm.1_Silent_p.P159P NM_024738 NP_079014 Q9H741 CL049_HUMAN Homo sapiens chromosome 12 open reading frame 49 (C12orf49), mRNA. 189 extracellular region endometrium(1)|lung(1)|ovary(1)|skin(1) 4 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0281) ACTTTGCTATGGGGTCCCGGT 0.587000 16 9 0 0 0.00185496 0 0 CLU 1191 broad.mit.edu 37 8 27462697 27462697 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:27462697G>A uc003xfy.2 - 4 753 c.606C>T c.(604-606)ttC>ttT p.F202F CLU_uc003xfw.2_Silent_p.F191F|CLU_uc003xfx.2_Silent_p.F191F|CLU_uc003xfz.2_Silent_p.F191F NM_001831 NP_001822 P10909 CLUS_HUMAN Homo sapiens clusterin (CLU), transcript variant 1, mRNA. 191 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) ACCTGTCCTGGAAGAGCTCGT 0.612000 23 6 0 0 0.00307968 0 0 PTPRU 10076 broad.mit.edu 37 1 29642641 29642641 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:29642641C>T uc001bru.3 + 24 3650 c.3521C>T c.(3520-3522)tCc>tTc p.S1174F PTPRU_uc009vtq.3_Missense_Mutation_p.S1170F|PTPRU_uc009vtr.3_Missense_Mutation_p.S1161F|PTPRU_uc001brw.3_Missense_Mutation_p.S1164F NM_005704 NP_005695 Q92729 PTPRU_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA. 1174 canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) AGTAATTCCTCCCAGCTGCGG 0.547000 33 7 0 0 0.00307968 0 0 TSSC1 7260 broad.mit.edu 37 2 3341912 3341912 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:3341912G>A uc002qxj.2 - 2 328 c.135C>T c.(133-135)atC>atT p.I45I NM_003310 NP_003301 Q53HC9 TSSC1_HUMAN Homo sapiens tumor suppressing subtransferable candidate 1 (TSSC1), mRNA. 45 protein binding breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 18 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) CAAAATCTATGATATGGATCT 0.388000 20 16 0 0 0.00400662 0 0 GLRA1 2741 broad.mit.edu 37 5 151202326 151202326 + Missense_Mutation SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:151202326G>T uc003lut.3 - 8 1569 c.1282C>A c.(1282-1284)Cgc>Agc p.R428S GLRA1_uc003lur.3_Missense_Mutation_p.R420S|GLRA1_uc003lus.3_Missense_Mutation_p.R337S NM_001146040 NP_001139512 P23415 GLRA1_HUMAN Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA. 428 R -> H (in STHE). muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AAGCCAATGCGGGATATTTTG 0.502000 80 6 0.00198382 0.00617672 0.00198382 1 0 FECH 2235 broad.mit.edu 37 18 55221578 55221578 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:55221578G>A uc002lgq.4 - 8 1108 c.991C>T c.(991-993)Ctc>Ttc p.L331F FECH_uc002lgp.4_Missense_Mutation_p.L337F|FECH_uc002lgr.4_Missense_Mutation_p.L189F NM_000140 NP_000131 P22830 HEMH_HUMAN Homo sapiens ferrochelatase (FECH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 331 generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus mitochondrial inner membrane|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 15 Colorectal(73;0.227) GGAACCAAGAGGATATTCTTC 0.463000 107 40 0 0 0.00128727 0 0 CNR1 1268 broad.mit.edu 37 6 88854839 88854839 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:88854839G>A uc010kbz.3 - 1 285 c.155C>T c.(154-156)tCc>tTc p.S52F CNR1_uc011dzr.2_Missense_Mutation_p.S52F|CNR1_uc011dzs.2_Missense_Mutation_p.S52F|CNR1_uc003pmq.4_Missense_Mutation_p.S52F|CNR1_uc011dzt.2_Missense_Mutation_p.S52F|CNR1_uc010kca.3_Intron|CNR1_uc021zco.1_Missense_Mutation_p.S52F NM_016083 NP_057167 P21554 CNR1_HUMAN Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA. 52 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) TCCCCTAAAGGAAGTTAAAGG 0.468000 33 11 0 0 0.000978159 0 0 TTC21A 199223 broad.mit.edu 37 3 39171798 39171798 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:39171798C>T uc003cjc.2 + 16 2466 c.2289C>T c.(2287-2289)tcC>tcT p.S763S TTC21A_uc011ayx.1_Silent_p.S715S|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc011ayy.2_5'Flank|TTC21A_uc003cjf.2_5'Flank NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA. 763 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) ATGACGCCTCCCTGGCCAGCA 0.597000 8 9 0 0 0.000978159 0 0 SLC43A3 29015 broad.mit.edu 37 11 57182185 57182185 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:57182185G>A uc010rjr.2 - 10 1344 c.1002C>T c.(1000-1002)gcC>gcT p.A334A SLC43A3_uc001nke.3_Silent_p.A220A|SLC43A3_uc001nkg.3_Silent_p.A321A|SLC43A3_uc001nkh.3_Silent_p.A321A|SLC43A3_uc009yme.3_Silent_p.A321A|SLC43A3_uc001nki.3_Silent_p.A321A|SLC43A3_uc009ymf.1_Silent_p.A321A NM_199329 NP_955361 Q8NBI5 S43A3_HUMAN Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA. 321 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 TGAAGGCAAAGGCATTTGTGT 0.522000 80 62 0 0 0.00361006 0 0 ALG5 29880 broad.mit.edu 37 13 37573378 37573378 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:37573378G>A uc001uvy.3 - 0 127 c.60C>T c.(58-60)ctC>ctT p.L20L ALG5_uc010teq.2_Silent_p.L20L|ALG5_uc010ter.2_Non-coding_Transcript|EXOSC8_uc001uvz.2_5'Flank|EXOSC8_uc001uwa.3_5'Flank NM_013338 NP_037470 Q9Y673 ALG5_HUMAN Homo sapiens asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) (ALG5), transcript variant 1, mRNA. 20 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) TCACCAGTACGAGGGCTGCGG 0.697000 18 12 0 0 0.00316338 0 0 CELF4 56853 broad.mit.edu 37 18 34853055 34853055 + Silent SNP G A A rs150488058 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:34853055G>A uc002lae.2 - 6 1269 c.873C>T c.(871-873)ttC>ttT p.F291F CELF4_uc021uix.1_Silent_p.F289F|CELF4_uc021uiy.1_Silent_p.F290F|CELF4_uc002lag.2_Silent_p.F281F|CELF4_uc002laf.2_Silent_p.F286F|CELF4_uc002lai.2_Silent_p.F276F|CELF4_uc002lah.2_Silent_p.F16F|CELF4_uc002laj.1_Missense_Mutation_p.R127C NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA. 291 Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 GGGCGGCAGCGAAGGCAGCCA 0.632000 34 16 0 0 0.000566183 0 0 LILRA1 11024 broad.mit.edu 37 19 55087437 55087437 + Silent SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55087437A>G uc010ern.3 + 6 1585 c.1116A>G c.(1114-1116)caA>caG p.Q372Q LILRA1_uc002qgg.4_Silent_p.Q372Q|LILRA1_uc002qgf.3_Silent_p.Q372Q|LILRA1_uc010yfe.1_Silent_p.Q372Q|LILRA1_uc010yff.1_Silent_p.Q360Q|LILRA1_uc010ero.3_Silent_p.Q360Q|LILRA1_uc010yfg.1_Intron O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA. 374 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CAGAGCACCAAGCTCAGCAGA 0.597000 39 12 0 0 0.00185496 0 0 APOBR 55911 broad.mit.edu 37 16 28507365 28507365 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:28507365G>A uc002dqb.2 + 1 1036 c.1003G>A c.(1003-1005)Gag>Aag p.E335K NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_5'UTR NM_018690 NP_061160 Q0VD83 APOBR_HUMAN Homo sapiens apolipoprotein B receptor (APOBR), mRNA. 335 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 CTCGGGAGGGGAGGAGGCCGG 0.716000 12 5 0 0 0.00116845 0 0 CES5A 221223 broad.mit.edu 37 16 55880590 55880590 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:55880590G>A uc021tir.1 - 13 1734 c.1588C>T c.(1588-1590)Cct>Tct p.P530S CES5A_uc002eip.2_Missense_Mutation_p.P501S|CES5A_uc002eio.2_Missense_Mutation_p.P451S|CES5A_uc002eiq.2_Missense_Mutation_p.P262S|CES5A_uc002eir.2_Missense_Mutation_p.P395S NM_001190158 NP_001177087 Q6NT32 EST5A_HUMAN Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA. 501 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TTCCCATTAGGATTCCTAGAA 0.542000 87 17 0 0 0.00400662 0 0 SLC17A1 6568 broad.mit.edu 37 6 25819814 25819814 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:25819814T>C uc003nfh.4 - 4 570 c.454A>G c.(454-456)Aca>Gca p.T152A SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Missense_Mutation_p.T152A|SLC17A1_uc010jqc.1_Missense_Mutation_p.T150A NM_005074 NP_005065 Q14916 NPT1_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA. 152 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 AACTGGGCTGTTGCAACTATC 0.378000 56 16 0 0 0.00400662 0 0 PRSS35 167681 broad.mit.edu 37 6 84234178 84234178 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:84234178G>A uc003pjz.3 + 1 1258 c.1018G>A c.(1018-1020)Gat>Aat p.D340N PRSS35_uc010kbm.3_Missense_Mutation_p.D340N|PRSS35_uc021zce.1_Missense_Mutation_p.D340N NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA. 340 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) CCAATACTGCGATGCTGAGTC 0.488000 71 23 0 0 0.000878237 0 0 CFTR 1080 broad.mit.edu 37 7 117232021 117232021 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:117232021G>A uc003vjd.3 + 13 1932 c.1800G>A c.(1798-1800)agG>agA p.R600R CFTR_uc011knq.2_Silent_p.R6R NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 600 ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) ACAAAACTAGGATTTTGGTCA 0.279000 Cystic Fibrosis 97 38 0 0 0.00361006 0 0 KIAA0368 23392 broad.mit.edu 37 9 114136276 114136276 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:114136276G>A uc004bfe.1 - 39 4687 c.4687C>T c.(4687-4689)Cct>Tct p.P1563S NM_001080398 NP_001073867 Homo sapiens KIAA0368 (KIAA0368), mRNA. NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 AGGTCCTGAGGACACTGAGTA 0.428000 76 63 0 0 0.00361006 0 0 CYP4F3 4051 broad.mit.edu 37 19 15758116 15758116 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:15758116G>A uc010xok.2 + 4 557 c.507G>A c.(505-507)gaG>gaA p.E169E CYP4F3_uc010xol.2_Silent_p.E169E|CYP4F3_uc002nbj.3_Silent_p.E169E|CYP4F3_uc010xom.2_Silent_p.E20E|CYP4F3_uc002nbk.3_Silent_p.E169E|CYP4F3_uc010xon.2_5'Flank NM_001199208 NP_001186137 Q08477 CP4F3_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA. 169 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TTTTCAATGAGAGTGTGAACA 0.502000 116 30 0 0 0.00327116 0 0 ALPP 250 broad.mit.edu 37 2 233244537 233244537 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:233244537C>T uc002vsq.3 + 4 713 c.548C>T c.(547-549)gCc>gTc p.A183V NM_001632 NP_001623 P05187 PPB1_HUMAN Homo sapiens alkaline phosphatase, placental (ALPP), mRNA. 183 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) GGCACCTACGCCCACACGGTG 0.627000 14 9 0 0 0.000442599 0 0 NOL4 8715 broad.mit.edu 37 18 31537410 31537410 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:31537410C>T uc010dmi.3 - 7 1606 c.1308G>A c.(1306-1308)aaG>aaA p.K436K NOL4_uc010xbs.2_Silent_p.K151K|NOL4_uc002kxr.4_Intron|NOL4_uc010xbt.2_Silent_p.K362K|NOL4_uc010dmh.3_Intron|NOL4_uc010xbu.2_Intron|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Intron NM_003787 NP_001185478 O94818 NOL4_HUMAN Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA. 436 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TAGCCTGGATCTTTTCTTTGG 0.478000 47 13 0 0 0.00185496 0 0 ACBD4 79777 broad.mit.edu 37 17 43216425 43216425 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:43216425G>A uc002iid.2 + 8 1021 c.677G>A c.(676-678)tGg>tAg p.W226* ACBD4_uc010wjj.2_Nonsense_Mutation_p.W242*|ACBD4_uc002iie.3_Nonsense_Mutation_p.W242*|ACBD4_uc002iif.3_Silent_p.L229L|ACBD4_uc002iic.3_Silent_p.L229L|ACBD4_uc010dae.3_Nonsense_Mutation_p.W164* NM_001135707 NP_001129179 Q8NC06 ACBD4_HUMAN Homo sapiens acyl-CoA binding domain containing 4 (ACBD4), transcript variant 5, mRNA. 226 fatty-acyl-CoA binding kidney(1)|lung(3)|ovary(1) 5 CCCAGGAGTTGGACGTGTGGC 0.687000 29 29 0 0 0.00327116 0 0 ZYX 7791 broad.mit.edu 37 7 143079425 143079425 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:143079425C>T uc003wcx.3 + 2 451 c.293C>T c.(292-294)cCc>cTc p.P98L ZYX_uc011ktd.2_5'UTR|ZYX_uc003wcw.3_Missense_Mutation_p.P98L|ZYX_uc011kte.2_Missense_Mutation_p.P98L|ZYX_uc011ktf.2_5'UTR NM_003461 NP_003452 Q15942 ZYX_HUMAN Homo sapiens zyxin (ZYX), transcript variant 1, mRNA. 98 Pro-rich. cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1) 17 Melanoma(164;0.205) CCGCCCCCTCCCCCGATCGAG 0.677000 23 8 0 0 0.000442599 0 0 RP1L1 94137 broad.mit.edu 37 8 10470341 10470341 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:10470341G>A uc003wtc.3 - 3 1496 c.1267C>T c.(1267-1269)Cgg>Tgg p.R423W NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 423 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CACCTCTTCCGAGCTGCCACT 0.667000 38 12 0 0 0.000566183 0 0 PLXDC2 84898 broad.mit.edu 37 10 20453483 20453483 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:20453483C>T uc001iqg.1 + 6 1507 c.870C>T c.(868-870)atC>atT p.I290I PLXDC2_uc001iqh.1_Silent_p.I241I|PLXDC2_uc009xkc.1_Non-coding_Transcript NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN Homo sapiens plexin domain containing 2 (PLXDC2), mRNA. 290 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 TCCACAGGATCCAACAAATTC 0.448000 21 17 0 0 0.000958276 0 0 CDH10 1008 broad.mit.edu 37 5 24537681 24537681 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:24537681G>A uc003jgr.2 - 2 840 c.334C>T c.(334-336)Cat>Tat p.H112Y CDH10_uc011cnu.2_Non-coding_Transcript NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA. 112 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.H112Y(2) 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) CTTGTGGCATGAATATCACCT 0.403000 HNSCC(23;0.051) 80 20 0 0 0.00152264 0 0 RBPJ 3516 broad.mit.edu 37 4 26417130 26417130 + Missense_Mutation SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:26417130G>T uc003grx.2 + 4 464 c.228G>T c.(226-228)atG>atT p.M76I RBPJ_uc003gry.2_Missense_Mutation_p.M61I|RBPJ_uc003grz.2_Missense_Mutation_p.M76I|RBPJ_uc011bxt.2_Missense_Mutation_p.M76I|RBPJ_uc003gsa.2_Missense_Mutation_p.M62I|RBPJ_uc003gsb.2_Missense_Mutation_p.M63I NM_005349 NP_005340 Q06330 SUH_HUMAN Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA. 76 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) TATATCTTATGGGCAGTGGAT 0.363000 106 6 0.00116845 0.00365189 0.00116845 1 0 WDTC1 23038 broad.mit.edu 37 1 27618754 27618754 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:27618754C>T uc009vst.2 + 6 1063 c.528C>T c.(526-528)gaC>gaT p.D176D WDTC1_uc001bno.3_Silent_p.D176D|WDTC1_uc001bnp.1_Non-coding_Transcript NM_015023 NP_055838 Q8N5D0 WDTC1_HUMAN Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA. 176 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) TGCTGATTGACCTGACAGAGT 0.577000 68 15 0 0 0.00400662 0 0 ADAM7 8756 broad.mit.edu 37 8 24339764 24339764 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:24339764C>T uc003xeb.3 + 8 928 c.815C>T c.(814-816)tCa>tTa p.S272L ADAM7_uc003xec.3_Missense_Mutation_p.S44L NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 272 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TTGCGTTTTTCATTTTGGCAA 0.338000 72 28 0 0 0.000720815 0 0 CYP2S1 29785 broad.mit.edu 37 19 41704646 41704646 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:41704646C>T uc002opw.3 + 4 742 c.687C>T c.(685-687)ccC>ccT p.P229P CYP2S1_uc010xvx.2_Intron NM_030622 NP_085125 Q96SQ9 CP2S1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA. 229 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 TCCTGCGGCCCCTGCCAGGCC 0.617000 71 26 0 0 0.001512 0 0 ANTXR1 84168 broad.mit.edu 37 2 69240670 69240670 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:69240670C>T uc002sfg.3 + 0 395 c.39C>T c.(37-39)ttC>ttT p.F13F ANTXR1_uc002sfe.3_Silent_p.F13F|ANTXR1_uc002sff.3_Silent_p.F13F|ANTXR1_uc002sfd.2_Silent_p.F13F NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA. 13 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 GCATCGGCTTCCAGTGGCTCT 0.692000 Familial Infantile Hemangioma 10 6 0 0 0.00198382 0 0 CYP4A11 1579 broad.mit.edu 37 1 47402383 47402383 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:47402383G>A uc001cqp.4 - 3 514 c.463C>T c.(463-465)Ctg>Ttg p.L155L CYP4A11_uc001cqq.2_Silent_p.L155L|CYP4A11_uc010omm.1_Non-coding_Transcript NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 155 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TAGGGCTTCAGGATGTCATAG 0.547000 44 29 0 0 0.00178596 0 0 ACACA 31 broad.mit.edu 37 17 35578713 35578713 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:35578713G>A uc002hnm.3 - 28 3695 c.3504C>T c.(3502-3504)caC>caT p.H1168H ACACA_uc002hnk.3_Silent_p.H1090H|ACACA_uc002hnl.3_Silent_p.H1110H|ACACA_uc002hnn.3_Silent_p.H1168H|ACACA_uc002hno.3_Silent_p.H1205H|ACACA_uc010cuz.3_Silent_p.H1168H NM_198836 NP_942135 Q13085 ACACA_HUMAN Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA. 1168 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TAAGCTGGCGGTGTTGTACGC 0.438000 77 21 0 0 0.00229938 0 0 MUC16 94025 broad.mit.edu 37 19 8999533 8999534 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:8999533_8999534CC>TT uc002mkp.3 - 55 40845_40846 c.40641_40642GG>AA c.(40639-40644)gtggat>gtAAat p.D13548N MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.D365N|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13550 SEA 10. Missing (in Ref. 3; AAK74120). 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 CAGATGGCATCCACTTTGGTGG 0.584000 34 12 0 0 6.4e-05 0 0 TTN 7273 broad.mit.edu 37 2 179554320 179554320 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179554320G>A uc021vsy.1 - 119 28342 c.28117C>T c.(28117-28119)Cct>Tct p.P9373S TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6034S|TTN_uc010fre.1_Missense_Mutation_p.P484S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 10300 Ig-like 77. 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) TGTACTTCAGGAACTTGAAGA 0.368000 23 7 0 0 0.00307968 0 0 FOXD4 2298 broad.mit.edu 37 9 117520 117520 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:117520G>A uc003zfz.3 - 0 898 c.600C>T c.(598-600)ttC>ttT p.F200F NM_207305 NP_997188 Q12950 FOXD4_HUMAN Homo sapiens forkhead box D4 (FOXD4), mRNA. 200 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GGTGGCGCTGGAAACGCTTCC 0.692000 62 54 0 0 0.00361006 0 0 ZIC2 7546 broad.mit.edu 37 13 100635374 100635374 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:100635374C>T uc001von.3 + 0 1349 c.1056C>T c.(1054-1056)atC>atT p.I352I NM_007129 NP_009060 O95409 ZIC2_HUMAN Homo sapiens Zic family member 2 (ZIC2), mRNA. 352 brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I352V(1) large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ACCTCAAGATCCACAAAAGGA 0.642000 31 12 0 0 0.00185496 0 0 CRYGN 155051 broad.mit.edu 37 7 151127230 151127230 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:151127230G>A uc003wke.3 - 3 549 c.453C>T c.(451-453)ttC>ttT p.F151F CRYGN_uc003wkf.3_3'UTR|CRYGN_uc003wkg.3_Non-coding_Transcript NM_144727 NP_653328 Q8WXF5 CRGN_HUMAN Homo sapiens crystallin, gamma N (CRYGN), mRNA. 151 central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4) 8 OV - Ovarian serous cystadenocarcinoma(82;0.00358) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCTCAGCTGGAAGTCCTCAG 0.562000 40 30 0 0 0.001512 0 0 ZNF800 168850 broad.mit.edu 37 7 127013995 127013995 + Silent SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:127013995A>T uc010lla.2 - 4 2107 c.1395T>A c.(1393-1395)gcT>gcA p.A465A ZNF800_uc003vlw.1_Silent_p.A368A|ZNF800_uc003vlx.1_Silent_p.A465A|ZNF800_uc003vly.1_Silent_p.A465A NM_176814 NP_789784 Q2TB10 ZN800_HUMAN Homo sapiens zinc finger protein 800 (ZNF800), mRNA. 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 GGCCACCTGCAGCCGACGGAC 0.388000 72 44 0 0 0.00361006 0 0 C12orf26 84190 broad.mit.edu 37 12 82796878 82796878 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:82796878C>T uc001szq.3 + 4 1317 c.1248C>T c.(1246-1248)ctC>ctT p.L416L NM_032230 NP_115606 Q8N6Q8 CL026_HUMAN Homo sapiens chromosome 12 open reading frame 26 (C12orf26), mRNA. 416 breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 19 GCTACCACCTCTTATCTGAAG 0.373000 26 16 0 0 0.000566183 0 0 SLC4A8 9498 broad.mit.edu 37 12 51883546 51883546 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:51883546C>T uc001rys.1 + 18 2689 c.2511C>T c.(2509-2511)atC>atT p.I837I SLC4A8_uc001rym.3_Silent_p.I784I|SLC4A8_uc001ryn.3_Silent_p.I784I|SLC4A8_uc001ryo.2_Silent_p.I784I|SLC4A8_uc010snj.2_Silent_p.I864I|SLC4A8_uc001ryr.3_Silent_p.I837I NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA. 837 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) TCTGCTCCATCATGGGCCTGC 0.532000 62 21 0 0 0.00278032 0 0 AARS2 57505 broad.mit.edu 37 6 44275008 44275008 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:44275008A>T uc010jza.1 - 5 1021 c.1018T>A c.(1018-1020)Ttc>Atc p.F340I TMEM151B_uc003oxg.3_Non-coding_Transcript|TMEM151B_uc003oxf.2_3'UTR NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA. 340 alanyl-tRNA aminoacylation mitochondrion ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) ATCCCAGGGAAGATGCCATCA 0.642000 17 8 0 0 0.000442599 0 0 OR13D1 286365 broad.mit.edu 37 9 107457211 107457211 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:107457211G>A uc011lvs.2 + 0 509 c.509G>A c.(508-510)gGa>gAa p.G170E NM_001004484 NP_001004484 Q8NGV5 O13D1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA. 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 ATCATGAACGGAGTGCTGTAT 0.512000 77 38 0 0 0.00111076 0 0 MYH15 22989 broad.mit.edu 37 3 108195301 108195301 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:108195301G>A uc003dxa.1 - 12 1293 c.1236C>T c.(1234-1236)atC>atT p.I412I NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 412 Myosin head-like. myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TTCTAGGATGGATCAAGCACT 0.388000 33 14 0 0 0.00185496 0 0 FTSJ3 117246 broad.mit.edu 37 17 61903470 61903470 + Silent SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:61903470A>G uc002jbz.3 - 3 324 c.246T>C c.(244-246)ccT>ccC p.P82P FTSJ3_uc002jca.3_Silent_p.P82P|PSMC5_uc002jcb.3_5'Flank|PSMC5_uc010ddy.3_5'Flank|PSMC5_uc002jcd.3_5'Flank NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA. 82 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 CATTGGGGAGAGGCTTGATTG 0.468000 104 97 0 0 0.00361006 0 0 SLC44A5 204962 broad.mit.edu 37 1 75681480 75681480 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:75681480C>T uc010oqz.1 - 17 1870 c.1804G>A c.(1804-1806)Gaa>Aaa p.E602K SLC44A5_uc001dgt.2_Missense_Mutation_p.E563K|SLC44A5_uc001dgs.2_Missense_Mutation_p.E521K|SLC44A5_uc001dgr.2_Missense_Mutation_p.E521K|SLC44A5_uc001dgu.3_Missense_Mutation_p.E563K|SLC44A5_uc010ora.2_Missense_Mutation_p.E557K|SLC44A5_uc010orb.2_Missense_Mutation_p.E433K NM_001130058 NP_001123530 Q8NCS7 CTL5_HUMAN Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA. 563 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 ATTGCATTTTCCAAACACCAG 0.338000 74 28 0 0 0.00375469 0 0 ECE2 9718 broad.mit.edu 37 3 184008848 184008849 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:184008848_184008849GG>AA uc003fni.4 + 16 2247_2248 c.2209_2210GG>AA c.(2209-2211)ggg>AAg p.G737K ECE2_uc011brh.1_Missense_Mutation_p.G590K|ECE2_uc003fnl.4_Missense_Mutation_p.G665K|ECE2_uc003fnm.4_Missense_Mutation_p.G619K|ECE2_uc003fnk.4_Missense_Mutation_p.G590K|ECE2_uc011bri.1_Missense_Mutation_p.G652K|ECE2_uc010hxv.3_3'UTR NM_014693 NP_055508 O60344 ECE2_HUMAN Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA. 737 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing Golgi membrane|cytoplasmic vesicle membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGACAAAGAAGGGAACCTGCGG 0.599000 54 13 0 0 6.4e-05 0 0 H19 283120 broad.mit.edu 37 11 2016494 2016494 + RNA SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:2016494G>A uc021qbx.1 - 0 c.310C>T H19_uc021qby.1_Non-coding_Transcript|H19_uc001lva.4_Non-coding_Transcript|H19_uc021qbz.1_Non-coding_Transcript Homo sapiens PRO2605 mRNA, complete cds. GGGCGTAATGGAATGCTTGAA 0.617000 Beckwith-Wiedemann syndrome 31 11 0 0 0.000673444 0 0 TRIM71 131405 broad.mit.edu 37 3 32932742 32932742 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:32932742C>T uc003cff.3 + 3 2109 c.2046C>T c.(2044-2046)ttC>ttT p.F682F NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN Homo sapiens tripartite motif containing 71 (TRIM71), mRNA. 682 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCTTCACGTTCGAGGGCCAGT 0.577000 15 19 0 0 0.000958276 0 0 SPON1 10418 broad.mit.edu 37 11 14276093 14276093 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:14276093G>A uc001mle.3 + 8 1175 c.907G>A c.(907-909)Gaa>Aaa p.E303K NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA. 304 Spondin. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) ACCTTCAGCTGAATTTTCCGT 0.493000 28 13 0 0 0.00400662 0 0 OSBP2 23762 broad.mit.edu 37 22 31091508 31091508 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:31091508C>T uc003aiy.1 + 0 716 c.612C>T c.(610-612)ttC>ttT p.F204F OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Silent_p.F204F|OSBP2_uc011alb.1_Silent_p.F204F|OSBP2_uc003aiz.1_Silent_p.F204F NM_030758 NP_110385 Q969R2 OSBP2_HUMAN Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA. 204 PH. 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 GCCGCTGGTTCGTGCTGGGCA 0.602000 59 23 0 0 0.000878237 0 0 LCE1B 353132 broad.mit.edu 37 1 152785068 152785068 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:152785068G>A uc001faq.3 + 0 622 c.146G>A c.(145-147)gGa>gAa p.G49E NM_178349 NP_848126 Q5T7P3 LCE1B_HUMAN Homo sapiens late cornified envelope 1B (LCE1B), mRNA. 49 Gly-rich. keratinization p.G49*(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GTCAGCTCCGGAGGCTGCTGT 0.647000 57 33 0 0 0.00111076 0 0 MEGF8 1954 broad.mit.edu 37 19 42861645 42861645 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:42861645C>T uc002otl.4 + 26 5354 c.4719C>T c.(4717-4719)tcC>tcT p.S1573S MEGF8_uc002otm.4_Silent_p.S1181S NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA. 1640 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GCGGTTACTCCCCGGAAAATG 0.667000 31 9 0 0 0.000673444 0 0 CD33 945 broad.mit.edu 37 19 51729165 51729165 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:51729165G>A uc002pwa.2 + 2 565 c.525G>A c.(523-525)ccG>ccA p.P175P CD33_uc010eos.1_Silent_p.P175P|CD33_uc010eot.1_Silent_p.P48P|CD33_uc010eou.1_Non-coding_Transcript NM_001772 NP_001763 P20138 CD33_HUMAN Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA. 175 Ig-like C2-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) GAACACCCCCGATCTTCTCCT 0.627000 46 23 0 0 0.00229938 0 0 CUL4A 8451 broad.mit.edu 37 13 113899312 113899312 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:113899312C>T uc021rmv.1 + 12 1394 c.1383C>T c.(1381-1383)ctC>ctT p.L461L CUL4A_uc021rmu.1_Silent_p.L361L|CUL4A_uc010agu.3_Silent_p.L322L|CUL4A_uc010tjz.2_Silent_p.L140L NM_001008895 NP_003580 Q13619 CUL4A_HUMAN Homo sapiens cullin 4A (CUL4A), transcript variant 1, mRNA. 461 DNA repair|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) CAAAAAGACTCCTTGTTGGGA 0.403000 39 23 0 0 0.000878237 0 0 SBDSP1 155370 broad.mit.edu 37 7 72302357 72302357 + RNA SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:72302357C>A uc003twf.3 + 2 c.709C>A SBDSP1_uc011kel.2_Non-coding_Transcript|SBDSP1_uc003twg.3_Non-coding_Transcript|SBDSP1_uc003twh.3_Non-coding_Transcript Homo sapiens Shwachman-Bodian-Diamond syndrome pseudogene 1 (SBDSP1), transcript variant 3, non-coding RNA. TGGTGAAAACCAACAGGAGTA 0.398000 96 6 0.00307968 0.00956451 0.00307968 1 0 PSD3 23362 broad.mit.edu 37 8 18729234 18729234 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:18729234G>A uc003wza.3 - 2 1243 c.1140C>T c.(1138-1140)tcC>tcT p.S380S NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA. 380 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) GACGCACAGGGGAAAATGTCC 0.468000 31 16 0 0 0.000566183 0 0 XIRP2 129446 broad.mit.edu 37 2 168104261 168104261 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:168104261C>T uc002udx.3 + 8 6448 c.6359C>T c.(6358-6360)aCc>aTc p.T2120I XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.T1945I|XIRP2_uc010fpq.3_Missense_Mutation_p.T1898I|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1945 Pro-rich. 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 GCTGGTAAAACCGTTGGAAAG 0.353000 37 9 0 0 0.000442599 0 0 FRA10AC1 118924 broad.mit.edu 37 10 95454674 95454674 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:95454674G>A uc001kiz.2 - 4 438 c.240C>T c.(238-240)ttC>ttT p.F80F FRA10AC1_uc001kiv.2_Non-coding_Transcript|FRA10AC1_uc001kjb.1_Silent_p.F80F|FRA10AC1_uc009xuh.1_Silent_p.F81F NM_145246 NP_660289 Q70Z53 F10C1_HUMAN Homo sapiens fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 (FRA10AC1), mRNA. 80 nucleus protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1) 14 AGTCATTTACGAACTTTGTAT 0.333000 83 52 0 0 0.00361006 0 0 C12orf35 55196 broad.mit.edu 37 12 32137752 32137752 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:32137752C>T uc001rks.3 + 3 4277 c.3863C>T c.(3862-3864)cCc>cTc p.P1288L NM_018169 NP_060639 Q9HCM1 CL035_HUMAN Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA. 1288 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 59 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) AAACTAAATCCCTTGCAAAAT 0.343000 30 7 0 0 0.00198382 0 0 TCF21 6943 broad.mit.edu 37 6 134210846 134210846 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:134210846C>T uc003qei.4 + 0 588 c.311C>T c.(310-312)aCc>aTc p.T104I BC041459_uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.T104I NM_003206 NP_938206 O43680 TCF21_HUMAN Homo sapiens transcription factor 21 (TCF21), transcript variant 2, mRNA. 104 Helix-loop-helix motif. branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus E-box binding|androgen receptor binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) AGACTCAAGACCACCCTGCCC 0.667000 61 20 0 0 0.00121646 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41004875 41004875 + Splice_Site SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:41004875C>T uc003jmj.4 - 36 4501 c.4011_splice c.e36+1 p.K1337_splice HEATR7B2_uc003jmi.4_Splice_Site_p.K892_splice NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 1337 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 ACGCCTTTTACCTTGTGAGGA 0.458000 49 23 0 0 0.000720815 0 0 OR52D1 390066 broad.mit.edu 37 11 5510709 5510709 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:5510709C>T uc010qzg.2 + 0 795 c.773C>T c.(772-774)gCc>gTc p.A258V HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA. 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A258T(1) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACATCCCTGCCTTCTTCTCC 0.517000 44 27 0 0 0.00106085 0 0 AURKC 6795 broad.mit.edu 37 19 57743539 57743539 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:57743539G>A uc002qoe.3 + 2 432 c.243G>A c.(241-243)aaG>aaA p.K81K AURKC_uc002qoc.3_Silent_p.K62K|AURKC_uc002qod.3_Silent_p.K47K|AURKC_uc010etv.3_Silent_p.K78K NM_001015878 NP_003151 Q9UQB9 AURKC_HUMAN Homo sapiens aurora kinase C (AURKC), transcript variant 1, mRNA. 81 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) AGATAGAGAAGGAAGGACTGG 0.522000 32 11 0 0 0.000978159 0 0 TRIM69 140691 broad.mit.edu 37 15 45047536 45047536 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:45047536G>A uc001zuf.2 + 2 1340 c.445G>A c.(445-447)Gag>Aag p.E149K TRIM69_uc001zug.1_Missense_Mutation_p.E149K|TRIM69_uc001zuh.1_Intron|TRIM69_uc001zui.1_Intron|TRIM69_uc010bdy.1_Intron NM_182985 NP_892030 Q86WT6 TRI69_HUMAN Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA. 149 Necessary for nuclear localization (By similarity). apoptosis nuclear speck zinc ion binding p.K148R(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1) 20 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) GCAGTCTAAGGAGTTCCTGCA 0.473000 18 14 0 0 0.00244969 0 0 FAM75E1 286234 broad.mit.edu 37 9 90500389 90500389 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:90500389G>A uc004app.4 + 3 1022 c.987G>A c.(985-987)cgG>cgA p.R329R FAM75E1_uc004apo.1_Silent_p.R141R NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA. 329 integral to membrane CCCAGCCACGGCATCTTCCCG 0.612000 32 9 0 0 0.000274275 0 0 ADAM28 10863 broad.mit.edu 37 8 24201064 24201064 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:24201064C>T uc003xdy.3 + 17 2040 c.1957C>T c.(1957-1959)Cct>Tct p.P653S ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.P340S NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 653 EGF-like. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AGGATGGATCCCTCCCGACTG 0.483000 35 13 0 0 0.00400662 0 0 HCN3 57657 broad.mit.edu 37 1 155252280 155252281 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:155252280_155252281GG>AA uc001fjz.1 + 1 365_366 c.357_358GG>AA c.(355-360)aaggag>aaAAag p.E120K HCN3_uc010pfz.1_5'UTR NM_020897 NP_065948 Q9P1Z3 HCN3_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA. 120 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 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) CCTTCTTCAAGGAGGAGAACTC 0.535000 45 17 0 0 6.4e-05 0 0 CDH10 1008 broad.mit.edu 37 5 24488091 24488091 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:24488091T>C uc003jgr.2 - 11 2554 c.2048A>G c.(2047-2049)gAa>gGa p.E683G CDH10_uc011cnu.2_Non-coding_Transcript NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA. 683 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E682G(1) 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) GAGCTTTTTTTCCTCAATGGC 0.478000 HNSCC(23;0.051) 47 26 0 0 0.00106085 0 0 SSH1 54434 broad.mit.edu 37 12 109182305 109182305 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:109182305G>A uc001tnm.3 - 14 2696 c.2609C>T c.(2608-2610)cCc>cTc p.P870L SSH1_uc001tnl.3_Missense_Mutation_p.P558L NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA. 870 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CATAACCAGGGGGCCCAGCTC 0.667000 31 15 0 0 0.00316338 0 0 CSF3R 1441 broad.mit.edu 37 1 36941239 36941240 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:36941239_36941240GG>AA uc001caw.2 - 3 683_684 c.99_100CC>TT c.(97-102)gccccc>gcTTcc p.P34S CSF3R_uc001cav.2_Missense_Mutation_p.P34S|CSF3R_uc001cax.2_Missense_Mutation_p.P34S NM_000760 NP_000751 Q99062 CSF3R_HUMAN Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA. 34 Ig-like C2-type. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TGGACGATGGGGGCTGAGACAC 0.604000 17 14 0 0 6.4e-05 0 0 LIPJ 142910 broad.mit.edu 37 10 90362355 90362355 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:90362355C>T uc001kff.3 + 8 1060 c.746C>T c.(745-747)tCa>tTa p.S249L NM_001010939 NP_001010939 Q5W064 LIPJ_HUMAN Homo sapiens lipase, family member J (LIPJ), mRNA. 249 lipid catabolic process hydrolase activity large_intestine(4)|lung(4)|ovary(1) 9 all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222) Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05) GTGTATTTTTCACACAACCCA 0.313000 22 25 0 0 0.00283554 0 0 NRSN1 140767 broad.mit.edu 37 6 24134690 24134690 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:24134690G>A uc010jpq.1 + 2 372 c.135G>A c.(133-135)gaG>gaA p.E45E NM_080723 NP_542454 Q8IZ57 NRSN1_HUMAN Homo sapiens neurensin 1 (NRSN1), mRNA. 45 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle p.E45*(1) breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 GGGAGTATGAGGATGATTTCC 0.473000 39 7 0 0 0.00307968 0 0 OR4C12 283093 broad.mit.edu 37 11 50003394 50003394 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:50003394G>A uc010ria.2 - 0 678 c.644C>T c.(643-645)tCc>tTc p.S215F NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA. 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 GATCACATAGGATACCACCAA 0.388000 40 14 0 0 0.000566183 0 0 KCNQ3 3786 broad.mit.edu 37 8 133192458 133192458 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:133192458G>A uc003ytj.3 - 3 948 c.723C>T c.(721-723)gaC>gaT p.D241D KCNQ3_uc003yti.3_Silent_p.D121D|KCNQ3_uc010mdt.3_Silent_p.D241D NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 241 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) CACCTCTCCGGTCCATCCGCA 0.602000 52 14 0 0 0.00185496 0 0 IGSF10 285313 broad.mit.edu 37 3 151155338 151155338 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:151155338C>T uc011bod.2 - 5 7011 c.7011G>A c.(7009-7011)ccG>ccA p.P2337P IGSF10_uc011bob.2_Silent_p.P364P|IGSF10_uc011boc.2_Silent_p.P316P NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA. 2337 Ig-like C2-type 10. 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) TTCTAAATGTCGGTCTTCTCA 0.433000 73 24 0 0 0.00395357 0 0 PCDH15 65217 broad.mit.edu 37 10 55582522 55582522 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:55582522G>A uc010qhy.1 - 34 5380 c.4985C>T c.(4984-4986)tCt>tTt p.S1662F PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.S1657F|PCDH15_uc021pqz.1_Missense_Mutation_p.S1632F|PCDH15_uc010qhv.1_Missense_Mutation_p.S1652F|PCDH15_uc010qhw.1_Missense_Mutation_p.S1615F|PCDH15_uc010qhx.1_Missense_Mutation_p.S1586F|PCDH15_uc010qhz.1_Missense_Mutation_p.S1657F|PCDH15_uc010qia.1_Missense_Mutation_p.S1635F|PCDH15_uc001jju.1_Missense_Mutation_p.S1655F|PCDH15_uc010qib.1_Missense_Mutation_p.S1632F NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1655 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.S1661*(1)|p.S1661L(1) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGAAGAGAGAGATTTCAACTG 0.403000 HNSCC(58;0.16) 28 27 0 0 0.000878237 0 0 PALLD 23022 broad.mit.edu 37 4 169433098 169433098 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:169433098C>T uc011cjx.2 + 1 654 c.443C>T c.(442-444)cCc>cTc p.P148L PALLD_uc003iru.3_Missense_Mutation_p.P148L NM_001166108 NP_001159580 Q8WX93 PALLD_HUMAN Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA. 148 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GCAAAAACTCCCAGCACAAAC 0.527000 Pancreatic Cancer, Familial Clustering of 47 19 0 0 0.000958276 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30118226 30118226 + Silent SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:30118226A>G uc003taq.3 + 13 1785 c.1383A>G c.(1381-1383)ccA>ccG p.P461P PLEKHA8_uc022aba.1_Intron|PLEKHA8_uc003tan.3_Intron NM_001197026 NP_001183955 Q96JA3 PKHA8_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA. 461 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 GGGCAGCTCCATCCTATGAAG 0.453000 37 17 0 0 0.000958276 0 0 HAP1 9001 broad.mit.edu 37 17 39881380 39881380 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:39881380C>T uc002hxm.1 - 11 1601 c.1589G>A c.(1588-1590)cGa>cAa p.R530Q JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.R478Q|HAP1_uc002hxo.1_Missense_Mutation_p.R461Q|HAP1_uc002hxp.1_Missense_Mutation_p.R453Q NM_177977 NP_817084 P54257 HAP1_HUMAN Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA. 530 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) CACCTGCTCTCGATCCTCACT 0.607000 121 92 0 0 0.00361006 0 0 SLC9A2 6549 broad.mit.edu 37 2 103274324 103274324 + Silent SNP C T T rs139722927 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:103274324C>T uc002tca.3 + 1 733 c.591C>T c.(589-591)ttC>ttT p.F197F NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA. 197 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TCGAAGCATTCGGCCTCAGCG 0.488000 175 66 0 0 0.00361006 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151152181 151152181 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:151152181C>T uc011eem.1 + 14 2199 c.2111C>T c.(2110-2112)cCc>cTc p.P704L PLEKHG1_uc011eel.1_Missense_Mutation_p.P685L|PLEKHG1_uc003qny.1_Missense_Mutation_p.P645L|PLEKHG1_uc003qnz.2_Missense_Mutation_p.P645L NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA. 645 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GAGATGACTCCCTTTGGGTCA 0.458000 25 12 0 0 0.00244969 0 0 abParts 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:22664606A>G uc021wml.1 + 32 c.2706A>G abParts_uc011aiq.1_Non-coding_Transcript Parts of antibodies, mostly variable regions. GTCTTCATGCAAACTTGGTAT 0.398000 10 3 0 0 6.4e-05 0 0 CES1 1066 broad.mit.edu 37 16 55862811 55862811 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:55862811C>T uc002eim.3 - 1 233 c.125G>A c.(124-126)gGa>gAa p.G42E CES1_uc002eil.3_Missense_Mutation_p.G43E|CES1_uc002ein.3_Missense_Mutation_p.G42E NM_001025194 NP_001020365 P23141 EST1_HUMAN Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA. 42 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) CTGTGCAAATCCTTCTAAGCT 0.562000 31 6 0 0 0.00198382 0 0 DDX4 54514 broad.mit.edu 37 5 55111156 55111156 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:55111156C>T uc003jqg.4 + 20 2101 c.2002C>T c.(2002-2004)Cct>Tct p.P668S DDX4_uc010ivz.3_Missense_Mutation_p.P648S|DDX4_uc003jqh.4_Missense_Mutation_p.P634S|DDX4_uc003jqj.3_Missense_Mutation_p.P519S NM_024415 NP_077726 Q9NQI0 DDX4_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA. 668 Helicase C-terminal. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) ACAGGATGTTCCTGCATGGTT 0.343000 47 28 0 0 0.000878237 0 0 TRBV5-5 28610 broad.mit.edu 37 7 142149099 142149099 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:142149099G>A uc010lnw.1 - 1 254 c.172C>T c.(172-174)Ctg>Ttg p.L58L TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV5-5_uc022anh.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; CCCTGACCCAGGACCTGTTGG 0.498000 43 17 0 0 0.00074312 0 0 ABCA4 24 broad.mit.edu 37 1 94526287 94526287 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:94526287G>A uc001dqh.3 - 13 2070 c.1966C>T c.(1966-1968)Cct>Tct p.P656S ABCA4_uc010otn.1_Missense_Mutation_p.P656S NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 656 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) ATGAAGATAGGGAAACAGCGG 0.443000 17 15 0 0 0.00244969 0 0 HAO2 51179 broad.mit.edu 37 1 119927482 119927482 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:119927482G>A uc001ehr.1 + 3 499 c.367G>A c.(367-369)Ggc>Agc p.G123S HAO2_uc001ehq.1_Missense_Mutation_p.G123S NM_016527 NP_057611 Q9NYQ3 HAOX2_HUMAN Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA. 123 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) AGCTCCCGAAGGCCTCCGATG 0.493000 104 26 0 0 0.00332997 0 0 ESYT1 23344 broad.mit.edu 37 12 56527604 56527604 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:56527604C>T uc001sjr.3 + 12 1538 c.1420C>T c.(1420-1422)Ccc>Tcc p.P474S ESYT1_uc001sjq.3_Missense_Mutation_p.P474S NM_001184796 NP_001171725 Q9BSJ8 ESYT1_HUMAN Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA. 474 C2 2. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 TCGACCAGATCCCCCGTCAGC 0.562000 60 32 0 0 0.00128727 0 0 TFCP2L1 29842 broad.mit.edu 37 2 121989507 121989507 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:121989507C>T uc002tmx.3 - 12 1329 c.1236G>A c.(1234-1236)ttG>ttA p.L412L TFCP2L1_uc010flr.3_Intron|TFCP2L1_uc010flq.3_Intron NM_014553 NP_055368 Q9NZI6 TF2L1_HUMAN Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA. 412 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) CAATCAGCTCCAAGGTGGTCA 0.592000 54 22 0 0 0.00106085 0 0 abParts 0 broad.mit.edu 37 14 106653437 106653437 + RNA SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:106653437C>T uc021ser.1 - 1433 c.28782G>A Parts of antibodies, mostly variable regions. ACAGGAAGTTCCTGGAATTGT 0.522000 41 45 0 0 0.00361006 0 0 ASNS 440 broad.mit.edu 37 7 97498279 97498279 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:97498279C>T uc003uot.4 - 2 696 c.190G>A c.(190-192)Gtg>Atg p.V64M ASNS_uc011kin.2_Intron|ASNS_uc011kio.2_Missense_Mutation_p.V43M|ASNS_uc003uou.4_Missense_Mutation_p.V64M|ASNS_uc003uov.4_Missense_Mutation_p.V64M|ASNS_uc003uox.4_Intron NM_133436 NP_001171548 P08243 ASNS_HUMAN Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA. 64 Glutamine amidotransferase type-2. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction ATP binding|asparagine synthase (glutamine-hydrolyzing) activity ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TATTTCTTCACTCGAATTGGC 0.433000 30 15 0 0 0.00074312 0 0 SUGP2 10147 broad.mit.edu 37 19 19135663 19135663 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:19135663G>A uc002nkz.1 - 2 1556 c.1536C>T c.(1534-1536)atC>atT p.I512I SUGP2_uc002nkx.2_Silent_p.I498I|SUGP2_uc002nla.1_Silent_p.I498I|SUGP2_uc002nlb.2_Silent_p.I498I|SUGP2_uc010xqk.1_Silent_p.I267I NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA. 498 RNA splicing|mRNA processing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CAGCTTCTAAGATTTTCTCCT 0.507000 93 37 0 0 0.00111076 0 0 PRKCI 5584 broad.mit.edu 37 3 170013699 170013699 + Splice_Site SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:170013699T>A uc003fgs.2 + 15 1656 c.1418_splice c.e15-1 p.V473_splice PRKCI_uc003fgt.2_Splice_Site_p.V28_splice NM_002740 NP_002731 P41743 KPCI_HUMAN Homo sapiens protein kinase C, iota (PRKCI), mRNA. 473 Protein kinase. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) ATCTTTCTAGTTATTTTGGAA 0.303000 48 16 0 0 0.000566183 0 0 COL5A1 1289 broad.mit.edu 37 9 137717651 137717651 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:137717651C>T uc004cfe.3 + 62 5350 c.4968C>T c.(4966-4968)gtC>gtT p.V1656V BC058547_uc004cff.3_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 1656 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.V1656A(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AATACTGGGTCGATCCTAACC 0.557000 20 28 0 0 0.00127121 0 0 BANK1 55024 broad.mit.edu 37 4 102751320 102751320 + Silent SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:102751320A>G uc003hvy.4 + 1 700 c.426A>G c.(424-426)gaA>gaG p.E142E BANK1_uc003hvx.4_Silent_p.E127E|BANK1_uc010ill.3_Intron|BANK1_uc003hvz.4_Silent_p.E112E NM_017935 NP_001077376 Q8NDB2 BANK1_HUMAN Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA. 142 Interaction with ITPR2. B cell activation p.Q141P(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) CTGAACAGGAACCTGAAGACT 0.328000 45 16 0 0 0.000566183 0 0 ACSS3 79611 broad.mit.edu 37 12 81503382 81503382 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:81503382C>T uc001szl.1 + 1 446 c.355C>T c.(355-357)Cgt>Tgt p.R119C ACSS3_uc001szm.1_Missense_Mutation_p.R118C NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA. 119 mitochondrion ATP binding|acetate-CoA ligase activity p.R119C(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TGCCGTTGATCGTCATATTGA 0.338000 46 22 0 0 0.00229938 0 0 ABCA13 154664 broad.mit.edu 37 7 48313737 48313737 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:48313737C>T uc003toq.2 + 16 4498 c.4474C>T c.(4474-4476)Ctt>Ttt p.L1492F ABCA13_uc010kyr.2_Missense_Mutation_p.L995F|ABCA13_uc022acp.1_5'UTR NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 1492 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TTTATTAGCTCTTTTAAATGA 0.289000 16 10 0 0 0.000673444 0 0 FAM131C 348487 broad.mit.edu 37 1 16386022 16386022 + Missense_Mutation SNP C G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:16386022C>G uc001axz.4 - 5 719 c.529G>C c.(529-531)Gag>Cag p.E177Q NM_182623 NP_872429 Q96AQ9 F131C_HUMAN Homo sapiens family with sequence similarity 131, member C (FAM131C), mRNA. 177 large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) GGGCTGTTCTCGGGGTGCAGC 0.652000 14 5 0 0 0.000274275 0 0 ABCF3 55324 broad.mit.edu 37 3 183910650 183910650 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:183910650C>T uc003fmz.2 + 17 1849 c.1716C>T c.(1714-1716)gtC>gtT p.V572V ABCF3_uc003fna.2_Silent_p.V566V|ABCF3_uc003fnb.2_Silent_p.V253V NM_018358 NP_060828 Q9NUQ8 ABCF3_HUMAN Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA. 572 ABC transporter 2. ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACCTAAACGTCAGTGCTGTGG 0.542000 49 7 0 0 0.00307968 0 0 KAT6B 23522 broad.mit.edu 37 10 76790158 76790158 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:76790158T>A uc001jwn.1 + 17 6069 c.5576T>A c.(5575-5577)gTt>gAt p.V1859D KAT6B_uc001jwo.1_Missense_Mutation_p.V1567D|KAT6B_uc001jwp.1_Missense_Mutation_p.V1676D NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA. 1859 Interaction with RUNX1 and RUNX2. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding ACAGGGCTTGTTCAACTTTCT 0.517000 37 37 0 0 0.00222228 0 0 SLC26A7 115111 broad.mit.edu 37 8 92352659 92352659 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:92352659G>A uc003yez.3 + 7 1145 c.906G>A c.(904-906)atG>atA p.M302I SLC26A7_uc003yex.3_Missense_Mutation_p.M302I|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.M302I NM_134266 NP_599028 Q8TE54 S26A7_HUMAN Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA. 302 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity p.P301P(1) breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) CTCCCCCGATGAACATCCTCT 0.438000 68 29 0 0 0.00283554 0 0 BRSK1 84446 broad.mit.edu 37 19 55817700 55817700 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55817700C>T uc002qkf.3 + 18 2146 c.2019C>T c.(2017-2019)ttC>ttT p.F673F BRSK1_uc002qkg.3_Silent_p.F657F|BRSK1_uc002qkh.3_Silent_p.F352F|Mir_324_uc021vbu.1_5'Flank NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA. 657 G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) CCTCCGTCTTCCAAAAGCCCG 0.637000 34 12 0 0 0.00244969 0 0 TTYH2 94015 broad.mit.edu 37 17 72249964 72249964 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:72249964C>T uc002jkc.3 + 12 1547 c.1516C>T c.(1516-1518)Ccg>Tcg p.P506S TTYH2_uc010wqw.2_Missense_Mutation_p.P485S|TTYH2_uc002jkd.3_Missense_Mutation_p.P185S NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA. 506 chloride channel complex|plasma membrane chloride channel activity|protein binding p.P505H(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 AGCCTCCCCTCCGCCTACGGT 0.552000 41 38 0 0 0.00428921 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20903710 20903710 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:20903710G>A uc010sii.2 + 14 2255 c.1900G>A c.(1900-1902)Gat>Aat p.D634N SLCO1C1_uc010sij.2_Missense_Mutation_p.D585N|SLCO1C1_uc009zip.3_Missense_Mutation_p.D468N|SLCO1C1_uc001rei.3_Missense_Mutation_p.D634N|SLCO1C1_uc010sik.2_Missense_Mutation_p.D516N NM_001145946 NP_001139416 Q9NYB5 SO1C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA. 634 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CAGATTATATGATTCAAATGT 0.393000 43 18 0 0 0.000566183 0 0 VIPR2 7434 broad.mit.edu 37 7 158829505 158829505 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:158829505G>A uc003woh.3 - 6 872 c.686C>T c.(685-687)aCc>aTc p.T229I VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript NM_003382 NP_003373 P41587 VIPR2_HUMAN Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA. 229 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CACCAGGAGGGTGTGGAGGTA 0.612000 14 8 0 0 0.00307968 0 0 ATP13A4 84239 broad.mit.edu 37 3 193210763 193210763 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:193210763G>A uc003ftd.3 - 4 584 c.476C>T c.(475-477)tCt>tTt p.S159F ATP13A4_uc003fte.1_Missense_Mutation_p.S159F|ATP13A4_uc011bsr.1_5'UTR NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 159 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TATCTTGGCAGAACTAAGCCA 0.308000 37 13 0 0 0.00244969 0 0 COL4A5 1287 broad.mit.edu 37 X 107865086 107865086 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:107865086G>A uc022ccg.1 + 31 2933 c.2731G>A c.(2731-2733)Gga>Aga p.G911R COL4A5_uc004enz.1_Missense_Mutation_p.G911R|COL4A5_uc004eob.1_Missense_Mutation_p.G519R NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 911 Triple-helical region. G -> E (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AGGACCTTTGGGAATTCCTGG 0.428000 Alport syndrome with Diffuse Leiomyomatosis 10 22 0 0 0.00188189 0 0 ZNF831 128611 broad.mit.edu 37 20 57782012 57782012 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:57782012C>T uc002yan.3 + 2 3928 c.3928C>T c.(3928-3930)Cgc>Tgc p.R1310C NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1310 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CAGTAGACTTCGCACACCAAC 0.547000 85 39 0 0 0.00128727 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64587248 64587248 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:64587248G>A uc003jtp.3 - 10 2234 c.1420C>T c.(1420-1422)Ctt>Ttt p.L474F ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.L95F NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 474 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) GCTGGATAAAGAAAGTCACGC 0.453000 57 14 0 0 0.00316338 0 0 C9orf153 389766 broad.mit.edu 37 9 88844513 88844513 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:88844513G>A uc004aoo.3 - 1 87 c.6C>T c.(4-6)ttC>ttT p.F2F GOLM1_uc010mqd.1_Intron|C9orf153_uc004aon.3_Silent_p.F2F NM_001010907 NP_001010907 Q5TBE3 CI153_HUMAN Homo sapiens chromosome 9 open reading frame 153 (C9orf153), mRNA. 2 breast(1)|lung(1) 2 CTCCAGTGAGGAACATCGTGC 0.398000 41 16 0 0 0.000958276 0 0 RGL2 5863 broad.mit.edu 37 6 33260299 33260299 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:33260299G>A uc003odv.3 - 16 2590 c.2030C>T c.(2029-2031)cCa>cTa p.P677L WDR46_uc011dra.2_5'Flank|WDR46_uc003ods.3_5'Flank|RGL2_uc003odu.3_Missense_Mutation_p.P237L|RGL2_uc010jur.3_Missense_Mutation_p.P237L|RGL2_uc003odw.3_Missense_Mutation_p.P595L NM_004761 NP_001230667 O15211 RGL2_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA. 677 Ras-associating. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 GATGACACTTGGAGCCTTGTC 0.517000 88 36 0 0 0.00148497 0 0 NPY1R 4886 broad.mit.edu 37 4 164247476 164247476 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:164247476G>A uc003iqm.2 - 1 696 c.231C>T c.(229-231)atC>atT p.I77I NPY1R_uc021xtv.1_Silent_p.I77I|NPY1R_uc011cjj.2_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA. 77 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TCACAATCAGGATGTTGGTAA 0.428000 41 10 0 0 0.000442599 0 0 DSP 1832 broad.mit.edu 37 6 7569517 7569517 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:7569517C>T uc003mxp.1 + 11 1797 c.1518C>T c.(1516-1518)ccC>ccT p.P506P DSP_uc003mxq.1_Silent_p.P506P|DSP_uc021yle.1_Silent_p.P506P NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 506 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGCTTGTTCCCTCTGTGGGGC 0.557000 76 22 0 0 0.00152264 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18194976 18194976 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:18194976G>A uc001mnv.1 + 0 593 c.173G>A c.(172-174)aGg>aAg p.R58K NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA. 58 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 CGCATGCGCAGGAACGCTGTC 0.542000 47 18 0 0 0.00121646 0 0 FAM105A 54491 broad.mit.edu 37 5 14607499 14607499 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:14607499C>T uc003jfj.3 + 5 672 c.559C>T c.(559-561)Cct>Tct p.P187S NM_019018 NP_061891 Q9NUU6 F105A_HUMAN Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA. 187 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) CAGTTTTGGTCCTGAGAAGTA 0.378000 51 20 0 0 0.00229938 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16528960 16528960 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:16528960G>A uc001ayc.1 - 12 2154 c.2017C>T c.(2017-2019)Ctc>Ttc p.L673F ARHGEF19_uc009voo.1_Missense_Mutation_p.L26F NM_153213 NP_694945 Q8IW93 ARHGJ_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA. 673 PH. regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) TGCCCGTGGAGGAGCTGGAGG 0.647000 11 4 0 0 0.00024832 0 0 VIL1 7429 broad.mit.edu 37 2 219294026 219294026 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:219294026G>A uc002vib.3 + 5 608 c.586G>A c.(586-588)Gag>Aag p.E196K VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.E196K|VIL1_uc002vic.1_Missense_Mutation_p.E196K NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 196 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCTGGCCAAGGAGATCCGAGA 0.617000 37 15 0 0 0.000566183 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121510 38121510 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:38121510C>T uc003atr.3 + 6 3218 c.2947C>T c.(2947-2949)Cca>Tca p.P983S TRIOBP_uc003atu.3_Missense_Mutation_p.P811S|TRIOBP_uc003atq.1_Missense_Mutation_p.P983S|TRIOBP_uc003ats.1_Missense_Mutation_p.P811S NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 983 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CTCCCATAACCCAGGCCACCA 0.642000 87 37 0 0 0.00128727 0 0 KPRP 448834 broad.mit.edu 37 1 152733053 152733053 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:152733053C>T uc001fal.1 + 1 1047 c.989C>T c.(988-990)tCc>tTc p.S330F KPRP_uc021ozf.1_Missense_Mutation_p.S330F NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA. 330 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ATCGAGATTTCCTCCCCGTGC 0.632000 29 5 0 0 0.000602214 0 0 UNC13A 23025 broad.mit.edu 37 19 17741529 17741529 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:17741529C>T uc021uqk.1 - 28 3498 c.3456G>A c.(3454-3456)ctG>ctA p.L1152L NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA. 1153 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.K1151N(1) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CATTCTCATCCAGCCACTGGA 0.582000 35 20 0 0 0.00332997 0 0 THSD7B 80731 broad.mit.edu 37 2 138163223 138163223 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:138163223G>A uc002tva.1 + 11 2448 c.2448G>A c.(2446-2448)atG>atA p.M816I THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.M706I NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CAGCAGAAATGATGGAATGCC 0.438000 35 15 0 0 0.00152264 0 0 HSP90AB3P 3327 broad.mit.edu 37 4 88813042 88813042 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:88813042C>T uc010iko.1 + 0 48 c.48C>T c.(46-48)gcC>gcT p.A16A Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA. AGACTTTTGCCTTTCAGGCAG 0.453000 42 20 0 0 0.00278032 0 0 SPOCK3 50859 broad.mit.edu 37 4 167656152 167656152 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:167656152C>T uc011cjq.1 - 9 1315 c.1258G>A c.(1258-1260)Gat>Aat p.D420N SPOCK3_uc021xuf.1_Missense_Mutation_p.D411N|SPOCK3_uc011cjr.1_Missense_Mutation_p.D291N|SPOCK3_uc003iri.1_Missense_Mutation_p.D411N|SPOCK3_uc011cjs.1_Missense_Mutation_p.D360N|SPOCK3_uc003irj.1_Missense_Mutation_p.D408N|SPOCK3_uc011cjt.1_Missense_Mutation_p.D319N|SPOCK3_uc011cjp.2_Missense_Mutation_p.D368N|SPOCK3_uc011cju.1_Missense_Mutation_p.D315N|SPOCK3_uc011cjv.1_Missense_Mutation_p.D313N NM_001204353 NP_001191282 Q9BQ16 TICN3_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA. 411 Asp-rich. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) tcatcttcatcattcataata 0.358000 42 12 0 0 0.00136819 0 0 ADAM23 8745 broad.mit.edu 37 2 207414845 207414845 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:207414845G>A uc002vbq.3 + 8 1117 c.894G>A c.(892-894)atG>atA p.M298I ADAM23_uc010ziv.2_Non-coding_Transcript NM_003812 NP_003803 O75077 ADA23_HUMAN Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA. 298 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TTGAAGAAATGAAATATTTGG 0.303000 43 16 0 0 0.000958276 0 0 COBL 23242 broad.mit.edu 37 7 51097132 51097132 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:51097132G>A uc003tps.3 - 10 2017 c.1832C>T c.(1831-1833)tCg>tTg p.S611L COBL_uc003tpr.4_Missense_Mutation_p.S554L|COBL_uc011kcl.2_Missense_Mutation_p.S554L|COBL_uc003tpp.4_Missense_Mutation_p.S340L|COBL_uc003tpq.4_Missense_Mutation_p.S495L|COBL_uc003tpo.4_Missense_Mutation_p.S96L NM_015198 NP_056013 O75128 COBL_HUMAN Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA. 554 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) AAACAACCCCGAATCCACAGG 0.532000 17 14 0 0 0.00316338 0 0 CACNA1E 777 broad.mit.edu 37 1 181708310 181708310 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:181708310G>A uc009wxt.3 + 24 3835 c.3640G>A c.(3640-3642)Gat>Aat p.D1214N CACNA1E_uc001gow.3_Missense_Mutation_p.D1214N|CACNA1E_uc009wxs.3_Missense_Mutation_p.D1195N|CACNA1E_uc001gox.1_Missense_Mutation_p.D440N NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1214 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GATCCTGCAGGATGGGTCCTA 0.498000 108 38 0 0 0.00148497 0 0 MYH4 4622 broad.mit.edu 37 17 10355326 10355326 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10355326C>T uc002gmn.3 - 26 3781 c.3670G>A c.(3670-3672)Gaa>Aaa p.E1224K AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1224 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCACTCTTTTCCTTCTCCAGC 0.498000 26 20 0 0 0.00152264 0 0 C3orf15 89876 broad.mit.edu 37 3 119466664 119466664 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:119466664C>T uc003ede.4 + 15 2135 c.2058C>T c.(2056-2058)acC>acT p.T686T C3orf15_uc010hqz.3_Silent_p.T624T|C3orf15_uc011bjd.2_Silent_p.T560T|C3orf15_uc011bje.2_Silent_p.T666T|C3orf15_uc003edg.4_Non-coding_Transcript|C3orf15_uc003edh.4_5'Flank NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA. 522 mitochondrion protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.186) TTAGCCGAACCTATCTTCAGT 0.343000 26 18 0 0 0.00152264 0 0 TRPM2 7226 broad.mit.edu 37 21 45861640 45861640 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:45861640C>T uc010gpt.1 + 32 4702 c.4602C>T c.(4600-4602)ctC>ctT p.L1534L TRPM2_uc002zet.1_Silent_p.L1484L|TRPM2_uc002zeu.1_Silent_p.L1484L|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.L1484L|TRPM2_uc002zex.1_Silent_p.L1270L|TRPM2_uc002zey.1_Silent_p.L963L|TRPM2_uc011aff.1_Silent_p.L165L NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 1484 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GCATCCCACTCTATGCGAACC 0.642000 25 13 0 0 0.00316338 0 0 PDE1C 5137 broad.mit.edu 37 7 32109955 32109955 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:32109955T>A uc003tcm.2 - 0 512 c.51A>T c.(49-51)aaA>aaT p.K17N PDE1C_uc003tcn.1_Missense_Mutation_p.K17N|PDE1C_uc003tco.2_Intron|PDE1C_uc003tcr.3_Missense_Mutation_p.K17N|PDE1C_uc003tcs.3_Missense_Mutation_p.K17N NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 17 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) GTTGCAGGTATTTCAGAGAGT 0.507000 65 35 0 0 0.00148497 0 0 ACTL6B 51412 broad.mit.edu 37 7 100245157 100245157 + Splice_Site SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:100245157C>T uc003uvy.3 - 8 777 c.670_splice c.e8-1 p.E224_splice ACTL6B_uc003uvz.3_Splice_Site NM_016188 NP_057272 O94805 ACL6B_HUMAN Homo sapiens actin-like 6B (ACTL6B), mRNA. 224 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent SWI/SNF complex|nBAF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGACAGGCTCCTGTGGGGGCA 0.602000 28 14 0 0 0.00316338 0 0 SYT9 143425 broad.mit.edu 37 11 7324274 7324274 + Missense_Mutation SNP C G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:7324274C>G uc001mfe.3 + 1 387 c.150C>G c.(148-150)atC>atG p.I50M SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript NM_175733 NP_783860 Q86SS6 SYT9_HUMAN Homo sapiens synaptotagmin IX (SYT9), mRNA. 50 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.I50I(2) NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TTGCAGATATCTCAGTGAGCC 0.542000 59 19 0 0 0.00121646 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806600 97806600 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:97806600C>T uc011bgs.2 + 0 584 c.584C>T c.(583-585)tCt>tTt p.S195F NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA. 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 AATGGTCCATCTATTAACGCA 0.303000 43 24 0 0 0.00278032 0 0 BCL2L11 10018 broad.mit.edu 37 2 111881398 111881399 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:111881398_111881399CC>TT uc002tgv.1 + 1 364_365 c.76_77CC>TT c.(76-78)ccc>TTc p.P26F BCL2L11_uc002tgt.1_Missense_Mutation_p.P26F|BCL2L11_uc021vmo.1_Missense_Mutation_p.P26F|BCL2L11_uc002tgu.1_Missense_Mutation_p.P26F|BCL2L11_uc002tgy.2_Missense_Mutation_p.P26F|BCL2L11_uc002thb.2_Missense_Mutation_p.P26F|BCL2L11_uc002tgx.2_Missense_Mutation_p.P26F|BCL2L11_uc021vmp.1_Missense_Mutation_p.P26F|BCL2L11_uc010fkd.2_Missense_Mutation_p.P26F|BCL2L11_uc002tgz.2_Missense_Mutation_p.P26F|BCL2L11_uc002thd.2_Missense_Mutation_p.P26F|BCL2L11_uc002tha.2_Missense_Mutation_p.P26F|BCL2L11_uc010fke.2_Missense_Mutation_p.P26F|BCL2L11_uc021vmq.1_Missense_Mutation_p.P26F|BCL2L11_uc002thc.2_Missense_Mutation_p.P26F|BCL2L11_uc021vmr.1_Missense_Mutation_p.P26F|BCL2L11_uc002tgw.2_Missense_Mutation_p.P26F|BCL2L11_uc021vms.1_Missense_Mutation_p.P26F NM_138621 NP_619527 O43521 B2L11_HUMAN Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 1, mRNA. 26 activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane protein binding endometrium(4)|large_intestine(3)|lung(2)|prostate(2) 11 GGAGAGGCCTCCCCAGCTCAGA 0.545000 42 7 0 0 6.4e-05 0 0 TTN 7273 broad.mit.edu 37 2 179594214 179594214 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179594214C>T uc021vsy.1 - 60 15162 c.14937G>A c.(14935-14937)acG>acA p.T4979T TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.T1640T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5906 Ig-like 30. 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) GAGGTGTTCCCGTAACTTCAC 0.448000 53 38 0 0 0.00428921 0 0 HNF1B 6928 broad.mit.edu 37 17 36099523 36099523 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:36099523G>A uc002hok.4 - 1 673 c.452C>T c.(451-453)tCc>tTc p.S151F HNF1B_uc010wdi.2_Missense_Mutation_p.S151F|HNF1B_uc021tvv.1_Missense_Mutation_p.S151F|HNF1B_uc021tvw.1_Missense_Mutation_p.S151F NM_000458 NP_000449 P35680 HNF1B_HUMAN Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA. 151 S -> P (in RCAD). endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) GAGATGCTGGGAGAGGTGCGA 0.557000 376 329 0 0 0.00361006 0 0 MYO18B 84700 broad.mit.edu 37 22 26219577 26219577 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:26219577G>A uc003abz.1 + 12 2877 c.2627G>A c.(2626-2628)cGa>cAa p.R876Q MYO18B_uc003aca.1_Missense_Mutation_p.R757Q|MYO18B_uc010guy.1_Missense_Mutation_p.R757Q|MYO18B_uc010guz.1_Missense_Mutation_p.R757Q|MYO18B_uc011aka.1_Missense_Mutation_p.R30Q|MYO18B_uc011akb.1_Missense_Mutation_p.R389Q NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 876 Myosin head-like. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity p.R876*(1) NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CACCACCTTCGACAGATCATC 0.577000 161 64 0 0 0.00361006 0 0 RIMS1 22999 broad.mit.edu 37 6 72889377 72889377 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:72889377G>A uc003pga.3 + 4 648 c.571G>A c.(571-573)Gga>Aga p.G191R RIMS1_uc011dyb.2_5'Flank|RIMS1_uc003pgc.3_5'Flank|RIMS1_uc003pgb.4_5'Flank NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA. 191 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 Rab GTPase binding|metal ion 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) AAGTCAGGATGGAACCCTGAG 0.493000 36 13 0 0 0.00316338 0 0 LARP1 23367 broad.mit.edu 37 5 154174820 154174820 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:154174820C>T uc003lvo.3 + 7 1111 c.1087C>T c.(1087-1089)Ctt>Ttt p.L363F LARP1_uc021ygh.1_Missense_Mutation_p.L235F|LARP1_uc021ygi.1_Missense_Mutation_p.L440F|LARP1_uc010jie.1_Missense_Mutation_p.L235F NM_015315 NP_056130 Q6PKG0 LARP1_HUMAN Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA. 440 RNA binding|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ACCCATCACCCTTATTGCTTC 0.493000 41 13 0 0 0.00244969 0 0 TARS2 80222 broad.mit.edu 37 1 150471694 150471694 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:150471694C>T uc001euq.3 + 12 1549 c.1542C>T c.(1540-1542)gtC>gtT p.V514V TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Silent_p.V432V|TARS2_uc009wlt.3_Silent_p.V140V|TARS2_uc009wls.3_Silent_p.V384V NM_025150 NP_079426 Q9BW92 SYTM_HUMAN Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA. 514 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) CTTCAAAGGTCCTTAAACAGG 0.483000 133 66 0 0 0.00361006 0 0 RBM11 54033 broad.mit.edu 37 21 15592007 15592007 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:15592007C>T uc002yjo.4 + 1 262 c.220C>T c.(220-222)Cgt>Tgt p.R74C RBM11_uc002yjn.4_5'UTR|RBM11_uc002yjp.4_Intron NM_144770 NP_658983 P57052 RBM11_HUMAN Homo sapiens RNA binding motif protein 11 (RBM11), mRNA. 74 RRM. RNA binding|nucleotide binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) GAATGGAATTCGTTTATATGG 0.388000 30 9 0 0 0.000673444 0 0 WDR62 284403 broad.mit.edu 37 19 36575559 36575559 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:36575559C>T uc002odd.2 + 11 1646 c.1555C>T c.(1555-1557)Cac>Tac p.H519Y WDR62_uc002odc.2_Missense_Mutation_p.H519Y NM_001083961 NP_001077430 O43379 WDR62_HUMAN Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA. 519 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCCCAGGATCCACGAGCTGCA 0.607000 32 22 0 0 0.000720815 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152226541 152226541 + Silent SNP G A A rs144393744 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:152226541G>A uc002txk.3 + 3 477 c.402G>A c.(400-402)gaG>gaA p.E134E FW340097_uc021vqy.1_Intron|MIR4773-2_uc021vra.1_5'Flank NM_007115 NP_009046 P98066 TSG6_HUMAN Homo sapiens tumor necrosis factor, alpha-induced protein 6 (TNFAIP6), mRNA. 134 cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) CAGCAAAGGAGTGTGGTGGCG 0.358000 57 18 0 0 0.00152264 0 0 ZNF567 163081 broad.mit.edu 37 19 37210633 37210633 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:37210633C>T uc010xtl.2 + 5 1229 c.1007C>T c.(1006-1008)tCg>tTg p.S336L ZNF567_uc002oeo.1_Missense_Mutation_p.S336L|ZNF567_uc010xtk.1_Missense_Mutation_p.S336L|ZNF567_uc002oep.4_Missense_Mutation_p.S305L|ZNF567_uc002oeq.1_Missense_Mutation_p.S305L NM_152603 NP_689816 Q8N184 ZN567_HUMAN Homo sapiens zinc finger protein 567 (ZNF567), mRNA. 336 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S305L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GGGGAGAAATCGTATGAATGT 0.458000 28 10 0 0 0.000673444 0 0 ANO5 203859 broad.mit.edu 37 11 22283727 22283727 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:22283727C>T uc001mqi.2 + 15 2000 c.1683C>T c.(1681-1683)ttC>ttT p.F561F ANO5_uc001mqj.2_Silent_p.F560F NM_213599 NP_998764 Q75V66 ANO5_HUMAN Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA. 561 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGAAAATGTTCCTGTTTCAGT 0.323000 65 35 0 0 0.00111076 0 0 FAM24A 118670 broad.mit.edu 37 10 124671148 124671148 + Splice_Site SNP G A A rs34697731 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:124671148G>A uc001lgv.3 + 2 120 c.-1_splice c.e2-1 NM_001029888 NP_001025059 A6NFZ4 FA24A_HUMAN Homo sapiens family with sequence similarity 24, member A (FAM24A), mRNA. extracellular region large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 9 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141) TTTCTCCTTAGGCATGGCAAA 0.507000 66 58 0 0 0.00361006 0 0 RELN 5649 broad.mit.edu 37 7 103197532 103197532 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:103197532C>T uc022ajr.1 - 37 5849 c.5689G>A c.(5689-5691)Gaa>Aaa p.E1897K RELN_uc022ajq.1_Missense_Mutation_p.E1897K|RELN_uc010liz.3_Missense_Mutation_p.E1897K NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 1897 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AAGTAAAATTCATCCATCAGG 0.408000 45 19 0 0 0.00152264 0 0 TTN 7273 broad.mit.edu 37 2 179536836 179536836 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179536836G>A uc021vsy.1 - 149 31411 c.31186C>T c.(31186-31188)Cat>Tat p.H10396Y MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.H7057Y|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11323 Glu-rich.|Pro-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) TCTACTTCATGAAACTCGCCT 0.343000 37 20 0 0 0.000958276 0 0 LCN9 392399 broad.mit.edu 37 9 138556091 138556092 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:138556091_138556092CC>TT uc004cgk.1 + 1 180_181 c.180_181CC>TT c.(178-183)gtccgg>gtTTgg p.R61W NM_001001676 NP_001001676 Q8WX39 LCN9_HUMAN Homo sapiens lipocalin 9 (LCN9), mRNA. 61 extracellular region pheromone binding|transporter activity p.V60I(1) kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 6 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05) GGGTCTTCGTCCGGAATATTGA 0.470000 95 29 0 0 6.4e-05 0 0 OR2W1 26692 broad.mit.edu 37 6 29012694 29012694 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:29012694C>T uc003nlw.2 - 0 259 c.259G>A c.(259-261)Gga>Aga p.G87R LOC100129636_uc021ytq.1_Intron NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA. 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G87*(2) endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 TTATCAGGTCCCCACAAGTTG 0.438000 53 7 0 0 0.000274275 0 0 PCDH11X 27328 broad.mit.edu 37 X 91132680 91132680 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:91132680C>T uc004efk.2 + 1 2286 c.1441C>T c.(1441-1443)Cct>Tct p.P481S PCDH11X_uc004efl.2_Missense_Mutation_p.P481S|PCDH11X_uc010nmv.2_Missense_Mutation_p.P481S|PCDH11X_uc004efm.2_Missense_Mutation_p.P481S|PCDH11X_uc004efn.2_Missense_Mutation_p.P481S|PCDH11X_uc004efo.2_Missense_Mutation_p.P481S|PCDH11X_uc004efh.2_Missense_Mutation_p.P481S|PCDH11X_uc004efj.1_Missense_Mutation_p.P481S NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA. 481 Cadherin 5. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GAATAACTCTCCTGGCATCCA 0.438000 19 23 0 0 0.00106085 0 0 FAM75A6 389730 broad.mit.edu 37 9 43626810 43626810 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:43626810G>A uc011lrb.2 - 3 1906 c.1877C>T c.(1876-1878)tCa>tTa p.S626L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA. 626 integral to membrane breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1) 54 TGTCCCTGGTGATTCGTCCCG 0.537000 43 14 0 0 0.000958276 0 0 MEF2D 4209 broad.mit.edu 37 1 156437976 156437976 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:156437976G>A uc001fpc.3 - 10 1753 c.1363C>T c.(1363-1365)Cct>Tct p.P455S MEF2D_uc001fpb.3_Missense_Mutation_p.P448S|MEF2D_uc001fpd.3_Missense_Mutation_p.P448S|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Missense_Mutation_p.P455S NM_005920 NP_005911 Q14814 MEF2D_HUMAN Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA. 455 Poly-Pro. apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACAGCTGGAGGGGGAGGCGCA 0.687000 20 9 0 0 0.000442599 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74819696 74819696 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:74819696C>T uc001dge.2 + 12 1430 c.1363C>T c.(1363-1365)Cgc>Tgc p.R455C FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.R455C|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.R455C|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.R354C NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA. 354 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding p.R354C(1) CGGTCACATTCGCCTGGTTCA 0.398000 46 57 0 0 0.00361006 0 0 ATP1A2 477 broad.mit.edu 37 1 160105045 160105045 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:160105045C>T uc001fvc.3 + 14 2207 c.2075C>T c.(2074-2076)cCc>cTc p.P692L ATP1A2_uc001fvb.2_Missense_Mutation_p.P692L|ATP1A2_uc001fvd.3_Missense_Mutation_p.P428L NM_000702 NP_000693 P50993 AT1A2_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA. 692 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CGAACGTCTCCCCAGCAGAAG 0.597000 45 21 0 0 0.00332997 0 0 ODZ3 55714 broad.mit.edu 37 4 183664419 183664419 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:183664419C>T uc003ivd.1 + 17 3551 c.3476C>T c.(3475-3477)tCc>tTc p.S1159F ODZ3_uc003ive.1_Missense_Mutation_p.S565F NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1159 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CGCAGCATTTCCTGCCCCAGT 0.537000 20 14 0 0 0.00316338 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553766 140553766 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140553766C>T uc003lit.3 + 0 1524 c.1350C>T c.(1348-1350)gcC>gcT p.A450A NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 450 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGCTCCCGCCTTCACCCAAA 0.592000 96 53 0 0 0.00361006 0 0 ALDH2 217 broad.mit.edu 37 12 112229871 112229871 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:112229871C>T uc001tst.3 + 7 898 c.802C>T c.(802-804)Cgc>Tgc p.R268C ALDH2_uc010syi.2_Missense_Mutation_p.R221C NM_000690 NP_000681 P05091 ALDH2_HUMAN Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 268 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 22 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) ACAGATTGGCCGCGTAATCCA 0.547000 T HMGA2 leiomyoma 43 10 0 0 0.000442599 0 0 TG 7038 broad.mit.edu 37 8 134031881 134031881 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:134031881A>T uc003ytw.3 + 38 6858 c.6817A>T c.(6817-6819)Acg>Tcg p.T2273S TG_uc010mdw.3_Missense_Mutation_p.T1032S|TG_uc011ljb.2_Missense_Mutation_p.T642S|TG_uc011ljc.2_Missense_Mutation_p.T406S NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 2273 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CAGAACATCCACGTCTCCTGG 0.527000 33 20 0 0 0.00278032 0 0 MYL4 4635 broad.mit.edu 37 17 45286862 45286862 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:45286862C>T uc002ilg.3 + 1 202 c.74C>T c.(73-75)cCa>cTa p.P25L MYL4_uc002ilh.3_Missense_Mutation_p.P25L NM_001002841 NP_002467 P12829 MYL4_HUMAN Homo sapiens myosin, light chain 4, alkali; atrial, embryonic (MYL4), transcript variant 1, mRNA. 25 cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction A band|cytosol|muscle myosin complex actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1) 11 gcccctgcaccagcccctgcc 0.587000 40 38 0 0 0.00428921 0 0 ABHD15 116236 broad.mit.edu 37 17 27889904 27889904 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:27889904G>A uc002hed.2 - 1 1140 c.1082C>T c.(1081-1083)cCc>cTc p.P361L NM_198147 NP_937790 Q6UXT9 ABH15_HUMAN Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA. 361 extracellular region carboxylesterase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 10 TCCACACACGGGGTCGTCAGC 0.607000 45 13 0 0 0.00185496 0 0 EPHA6 285220 broad.mit.edu 37 3 96962974 96962974 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:96962974C>T uc010how.1 + 4 1492 c.1449C>T c.(1447-1449)atC>atT p.I483I EPHA6_uc003drp.1_Silent_p.I483I NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 388 Fibronectin type-III 2. 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 TCCGCTTCATCCCAAGACATA 0.443000 43 12 0 0 0.00185496 0 0 XIRP2 129446 broad.mit.edu 37 2 168103798 168103798 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:168103798C>T uc002udx.3 + 8 5985 c.5896C>T c.(5896-5898)Cag>Tag p.Q1966* XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Nonsense_Mutation_p.Q1791*|XIRP2_uc010fpq.3_Nonsense_Mutation_p.Q1744*|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1791 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 AGATATTCATCAGGTTGCTGT 0.448000 36 17 0 0 0.000566183 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227561 56227561 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:56227561G>A uc002xyq.3 - 3 805 c.412C>T c.(412-414)Ccg>Tcg p.P138S PMEPA1_uc002xyr.3_Missense_Mutation_p.P88S|PMEPA1_uc002xys.3_Missense_Mutation_p.P103S|PMEPA1_uc002xyt.3_Missense_Mutation_p.P88S NM_020182 NP_954640 Q969W9 PMEPA_HUMAN Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA. 138 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 TGCAGGTACGGATAGGTGGGC 0.716000 7 10 0 0 0.000978159 0 0 MIR548I1 100302204 broad.mit.edu 37 3 125509351 125509351 + RNA SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:125509351T>C uc021xdg.1 - 0 c.45A>G Homo sapiens microRNA 548i-1 (MIR548I1), microRNA. aatccgcaattacttttgcac 0.413000 37 23 0 0 0.00395357 0 0 TAF2 6873 broad.mit.edu 37 8 120809338 120809338 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:120809338T>A uc003you.3 - 7 1253 c.983A>T c.(982-984)aAt>aTt p.N328I NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA. 328 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GTGTAAAAGATTTGTGCTGGA 0.328000 31 8 0 0 0.00307968 0 0 PREX2 80243 broad.mit.edu 37 8 69136817 69136817 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:69136817G>A uc003xxv.1 + 38 4758 c.4731G>A c.(4729-4731)gcG>gcA p.A1577A NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 1577 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding p.A1577V(1) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AGAACACAGCGAAGAATTTGG 0.458000 36 10 0 0 0.000673444 0 0 PMFBP1 83449 broad.mit.edu 37 16 72163092 72163092 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:72163092T>A uc002fcc.4 - 12 2010 c.1838A>T c.(1837-1839)gAt>gTt p.D613V PMFBP1_uc002fcd.3_Missense_Mutation_p.D608V|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.D463V|PMFBP1_uc010cgo.1_5'Flank NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 613 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) CTCCTGAAGATCTTCTTCTAA 0.443000 166 95 0 0 0.00361006 0 0 ARID4B 51742 broad.mit.edu 37 1 235377134 235377134 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:235377134G>A uc021pks.1 - 16 2168 c.1791C>T c.(1789-1791)gtC>gtT p.V597V ARID4B_uc001hwq.3_Silent_p.V597V|ARID4B_uc001hwr.3_Intron|ARID4B_uc001hws.4_Intron|ARID4B_uc001hwt.4_Silent_p.V278V NM_001206794 NP_001193723 Q4LE39 ARI4B_HUMAN Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA. 597 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding p.V597V(1) NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) CTCCACCTTCGACATCAGAAT 0.383000 93 42 0 0 0.00285205 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140222032 140222032 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140222032G>A uc003lhs.2 + 0 1126 c.1126G>A c.(1126-1128)Gac>Aac p.D376N PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.D376N NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 391 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGCGTGAACGACCTCGATTC 0.502000 92 53 0 0 0.00361006 0 0 OR3A1 4994 broad.mit.edu 37 17 3195490 3195490 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:3195490G>A uc002fvh.1 - 0 387 c.387C>T c.(385-387)atC>atT p.I129I NM_002550 NP_002541 P47881 OR3A1_HUMAN Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA. 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 GGGGCCGGCAGATGGCCAGGA 0.597000 27 22 0 0 0.00229938 0 0 ACSM2A 123876 broad.mit.edu 37 16 20477027 20477027 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:20477027G>A uc010bwe.3 + 3 605 c.366G>A c.(364-366)gtG>gtA p.V122V ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Silent_p.V43V|ACSM2A_uc002dhf.4_Silent_p.V122V|ACSM2A_uc002dhg.4_Silent_p.V122V|ACSM2A_uc010vay.2_Silent_p.V43V NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA. 122 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GGTGGCTGGTGATCCTGGGCT 0.587000 22 7 0 0 0.00198382 0 0 TTC21A 199223 broad.mit.edu 37 3 39172499 39172499 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:39172499C>T uc003cjc.2 + 18 2673 c.2496C>T c.(2494-2496)tcC>tcT p.S832S TTC21A_uc011ayx.1_Silent_p.S784S|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc011ayy.2_5'Flank|TTC21A_uc003cjf.2_5'Flank NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA. 832 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) ACATCCCATCCATGATGAATG 0.433000 23 23 0 0 0.000720815 0 0 FAM13C 220965 broad.mit.edu 37 10 61029827 61029827 + Missense_Mutation SNP C T T rs143474599 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:61029827C>T uc010qif.1 - 6 767 c.701G>A c.(700-702)aGt>aAt p.S234N FAM13C_uc010qid.2_Missense_Mutation_p.S129N|FAM13C_uc001jkn.3_Missense_Mutation_p.S212N|FAM13C_uc001jko.3_Missense_Mutation_p.S212N|FAM13C_uc010qie.2_Missense_Mutation_p.S129N|FAM13C_uc001jkp.3_Missense_Mutation_p.S129N NM_198215 NP_937858 Q8NE31 FA13C_HUMAN Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA. 212 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TTCTGGTGCACTGTCGGCCTC 0.532000 23 22 0 0 0.00127121 0 0 PURG 29942 broad.mit.edu 37 8 30889392 30889392 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:30889392G>A uc003xin.3 - 0 926 c.907C>T c.(907-909)Cca>Tca p.P303S WRN_uc003xio.4_5'Flank|PURG_uc003xim.1_Intron NM_013357 NP_037489 Q9UJV8 PURG_HUMAN Homo sapiens purine-rich element binding protein G (PURG), transcript variant A, mRNA. 303 nucleus DNA binding endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) GCTTTGAATGGAACAGTAATA 0.378000 16 10 0 0 0.000442599 0 0 F7 2155 broad.mit.edu 37 13 113771786 113771786 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:113771786G>A uc001vsv.3 + 8 733 c.682_splice c.e8-1 p.V228_splice F7_uc001vsw.3_Splice_Site_p.V206_splice|F7_uc010tjt.2_Splice_Site_p.V159_splice NM_000131 NP_000122 P08709 FA7_HUMAN Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA. 228 Peptidase S1. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) CCCCCGCCCAGGTCCTGTTGT 0.557000 41 19 0 0 0.00188189 0 0 DOK3 79930 broad.mit.edu 37 5 176931106 176931106 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:176931106G>A uc003mhk.3 - 5 1374 c.1369C>T c.(1369-1371)Ctg>Ttg p.L457L DOK3_uc003mhh.4_Intron|DOK3_uc003mhi.4_Intron|DOK3_uc003mhj.4_Intron NM_024872 NP_079148 Q7L591 DOK3_HUMAN Homo sapiens docking protein 3 (DOK3), transcript variant 1, mRNA. 457 Pro-rich. cytoplasm|plasma membrane insulin receptor binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7) 13 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) TCCAGCTCCAGCAGCCGCCGG 0.677000 13 6 0 0 0.00116845 0 0 ITPR2 3709 broad.mit.edu 37 12 26811014 26811014 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:26811014G>A uc001rhg.3 - 16 2353 c.1936C>T c.(1936-1938)Cct>Tct p.P646S NM_002223 NP_002214 Q14571 ITPR2_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA. 646 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TGAGTTACAGGGATAGCAGTG 0.338000 27 11 0 0 0.000978159 0 0 AGBL1 123624 broad.mit.edu 37 15 87531227 87531227 + Silent SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:87531227A>G uc002blz.1 + 22 3173 c.3093A>G c.(3091-3093)tcA>tcG p.S1031S NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA. 1031 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 gattaaaatcatccaatttcc 0.318000 78 197 0 0 0.00361006 0 0 STRBP 55342 broad.mit.edu 37 9 125901814 125901814 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:125901814G>A uc004bns.3 - 13 1933 c.1491C>T c.(1489-1491)acC>acT p.T497T STRBP_uc004bnt.3_Silent_p.T315T|STRBP_uc004bnu.3_Silent_p.T483T|STRBP_uc004bnv.3_Silent_p.T497T NM_018387 NP_001164608 Q96SI9 STRBP_HUMAN Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA. 497 multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2) 26 ATACCTCTAAGGTACTGGAGG 0.289000 41 7 0 0 0.00307968 0 0 SALL1 6299 broad.mit.edu 37 16 51173577 51173577 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:51173577G>A uc021tif.1 - 1 2587 c.2265C>T c.(2263-2265)tcC>tcT p.S755S SALL1_uc021tid.1_Silent_p.S755S|SALL1_uc021tie.1_Silent_p.S852S|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 852 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AAGGCGAAGAGGATAAGCTGT 0.517000 65 10 0 0 0.000442599 0 0 EYA4 2070 broad.mit.edu 37 6 133827288 133827288 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:133827288G>A uc011ecs.2 + 13 1570 c.1254G>A c.(1252-1254)atG>atA p.M418I EYA4_uc011ecq.2_Missense_Mutation_p.M358I|EYA4_uc011ecr.2_Missense_Mutation_p.M364I|EYA4_uc003qec.4_Missense_Mutation_p.M412I|EYA4_uc003qed.4_Missense_Mutation_p.M412I|EYA4_uc003qee.4_Missense_Mutation_p.M389I|BC041459_uc003qef.1_Non-coding_Transcript|BC041459_uc003qeg.1_Non-coding_Transcript NM_004100 NP_004091 O95677 EYA4_HUMAN Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA. 412 DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TGGAAGAAATGATTTTTAATC 0.353000 58 17 0 0 0.00121646 0 0 WASF3 10810 broad.mit.edu 37 13 27250709 27250709 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:27250709C>T uc001uqv.3 + 6 789 c.564C>T c.(562-564)acC>acT p.T188T WASF3_uc001uqw.3_Intron NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN Homo sapiens WAS protein family, member 3 (WASF3), mRNA. 188 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) TAGATGGCACCACCCGTGAGG 0.463000 40 16 0 0 0.000566183 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67322296 67322296 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:67322296C>T uc010cef.3 + 19 3746 c.3447C>T c.(3445-3447)ccC>ccT p.P1149P PLEKHG4_uc002eso.4_Silent_p.P1149P|PLEKHG4_uc002esp.4_Silent_p.P956P|PLEKHG4_uc002esq.4_Silent_p.P1149P|PLEKHG4_uc002ess.4_Silent_p.P1149P|PLEKHG4_uc010ceg.3_Silent_p.P1068P NM_001129728 NP_056247 Q58EX7 PKHG4_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA. 1149 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) GCGGCCAGCCCTCTTTGAGTA 0.627000 20 11 0 0 0.000673444 0 0 ROBO4 54538 broad.mit.edu 37 11 124757690 124757690 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:124757690G>A uc001qbg.3 - 12 2135 c.1995C>T c.(1993-1995)tcC>tcT p.S665S ROBO4_uc010sas.2_Silent_p.S520S|ROBO4_uc001qbh.2_Silent_p.S555S|ROBO4_uc001qbi.3_Silent_p.S223S|ROBO4_uc010sat.1_Silent_p.S223S NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA. 665 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GGAGCTCCAAGGAGTGGCTGC 0.577000 18 13 0 0 0.00400662 0 0 OR51A7 119687 broad.mit.edu 37 11 4929511 4929511 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:4929511G>A uc010qyq.2 + 0 912 c.912G>A c.(910-912)ggG>ggA p.G304G NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA. 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGATCTTGGGGAAGTTGCTTA 0.393000 41 15 0 0 0.00316338 0 0 ELTD1 64123 broad.mit.edu 37 1 79383582 79383582 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:79383582G>A uc001diq.4 - 10 1771 c.1615C>T c.(1615-1617)Cta>Tta p.L539L NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 539 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding p.Y538Y(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GCTGGGCTTAGATAGCCAAAG 0.383000 109 106 0 0 0.00361006 0 0 CYP4F3 4051 broad.mit.edu 37 19 15752225 15752225 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:15752225G>A uc010xok.2 + 2 50 c.0_splice c.e2-1 CYP4F3_uc010xol.2_Splice_Site|CYP4F3_uc002nbj.3_Splice_Site|CYP4F3_uc010xom.2_Splice_Site|CYP4F3_uc002nbk.3_5'UTR NM_001199208 NP_001186137 Q08477 CP4F3_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA. leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TGCCCTGCAGGATGCCACAGC 0.677000 32 19 0 0 0.00152264 0 0 SCAI 286205 broad.mit.edu 37 9 127828290 127828290 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:127828290C>T uc004bpd.3 - 2 268 c.146G>A c.(145-147)aGa>aAa p.R49K SCAI_uc004bpe.3_Intron|SCAI_uc010mwu.3_Intron NM_173690 NP_775961 Q8N9R8 SCAI_HUMAN Homo sapiens suppressor of cancer cell invasion (SCAI), transcript variant 1, mRNA. 32 Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity). negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 atgttgatatctttccccttg 0.294000 84 59 0 0 0.00361006 0 0 NAIF1 203245 broad.mit.edu 37 9 130828896 130828896 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:130828896G>A uc004bta.3 - 0 704 c.485C>T c.(484-486)gCc>gTc p.A162V SLC25A25_uc004btb.3_5'Flank NM_197956 NP_931045 Q69YI7 NAIF1_HUMAN Homo sapiens nuclear apoptosis inducing factor 1 (NAIF1), mRNA. 162 apoptosis|induction of apoptosis nucleus central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CGTGGCTGCGGCTGCGGTGGC 0.657000 20 20 0 0 0.00188189 0 0 CTSS 1520 broad.mit.edu 37 1 150722515 150722515 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:150722515C>T uc001evn.3 - 5 1021 c.760G>A c.(760-762)Gcg>Acg p.A254T CTSS_uc010pcj.2_Missense_Mutation_p.A204T NM_004079 NP_004070 P25774 CATS_HUMAN Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA. 254 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) GGATGACGCGCATCTACACCA 0.398000 26 11 0 0 0.00136819 0 0 MICALL1 85377 broad.mit.edu 37 22 38323579 38323579 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:38323579C>T uc003aui.3 + 8 1902 c.1627C>T c.(1627-1629)Cat>Tat p.H543Y NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN Homo sapiens MICAL-like 1 (MICALL1), mRNA. 543 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) GCCTGCTGTCCATGCCCCTGG 0.617000 60 32 0 0 0.0024448 0 0 MUC16 94025 broad.mit.edu 37 19 9088636 9088636 + Missense_Mutation SNP C T T rs148517753 by1000genomes TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9088636C>T uc002mkp.3 - 0 3383 c.3179G>A c.(3178-3180)gGa>gAa p.G1060E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1060 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 AGCTGTGGTTCCAATGGGCAG 0.483000 67 44 0 0 0.00361006 0 0 ART3 419 broad.mit.edu 37 4 77003064 77003064 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:77003064C>T uc003hjo.3 + 2 291 c.157C>T c.(157-159)Ccc>Tcc p.P53S ART3_uc003hji.3_Missense_Mutation_p.P53S|ART3_uc003hjj.3_Missense_Mutation_p.P53S|ART3_uc003hjk.3_Missense_Mutation_p.P53S|ART3_uc010ija.2_Missense_Mutation_p.P53S|ART3_uc003hjn.3_Missense_Mutation_p.P53S|ART3_uc003hjp.3_Intron|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Missense_Mutation_p.P23S|ART3_uc010ijc.3_Missense_Mutation_p.P23S|ART3_uc010ijd.3_Missense_Mutation_p.P23S NM_001130016 NP_001123488 Q13508 NAR3_HUMAN Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA. 53 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TAAATACGTTCCCCAACTGCT 0.413000 73 37 0 0 0.00428921 0 0 KRT6C 286887 broad.mit.edu 37 12 52864331 52864331 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:52864331C>T uc001sal.4 - 5 1209 c.1161G>A c.(1159-1161)atG>atA p.M387I NM_173086 NP_775109 P48668 K2C6C_HUMAN Homo sapiens keratin 6C (KRT6C), mRNA. 387 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity p.R386C(1) cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) GCCTCTGGATCATGCGGTTGA 0.547000 79 29 0 0 0.00127121 0 0 KRT13 3860 broad.mit.edu 37 17 39659251 39659251 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:39659251C>T uc002hwu.1 - 3 898 c.835G>A c.(835-837)Gag>Aag p.E279K KRT13_uc002hwv.1_Missense_Mutation_p.E279K|KRT13_uc010wfr.2_Missense_Mutation_p.E172K|KRT13_uc010cxo.3_Missense_Mutation_p.E279K|KRT13_uc021txk.1_Missense_Mutation_p.E172K NM_153490 NP_705694 P13646 K1C13_HUMAN Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA. 279 Coil 2.|Rod. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) TCGTACTGCTCCCTCATCTCT 0.602000 134 104 0 0 0.00361006 0 0 DDX23 9416 broad.mit.edu 37 12 49237775 49237775 + Silent SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:49237775G>T uc001rsm.3 - 2 359 c.268C>A c.(268-270)Cga>Aga p.R90R NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA. 90 Arg-rich. U5 snRNP|catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding p.R90R(2) NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 TCTCGATCTCGGTCCTTCTTA 0.488000 218 7 2.17888e-05 6.83598e-05 0.000442599 1 0 HELQ 113510 broad.mit.edu 37 4 84339324 84339324 + Missense_Mutation SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:84339324C>A uc003hom.3 - 15 3164 c.2985G>T c.(2983-2985)ttG>ttT p.L995F HELQ_uc010ikb.3_Missense_Mutation_p.L928F|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN Homo sapiens helicase, POLQ-like (HELQ), mRNA. 995 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 TAAGTTCTACCAAAAGGGCTC 0.363000 Other identified genes with known or suspected DNA repair function 190 7 0.00198382 0.00617672 0.00198382 1 0 TCP11 6954 broad.mit.edu 37 6 35088283 35088283 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:35088283G>A uc003okd.2 - 6 1076 c.895C>T c.(895-897)Ctc>Ttc p.L299F TCP11_uc003ojz.1_Missense_Mutation_p.L224F|TCP11_uc003oka.2_Missense_Mutation_p.L224F|TCP11_uc003okb.2_Missense_Mutation_p.L223F|TCP11_uc011dsu.1_Missense_Mutation_p.L281F|TCP11_uc003okc.2_Missense_Mutation_p.L223F|TCP11_uc011dsv.1_Missense_Mutation_p.L248F|TCP11_uc011dsw.1_Missense_Mutation_p.L253F NM_001093728 NP_001087197 Q8WWU5 TCP11_HUMAN Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA. 286 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 GTGGGGCTGAGGGGCTCTGGG 0.572000 80 35 0 0 0.00375469 0 0 FOLH1 2346 broad.mit.edu 37 11 49190808 49190808 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:49190808C>T uc001ngy.3 - 11 1572 c.1311G>A c.(1309-1311)gaG>gaA p.E437E FOLH1_uc009yly.3_Silent_p.E422E|FOLH1_uc009ylz.3_Silent_p.E422E|FOLH1_uc001ngz.3_Silent_p.E437E|FOLH1_uc009yma.3_Silent_p.E129E NM_004476 NP_001180402 Q04609 FOLH1_HUMAN Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA. 437 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) GTCTTGAATTCTCCTATAATA 0.343000 36 15 0 0 0.000958276 0 0 SCN2A 6326 broad.mit.edu 37 2 166188051 166188051 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:166188051C>T uc002udc.3 + 13 2651 c.2361C>T c.(2359-2361)ttC>ttT p.F787F SCN2A_uc002udd.3_Silent_p.F787F|SCN2A_uc002ude.3_Silent_p.F787F NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 787 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) CGGAGCAGTTCAGCAGTGTAC 0.428000 30 16 0 0 0.000566183 0 0 MSR1 4481 broad.mit.edu 37 8 16026357 16026357 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:16026357C>T uc010lsu.3 - 3 358 c.294G>A c.(292-294)acG>acA p.T98T MSR1_uc003wwz.3_Silent_p.T80T|MSR1_uc003wxa.3_Silent_p.T80T|MSR1_uc003wxb.3_Silent_p.T80T|MSR1_uc011kxz.2_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA. 80 Spacer (Probable). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) AGCAATTCTTCGTTTCCCACT 0.383000 59 24 0 0 0.00278032 0 0 ZP2 7783 broad.mit.edu 37 16 21218165 21218165 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:21218165G>A uc010bwn.1 - 4 676 c.594C>T c.(592-594)ttC>ttT p.F198F ZP2_uc002dii.2_Silent_p.F159F|ZP2_uc010bwo.3_Silent_p.F198F NM_003460 NP_003451 Q05996 ZP2_HUMAN Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA. 159 binding of sperm to zona pellucida|intracellular protein transport Golgi apparatus|endoplasmic reticulum|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) TCACAGACATGAAATCCTTCT 0.493000 61 40 0 0 0.00170553 0 0 GP1BA 2811 broad.mit.edu 37 17 4836164 4836164 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:4836164G>A uc021tnz.1 + 1 340 c.265G>A c.(265-267)Gat>Aat p.D89N GP1BA_uc021toa.1_Non-coding_Transcript|GP1BA_uc021tob.1_Missense_Mutation_p.D89N NM_000173 NP_000164 E7ES66 E7ES66_HUMAN Homo sapiens glycoprotein Ib (platelet), alpha polypeptide (GP1BA), mRNA. 89 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 GCTCCAGGTCGATGGGACGCT 0.587000 17 29 0 0 0.00178596 0 0 PCDHB9 56127 broad.mit.edu 37 5 140568504 140568504 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140568504C>T uc003liw.1 + 1 1610 c.1610C>T c.(1609-1611)tCc>tTc p.S537F NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN Homo sapiens protocadherin beta 9 (PCDHB9), mRNA. 538 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACCGCGGCTCCCCGGCTTTG 0.672000 58 19 0 0 0.000958276 0 0 PRSS50 29122 broad.mit.edu 37 3 46753940 46753940 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:46753940C>T uc003cqe.1 - 5 1436 c.954G>A c.(952-954)atG>atA p.M318I PRSS50_uc021wxe.1_Missense_Mutation_p.M318I|PRSS50_uc003cqf.2_Missense_Mutation_p.M232I NM_013270 NP_037402 Q9UI38 TSP50_HUMAN Homo sapiens protease, serine, 50 (PRSS50), mRNA. 318 Peptidase S1. proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 ACGTGCCCTCCATGGAGCAGA 0.627000 5 14 0 0 0.00400662 0 0 OR12D3 81797 broad.mit.edu 37 6 29342447 29342447 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:29342447C>T uc003nme.3 - 0 622 c.618G>A c.(616-618)atG>atA p.M206I NM_030959 NP_112221 Q9UGF7 O12D3_HUMAN Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA. 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 AGAAAGCTCCCATGGATATGC 0.443000 59 16 0 0 0.00074312 0 0 TEX15 56154 broad.mit.edu 37 8 30703036 30703036 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:30703036G>A uc003xil.3 - 0 3498 c.3498C>T c.(3496-3498)ccC>ccT p.P1166P NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 1166 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTCCAGAAAAGGGCTGATGTT 0.358000 40 16 0 0 0.00316338 0 0 CACNG3 10368 broad.mit.edu 37 16 24373007 24373007 + Silent SNP C T T rs144805488 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:24373007C>T uc002dmf.3 + 3 1973 c.771C>T c.(769-771)atC>atT p.I257I NM_006539 NP_006530 O60359 CCG3_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA. 257 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) TCCACACCATCCCTTCCACTG 0.592000 50 16 0 0 0.00316338 0 0 TXNDC11 51061 broad.mit.edu 37 16 11785896 11785897 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:11785896_11785897GG>AA uc010buu.1 - 8 1292_1293 c.1230_1231CC>TT c.(1228-1233)gaccag>gaTTag p.Q411* TXNDC11_uc002dbg.1_Nonsense_Mutation_p.Q384* NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA. 411 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane p.A410A(1) endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 TCCACCACCTGGTCCCCATGAC 0.619000 20 15 0 0 6.4e-05 0 0 ZNF554 115196 broad.mit.edu 37 19 2832352 2832352 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:2832352C>T uc002lwm.2 + 3 503 c.305C>T c.(304-306)tCc>tTc p.S102F ZNF554_uc002lwl.2_Missense_Mutation_p.S51F NM_001102651 NP_001096121 Q86TJ5 ZN554_HUMAN Homo sapiens zinc finger protein 554 (ZNF554), mRNA. 102 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 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) GGTCCACTTTCCCCAGCACAA 0.438000 98 40 0 0 0.00170553 0 0 RGL2 5863 broad.mit.edu 37 6 33264882 33264882 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:33264882G>A uc003odv.3 - 2 727 c.167C>T c.(166-168)tCc>tTc p.S56F RGL2_uc003odu.3_5'Flank|RGL2_uc010jur.3_5'UTR|RGL2_uc003odw.3_5'UTR|RGL2_uc011drb.2_5'UTR NM_004761 NP_001230667 O15211 RGL2_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA. 56 Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 ATCCCAGACGGACACAGGGGC 0.582000 61 16 0 0 0.00074312 0 0 CRY2 1408 broad.mit.edu 37 11 45868999 45868999 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:45868999C>T uc010rgn.2 + 0 43 c.21C>T c.(19-21)gcC>gcT p.A7A CRY2_uc009ykw.3_Intron NM_021117 NP_066940 Q49AN0 CRY2_HUMAN Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA. 0 DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 TCCACGTCGCCTACCGGGGCG 0.736000 8 7 0 0 0.000274275 0 0 ISLR 3671 broad.mit.edu 37 15 74467805 74467805 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:74467805C>T uc002axg.1 + 1 888 c.606C>T c.(604-606)atC>atT p.I202I ISLR_uc002axh.1_Silent_p.I202I|ISLR_uc021sqf.1_Silent_p.I202I NM_005545 NP_958934 O14498 ISLR_HUMAN Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA. 202 LRRCT. cell adhesion extracellular region p.I202T(1) central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 CCGTGTCCATCCCGGAGCAGG 0.662000 9 21 0 0 0.00278032 0 0 OR4X2 119764 broad.mit.edu 37 11 48267532 48267532 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:48267532C>T uc001ngs.1 + 0 877 c.877C>T c.(877-879)Ctg>Ttg p.L293L NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA. 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 CATGAAGAGGCTGTGGATTAG 0.438000 58 20 0 0 0.00278032 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768640 31768640 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:31768640C>T uc002yoa.3 + 0 249 c.236C>T c.(235-237)tCc>tTc p.S79F NM_181599 NP_853630 Q8IUC0 KR131_HUMAN Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA. 79 5 X 10 AA approximate repeats. intermediate filament endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGCCAGACCTCCTGCTACCGT 0.607000 38 19 0 0 0.00188189 0 0 SACS 26278 broad.mit.edu 37 13 23908108 23908108 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:23908108G>A uc001uon.2 - 9 10496 c.9907C>T c.(9907-9909)Cct>Tct p.P3303S SACS_uc001uoo.2_Missense_Mutation_p.P3156S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 3303 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AGGCTGAGAGGAAGCAGAACA 0.418000 43 18 0 0 0.000958276 0 0 PHC3 80012 broad.mit.edu 37 3 169820598 169820598 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:169820598G>A uc003fgl.2 - 12 2627 c.2593C>T c.(2593-2595)Ctt>Ttt p.L865F PHC3_uc010hws.1_Missense_Mutation_p.L853F|PHC3_uc011bpq.1_Missense_Mutation_p.L812F NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA. 853 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) ACCTGCCTAAGGATATGTTCT 0.443000 32 18 0 0 0.00188189 0 0 MYH8 4626 broad.mit.edu 37 17 10299869 10299869 + Splice_Site SNP C G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10299869C>G uc002gmm.2 - 32 4623 c.4528_splice c.e32+1 p.Q1510_splice AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1510 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin 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 TGAGGACTCACGTTGCAAGTT 0.463000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 8 10 0 0 0.000442599 0 0 CTU1 90353 broad.mit.edu 37 19 51602353 51602353 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:51602353G>A uc010eop.3 - 2 617 c.552C>T c.(550-552)ttC>ttT p.F184F NM_145232 NP_660275 Q7Z7A3 CTU1_HUMAN Homo sapiens cytosolic thiouridylase subunit 1 homolog (S. pombe) (CTU1), mRNA. 184 tRNA thio-modification|tRNA wobble uridine modification cytosol ATP binding|protein binding|tRNA binding|transferase activity large_intestine(2)|lung(1)|urinary_tract(1) 4 cgccccgTAGGAAGTTCATGA 0.766000 15 4 0 0 0.00024832 0 0 FAT3 120114 broad.mit.edu 37 11 92534702 92534702 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:92534702G>A uc001pdj.4 + 8 8540 c.8523G>A c.(8521-8523)atG>atA p.M2841I NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 2841 Cadherin 26. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTATTGATATGGACTGGGGAG 0.468000 TCGA Ovarian(4;0.039) 112 106 0 0 0.00361006 0 0 EPS8L2 64787 broad.mit.edu 37 11 723296 723296 + Missense_Mutation SNP C T T rs142895363 by1000genomes TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:723296C>T uc001lqt.3 + 14 1644 c.1397C>T c.(1396-1398)tCa>tTa p.S466L EPS8L2_uc001lqu.3_Missense_Mutation_p.S466L|EPS8L2_uc010qwk.2_Missense_Mutation_p.S482L|EPS8L2_uc001lqv.3_Missense_Mutation_p.S421L|EPS8L2_uc001lqw.3_Missense_Mutation_p.S78L|EPS8L2_uc001lqx.3_Missense_Mutation_p.S78L|EPS8L2_uc001lqy.3_5'Flank NM_022772 NP_073609 Q9H6S3 ES8L2_HUMAN Homo sapiens EPS8-like 2 (EPS8L2), mRNA. 466 cytoplasm NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGCCCCACTTCAGAGCCCACC 0.602000 OREG0020659 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 13 0 0 0.00400662 0 0 GORAB 92344 broad.mit.edu 37 1 170501292 170501292 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:170501292G>A uc001gha.2 + 0 30 c.3G>A c.(1-3)atG>atA p.M1I GORAB_uc009wvw.2_Missense_Mutation_p.M1I|GORAB_uc001ggz.4_Missense_Mutation_p.M1I|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR NM_152281 NP_689494 Q5T7V8 GORAB_HUMAN Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA. 1 Golgi apparatus|nucleus endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 AAACCCGGATGAGCTGGGCAG 0.662000 21 9 0 0 0.000274275 0 0 CATSPERG 57828 broad.mit.edu 37 19 38847151 38847151 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:38847151C>T uc002oih.4 + 9 1250 c.1163C>T c.(1162-1164)cCc>cTc p.P388L CATSPERG_uc002oig.4_Missense_Mutation_p.P388L|CATSPERG_uc002oif.4_Missense_Mutation_p.P28L|CATSPERG_uc010efw.3_Non-coding_Transcript NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA. 388 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 GAGATGCTGCCCAGGCAGTGG 0.597000 38 14 0 0 0.00244969 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769787 112769787 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:112769787G>A uc003kqm.2 - 0 942 c.750C>T c.(748-750)taC>taT p.Y250Y MCC_uc003kql.4_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA. 250 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) GCAGCATGTGGTAGATGAGGT 0.602000 27 13 0 0 0.00244969 0 0 TTN 7273 broad.mit.edu 37 2 179416592 179416592 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179416592C>T uc021vsy.1 - 283 83556 c.83331G>A c.(83329-83331)tgG>tgA p.W27777* MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W21472*|TTN_uc021vta.1_Nonsense_Mutation_p.W21405*|TTN_uc021vtb.1_Nonsense_Mutation_p.W21280* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 28704 Fibronectin type-III 102. 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) CTGGAGCATCCCAAGTTAGTG 0.408000 131 67 0 0 0.00361006 0 0 KDR 3791 broad.mit.edu 37 4 55956220 55956220 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:55956220C>T uc003has.3 - 22 3397 c.3095G>A c.(3094-3096)cGa>cAa p.R1032Q KDR_uc003hat.1_Missense_Mutation_p.R1032Q NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 1032 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|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.R1032Q(4)|p.R1032*(1) 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) GAGGATATTTCGTGCCGCCAG 0.448000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 55 29 0 0 0.0024448 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018662 161018662 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:161018662C>T uc001fxl.3 - 11 2495 c.2149G>A c.(2149-2151)Gaa>Aaa p.E717K USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Missense_Mutation_p.E563K|ARHGAP30_uc009wtx.3_Missense_Mutation_p.E390K NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA. 717 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GACTTCTCTTCCTTGGCCTCT 0.502000 140 77 0 0 0.00361006 0 0 NBEAL1 65065 broad.mit.edu 37 2 204000556 204000556 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:204000556G>A uc002uzt.3 + 26 4216 c.3883G>A c.(3883-3885)Gat>Aat p.D1295N NBEAL1_uc021vvj.1_5'UTR NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 1295 binding p.I1295M(1) NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GAAAGACAATGATAAAAATAT 0.348000 305 159 0 0 0.00361006 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996286 140996286 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:140996286G>A uc004fbt.3 + 3 3420 c.3096G>A c.(3094-3096)agG>agA p.R1032R MAGEC1_uc010nsl.2_Silent_p.R99R|MAGEC1_uc022cfi.1_Silent_p.R691R NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 1032 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GTGCTGGGAGGGAGCACTTTG 0.532000 HNSCC(15;0.026) 8 36 0 0 0.00128727 0 0 C20orf194 25943 broad.mit.edu 37 20 3297412 3297412 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:3297412G>A uc002wii.2 - 17 1548 c.1497C>T c.(1495-1497)tcC>tcT p.S499S C20orf194_uc002wij.3_Silent_p.S238S|C20orf194_uc002wik.2_Silent_p.S173S NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA. 499 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 TCAGGACTACGGAGCTGGTTT 0.537000 33 12 0 0 0.000566183 0 0 FMNL2 114793 broad.mit.edu 37 2 153482056 153482056 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:153482056G>A uc002tye.3 + 15 2309 c.1942G>A c.(1942-1944)Gat>Aat p.D648N FMNL2_uc010fob.3_Missense_Mutation_p.D104N|FMNL2_uc002tyf.3_Missense_Mutation_p.D97N NM_052905 NP_443137 Q96PY5 FMNL2_HUMAN Homo sapiens formin-like 2 (FMNL2), mRNA. 648 FH2. actin cytoskeleton organization cytoplasm Rho GTPase binding|actin binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 CAATGAAATTGATGATGAGCG 0.433000 50 12 0 0 0.00185496 0 0 MCHR2 84539 broad.mit.edu 37 6 100390994 100390994 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:100390994G>A uc003pqh.1 - 3 733 c.418C>T c.(418-420)Cga>Tga p.R140* MCHR2_uc003pqi.1_Nonsense_Mutation_p.R140* NM_001040179 NP_115892 Q969V1 MCHR2_HUMAN Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA. 140 integral to membrane|plasma membrane G-protein coupled receptor activity p.R140*(2) 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) CGTGTCAGTCGAAATGGTTGG 0.478000 70 34 0 0 0.00375469 0 0 FCRL6 343413 broad.mit.edu 37 1 159777981 159777981 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:159777981C>T uc001fud.4 + 2 108 c.66C>T c.(64-66)ctC>ctT p.L22L FCRL6_uc010pix.1_Silent_p.L17L|FCRL6_uc001fuc.2_Silent_p.L29L|FCRL6_uc009wsz.1_Silent_p.L22L|FCRL6_uc009wta.3_Silent_p.L22L NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Homo sapiens Fc receptor-like 6 (FCRL6), mRNA. 22 Ig-like C2-type 1. integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) GGCTGTACCTCCAAGCCTGGC 0.562000 26 13 0 0 0.000566183 0 0 ACSL6 23305 broad.mit.edu 37 5 131308513 131308513 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:131308513G>A uc003kvx.2 - 12 1351 c.1242C>T c.(1240-1242)ctC>ctT p.L414L ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Silent_p.L379L|ACSL6_uc003kvy.2_Silent_p.L414L|ACSL6_uc003kvz.2_Silent_p.L314L|ACSL6_uc021ydh.1_Silent_p.L314L|ACSL6_uc010jdo.2_Silent_p.L389L|ACSL6_uc003kwa.2_Silent_p.L400L|ACSL6_uc003kvw.2_Silent_p.L35L|ACSL6_uc010jdn.2_Silent_p.L404L NM_015256 NP_001192177 Q9UKU0 ACSL6_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA. 389 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAAACTCCAGGAGCCAGCGCT 0.453000 50 24 0 0 0.000878237 0 0 ZNF318 24149 broad.mit.edu 37 6 43322558 43322558 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:43322558G>A uc003oux.3 - 3 2592 c.2514C>T c.(2512-2514)atC>atT p.I838I ZNF318_uc003ouw.3_Non-coding_Transcript NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN Homo sapiens zinc finger protein 318 (ZNF318), mRNA. 838 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TCACAGTGGGGATCACACGAA 0.512000 47 16 0 0 0.00152264 0 0 PRKCQ 5588 broad.mit.edu 37 10 6483980 6483980 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:6483980C>T uc001iji.1 - 14 1894 c.1810G>A c.(1810-1812)Gaa>Aaa p.E604K PRKCQ_uc001ijj.2_Missense_Mutation_p.E571K|PRKCQ_uc009xim.2_Intron|PRKCQ_uc009xin.2_Missense_Mutation_p.E535K|PRKCQ_uc010qax.2_Missense_Mutation_p.E446K NM_006257 NP_006248 Q04759 KPCT_HUMAN Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA. 571 Protein kinase. T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 ATCAGCATTTCATAAAGGAGA 0.512000 46 12 0 0 0.00185496 0 0 HLA-DRB5 3127 broad.mit.edu 37 6 32487313 32487313 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32487313C>T uc003obj.3 - 2 491 c.486G>A c.(484-486)cgG>cgA p.R162R HLA-DRB5_uc003obk.4_Silent_p.R162R NM_002125 NP_002116 Q30154 DRB5_HUMAN Homo sapiens major histocompatibility complex, class II, DR beta 5 (HLA-DRB5), mRNA. 162 Beta-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2) 10 CCTGGCTGTTCCGGAACCACC 0.552000 189 23 0 0 0.00209593 0 0 C12orf63 374467 broad.mit.edu 37 12 97078503 97078503 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:97078503G>A uc021rcc.1 + 7 1147 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 357 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 CATCTTCGCAGAAAAGAAAAG 0.323000 84 29 0 0 0.001512 0 0 CXCL3 2921 broad.mit.edu 37 4 74903826 74903826 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:74903826C>T uc003hhl.3 - 2 454 c.292G>A c.(292-294)Gaa>Aaa p.E98K NM_002090 NP_002081 P19876 CXCL3_HUMAN Homo sapiens chemokine (C-X-C motif) ligand 3 (CXCL3), mRNA. 98 immune response|inflammatory response|neutrophil chemotaxis extracellular space chemokine activity central_nervous_system(1)|endometrium(1) 2 Breast(15;0.00612) all cancers(17;0.00273)|Lung(101;0.196) AGTATCTTTTCGATGATTTTC 0.468000 36 13 0 0 0.00136819 0 0 MUSK 4593 broad.mit.edu 37 9 113563252 113563252 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:113563252G>A uc022blv.1 + 14 2728 c.2594G>A c.(2593-2595)gGa>gAa p.G865E MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.G776E|MUSK_uc022blu.1_Missense_Mutation_p.G766E NM_005592 NP_005583 O15146 MUSK_HUMAN Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA. 865 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 AGGGCAGAGGGAACTGTGAGT 0.493000 24 9 0 0 0.000673444 0 0 INSRR 3645 broad.mit.edu 37 1 156814028 156814028 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:156814028G>A uc010pht.2 - 14 3081 c.2782C>T c.(2782-2784)Cct>Tct p.P928S NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 928 P -> L (in dbSNP:rs56252149). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity p.P928L(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGCCCCACAGGGGTGGCAGTG 0.582000 32 7 0 0 0.00198382 0 0 FREM2 341640 broad.mit.edu 37 13 39450237 39450237 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:39450237C>T uc001uwv.3 + 18 8669 c.8360C>T c.(8359-8361)cCa>cTa p.P2787L NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 2787 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AGGAGTGAACCAACCTATAAC 0.443000 124 49 0 0 0.00361006 0 0 CCDC62 84660 broad.mit.edu 37 12 123273346 123273346 + Nonsense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:123273346T>A uc001udc.3 + 4 702 c.540T>A c.(538-540)tgT>tgA p.C180* CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Intron|CCDC62_uc021rfn.1_5'UTR NM_201435 NP_958843 Q6P9F0 CCD62_HUMAN Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA. 180 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) TTGCAGATTGTTCGGGTAAAT 0.348000 66 24 0 0 0.000720815 0 0 BAI3 577 broad.mit.edu 37 6 70064197 70064197 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:70064197C>T uc010kak.3 + 25 3808 c.3532C>T c.(3532-3534)Cct>Tct p.P1178S BAI3_uc003pev.4_Missense_Mutation_p.P1178S|BAI3_uc011dxx.2_Missense_Mutation_p.P384S NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 1178 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GAGTTCGTTTCCTAATGGGCA 0.383000 94 39 0 0 0.00222228 0 0 TRPC1 7220 broad.mit.edu 37 3 142523420 142523420 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:142523420G>A uc003evc.3 + 11 2238 c.2102G>A c.(2101-2103)tGg>tAg p.W701* TRPC1_uc003evb.3_Nonsense_Mutation_p.W667* NM_001251845 NP_001238774 P48995 TRPC1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA. 701 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 CTCAGTAAGTGGATTTGCTCT 0.373000 49 24 0 0 0.001512 0 0 RNF157 114804 broad.mit.edu 37 17 74151703 74151703 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:74151703C>T uc002jqz.3 - 14 1707 c.1638G>A c.(1636-1638)gaG>gaA p.E546E RNF157_uc002jra.3_Silent_p.E546E|DQ570973_uc002jrb.1_5'Flank NM_052916 NP_443148 Q96PX1 RN157_HUMAN Homo sapiens ring finger protein 157 (RNF157), mRNA. 546 zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 25 LUSC - Lung squamous cell carcinoma(166;0.187) CCTCTCCCTCCTCTTCAGTGC 0.617000 29 7 0 0 0.00307968 0 0 AXDND1 126859 broad.mit.edu 37 1 179460692 179460692 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:179460692C>T uc001gmo.3 + 18 2498 c.2111C>T c.(2110-2112)tCt>tTt p.S704F AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.S662F|AXDND1_uc009wxh.3_Non-coding_Transcript NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA. 704 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 TTACATATATCTATGATCCAG 0.318000 39 16 0 0 0.00074312 0 0 GRM3 2913 broad.mit.edu 37 7 86469060 86469060 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:86469060G>A uc003uid.3 + 3 3329 c.2230G>A c.(2230-2232)Gat>Aat p.D744N GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.D616N|GRM3_uc010leh.3_Missense_Mutation_p.D336N NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 744 synaptic transmission integral to plasma membrane p.Y743Y(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TCTTACCTACGATGTGATCCT 0.463000 35 16 0 0 0.00400662 0 0 GPR115 221393 broad.mit.edu 37 6 47681824 47681824 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:47681824G>A uc003oyz.1 + 6 1014 c.1014G>A c.(1012-1014)agG>agA p.R338R GPR115_uc003oza.1_Silent_p.R281R|GPR115_uc003ozb.1_Silent_p.R281R|RN7SK_uc021zaf.1_5'Flank NM_153838 NP_722580 Q8IZF3 GP115_HUMAN Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA. 281 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.E337>?(1) NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 AAGAGCTAAGGAAGCTGTGGC 0.463000 36 17 0 0 0.000958276 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140167741 140167741 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140167741C>T uc003lhb.2 + 0 1866 c.1866C>T c.(1864-1866)ttC>ttT p.F622F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.F622F NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 633 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATCCCGTTCCGCGTGGGGC 0.657000 43 25 0 0 0.000878237 0 0 ACP1 52 broad.mit.edu 37 2 272128 272128 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:272128C>T uc002qwf.3 + 2 305 c.209C>T c.(208-210)cCc>cTc p.P70L ACP1_uc002qwd.2_Missense_Mutation_p.P70L|ACP1_uc002qwe.4_Intron|ACP1_uc002qwg.3_Intron|ACP1_uc002qwh.3_Intron NM_004300 NP_004291 P24666 PPAC_HUMAN Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 3, mRNA. 70 cytoplasm|internal side of plasma membrane|nucleus|soluble fraction acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236) all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127) CACGGCATTCCCATGAGCCAC 0.577000 38 20 0 0 0.00229938 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100004371 100004371 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:100004371G>A uc003uut.3 - 11 1364 c.1116C>T c.(1114-1116)atC>atT p.I372I ZCWPW1_uc011kjq.2_Silent_p.I252I|ZCWPW1_uc003uur.3_Silent_p.I252I|ZCWPW1_uc003uus.3_Silent_p.I252I|ZCWPW1_uc011kjr.2_Silent_p.I372I|ZCWPW1_uc003uuu.1_Silent_p.I373I|ZCWPW1_uc011kjp.2_Non-coding_Transcript NM_017984 NP_060454 Q9H0M4 ZCPW1_HUMAN Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA. 372 PWWP. zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGTTGACTGGGATCCATGCAC 0.448000 61 19 0 0 0.00152264 0 0 MED13L 23389 broad.mit.edu 37 12 116445418 116445418 + Missense_Mutation SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:116445418C>A uc001tvw.3 - 10 2091 c.2036G>T c.(2035-2037)cGg>cTg p.R679L NM_015335 NP_056150 Q71F56 MD13L_HUMAN Homo sapiens mediator complex subunit 13-like (MED13L), mRNA. 679 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent p.R679L(2) NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GATTTTAAACCGTTTGTTAGG 0.368000 138 6 0.00198382 0.00617672 0.00198382 1 0 BC128131 0 broad.mit.edu 37 19 23159500 23159500 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:23159500G>A uc002nqz.1 - 1 473 c.447C>T c.(445-447)tcC>tcT p.S149S BC128131_uc002nqy.1_Non-coding_Transcript Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371). TAAGGGCTGAGGACCAGTTAA 0.368000 36 12 0 0 0.00136819 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19419839 19419839 + RNA SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:19419839A>T uc010tcj.1 - 0 c.26271T>A Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. TACTAAAGCAAAAAAAAACCT 0.284000 74 12 0 0 0.00136819 0 0 OR5H2 79310 broad.mit.edu 37 3 98002051 98002051 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:98002051T>A uc003dsj.1 + 0 320 c.320T>A c.(319-321)tTt>tAt p.F107Y NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA. 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 ATTCAATTTTTTTCCTTTGCA 0.368000 79 44 0 0 0.00361006 0 0 GRM3 2913 broad.mit.edu 37 7 86416063 86416064 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:86416063_86416064GG>AA uc003uid.3 + 2 2054_2055 c.955_956GG>AA c.(955-957)ggc>AAc p.G319N GRM3_uc010lef.3_Missense_Mutation_p.G317N|GRM3_uc010leg.3_Missense_Mutation_p.G191N|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 319 synaptic transmission integral to plasma membrane p.Y318*(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGTGGCCTACGGCGCCATCACC 0.673000 20 12 0 0 6.4e-05 0 0 ITIH5 80760 broad.mit.edu 37 10 7608105 7608105 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:7608105G>A uc021pmv.1 - 12 2521 c.2415C>T c.(2413-2415)gcC>gcT p.A805A ITIH5_uc021pmu.1_Silent_p.A591A NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA. 805 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 GGATGACAAAGGCTATGGAGC 0.602000 30 10 0 0 0.000673444 0 0 RBM46 166863 broad.mit.edu 37 4 155718033 155718033 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:155718033G>A uc003ioo.3 + 1 302 c.129G>A c.(127-129)agG>agA p.R43R RBM46_uc011cim.1_Silent_p.R43R|RBM46_uc003iop.1_Silent_p.R43R NM_144979 NP_659416 Q8TBY0 RBM46_HUMAN Homo sapiens RNA binding motif protein 46 (RBM46), mRNA. 43 RNA binding|nucleotide binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) ATGGACAAAGGAAATTTGGCG 0.383000 49 22 0 0 0.000720815 0 0 ARID2 196528 broad.mit.edu 37 12 46230691 46230691 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:46230691C>T uc001ros.1 + 7 940 c.940C>T c.(940-942)Cgt>Tgt p.R314C ARID2_uc001ror.3_Missense_Mutation_p.R314C|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 314 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.R314S(2)|p.R314C(2)|p.L313L(1) 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) TACCTGTCTTCGTTTCCTATT 0.398000 """N, S, F""" hepatocellular carcinoma 73 30 0 0 0.001512 0 0 PCSK5 5125 broad.mit.edu 37 9 78711007 78711007 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:78711007G>A uc004akc.2 + 7 1634 c.1096G>A c.(1096-1098)Gat>Aat p.D366N PCSK5_uc004ajy.2_Missense_Mutation_p.D366N|PCSK5_uc004ajz.3_Missense_Mutation_p.D366N|PCSK5_uc004aka.3_Non-coding_Transcript NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 366 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GGAGTCCTACGATAAGAAAAT 0.428000 18 19 0 0 0.00188189 0 0 RC3H2 54542 broad.mit.edu 37 9 125622240 125622240 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:125622240G>A uc010mwc.1 - 10 2046 c.1805C>T c.(1804-1806)cCa>cTa p.P602L RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.P602L|RC3H2_uc004bne.4_Missense_Mutation_p.P602L NM_001100588 NP_001094058 Q9HBD1 RC3H2_HUMAN Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA. 602 Pro-rich. cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 CTGAGTCCTTGGATCTTGAAA 0.378000 168 150 0 0 0.00361006 0 0 HJURP 55355 broad.mit.edu 37 2 234749336 234749336 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:234749336G>A uc002vvg.3 - 7 2156 c.2090C>T c.(2089-2091)tCc>tTc p.S697F HJURP_uc010znd.2_Missense_Mutation_p.S636F|HJURP_uc010zne.2_Missense_Mutation_p.S605F NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Homo sapiens Holliday junction recognition protein (HJURP), mRNA. 697 CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) GGCACCCAGGGAATTGCCCTG 0.597000 73 19 0 0 0.00121646 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T C C rs11554290 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 82 92 0 0 0.00361006 0 0 MYH8 4626 broad.mit.edu 37 17 10295881 10295881 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10295881C>T uc002gmm.2 - 37 5641 c.5546G>A c.(5545-5547)cGa>cAa p.R1849Q AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1849 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle p.R1848*(1) 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 TTCTTTTACTCGTCGCTCATG 0.403000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 66 43 0 0 0.00361006 0 0 RSPH3 83861 broad.mit.edu 37 6 159420880 159420880 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:159420880C>T uc003qrx.3 - 0 319 c.129G>A c.(127-129)ggG>ggA p.G43G RSPH3_uc010kju.3_Silent_p.G43G NM_031924 NP_114130 Q86UC2 RSPH3_HUMAN Homo sapiens radial spoke 3 homolog (Chlamydomonas) (RSPH3), mRNA. 43 p.P42P(1) endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) CCCCAGGTTTCCCGGGAAGGA 0.687000 20 6 0 0 0.00198382 0 0 TACC2 10579 broad.mit.edu 37 10 123845785 123845785 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:123845785C>T uc001lfv.3 + 3 4130 c.3770C>T c.(3769-3771)tCc>tTc p.S1257F TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.S1257F|TACC2_uc010qtv.2_Missense_Mutation_p.S1257F NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 1257 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AAAGCTGTTTCCTCTGCAGAC 0.592000 31 25 0 0 0.000878237 0 0 PLCH1 23007 broad.mit.edu 37 3 155200480 155200480 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:155200480T>A uc021xge.1 - 22 3636 c.3359A>T c.(3358-3360)aAa>aTa p.K1120I PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.K1082I NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 1120 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity p.M1120I(1) 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) CAAGATGCTTTTCCCTTCCAC 0.458000 62 22 0 0 0.00152264 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30682330 30682330 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:30682330G>A uc003ahd.3 - 5 795 c.665C>T c.(664-666)cCc>cTc p.P222L TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Intron|TBC1D10A_uc003ahi.3_Intron|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc010gvr.3_3'UTR NM_001037666 NP_001032755 Q9BXI6 TB10A_HUMAN Homo sapiens GATS protein-like 3 (GATSL3), mRNA. 0 Rab-GAP TBC. intracellular|microvillus PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 GATGGAGCTGGGTTCAGGACT 0.582000 43 23 0 0 0.000720815 0 0 MUC16 94025 broad.mit.edu 37 19 9067129 9067129 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9067129G>A uc002mkp.3 - 2 20521 c.20317C>T c.(20317-20319)Cca>Tca p.P6773S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6775 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 TCTGAGTGTGGAAATTCCTGA 0.488000 160 48 0 0 0.00361006 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558458 106558458 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:106558458G>A uc009yxn.1 - 8 2499 c.2109C>T c.(2107-2109)ttC>ttT p.F703F GUCY1A2_uc001pjg.1_Silent_p.F672F|GUCY1A2_uc010rvo.1_Silent_p.F693F NM_000855 NP_000846 P33402 GCYA2_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA. 672 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GAATGAATGTGAAACTTTCTT 0.408000 43 34 0 0 0.00327116 0 0 ARID2 196528 broad.mit.edu 37 12 46230641 46230641 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:46230641C>T uc001ros.1 + 7 890 c.890C>T c.(889-891)tCc>tTc p.S297F ARID2_uc001ror.3_Missense_Mutation_p.S297F|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 297 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) AGAAATCTTTCCTTTGAGGAG 0.398000 """N, S, F""" hepatocellular carcinoma 68 28 0 0 0.001512 0 0 MS4A6A 64231 broad.mit.edu 37 11 59942973 59942973 + Silent SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:59942973A>G uc010rla.2 - 5 1008 c.535T>C c.(535-537)Ttg>Ctg p.L179L MS4A6A_uc001noq.3_Intron|MS4A6A_uc009ymv.3_Silent_p.L151L|MS4A6A_uc001not.3_Silent_p.L151L|MS4A6A_uc010rlb.2_Silent_p.L106L NM_001247999 NP_001234928 Q9H2W1 M4A6A_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA. 151 integral to membrane receptor activity endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTTTTGTCCAACTCACACTGC 0.438000 21 13 0 0 0.00185496 0 0 IBTK 25998 broad.mit.edu 37 6 82924094 82924095 + Missense_Mutation DNP AC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:82924094_82924095AC>TT uc003pjl.1 - 11 2580_2581 c.2053_2054GT>AA c.(2053-2055)gtt>AAt p.V685N IBTK_uc011dyv.1_Missense_Mutation_p.V685N|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Missense_Mutation_p.V379N|IBTK_uc003pjm.2_Missense_Mutation_p.V685N NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA. 685 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) ACTTTTGTAAACTTCAAATGCA 0.332000 78 23 0 0 6.4e-05 0 0 BCL11A 53335 broad.mit.edu 37 2 60688963 60688963 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:60688963G>A uc002sae.1 - 3 1312 c.1084C>T c.(1084-1086)Cct>Tct p.P362S BCL11A_uc002sab.3_Missense_Mutation_p.P362S|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.P328S|BCL11A_uc002sad.1_Missense_Mutation_p.P210S|BCL11A_uc002saf.1_Missense_Mutation_p.P328S NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 362 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GATTGCAGAGGAGGGAGGGGG 0.637000 T IGH@ B-CLL 124 88 0 0 0.00361006 0 0 AK5 26289 broad.mit.edu 37 1 77987620 77987620 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:77987620G>A uc001dhn.3 + 11 1757 c.1420G>A c.(1420-1422)Gga>Aga p.G474R AK5_uc001dho.3_Missense_Mutation_p.G448R NM_174858 NP_036225 Q9Y6K8 KAD5_HUMAN Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA. 474 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 GGAAGAGTTCGGACGCAGGGT 0.527000 38 16 0 0 0.000958276 0 0 ANKH 56172 broad.mit.edu 37 5 14751205 14751205 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:14751205G>A uc003jfm.4 - 4 991 c.660C>T c.(658-660)atC>atT p.I220I NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA. 220 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 TTCTGTCAGGGATGATGTCGT 0.542000 40 18 0 0 0.000958276 0 0 OR2L3 391192 broad.mit.edu 37 1 248223987 248223987 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:248223987G>A uc001idx.1 + 0 4 c.4G>A c.(4-6)Gaa>Aaa p.E2K OR2L13_uc001ids.3_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA. 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATGCCCCATGGAAAATTACAA 0.408000 123 52 0 0 0.00361006 0 0 RNPEP 6051 broad.mit.edu 37 1 201972423 201972423 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:201972423C>T uc001gxd.3 + 8 1514 c.1485C>T c.(1483-1485)ctC>ctT p.L495L RNPEP_uc001gxe.3_Silent_p.L196L NM_020216 NP_064601 Q9H4A4 AMPB_HUMAN Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA. 495 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) TCCCTGATCTCTCCCCTGGGG 0.567000 25 10 0 0 0.000673444 0 0 CYSLTR1 10800 broad.mit.edu 37 X 77529010 77529010 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:77529010G>A uc022bzh.1 - 0 234 c.234C>T c.(232-234)ctC>ctT p.L78L CYSLTR1_uc004edb.3_Silent_p.L78L|CYSLTR1_uc010nma.3_Silent_p.L78L|CYSLTR1_uc010nmb.3_Silent_p.L78L NM_006639 NP_006630 Q9Y271 CLTR1_HUMAN Homo sapiens cysteinyl leukotriene receptor 1 (CYSLTR1), mRNA. 78 elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) AGACCACACGGAGAGGCAGTG 0.423000 9 7 0 0 0.000274275 0 0 GPRC5A 9052 broad.mit.edu 37 12 13061655 13061655 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:13061655A>G uc001rba.3 + 1 1122 c.472A>G c.(472-474)Aat>Gat p.N158D NM_003979 NP_003970 Q8NFJ5 RAI3_HUMAN Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA. 158 Golgi apparatus|cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) CCTGACCATGAATAGGACCAA 0.517000 145 57 0 0 0.00361006 0 0 NUAK2 81788 broad.mit.edu 37 1 205277745 205277745 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:205277745G>A uc001hce.3 - 2 595 c.468C>T c.(466-468)ttC>ttT p.F156F NUAK2_uc009xbj.1_Silent_p.F28F NM_030952 NP_112214 Q9H093 NUAK2_HUMAN Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA. 156 Protein kinase. actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) CGATCTGCCGGAAGAAATGCC 0.572000 30 11 0 0 0.000673444 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841861 8841861 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:8841861C>T uc010xkg.2 + 0 471 c.471C>T c.(469-471)tcC>tcT p.S157S NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA. 157 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 TCAACGCCTCCATCCAGACCT 0.557000 75 33 0 0 0.000953801 0 0 KLK11 11012 broad.mit.edu 37 19 51527411 51527411 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:51527411G>A uc002pvd.1 - 3 561 c.449C>T c.(448-450)tCg>tTg p.S150L KLK11_uc002pvc.4_Missense_Mutation_p.S118L|KLK11_uc002pve.1_Missense_Mutation_p.S7L|KLK11_uc002pvb.2_Missense_Mutation_p.S143L|KLK11_uc002pvf.1_Missense_Mutation_p.S118L|KLK11_uc010eom.3_3'UTR NM_144947 NP_006844 Q9UBX7 KLK11_HUMAN Homo sapiens kallikrein-related peptidase 11 (KLK11), transcript variant 2, mRNA. 150 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) GGAGACTGGCGATGCCATCTT 0.622000 20 5 0 0 0.00116845 0 0 PPL 5493 broad.mit.edu 37 16 4945319 4945319 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:4945319C>T uc002cyd.1 - 10 1275 c.1185G>A c.(1183-1185)cgG>cgA p.R395R NM_002705 NP_002696 O60437 PEPL_HUMAN Homo sapiens periplakin (PPL), mRNA. 395 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 GCGGAGTCTCCCGGCGGTACT 0.607000 25 12 0 0 0.00316338 0 0 SORCS3 22986 broad.mit.edu 37 10 106970983 106970983 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:106970983G>A uc001kyi.1 + 16 2577 c.2350G>A c.(2350-2352)Ggt>Agt p.G784S SORCS3_uc010qqz.1_Non-coding_Transcript NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 784 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) CTGCAGCCTTGGTCAAAGCTA 0.473000 21 6 0 0 0.00198382 0 0 DSP 1832 broad.mit.edu 37 6 7575559 7575559 + Missense_Mutation SNP C T T rs141834182 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:7575559C>T uc003mxp.1 + 17 2747 c.2468C>T c.(2467-2469)tCg>tTg p.S823L DSP_uc003mxq.1_Missense_Mutation_p.S823L|DSP_uc021yle.1_Missense_Mutation_p.S823L NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 823 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TTGAAGAAGTCGTTGTTGGCC 0.393000 119 42 0 0 0.00285205 0 0 MICAL1 64780 broad.mit.edu 37 6 109767004 109767004 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:109767004T>A uc011eaq.2 - 19 2991 c.2700A>T c.(2698-2700)gaA>gaT p.E900D MICAL1_uc003ptj.3_Missense_Mutation_p.E881D|MICAL1_uc003ptk.3_Missense_Mutation_p.E881D|MICAL1_uc010kdr.3_Missense_Mutation_p.E795D NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA. 881 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) AAGGCACATCTTCTTCTTCCT 0.537000 15 10 0 0 0.00244969 0 0 GNA11 2767 broad.mit.edu 37 19 3118967 3118967 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:3118967C>T uc002lxd.3 + 4 893 c.651C>T c.(649-651)atC>atT p.I217I DKFZp434J194_uc010xhe.2_5'Flank NM_002067 NP_002058 P29992 GNA11_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA. 217 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) GGAAGTGGATCCACTGCTTTG 0.617000 Mis uveal melanoma 50 17 0 0 0.00152264 0 0 RP1L1 94137 broad.mit.edu 37 8 10480452 10480452 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:10480452A>G uc003wtc.3 - 1 489 c.260T>C c.(259-261)cTg>cCg p.L87P NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 87 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GAGGCTATGCAGGCCCCGGGG 0.652000 19 8 0 0 0.000442599 0 0 CCDC129 223075 broad.mit.edu 37 7 31691654 31691654 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:31691654G>A uc011kae.2 + 12 2903 c.2891G>A c.(2890-2892)gGg>gAg p.G964E CCDC129_uc011kad.1_Missense_Mutation_p.G948E|CCDC129_uc003tcj.1_Missense_Mutation_p.G938E|CCDC129_uc003tci.1_Missense_Mutation_p.G789E|CCDC129_uc003tck.1_Missense_Mutation_p.G846E NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA. 938 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 ATCAGAGAAGGGATTTTACTG 0.493000 7 5 0 0 0.000602214 0 0 KCNC3 3748 broad.mit.edu 37 19 50827028 50827028 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:50827028G>A uc002pru.1 - 1 1477 c.1182C>T c.(1180-1182)ctC>ctT p.L394L KCNC3_uc002prt.1_Silent_p.L30L NM_004977 NP_004968 Q14003 KCNC3_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA. 394 cell death voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1) 13 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) GGCCCACCTCGAGATAGAAGG 0.587000 27 17 0 0 0.00074312 0 0 GPR98 84059 broad.mit.edu 37 5 89930994 89930994 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:89930994G>A uc003kju.3 + 9 1999 c.1903G>A c.(1903-1905)Gaa>Aaa p.E635K GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 635 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding 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) TAGATTTGGGGAAATCTGCAA 0.348000 63 23 0 0 0.00188189 0 0 GALR1 2587 broad.mit.edu 37 18 74962745 74962745 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:74962745G>A uc002lms.4 + 0 738 c.241G>A c.(241-243)Gac>Aac p.D81N NM_001480 NP_001471 P47211 GALR1_HUMAN Homo sapiens galanin receptor 1 (GALR1), mRNA. 81 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) GAGCATCGCCGACCTGGCCTA 0.627000 48 27 0 0 0.00106085 0 0 HOXA2 3199 broad.mit.edu 37 7 27141067 27141067 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:27141067C>T uc003syh.3 - 1 684 c.409G>A c.(409-411)Gat>Aat p.D137N HOXA2_uc022aaq.1_3'UTR NM_006735 NP_006726 O43364 HXA2_HUMAN Homo sapiens homeobox A2 (HOXA2), mRNA. 137 nucleus sequence-specific DNA binding transcription factor activity breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 CCGCTGCCATCGGCGATTTCC 0.527000 19 10 0 0 0.00136819 0 0 AADACL2 344752 broad.mit.edu 37 3 151475216 151475216 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:151475216G>A uc003ezc.3 + 4 1160 c.1040G>A c.(1039-1041)gGa>gAa p.G347E MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.G134E NM_207365 NP_997248 Q6P093 ADCL2_HUMAN Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA. 347 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) AGAGATGATGGACTTATGTAT 0.378000 61 26 0 0 0.00106085 0 0 FAM75D3 389762 broad.mit.edu 37 9 84562512 84562512 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:84562512C>T uc010mpt.2 + 3 2430 c.2344C>T c.(2344-2346)Ctc>Ttc p.L782F AK097447_uc004ami.1_Intron|DQ577940_uc004amm.1_5'Flank NM_207416 NP_997299 P0C874 YI039_HUMAN Homo sapiens family with sequence similarity 75, member D3 (FAM75D3), mRNA. 782 integral to membrane AAAAAACCATCTCTTGCATGA 0.483000 22 16 0 0 0.000566183 0 0 RNF144A 9781 broad.mit.edu 37 2 7154674 7154674 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:7154674C>T uc002qys.3 + 3 667 c.225C>T c.(223-225)caC>caT p.H75H NM_014746 NP_055561 P50876 R144A_HUMAN Homo sapiens ring finger protein 144A (RNF144A), mRNA. 75 Golgi apparatus|integral to membrane ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1) 25 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) AACAGGGCCACCTACAGGAGA 0.473000 44 21 0 0 0.00229938 0 0 COL6A3 1293 broad.mit.edu 37 2 238280867 238280867 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:238280867C>T uc002vwl.2 - 8 4078 c.3793G>A c.(3793-3795)Ggc>Agc p.G1265S COL6A3_uc002vwo.2_Missense_Mutation_p.G1059S|COL6A3_uc010znj.1_Missense_Mutation_p.G658S|COL6A3_uc002vwq.3_Missense_Mutation_p.G1059S|COL6A3_uc002vwr.3_Missense_Mutation_p.G858S NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 1265 Nonhelical region.|VWFA 7. 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) GTGTCAAAGCCCACGTCCAGG 0.582000 16 8 0 0 0.00307968 0 0 COL6A3 1293 broad.mit.edu 37 2 238303736 238303736 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:238303736G>A uc002vwl.2 - 2 488 c.203C>T c.(202-204)tCc>tTc p.S68F COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Intron|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.S68F NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 68 Nonhelical region.|VWFA 1. 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) CACAGCTAAGGATTTTACAAC 0.403000 29 15 0 0 0.00316338 0 0 TNXB 7148 broad.mit.edu 37 6 32036257 32036257 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32036257C>T uc003nzl.2 - 16 6332 c.6130G>A c.(6130-6132)Ggc>Agc p.G2044S NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 2126 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGCTCCAGGCCCGAGATGGTG 0.602000 250 91 0 0 0.00361006 0 0 NOS1 4842 broad.mit.edu 37 12 117691472 117691472 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:117691472A>T uc001twn.2 - 17 3432 c.2721T>A c.(2719-2721)ttT>ttA p.F907L NOS1_uc021ren.1_Missense_Mutation_p.F537L|NOS1_uc021reo.1_Missense_Mutation_p.F537L|NOS1_uc001twm.2_Missense_Mutation_p.F873L NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 873 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CAGCACTCTCAAAGTTGTCTC 0.552000 73 26 0 0 0.00127121 0 0 ARHGAP6 395 broad.mit.edu 37 X 11187673 11187673 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:11187673G>A uc004cup.1 - 8 2634 c.1761C>T c.(1759-1761)atC>atT p.I587I ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Silent_p.I587I|ARHGAP6_uc004cum.1_Silent_p.I384I|ARHGAP6_uc004cun.1_Silent_p.I407I|ARHGAP6_uc010neb.1_Silent_p.I409I|ARHGAP6_uc011mif.1_Silent_p.I384I NM_013427 NP_038286 O43182 RHG06_HUMAN Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA. 587 Rho-GAP. Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly actin filament|cytosol Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding p.I587I(4) cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CAACAGCGATGATGGCCGTGC 0.493000 21 25 0 0 0.00332997 0 0 UCK1 83549 broad.mit.edu 37 9 134404515 134404515 + Splice_Site SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:134404515C>T uc004cay.3 - 4 609 c.508_splice c.e4+1 p.V170_splice UCK1_uc010mzk.3_Splice_Site_p.V161_splice|UCK1_uc004cba.3_Splice_Site_p.D170_splice|UCK1_uc004caz.3_Splice_Site NM_031432 NP_113620 Q9HA47 UCK1_HUMAN Homo sapiens uridine-cytidine kinase 1 (UCK1), transcript variant 1, mRNA. 170 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219) GCCGCCTTACCTCTTCGAGAC 0.657000 19 18 0 0 0.00188189 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798846 55798846 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:55798846C>T uc010riw.2 + 0 952 c.952C>T c.(952-954)Cgt>Tgt p.R318C NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA. 318 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) GTATTTAAATCGTTTAAGAAT 0.264000 40 27 0 0 0.000878237 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53639522 53639522 + Missense_Mutation SNP G A A rs151332923 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:53639522G>A uc002ehp.3 - 25 3770 c.3706C>T c.(3706-3708)Cgc>Tgc p.R1236C RPGRIP1L_uc002eho.4_Missense_Mutation_p.R1156C|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.R1190C|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.R1202C|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R1190C NM_015272 NP_056087 Q68CZ1 FTM_HUMAN Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA. 1236 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding p.R1236H(1) endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) ACGGTGAAGCGAAGGCTGGTA 0.517000 146 15 0 0 0.00316338 0 0 KLHL1 57626 broad.mit.edu 37 13 70293634 70293634 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:70293634T>C uc001vip.3 - 8 2676 c.1882A>G c.(1882-1884)Aac>Gac p.N628D KLHL1_uc010thm.2_Missense_Mutation_p.N567D NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA. 628 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.W627S(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GCACACATGTTCCACTTATTT 0.428000 49 23 0 0 0.00278032 0 0 C18orf26 284254 broad.mit.edu 37 18 52262317 52262317 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:52262317G>A uc002lfq.1 + 1 329 c.283G>A c.(283-285)Gaa>Aaa p.E95K NM_173629 NP_775900 Q8N1N2 CR026_HUMAN Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA. 95 integral to membrane endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 11 Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178) TCTACAGTCAGAATCCTGTAA 0.433000 84 34 0 0 0.00111076 0 0 ZNF165 7718 broad.mit.edu 37 6 28054062 28054062 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:28054062C>T uc021yro.1 + 2 1351 c.524C>T c.(523-525)tCa>tTa p.S175L ZNF165_uc003nkh.3_Missense_Mutation_p.S175L|ZNF165_uc003nki.4_Missense_Mutation_p.S175L NM_003447 NP_003438 P49910 ZN165_HUMAN Homo sapiens zinc finger protein 165 (ZNF165), mRNA. 175 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 TTTGATTCATCAGAACCCCAG 0.463000 55 17 0 0 0.000958276 0 0 PDE3A 5139 broad.mit.edu 37 12 20799717 20799717 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:20799717G>A uc001reh.2 + 11 2438 c.2398G>A c.(2398-2400)Gga>Aga p.G800R PDE3A_uc021qwa.1_Missense_Mutation_p.G478R NM_000921 NP_000912 Q14432 PDE3A_HUMAN Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA. 800 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TGGACATATGGGATATGTATT 0.378000 83 25 0 0 0.00106085 0 0 AHNAK 79026 broad.mit.edu 37 11 62299704 62299704 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:62299704G>A uc001ntl.3 - 4 2485 c.2185C>T c.(2185-2187)Cca>Tca p.P729S AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 729 nervous system development nucleus protein binding p.G728C(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCCACTTTTGGGCCTTTGAGT 0.468000 106 89 0 0 0.00361006 0 0 FNDC1 84624 broad.mit.edu 37 6 159692442 159692442 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:159692442G>A uc010kjv.3 + 22 5853 c.5653G>A c.(5653-5655)Gag>Aag p.E1885K NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA. 1885 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) GGGCTGGTACGAGTGTGGGGT 0.577000 11 5 0 0 0.000602214 0 0 ZNF221 7638 broad.mit.edu 37 19 44471131 44471131 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:44471131C>T uc002oxx.2 + 5 1805 c.1477C>T c.(1477-1479)Ctt>Ttt p.L493F ZNF221_uc010ejb.1_Missense_Mutation_p.L493F|ZNF221_uc010xws.1_Missense_Mutation_p.L493F NM_013359 NP_037491 Q9UK13 ZN221_HUMAN Homo sapiens zinc finger protein 221 (ZNF221), mRNA. 493 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) GGCCTCCTGTCTTTTGAAACA 0.453000 46 20 0 0 0.00229938 0 0 ZNF655 79027 broad.mit.edu 37 7 99169387 99169387 + Silent SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:99169387T>A uc010lga.3 + 2 606 c.213T>A c.(211-213)acT>acA p.T71T ZNF655_uc003urh.3_Intron|ZNF655_uc010lgc.3_Silent_p.T71T|ZNF655_uc003urj.3_Intron|ZNF655_uc003urk.3_5'UTR|ZNF655_uc010lgd.3_5'UTR NM_001083956 NP_001078837 Q8N720 ZN655_HUMAN Homo sapiens zinc finger protein 655 (ZNF655), transcript variant 7, mRNA. 45 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 16 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) AAACTAAGACTAGAGAAGTCT 0.428000 9 4 0 0 0.00116845 0 0 DTX3L 151636 broad.mit.edu 37 3 122287933 122287933 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:122287933C>T uc003efk.3 + 2 1086 c.997C>T c.(997-999)Ctt>Ttt p.L333F DTX3L_uc010hrj.3_Intron|DTX3L_uc021xdb.1_Missense_Mutation_p.L169F NM_138287 NP_612144 Q8TDB6 DTX3L_HUMAN Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA. 333 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) TACAAAGCTCCTTATAAAGGA 0.398000 126 44 0 0 0.00321405 0 0 MYOCD 93649 broad.mit.edu 37 17 12666750 12666750 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:12666750C>T uc002gno.2 + 13 3049 c.2750C>T c.(2749-2751)tCa>tTa p.S917L MYOCD_uc002gnn.2_Missense_Mutation_p.S869L|MYOCD_uc002gnq.2_Missense_Mutation_p.S593L NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 869 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 RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|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) ACACAGTTTTCACCCTCTTCT 0.522000 23 19 0 0 0.00229938 0 0 NLRP11 204801 broad.mit.edu 37 19 56321612 56321612 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:56321612G>A uc010ygf.2 - 4 1075 c.364C>T c.(364-366)Cgt>Tgt p.R122C NLRP11_uc002qlz.3_Missense_Mutation_p.R23C|NLRP11_uc002qmb.3_Missense_Mutation_p.R23C|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 122 ATP binding p.R122C(2)|p.R122H(1) 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) GAAACGTCACGAAAAAATTTA 0.383000 33 11 0 0 0.000978159 0 0 ATAD5 79915 broad.mit.edu 37 17 29219749 29219749 + Silent SNP C T T rs144014973 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:29219749C>T uc002hfs.1 + 19 4726 c.4383C>T c.(4381-4383)acC>acT p.T1461T NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA. 1461 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GTGCTGAGACCTTGTTTGGCC 0.333000 143 108 0 0 0.00361006 0 0 ZNF492 57615 broad.mit.edu 37 19 22846700 22846700 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:22846700G>A uc002nqw.3 + 3 473 c.229G>A c.(229-231)Gaa>Aaa p.E77K NM_020855 NP_065906 Q9P255 ZN492_HUMAN Homo sapiens zinc finger protein 492 (ZNF492), mRNA. 77 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E77K(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) ATGTGGATGTGAAAATTTACA 0.348000 27 11 0 0 0.000978159 0 0 SHISA4 149345 broad.mit.edu 37 1 201860616 201860616 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:201860616C>T uc001gxa.3 + 3 785 c.467C>T c.(466-468)cCt>cTt p.P156L SHISA4_uc021phk.1_Non-coding_Transcript NM_198149 NP_937792 Q96DD7 SHSA4_HUMAN Homo sapiens shisa homolog 4 (Xenopus laevis) (SHISA4), transcript variant 1, mRNA. 156 Pro-rich. integral to membrane kidney(1)|lung(4) 5 CCCCCACAGCCTGGCTTCATA 0.587000 52 21 0 0 0.00229938 0 0 RELN 5649 broad.mit.edu 37 7 103301971 103301971 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:103301971C>T uc022ajr.1 - 11 1453 c.1293G>A c.(1291-1293)tgG>tgA p.W431* RELN_uc022ajq.1_Nonsense_Mutation_p.W431*|RELN_uc010liz.3_Nonsense_Mutation_p.W431* NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 431 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCAAGACATCCCATCTAAAAA 0.358000 23 10 0 0 0.000673444 0 0 KCNA1 3736 broad.mit.edu 37 12 5021586 5021586 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:5021586G>A uc001qnh.3 + 1 2147 c.1042G>A c.(1042-1044)Gag>Aag p.E348K KCNA1_uc021qts.1_Missense_Mutation_p.E348K NM_000217 NP_000208 Q09470 KCNA1_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA. 348 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GTACTTTGCCGAGGCGGAAGA 0.537000 71 36 0 0 0.00128727 0 0 CYP4F12 66002 broad.mit.edu 37 19 15795991 15795991 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:15795991C>T uc002nbl.3 + 8 1218 c.1099C>T c.(1099-1101)Cct>Tct p.P367S NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GGACCGCGATCCTAAAGAGAT 0.562000 67 23 0 0 0.00209593 0 0 TNXB 7148 broad.mit.edu 37 6 32041670 32041670 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32041670C>T uc003nzl.2 - 11 4637 c.4435G>A c.(4435-4437)Gag>Aag p.E1479K NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1566 Fibronectin type-III 7. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACTGTCAGCTCTCCTAGGCGT 0.582000 316 101 0 0 0.00361006 0 0 GALNT14 79623 broad.mit.edu 37 2 31147628 31147628 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:31147628C>T uc002rns.3 - 12 1868 c.1228G>A c.(1228-1230)Gag>Aag p.E410K GALNT14_uc002rnq.3_Missense_Mutation_p.E385K|GALNT14_uc010ymr.2_Missense_Mutation_p.E370K|GALNT14_uc002rnr.3_Missense_Mutation_p.E405K|GALNT14_uc010ezo.2_Missense_Mutation_p.E372K NM_001253826 NP_001240755 Q96FL9 GLT14_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA. 405 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) TAGATATTCTCCAGGTACCAC 0.532000 38 11 0 0 0.00316338 0 0 USP28 57646 broad.mit.edu 37 11 113672276 113672276 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:113672276G>A uc001poh.3 - 23 3020 c.2987C>T c.(2986-2988)tCc>tTc p.S996F USP28_uc001pog.3_Missense_Mutation_p.S672F|USP28_uc010rwy.2_Missense_Mutation_p.S839F|USP28_uc001poi.3_Missense_Mutation_p.S319F NM_020886 NP_065937 Q96RU2 UBP28_HUMAN Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA. 996 DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) ATCATCCTTGGAAATGTCATT 0.388000 23 18 0 0 0.00152264 0 0 NLRP1 22861 broad.mit.edu 37 17 5462527 5462527 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:5462527C>T uc002gci.3 - 3 2044 c.1489G>A c.(1489-1491)Gaa>Aaa p.E497K NLRP1_uc002gcg.1_Missense_Mutation_p.E497K|NLRP1_uc002gch.4_Missense_Mutation_p.E497K|NLRP1_uc002gck.3_Missense_Mutation_p.E497K|NLRP1_uc002gcj.3_Missense_Mutation_p.E497K|NLRP1_uc002gcl.3_Missense_Mutation_p.E497K|NLRP1_uc010clh.3_Missense_Mutation_p.E497K NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 497 NACHT. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GCTTGCCTTTCATCTGTGAAA 0.507000 35 31 0 0 0.00375469 0 0 FLNB 2317 broad.mit.edu 37 3 58141800 58141800 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:58141800C>T uc003djj.2 + 40 7051 c.6886C>T c.(6886-6888)Cag>Tag p.Q2296* FLNB_uc010hne.2_Nonsense_Mutation_p.Q2327*|FLNB_uc003djk.2_Nonsense_Mutation_p.Q2285*|FLNB_uc010hnf.2_Nonsense_Mutation_p.Q2272*|FLNB_uc003djl.2_Nonsense_Mutation_p.Q2116*|FLNB_uc003djm.2_Nonsense_Mutation_p.Q2103* NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 2296 Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TATGAGCCTTCAGGTGAGATG 0.602000 20 8 0 0 0.00307968 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090803 91090803 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:91090803C>T uc004efk.2 + 0 1145 c.300C>T c.(298-300)atC>atT p.I100I PCDH11X_uc004efl.2_Silent_p.I100I|PCDH11X_uc010nmv.2_Silent_p.I100I|PCDH11X_uc004efm.2_Silent_p.I100I|PCDH11X_uc004efn.2_Silent_p.I100I|PCDH11X_uc004efo.2_Silent_p.I100I|PCDH11X_uc004efh.2_Silent_p.I100I|PCDH11X_uc004efj.1_Silent_p.I100I NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA. 100 Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GTGCTGGTATCCCAAGGGATG 0.418000 36 63 0 0 0.00361006 0 0 BC024173 0 broad.mit.edu 37 21 15399841 15399842 + RNA DNP CC TT TT rs13047459 by1000genomes TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:15399841_15399842CC>TT uc002yjk.3 + 0 c.100_101CC>TT BC024173_uc002yjl.3_Non-coding_Transcript Homo sapiens, clone IMAGE:4102980, mRNA. TTCTGCCACTCCCTCCGTCGCT 0.579000 21 9 0 0 6.4e-05 0 0 DRGX 644168 broad.mit.edu 37 10 50594600 50594600 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:50594600G>A uc010qgq.2 - 4 465 c.465C>T c.(463-465)ttC>ttT p.F155F DRGX_uc021pqd.1_Silent_p.F150F NM_001080520 NP_001073989 C9JW76 C9JW76_HUMAN Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA. 155 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 AGCAGGAGGGGAAGAAAGGCC 0.622000 3 6 0 0 0.00198382 0 0 KITLG 4254 broad.mit.edu 37 12 88939543 88939543 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:88939543C>T uc001tav.3 - 1 310 c.115G>A c.(115-117)Gac>Aac p.D39N KITLG_uc001taw.3_Missense_Mutation_p.D39N NM_000899 NP_000890 P21583 SCF_HUMAN Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA. 39 cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1) 9 TTAGTGACGTCTTTTACATTA 0.378000 Testicular Cancer, Familial Clustering of 31 10 0 0 0.00136819 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187693211 187693211 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:187693211C>T uc002upu.1 - 8 1442 c.1402G>A c.(1402-1404)Gat>Aat p.D468N NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA. 468 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) CATAGATTATCTATTGTTGTA 0.289000 52 19 0 0 0.00229938 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110030320 110030320 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:110030320C>T uc001dxr.3 + 4 609 c.594C>T c.(592-594)atC>atT p.I198I ATXN7L2_uc001dxs.3_5'Flank NM_153340 NP_699171 Q5T6C5 AT7L2_HUMAN Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA. 198 p.I198I(2) 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) GAGAGAACATCGAGATCATCC 0.602000 204 221 0 0 0.00361006 0 0 CSF2RB 1439 broad.mit.edu 37 22 37326802 37326802 + Silent SNP G A A rs138918081 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:37326802G>A uc003aqa.4 + 7 1159 c.942G>A c.(940-942)gcG>gcA p.A314A CSF2RB_uc003aqc.4_Silent_p.A320A NM_000395 NP_000386 P32927 IL3RB_HUMAN Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA. 314 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) CCGACCCCGCGACCCACGGCC 0.612000 32 19 0 0 0.00229938 0 0 KIF26B 55083 broad.mit.edu 37 1 245848730 245848730 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:245848730G>A uc001ibf.1 + 11 2885 c.2445G>A c.(2443-2445)ggG>ggA p.G815G KIF26B_uc001ibg.1_Silent_p.G433G|KIF26B_uc001ibh.1_Silent_p.G57G NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN Homo sapiens kinesin family member 26B (KIF26B), mRNA. 815 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CGTCCGGCGGGGAGAGCTCCT 0.647000 8 4 0 0 0.00024832 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823739 38823739 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:38823739C>T uc003avs.1 - 1 496 c.399G>A c.(397-399)acG>acA p.T133T KCNJ4_uc003avt.1_Silent_p.T133T|KCNJ4_uc021wpp.1_Silent_p.T133T NM_004981 NP_690607 P48050 IRK4_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA. 133 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex PDZ domain binding|inward rectifier potassium channel activity endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) AGCCGATGGTCGTCTGCGTCT 0.657000 60 20 0 0 0.00395357 0 0 BNC2 54796 broad.mit.edu 37 9 16437449 16437449 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:16437449A>T uc003zml.3 - 5 883 c.743T>A c.(742-744)tTt>tAt p.F248Y BNC2_uc011lmw.2_Missense_Mutation_p.F153Y|BNC2_uc003zmm.3_Missense_Mutation_p.F206Y|BNC2_uc003zmq.1_Missense_Mutation_p.F262Y|BNC2_uc003zmr.1_Missense_Mutation_p.F285Y|BNC2_uc003zmp.1_Missense_Mutation_p.F276Y|BNC2_uc010mij.1_Missense_Mutation_p.F170Y|BNC2_uc011lmv.2_Missense_Mutation_p.F74Y|BNC2_uc003zmo.1_Missense_Mutation_p.F170Y|BNC2_uc003zmj.3_Missense_Mutation_p.F13Y|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.F13Y|BNC2_uc003zmn.1_Missense_Mutation_p.F13Y NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN Homo sapiens basonuclin 2 (BNC2), mRNA. 248 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) AAACCGCAGAAACTGCTGAAG 0.502000 27 18 0 0 0.00074312 0 0 CSMD3 114788 broad.mit.edu 37 8 113402921 113402921 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:113402921A>T uc003ynu.3 - 35 6065 c.5906T>A c.(5905-5907)aTc>aAc p.I1969N CSMD3_uc003yns.3_Missense_Mutation_p.I1171N|CSMD3_uc003ynt.3_Missense_Mutation_p.I1929N|CSMD3_uc011lhx.2_Missense_Mutation_p.I1865N NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1969 CUB 11. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGGCACTGTGATCTTCCACAC 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 36 19 0 0 0.00278032 0 0 NME8 51314 broad.mit.edu 37 7 37907434 37907434 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:37907434G>A uc003tfn.3 + 10 1124 c.752G>A c.(751-753)cGa>cAa p.R251Q NM_016616 NP_057700 Q8N427 TXND3_HUMAN Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA. 251 NDK 1. CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity CCTAACGAACGATCTGAGGAT 0.443000 27 8 0 0 0.000274275 0 0 CKAP2 26586 broad.mit.edu 37 13 53049131 53049131 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:53049131C>T uc001vgv.2 + 8 2104 c.1907C>T c.(1906-1908)tCt>tTt p.S636F CKAP2_uc001vgu.2_Missense_Mutation_p.S635F|CKAP2_uc010tha.1_Missense_Mutation_p.S587F NM_001098525 NP_001091995 Q8WWK9 CKAP2_HUMAN Homo sapiens cytoskeleton associated protein 2 (CKAP2), transcript variant 2, mRNA. 636 apoptosis|cell cycle centrosome|microtubule|spindle pole breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1) 20 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) GAGAAAACTTCTAAATTGCCA 0.393000 42 24 0 0 0.000720815 0 0 SEC16B 89866 broad.mit.edu 37 1 177911163 177911164 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:177911163_177911164GG>AA uc001glj.1 - 20 2762_2763 c.1896_1897CC>TT c.(1894-1899)ctcctt>ctTTtt p.L633F SEC16B_uc001glk.1_Missense_Mutation_p.L309F|SEC16B_uc009wwy.1_Missense_Mutation_p.L187F|SEC16B_uc001glh.1_Missense_Mutation_p.L291F|SEC16B_uc001gli.1_Missense_Mutation_p.L632F|SEC16B_uc009wwz.1_Missense_Mutation_p.L291F NM_033127 NP_149118 Q96JE7 SC16B_HUMAN Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA. 632 protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 GAAGCATAAAGGAGCTTATACA 0.495000 14 5 0 0 6.4e-05 0 0 DDX17 10521 broad.mit.edu 37 22 38881966 38881966 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:38881966G>A uc003avy.4 - 12 2273 c.2170C>T c.(2170-2172)Ccc>Tcc p.P724S DDX17_uc003avw.4_Missense_Mutation_p.P176S|DDX17_uc003avx.4_Missense_Mutation_p.P722S NM_001098504 NP_001091974 Q92841 DDX17_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA. 643 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) ggaggagggggaggaggagga 0.478000 33 23 0 0 0.00332997 0 0 ALS2 57679 broad.mit.edu 37 2 202622460 202622460 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:202622460G>A uc002uyo.3 - 4 1492 c.1136C>T c.(1135-1137)cCt>cTt p.P379L ALS2_uc002uyp.4_Missense_Mutation_p.P379L|ALS2_uc002uyq.3_Missense_Mutation_p.P379L NM_020919 NP_065970 Q96Q42 ALS2_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA. 379 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 GTGGAGATTAGGAATTGCTTC 0.393000 36 11 0 0 0.00136819 0 0 LPAR1 1902 broad.mit.edu 37 9 113703937 113703937 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:113703937C>T uc011lwo.2 - 1 562 c.560G>A c.(559-561)tGg>tAg p.W187* LPAR1_uc004bfa.3_Nonsense_Mutation_p.W186*|LPAR1_uc011lwm.2_Nonsense_Mutation_p.W187*|LPAR1_uc004bfc.3_Nonsense_Mutation_p.W186*|LPAR1_uc011lwn.2_Nonsense_Mutation_p.W168*|LPAR1_uc004bfb.3_Nonsense_Mutation_p.W186*|LPAR1_uc010mub.3_Nonsense_Mutation_p.W186* NM_057159 NP_476500 Q92633 LPAR1_HUMAN Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA. 186 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 GATACAGTTCCAGCCCACACT 0.493000 58 63 0 0 0.00361006 0 0 GLRB 2743 broad.mit.edu 37 4 158057999 158057999 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:158057999C>T uc003ipj.2 + 5 773 c.571C>T c.(571-573)Ccc>Tcc p.P191S GLRB_uc021xtp.1_Missense_Mutation_p.P191S|GLRB_uc021xtq.1_Missense_Mutation_p.P191S NM_000824 NP_001159532 P48167 GLRB_HUMAN Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA. 191 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) GACATTGTTTCCCATGGATAC 0.348000 38 21 0 0 0.00229938 0 0 KIAA1549 57670 broad.mit.edu 37 7 138522763 138522763 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:138522763G>A uc011kql.2 - 19 5790 c.5741C>T c.(5740-5742)tCc>tTc p.S1914F KIAA1549_uc011kqi.2_Missense_Mutation_p.S682F|KIAA1549_uc011kqk.2_Missense_Mutation_p.S698F|KIAA1549_uc011kqj.2_Missense_Mutation_p.S1898F NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 1914 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GTCTTCCGTGGAGCTGGTGGG 0.647000 O BRAF pilocytic astrocytoma 3 7 0 0 0.00307968 0 0 ZNF703 80139 broad.mit.edu 37 8 37556185 37556185 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:37556185A>G uc003xjy.1 + 1 1963 c.1766A>G c.(1765-1767)tAc>tGc p.Y589C NM_025069 NP_079345 Q9H7S9 ZN703_HUMAN Homo sapiens zinc finger protein 703 (ZNF703), mRNA. 589 adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding FGFR1/ZNF703(2) breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09) GCGCTGGGATACCAGTAACTA 0.662000 21 4 0 0 0.00024832 0 0 MORC1 27136 broad.mit.edu 37 3 108703568 108703568 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:108703568C>T uc003dxl.3 - 22 2406 c.2319G>A c.(2317-2319)tgG>tgA p.W773* MORC1_uc011bhn.2_Nonsense_Mutation_p.W752* NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 773 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 CTCACCTTTTCCAGCTAGGTA 0.333000 27 7 0 0 0.00198382 0 0 ZNF710 374655 broad.mit.edu 37 15 90610515 90610516 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:90610515_90610516CC>TT uc002bov.2 + 1 269_270 c.146_147CC>TT c.(145-147)ccc>cTT p.P49L NM_198526 NP_940928 Q8N1W2 ZN710_HUMAN Homo sapiens zinc finger protein 710 (ZNF710), mRNA. 49 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) GACCTGGGGCCCGAGCTTTCAG 0.673000 5 16 0 0 6.4e-05 0 0 DNAH17 8632 broad.mit.edu 37 17 76423027 76423027 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:76423027C>T uc010dhp.2 - 77 12876 c.12751G>A c.(12751-12753)Gag>Aag p.E4251K DNAH17_uc002jvq.3_Missense_Mutation_p.E536K|DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. 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) AGGTTCAGCTCCTTGAGCGAA 0.572000 9 6 0 0 0.00307968 0 0 SIM1 6492 broad.mit.edu 37 6 100838545 100838545 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:100838545G>A uc003pqj.4 - 10 2460 c.1993C>T c.(1993-1995)Cgc>Tgc p.R665C SIM1_uc021zdg.1_Missense_Mutation_p.R665C|SIM1_uc010kcu.3_Missense_Mutation_p.R665C NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 665 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.R665R(1) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TTTGAAATGCGATCCGAATTG 0.458000 92 37 0 0 0.00128727 0 0 DRG1 4733 broad.mit.edu 37 22 31829903 31829903 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:31829903G>A uc003aku.3 + 8 1181 c.1050G>A c.(1048-1050)gtG>gtA p.V350V AK074476_uc003akv.1_5'Flank NM_004147 NP_004138 Q9Y295 DRG1_HUMAN Homo sapiens developmentally regulated GTP binding protein 1 (DRG1), mRNA. 350 multicellular organismal development|transcription, DNA-dependent cytoplasm|intermediate filament cytoskeleton|nucleus GTP binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 11 CTCAGAAAGTGGGTAAAGACC 0.463000 60 23 0 0 0.000878237 0 0 MAD1L1 8379 broad.mit.edu 37 7 2108855 2108855 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:2108855G>A uc003slh.1 - 11 1458 c.1192C>T c.(1192-1194)Cag>Tag p.Q398* MAD1L1_uc003sle.1_Nonsense_Mutation_p.Q127*|MAD1L1_uc003slf.1_Nonsense_Mutation_p.Q398*|MAD1L1_uc003slg.1_Nonsense_Mutation_p.Q398*|MAD1L1_uc010ksh.1_Nonsense_Mutation_p.Q398*|MAD1L1_uc003sli.1_Nonsense_Mutation_p.Q306*|MAD1L1_uc010ksi.1_Nonsense_Mutation_p.Q351*|MAD1L1_uc010ksj.3_Nonsense_Mutation_p.Q398* NM_001013836 NP_003541 Q9Y6D9 MD1L1_HUMAN Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA. 398 Necessary for interaction with NEK2. 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) ACCCGTTTCTGGAGCCTCCGG 0.632000 44 24 0 0 0.00178596 0 0 AVPR1B 553 broad.mit.edu 37 1 206225064 206225064 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:206225064C>T uc001hds.2 + 0 782 c.624C>T c.(622-624)ttC>ttT p.F208F NM_000707 NP_000698 P47901 V1BR_HUMAN Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA. 208 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity p.F208F(2) breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) TGGCTATCTTCGTTCTGCCGG 0.612000 37 30 0 0 0.001512 0 0 LLGL1 3996 broad.mit.edu 37 17 18140908 18140908 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:18140908C>T uc002gsp.3 + 13 1786 c.1725C>T c.(1723-1725)agC>agT p.S575S NM_004140 NP_004131 Q15334 L2GL1_HUMAN Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA. 575 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) AGCGGCTGAGCCCACGCACGG 0.677000 8 9 0 0 0.000978159 0 0 KLF7 8609 broad.mit.edu 37 2 207953206 207953206 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:207953206G>A uc002vbz.1 - 2 1155 c.833C>T c.(832-834)cCc>cTc p.P278L KLF7_uc002vca.1_Missense_Mutation_p.P211S|KLF7_uc010zix.1_Missense_Mutation_p.P250L NM_003709 NP_003700 O75840 KLF7_HUMAN Homo sapiens Kruppel-like factor 7 (ubiquitous) (KLF7), mRNA. 278 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1) 11 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) GCATTTGAAGGGCTTTGCACC 0.537000 70 25 0 0 0.00395357 0 0 LOC283914 283914 broad.mit.edu 37 16 34624169 34624169 + RNA SNP G C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:34624169G>C uc002edw.3 + 8 c.2015G>C LOC283914_uc010vgc.1_Intron Homo sapiens uncharacterized LOC283914 (LOC283914), non-coding RNA. CTGCCAGGGTGAATGTGAAAG 0.453000 94 65 0 0 0.00361006 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958068 57958068 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:57958068C>T uc010rka.2 + 0 163 c.106C>T c.(106-108)Ctt>Ttt p.L36F NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA. 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) GAGTTTCTATCTTGCCACTAT 0.483000 16 16 0 0 0.000958276 0 0 UMODL1 89766 broad.mit.edu 37 21 43510455 43510455 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:43510455G>A uc002zag.1 + 5 838 c.838G>A c.(838-840)Gaa>Aaa p.E280K UMODL1_uc002zad.1_Missense_Mutation_p.E208K|UMODL1_uc002zae.1_Missense_Mutation_p.E208K|UMODL1_uc002zaf.1_Missense_Mutation_p.E280K|UMODL1_uc010gow.1_Missense_Mutation_p.E72K|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Intron NM_173568 NP_001186456 Q5DID0 UROL1_HUMAN Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA. 280 EGF-like 1; calcium-binding (Potential). cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 CTCTGGAAGGGAACTGTGCGC 0.562000 51 13 0 0 0.00400662 0 0 CLDN16 10686 broad.mit.edu 37 3 190122642 190122642 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:190122642G>A uc003fsi.3 + 2 767 c.519G>A c.(517-519)gtG>gtA p.V173V CLDN16_uc010hze.3_Intron NM_006580 NP_006571 Q9Y5I7 CLD16_HUMAN Homo sapiens claudin 16 (CLDN16), mRNA. 173 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) TTGACTGCGTGAAATTCCTCC 0.498000 39 29 0 0 0.00127121 0 0 CSMD3 114788 broad.mit.edu 37 8 114111130 114111130 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:114111130G>A uc003ynu.3 - 4 931 c.772C>T c.(772-774)Cct>Tct p.P258S CSMD3_uc003ynt.3_Missense_Mutation_p.P218S|CSMD3_uc011lhx.2_Missense_Mutation_p.P258S|CSMD3_uc010mcx.1_Missense_Mutation_p.P258S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 258 CUB 2. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TACTCATTAGGAAAACTAGGG 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 35 16 0 0 0.00074312 0 0 RPL13AP3 645683 broad.mit.edu 37 14 56233494 56233494 + RNA SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:56233494G>A uc010aos.3 + 0 c.532G>A Homo sapiens ribosomal protein L13a pseudogene 3 (RPL13AP3), non-coding RNA. CAAGACCCACGGACTCCTGGT 0.537000 11 5 0 0 0.000602214 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12954982 12954982 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:12954982G>A uc001auo.3 - 2 374 c.301C>T c.(301-303)Caa>Taa p.Q101* NM_001039361 NP_001034450 O60809 PRA10_HUMAN Homo sapiens PRAME family member 10 (PRAMEF10), mRNA. 101 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 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;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCCAGCACTTGAAGTTTCCAC 0.527000 37 47 0 0 0.00361006 0 0 POM121L12 285877 broad.mit.edu 37 7 53104076 53104076 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:53104076C>T uc003tpz.3 + 0 728 c.712C>T c.(712-714)Ccg>Tcg p.P238S NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 238 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GCCTCTGAAGCCGAGCCTCGG 0.657000 26 13 0 0 0.00185496 0 0 COL5A2 1290 broad.mit.edu 37 2 189931166 189931166 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:189931166G>A uc002uqk.3 - 22 1788 c.1513C>T c.(1513-1515)Ccc>Tcc p.P505S COL5A2_uc010frx.3_Intron NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 505 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TCACCTCTGGGACCTCTTTTG 0.483000 122 77 0 0 0.00361006 0 0 CNTRL 11064 broad.mit.edu 37 9 123886359 123886359 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:123886359G>A uc004bkx.1 + 10 1832 c.1801G>A c.(1801-1803)Gaa>Aaa p.E601K CNTRL_uc004bky.1_Missense_Mutation_p.E205K|CNTRL_uc004bkz.1_Missense_Mutation_p.E49K|CNTRL_uc004bla.1_Missense_Mutation_p.E49K NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN Homo sapiens centriolin (CNTRL), mRNA. 601 G2/M transition of mitotic cell cycle|cell division centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 ACAGCTTACTGAAGGTAAGAC 0.348000 71 31 0 0 0.0024448 0 0 KRT77 374454 broad.mit.edu 37 12 53096888 53096888 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:53096888C>T uc001saw.3 - 0 360 c.331G>A c.(331-333)Ggt>Agt p.G111S KRT77_uc009zmi.3_5'UTR NM_175078 NP_778253 Q7Z794 K2C1B_HUMAN Homo sapiens keratin 77 (KRT77), mRNA. 111 Head. keratin filament structural molecule activity NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CCCCCAAAACCACCTCCTCCA 0.592000 30 13 0 0 0.00136819 0 0 SPAM1 6677 broad.mit.edu 37 7 123594221 123594221 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:123594221C>T uc003vle.3 + 2 1036 c.597C>T c.(595-597)ttC>ttT p.F199F SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Silent_p.F199F|SPAM1_uc022aks.1_Silent_p.F199F|SPAM1_uc003vlf.4_Silent_p.F199F|SPAM1_uc010lku.3_Silent_p.F199F NM_003117 NP_003108 P38567 HYALP_HUMAN Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA. 199 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) GGAAGGATTTCCTGGTAGAGA 0.383000 39 12 0 0 0.00185496 0 0 SLC27A2 11001 broad.mit.edu 37 15 50528280 50528281 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:50528280_50528281CC>TT uc001zxw.3 + 9 2082_2083 c.1850_1851CC>TT c.(1849-1851)acc>aTT p.T617I SLC27A2_uc010bes.3_Missense_Mutation_p.T564I|SLC27A2_uc001zxx.3_Missense_Mutation_p.T382I NM_003645 NP_003636 O14975 S27A2_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA. 617 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) AGTGCTAAAACCCTGAAACTCT 0.376000 26 23 0 0 6.4e-05 0 0 CPSF7 79869 broad.mit.edu 37 11 61183697 61183697 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:61183697G>A uc001nrq.3 - 5 979 c.845C>T c.(844-846)cCt>cTt p.P282L CPSF7_uc001nrp.3_Missense_Mutation_p.P325L|CPSF7_uc001nrr.3_Missense_Mutation_p.P273L|CPSF7_uc001nrs.1_Missense_Mutation_p.P183L NM_001136040 NP_001129512 Q8N684 CPSF7_HUMAN Homo sapiens cleavage and polyadenylation specific factor 7, 59kDa (CPSF7), transcript variant 2, mRNA. 282 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex RNA binding|nucleotide binding|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 GATGGCCCCAGGGGGAGGTAC 0.592000 19 14 0 0 0.00316338 0 0 FOXJ2 55810 broad.mit.edu 37 12 8192620 8192620 + Silent SNP C T T rs148966560 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:8192620C>T uc001qtu.3 + 1 1277 c.192C>T c.(190-192)gaC>gaT p.D64D FOXJ2_uc001qtt.1_Silent_p.D64D NM_018416 NP_060886 Q9P0K8 FOXJ2_HUMAN Homo sapiens forkhead box J2 (FOXJ2), mRNA. 64 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|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 factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) TGCACCAGGACGGCAAGCCAC 0.587000 35 18 0 0 0.00074312 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67174403 67174403 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:67174403C>T uc001ola.3 + 7 783 c.754C>T c.(754-756)Ctg>Ttg p.L252L PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_Intron|TBC1D10C_uc001olb.3_Non-coding_Transcript NM_198517 NP_940919 Q8IV04 TB10C_HUMAN Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA. 252 Rab-GAP TBC. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCTGCTGTACCTGCCCGAGTG 0.677000 54 39 0 0 0.00285205 0 0 TBC1D1 23216 broad.mit.edu 37 4 38051416 38051416 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:38051416G>A uc003gtb.3 + 10 2165 c.1807G>A c.(1807-1809)Gaa>Aaa p.E603K TBC1D1_uc011byd.2_Missense_Mutation_p.E603K|TBC1D1_uc010ifd.3_Missense_Mutation_p.E350K|TBC1D1_uc011byf.1_Missense_Mutation_p.E474K NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA. 603 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CTTCCCCATCGAATGCCAGGA 0.597000 64 33 0 0 0.00375469 0 0 ANXA9 8416 broad.mit.edu 37 1 150957108 150957108 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:150957108G>A uc001ewa.2 + 6 898 c.428G>A c.(427-429)cGa>cAa p.R143Q NM_003568 NP_003559 O76027 ANXA9_HUMAN Homo sapiens annexin A9 (ANXA9), mRNA. 143 cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(4)|skin(2) 8 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|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) CTTGCCACTCGAACCCCACCC 0.542000 25 15 0 0 0.00316338 0 0 SLC4A11 83959 broad.mit.edu 37 20 3214775 3214775 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:3214775G>A uc010zqe.2 - 4 731 c.606C>T c.(604-606)ctC>ctT p.L202L SLC4A11_uc002wig.3_Silent_p.L175L|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.L159L NM_001174090 NP_001167561 Q8NBS3 S4A11_HUMAN Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA. 175 cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 GCATGGCCATGAGCAGGTCCA 0.667000 40 23 0 0 0.00395357 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39109266 39109266 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:39109266G>A uc004abi.3 - 14 2495 c.2256C>T c.(2254-2256)gtC>gtT p.V752V CNTNAP3_uc004abj.3_Silent_p.V751V|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.V752V NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA. 752 Fibrinogen C-terminal. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TTTGGGAAAGGACTATTGTGT 0.443000 19 7 0 0 0.00307968 0 0 ZNF132 7691 broad.mit.edu 37 19 58945690 58945690 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:58945690G>A uc002qst.4 - 2 1522 c.1121C>T c.(1120-1122)cCt>cTt p.P374L NM_003433 NP_003424 P52740 ZN132_HUMAN Homo sapiens zinc finger protein 132 (ZNF132), mRNA. 374 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) GCACTCAAAAGGCCTTTCTCC 0.458000 50 13 0 0 0.00400662 0 0 TMEM38B 55151 broad.mit.edu 37 9 108536321 108536321 + Missense_Mutation SNP C T T rs140344242 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:108536321C>T uc004bcu.1 + 5 953 c.836C>T c.(835-837)tCa>tTa p.S279L TMEM38B_uc010mtn.1_3'UTR NM_018112 NP_060582 Q9NVV0 TM38B_HUMAN Homo sapiens transmembrane protein 38B (TMEM38B), mRNA. 279 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 GATGTTGCCTCAGATAATGTT 0.388000 44 33 0 0 0.00375469 0 0 TUBA3C 7278 broad.mit.edu 37 13 19752519 19752519 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:19752519C>T uc009zzj.3 - 2 347 c.242G>A c.(241-243)gGa>gAa p.G81E NM_006001 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA. 81 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CCTATAGGTTCCTGTGCGCAC 0.488000 59 45 0 0 0.00361006 0 0 SPRYD3 84926 broad.mit.edu 37 12 53470942 53470942 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:53470942G>A uc001sbt.2 - 1 214 c.127C>T c.(127-129)Cag>Tag p.Q43* SPRYD3_uc010snw.2_5'UTR NM_032840 NP_116229 Q8NCJ5 SPRY3_HUMAN Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA. 43 B30.2/SPRY. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 AACCTCTCCTGATATCGGAAA 0.468000 48 23 0 0 0.00395357 0 0 CDK3 1018 broad.mit.edu 37 17 73998030 73998030 + Silent SNP C T T rs150589656 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:73998030C>T uc002jqg.4 + 4 2028 c.276C>T c.(274-276)gtC>gtT p.V92V CDK3_uc010dgt.3_Silent_p.V64V NM_001258 NP_001249 Q00526 CDK3_HUMAN Homo sapiens cyclin-dependent kinase 3 (CDK3), mRNA. 64 Protein kinase. cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 CCAACATCGTCCGGTGAGTTG 0.592000 27 13 0 0 0.00185496 0 0 TIMMDC1 51300 broad.mit.edu 37 3 119222389 119222389 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:119222389A>T uc003ecn.3 + 2 584 c.371A>T c.(370-372)cAt>cTt p.H124L TIMMDC1_uc003eco.3_Non-coding_Transcript|TIMMDC1_uc003ecp.3_Non-coding_Transcript NM_016589 NP_057673 Q9NPL8 TIDC1_HUMAN Homo sapiens translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1), nuclear gene encoding mitochondrial protein, mRNA. 124 integral to membrane|mitochondrial inner membrane protein transporter activity p.A123P(1) autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 15 CAATCTGCACATCGTGCTGCC 0.408000 15 7 0 0 0.00198382 0 0 KANK4 163782 broad.mit.edu 37 1 62733995 62733995 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:62733995C>T uc001dah.4 - 4 2572 c.2195G>A c.(2194-2196)gGg>gAg p.G732E KANK4_uc001dai.4_Missense_Mutation_p.G104E|KANK4_uc001dag.4_Missense_Mutation_p.G88E NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA. 732 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 TTCCCCAGGCCCACTTTCCTG 0.577000 36 13 0 0 0.00244969 0 0 INPP5D 3635 broad.mit.edu 37 2 234079226 234079226 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:234079226G>A uc010zmo.2 + 14 1942 c.1789G>A c.(1789-1791)Gag>Aag p.E597K INPP5D_uc010zmp.2_Missense_Mutation_p.E596K NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 626 T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration cytosol SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) AGAGAGGAGGGAGCAGAAGGT 0.582000 27 14 0 0 0.00400662 0 0 LRP1 4035 broad.mit.edu 37 12 57585135 57585135 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:57585135C>T uc001snd.3 + 43 7735 c.7269C>T c.(7267-7269)ttC>ttT p.F2423F NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 2423 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TCCACCCCTTCGGGCTGGCCG 0.617000 21 7 0 0 0.00198382 0 0 STK31 56164 broad.mit.edu 37 7 23825120 23825120 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:23825120G>A uc003sws.4 + 17 2239 c.2172G>A c.(2170-2172)atG>atA p.M724I STK31_uc003swt.4_Missense_Mutation_p.M701I|STK31_uc011jze.2_Missense_Mutation_p.M724I|STK31_uc010kuq.3_Missense_Mutation_p.M701I|STK31_uc003swv.1_5'Flank NM_031414 NP_116562 Q9BXU1 STK31_HUMAN Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA. 724 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity p.M724I(2) 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 TCCTTACAATGAGCTTGGAAC 0.393000 64 34 0 0 0.00327116 0 0 XRN2 22803 broad.mit.edu 37 20 21314391 21314391 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:21314391T>C uc002wsf.1 + 10 1078 c.983T>C c.(982-984)gTt>gCt p.V328A XRN2_uc002wsg.1_Missense_Mutation_p.V252A|XRN2_uc010zsk.1_Missense_Mutation_p.V274A NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA. 328 DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 ACATTTGATGTTGAGAGGAGC 0.428000 161 70 0 0 0.00361006 0 0 SLC9C1 285335 broad.mit.edu 37 3 111958766 111958766 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:111958766G>A uc003dyu.3 - 11 1589 c.1367C>T c.(1366-1368)gCc>gTc p.A456V SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Missense_Mutation_p.A408V NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA. 456 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity AAATTTAAGGGCAGAGGCTGC 0.363000 45 18 0 0 0.000958276 0 0 ABO 28 broad.mit.edu 37 9 136137530 136137530 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:136137530G>A uc004cda.1 - 1 95 c.70C>T c.(70-72)Cta>Tta p.L24L ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_5'UTR|ABO_uc010nag.1_Intron NM_020469 NP_065202 P16442 BGAT_HUMAN Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA. 24 protein glycosylation Golgi cisterna membrane|extracellular region|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) AGCATTATTAGGAAAAGGATC 0.483000 35 6 0 0 0.00307968 0 0 BCAS3 54828 broad.mit.edu 37 17 59118169 59118169 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:59118169G>A uc002iyv.4 + 19 2099 c.1990G>A c.(1990-1992)Gaa>Aaa p.E664K BCAS3_uc002iyu.4_Missense_Mutation_p.E649K|BCAS3_uc002iyw.4_Missense_Mutation_p.E645K|BCAS3_uc002iyy.4_Missense_Mutation_p.E420K|BCAS3_uc002iyz.4_Missense_Mutation_p.E218K|BCAS3_uc002iza.4_Missense_Mutation_p.E203K NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA. 664 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TCAATGGAATGAATTGCAGCC 0.413000 110 80 0 0 0.00361006 0 0 GRM8 2918 broad.mit.edu 37 7 126079219 126079219 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:126079219G>A uc003vlr.2 - 9 2992 c.2681C>T c.(2680-2682)tCc>tTc p.S894F GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_3'UTR|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 894 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane p.S894F(2) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CTTGGTAGAGGAAGCTGTTAA 0.284000 HNSCC(24;0.065) 126 54 0 0 0.00361006 0 0 PTPRB 5787 broad.mit.edu 37 12 70988436 70988436 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:70988436C>T uc001swb.4 - 3 703 c.673G>A c.(673-675)Ggt>Agt p.G225S PTPRB_uc010sto.2_Missense_Mutation_p.G225S|PTPRB_uc010stp.2_Missense_Mutation_p.G225S|PTPRB_uc001swc.4_Missense_Mutation_p.G443S|PTPRB_uc001swa.4_Missense_Mutation_p.G443S|PTPRB_uc001swd.4_Missense_Mutation_p.G442S|PTPRB_uc009zrr.2_Missense_Mutation_p.G322S|PTPRB_uc001swe.3_Missense_Mutation_p.G443S NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 225 Fibronectin type-III 3. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TTCCCAGAACCATGGGACCAG 0.438000 40 18 0 0 0.00188189 0 0 EPN1 29924 broad.mit.edu 37 19 56203242 56203242 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:56203242C>T uc002qlw.3 + 6 1227 c.885C>T c.(883-885)ccC>ccT p.P295P EPN1_uc002qlv.3_Silent_p.P270P|EPN1_uc010etd.3_Silent_p.P295P|EPN1_uc002qlx.3_Silent_p.P381P NM_001130072 NP_001123544 Q9Y6I3 EPN1_HUMAN Homo sapiens epsin 1 (EPN1), transcript variant 2, mRNA. 295 8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) CCTCGGACCCCTGGGGCGGCC 0.756000 9 10 0 0 0.000673444 0 0 BTBD9 114781 broad.mit.edu 37 6 38256186 38256186 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:38256186C>T uc003ooa.4 - 8 1892 c.1316G>A c.(1315-1317)gGa>gAa p.G439E BTBD9_uc010jwv.3_Missense_Mutation_p.G409E|BTBD9_uc003ony.4_Missense_Mutation_p.G371E|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.G439E NM_052893 NP_689946 Q96Q07 BTBD9_HUMAN Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA. 439 cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 CCGACTGACTCCTTCAATCAC 0.453000 55 20 0 0 0.00278032 0 0 FLNA 2316 broad.mit.edu 37 X 153583356 153583356 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:153583356G>A uc004fkk.2 - 30 5303 c.5054C>T c.(5053-5055)aCg>aTg p.T1685M FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Missense_Mutation_p.T1677M NM_001110556 NP_001104026 P21333 FLNA_HUMAN Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA. 1685 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CACGGTGCACGTCACTTTGCC 0.622000 OREG0003595 type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 14 21 0 0 0.00229938 0 0 LRRN4 164312 broad.mit.edu 37 20 6025272 6025272 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:6025272C>T uc002wmo.2 - 3 1139 c.915G>A c.(913-915)tcG>tcA p.S305S NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA. 305 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 AGAGGTTGATCGATAGGACCT 0.438000 26 13 0 0 0.00244969 0 0 COL21A1 81578 broad.mit.edu 37 6 56029616 56029616 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:56029616C>T uc003pcs.3 - 7 1515 c.1283G>A c.(1282-1284)gGa>gAa p.G428E COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.G428E|COL21A1_uc003pcu.1_Intron NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 428 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GCCTACCTCTCCATTCTGAAA 0.299000 20 8 0 0 0.000442599 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58601606 58601606 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:58601606G>A uc010yht.1 - 1 227 c.197C>T c.(196-198)tCc>tTc p.S66F ZSCAN18_uc002qrj.3_Missense_Mutation_p.S10F|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.S10F|ZSCAN18_uc002qri.2_Missense_Mutation_p.S10F|ZSCAN18_uc002qrk.1_Missense_Mutation_p.S10F|ZSCAN18_uc002qrl.2_Missense_Mutation_p.S10F NM_001145542 NP_001139014 Q8TBC5 ZSC18_HUMAN Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA. 10 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GCTCCTGGGGGAGGCAAACGC 0.622000 37 21 0 0 0.00278032 0 0 ABCC10 89845 broad.mit.edu 37 6 43412653 43412653 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:43412653C>T uc003ouy.1 + 12 3032 c.2817C>T c.(2815-2817)ctC>ctT p.L939L ABCC10_uc003ouz.1_Silent_p.L911L|ABCC10_uc010jyo.1_Silent_p.L45L NM_001198934 NP_001185863 Q5T3U5 MRP7_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA. 939 ABC transmembrane type-1 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CGCAGCTGCTCCTCTTTTCCC 0.617000 60 24 0 0 0.000878237 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31126557 31126557 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:31126557G>A uc003tca.2 + 11 1113 c.824_splice c.e11-1 p.G275_splice ADCYAP1R1_uc003tcg.3_Splice_Site_p.G275_splice|ADCYAP1R1_uc003tce.2_Splice_Site_p.G275_splice|ADCYAP1R1_uc003tcb.2_Splice_Site_p.G254_splice|ADCYAP1R1_uc003tcc.2_Splice_Site_p.G275_splice|ADCYAP1R1_uc003tcf.1_Splice_Site NM_001118 NP_001109 P41586 PACR_HUMAN Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA. 275 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 GTTCTCCCAGGGACCCCAACT 0.537000 81 27 0 0 0.00283554 0 0 TG 7038 broad.mit.edu 37 8 133919002 133919002 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:133919002C>T uc003ytw.3 + 16 3745 c.3704C>T c.(3703-3705)tCg>tTg p.S1235L TG_uc010mdw.3_5'UTR NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 1235 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GAGACAATCTCGGGCCCCACA 0.622000 35 12 0 0 0.00244969 0 0 C9orf114 51490 broad.mit.edu 37 9 131589467 131589467 + Missense_Mutation SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:131589467C>A uc004bwd.3 - 3 253 c.212G>T c.(211-213)cGg>cTg p.R71L NM_016390 NP_057474 Q5T280 CI114_HUMAN Homo sapiens chromosome 9 open reading frame 114 (C9orf114), mRNA. 71 kidney(2)|large_intestine(4)|ovary(1) 7 TGTGTAGGGCCGCCCTGAGCA 0.617000 21 11 0.000673444 0.00210748 0.000673444 1 0 KCNN1 3780 broad.mit.edu 37 19 18092692 18092692 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:18092692G>A uc002nht.3 + 4 983 c.673G>A c.(673-675)Gac>Aac p.D225N KCNN1_uc010xqa.1_Missense_Mutation_p.D225N NM_002248 NP_002239 Q92952 KCNN1_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA. 225 synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 8 GGCCGAGGCCGACGTGGACGT 0.672000 12 7 0 0 0.00307968 0 0 CTR9 9646 broad.mit.edu 37 11 10797129 10797129 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:10797129C>T uc001mja.3 + 23 3193 c.3044C>T c.(3043-3045)tCa>tTa p.S1015L NM_014633 NP_055448 Q6PD62 CTR9_HUMAN Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA. 1015 Ser-rich. histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GCCATAATTTCATCAAGTGAT 0.343000 16 8 0 0 0.00307968 0 0 HLA-DRB5 3127 broad.mit.edu 37 6 32549500 32549500 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32549500C>T uc003obp.4 - 2 580 c.486G>A c.(484-486)ctG>ctA p.L162L HLA-DRB5_uc003obk.4_Intron|HLA-DRB5_uc021yvx.1_Intron|HLA-DRB5_uc003obo.1_Intron|HLA-DRB5_uc011dqb.1_5'UTR|HLA-DRB5_uc011dqc.1_5'UTR NM_002124 NP_002115 Q30154 DRB5_HUMAN Homo sapiens major histocompatibility complex, class II, DR beta 1 (HLA-DRB1), transcript variant 1, mRNA. 162 Beta-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2) 10 CCTGGCCGTTCAGGAACCACC 0.547000 129 7 0 0 0.000274275 0 0 AUTS2 26053 broad.mit.edu 37 7 70255516 70255516 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:70255516C>T uc003tvw.4 + 18 4049 c.3314C>T c.(3313-3315)tCg>tTg p.S1105L AUTS2_uc003tvx.4_Missense_Mutation_p.S1081L|AUTS2_uc011keg.2_Missense_Mutation_p.S557L NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA. 1105 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CACCGGCTCTCGACTCCCCGG 0.647000 7 6 0 0 0.00198382 0 0 PFKFB4 5210 broad.mit.edu 37 3 48576723 48576723 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:48576723G>A uc003ctv.3 - 5 491 c.474C>T c.(472-474)atC>atT p.I158I PFKFB4_uc003ctx.3_Silent_p.I115I|PFKFB4_uc010hkb.3_Silent_p.I158I|PFKFB4_uc003ctw.3_5'UTR|PFKFB4_uc010hkc.3_Silent_p.I158I|PFKFB4_uc011bbm.2_Silent_p.I147I|PFKFB4_uc011bbn.1_Non-coding_Transcript NM_004567 NP_004558 Q16877 F264_HUMAN Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA. 158 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) GATCCACACAGATGGACTCGA 0.567000 17 20 0 0 0.00332997 0 0 SNAP47 116841 broad.mit.edu 37 1 227968262 227968262 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:227968262C>T uc001hrf.2 + 4 1697 c.1283C>T c.(1282-1284)gCc>gTc p.A428V SNAP47_uc001hra.2_Missense_Mutation_p.A186V NM_053052 NP_444280 Q5SQN1 SNP47_HUMAN Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA. 428 t-SNARE coiled-coil homology 2. endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 GCCCTGGAGGCCGAGAGTGAG 0.572000 25 16 0 0 0.00121646 0 0 OR6C4 341418 broad.mit.edu 37 12 55945239 55945239 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:55945239C>T uc010spp.2 + 0 229 c.229C>T c.(229-231)Ccc>Tcc p.P77S NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA. 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 CATTTTTATTCCCAGATTTCT 0.418000 84 36 0 0 0.00327116 0 0 CAMK1G 57172 broad.mit.edu 37 1 209785559 209785560 + Nonsense_Mutation DNP AC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:209785559_209785560AC>TT uc001hhd.3 + 10 1440_1441 c.1338_1339AC>TT c.(1336-1341)aaacag>aaTTag p.446_447KQ>N* CAMK1G_uc001hhf.4_Nonsense_Mutation_p.446_447KQ>N*|CAMK1G_uc001hhe.3_Nonsense_Mutation_p.446_447KQ>N* NM_020439 NP_065172 Q96NX5 KCC1G_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA. 446 Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) CCAACAAAAAACAGTACGTATT 0.510000 31 8 0 0 6.4e-05 0 0 PLCXD2 257068 broad.mit.edu 37 3 111426916 111426916 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:111426916C>T uc003dya.3 + 1 877 c.307C>T c.(307-309)Cga>Tga p.R103* PLCXD2_uc003dxz.3_Nonsense_Mutation_p.R103* NM_001185106 NP_001172035 Q0VAA5 PLCX2_HUMAN Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA. 103 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 CCTGACATTTCGAGAACAGCT 0.522000 54 20 0 0 0.00152264 0 0 ZMYM4 9202 broad.mit.edu 37 1 35851166 35851166 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:35851166T>C uc001byt.3 + 9 1773 c.1693T>C c.(1693-1695)Tac>Cac p.Y565H ZMYM4_uc009vuu.3_Missense_Mutation_p.Y533H|ZMYM4_uc001byu.3_Missense_Mutation_p.Y241H|ZMYM4_uc009vuv.3_Missense_Mutation_p.Y304H NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA. 565 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTTATCTGCTTACAGAGTTAA 0.343000 53 18 0 0 0.00152264 0 0 C16orf62 57020 broad.mit.edu 37 16 19651383 19651383 + Missense_Mutation SNP G A A rs144364706 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:19651383G>A uc002dgn.2 + 20 2060 c.1745G>A c.(1744-1746)cGg>cAg p.R582Q C16orf62_uc002dgo.2_Missense_Mutation_p.R604Q|C16orf62_uc002dgp.2_Missense_Mutation_p.R331Q NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA. 582 integral to membrane p.R582W(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 GAGAGTGTGCGGGTGGAGGTT 0.433000 61 5 0 0 0.00116845 0 0 LHCGR 3973 broad.mit.edu 37 2 48914995 48914995 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:48914995C>T uc002rwu.4 - 10 2011 c.1941G>A c.(1939-1941)cgG>cgA p.R647R STON1-GTF2A1L_uc021vhf.1_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA. 647 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) AAAGTTCAGCCCGACGTTTAC 0.383000 88 27 0 0 0.00106085 0 0 SLC38A4 55089 broad.mit.edu 37 12 47181746 47181746 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:47181746G>A uc001rpi.2 - 4 678 c.279C>T c.(277-279)atC>atT p.I93I SLC38A4_uc001rpj.2_Silent_p.I93I|SLC38A4_uc009zkl.2_Silent_p.I93I NM_018018 NP_060488 Q969I6 S38A4_HUMAN Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA. 93 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) ACAAGCCCAGGATCCCACTGC 0.428000 42 19 0 0 0.00188189 0 0 SLC22A9 114571 broad.mit.edu 37 11 63174092 63174092 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:63174092G>A uc001nww.3 + 6 1465 c.1197G>A c.(1195-1197)tgG>tgA p.W399* SLC22A9_uc001nwx.3_Non-coding_Transcript NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA. 399 transmembrane transport integral to membrane p.W399L(1) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 TTGCACCTTGGGCACTGAAAT 0.488000 27 22 0 0 0.00229938 0 0 NDRG3 57446 broad.mit.edu 37 20 35312868 35312868 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:35312868G>A uc002xfw.3 - 5 473 c.331C>T c.(331-333)Ccc>Tcc p.P111S NDRG3_uc002xfx.3_Missense_Mutation_p.P99S|NDRG3_uc010zvq.2_Missense_Mutation_p.P16S|NDRG3_uc010zvr.2_5'UTR NM_032013 NP_114402 Q9UGV2 NDRG3_HUMAN Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA. 111 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) TCCATTGTGGGGTACTGATAC 0.433000 36 23 0 0 0.000720815 0 0 ZNF143 7702 broad.mit.edu 37 11 9534078 9534078 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:9534078G>A uc001mhr.3 + 12 1578 c.1459G>A c.(1459-1461)Gcc>Acc p.A487T ZNF143_uc009yfu.3_Missense_Mutation_p.A486T|ZNF143_uc010rby.2_Missense_Mutation_p.A456T NM_003442 NP_003433 P52747 ZN143_HUMAN Homo sapiens zinc finger protein 143 (ZNF143), mRNA. 487 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 13 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) TACACAAGTAGCCACAGTAAC 0.413000 47 22 0 0 0.00229938 0 0 SPEF2 79925 broad.mit.edu 37 5 35740274 35740274 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:35740274G>A uc003jjo.3 + 22 3346 c.3235G>A c.(3235-3237)Gat>Aat p.D1079N SPEF2_uc003jjp.1_Missense_Mutation_p.D565N NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1079 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCACAAGCAAGATTTTGTAGC 0.393000 59 25 0 0 0.000720815 0 0 POMC 5443 broad.mit.edu 37 2 25384144 25384144 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:25384144C>T uc002rfy.1 - 3 873 c.610G>A c.(610-612)Gac>Aac p.D204N POMC_uc002rfz.1_Missense_Mutation_p.D204N|POMC_uc002rga.1_Missense_Mutation_p.D204N NM_001035256 NP_001030333 P01189 COLI_HUMAN Homo sapiens proopiomelanocortin (POMC), transcript variant 1, mRNA. 204 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding p.D204N(2) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) TGCTCCAGGTCGGCCTGGGCC 0.701000 8 4 0 0 0.000602214 0 0 RNF133 168433 broad.mit.edu 37 7 122338165 122338165 + Missense_Mutation SNP G A A rs113296018 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:122338165G>A uc003vkj.1 - 0 1044 c.808C>T c.(808-810)Cgt>Tgt p.R270C CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN Homo sapiens ring finger protein 133 (RNF133), mRNA. 270 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding p.V269I(1) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 GTCAGAATACGAACTATGTCA 0.388000 51 44 0 0 0.00361006 0 0 KIRREL 55243 broad.mit.edu 37 1 158059514 158059514 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:158059514C>T uc001frn.4 + 9 1582 c.1178C>T c.(1177-1179)cCc>cTc p.P393L KIRREL_uc010pib.2_Missense_Mutation_p.P293L|KIRREL_uc009wsq.3_Missense_Mutation_p.P229L|KIRREL_uc001fro.4_Missense_Mutation_p.P207L NM_018240 NP_060710 Q96J84 KIRR1_HUMAN Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA. 393 Ig-like C2-type 5. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GCAGGGCCCCCCATCATCTCC 0.587000 48 24 0 0 0.00106085 0 0 MERTK 10461 broad.mit.edu 37 2 112705122 112705122 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:112705122C>T uc002thk.1 + 3 857 c.735C>T c.(733-735)tcC>tcT p.S245S MERTK_uc002thl.1_Silent_p.S69S NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 245 Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 CTGAAAAATCCCCCTCCGTGC 0.512000 43 13 0 0 0.00244969 0 0 DMRT1 1761 broad.mit.edu 37 9 847071 847071 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:847071C>T uc003zgv.3 + 1 615 c.466C>T c.(466-468)Ccg>Tcg p.P156S DMRT1_uc003zgu.1_Missense_Mutation_p.P156S NM_021951 NP_068770 Q9Y5R6 DMRT1_HUMAN Homo sapiens doublesex and mab-3 related transcription factor 1 (DMRT1), mRNA. 156 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(10)|ovary(1) 13 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) TGGCAGTAACCCGTGCCTCAT 0.607000 16 13 0 0 0.00316338 0 0 TNXB 7148 broad.mit.edu 37 6 32037450 32037450 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32037450C>T uc003nzl.2 - 14 5669 c.5467G>A c.(5467-5469)Gag>Aag p.E1823K NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1905 Fibronectin type-III 10. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AGGCTGCCCTCCACGGGCACC 0.662000 170 59 0 0 0.00361006 0 0 APOB 338 broad.mit.edu 37 2 21230775 21230775 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:21230775G>A uc002red.3 - 25 9093 c.8965C>T c.(8965-8967)Caa>Taa p.Q2989* NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2989 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) ACTTGTGATTGAATTTCAAGT 0.428000 353 173 0 0 0.00361006 0 0 IMPG2 50939 broad.mit.edu 37 3 100992530 100992530 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:100992530C>T uc003duq.2 - 6 926 c.723G>A c.(721-723)caG>caA p.Q241Q IMPG2_uc011bhe.2_Silent_p.Q104Q NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA. 241 SEA 1. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 ATTCTGCAATCTGTTCACCTG 0.383000 26 20 0 0 0.00121646 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140307492 140307492 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140307492G>A uc003lih.2 + 0 1191 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.E339K NM_018898 NP_061721 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA. 364 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.E339K(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCATGCCCCCGAACTGGACTT 0.522000 78 35 0 0 0.00148497 0 0 LPA 4018 broad.mit.edu 37 6 160963746 160963746 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:160963746C>T uc003qtl.3 - 34 5613 c.5493G>A c.(5491-5493)tgG>tgA p.W1831* NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 4339 Kringle 16. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CTTGCCAGGGCCAGGAATGTG 0.507000 47 19 0 0 0.00121646 0 0 TSPAN32 10077 broad.mit.edu 37 11 2339110 2339110 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:2339110C>T uc001lvy.1 + 9 1056 c.919C>T c.(919-921)Cgc>Tgc p.R307C TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Missense_Mutation_p.R277C|TSPAN32_uc001lwb.1_Missense_Mutation_p.S216L|TSPAN32_uc001lwc.1_Missense_Mutation_p.R252C|TSPAN32_uc001lwd.1_Missense_Mutation_p.R239C NM_139022 NP_620591 Q96QS1 TSN32_HUMAN Homo sapiens tetraspanin 32 (TSPAN32), mRNA. 307 cell-cell signaling integral to membrane breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1) 8 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) gggcagaagtcgcggtgggct 0.587000 16 7 0 0 0.000673444 0 0 LRP5L 91355 broad.mit.edu 37 22 25755824 25755824 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:25755824G>A uc003abs.3 - 0 2701 c.236C>T c.(235-237)cCc>cTc p.P79L LRP5L_uc011ajz.2_Missense_Mutation_p.P79L|LRP5L_uc010guw.1_Missense_Mutation_p.P79L NM_182492 NP_872298 A4QPB2 LRP5L_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5-like (LRP5L), transcript variant 1, mRNA. 79 central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 6 AATGGCACGGGGCTCGTCCAT 0.607000 62 19 0 0 0.00188189 0 0 RDH8 50700 broad.mit.edu 37 19 10131966 10131966 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:10131966A>G uc002mmr.3 + 4 821 c.572A>G c.(571-573)gAg>gGg p.E191G NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA. 191 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) GTGGTCACCGAGTTTGAGGGG 0.592000 27 12 0 0 0.00244969 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717313 13717313 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:13717313G>A uc001rbt.2 - 12 3038 c.2859C>T c.(2857-2859)ccC>ccT p.P953P NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 953 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding p.P953P(2) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCTCCTCACAGGGCGGGTTGT 0.547000 74 38 0 0 0.00111076 0 0 ITIH2 3698 broad.mit.edu 37 10 7763687 7763687 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:7763687G>A uc001ijs.3 + 7 976 c.814G>A c.(814-816)Gaa>Aaa p.E272K NM_002216 NP_002207 P19823 ITIH2_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA. 272 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GGTAGATGGGGAACTGGTGGT 0.552000 76 31 0 0 0.00148497 0 0 ASPM 259266 broad.mit.edu 37 1 197071057 197071057 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:197071057G>A uc001gtu.3 - 17 7581 c.7324C>T c.(7324-7326)Cga>Tga p.R2442* ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Nonsense_Mutation_p.R290* NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA. 2442 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 ATGGTGGCTCGATATTTCCTC 0.373000 60 27 0 0 0.001512 0 0 NEB 4703 broad.mit.edu 37 2 152499129 152499129 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:152499129G>A uc021vrb.1 - 57 8361 c.8332C>T c.(8332-8334)Cct>Tct p.P2778S NEB_uc002txu.3_Missense_Mutation_p.P2778S|NEB_uc021vrc.1_Missense_Mutation_p.P2778S|NEB_uc010fnx.3_Missense_Mutation_p.P2778S|NEB_uc021vrd.1_Missense_Mutation_p.P2778S NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 2778 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GCCTTGATAGGAATGGCATCT 0.378000 50 17 0 0 0.00121646 0 0 PIF1 80119 broad.mit.edu 37 15 65114806 65114806 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:65114806C>T uc002ant.2 - 2 628 c.562G>A c.(562-564)Gcc>Acc p.A188T PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Missense_Mutation_p.A188T|PIF1_uc002anu.3_Missense_Mutation_p.A188T NM_025049 NP_079325 Q9H611 PIF1_HUMAN Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA. 188 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding kidney(1)|lung(1) 2 CACCTTGGGGCTTCCTGGGGG 0.617000 5 13 0 0 0.00316338 0 0 RAI2 10742 broad.mit.edu 37 X 17818679 17818679 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:17818679C>T uc022btm.1 - 0 1452 c.1452G>A c.(1450-1452)ggG>ggA p.G484G RAI2_uc004cyf.3_Silent_p.G484G|RAI2_uc004cyg.3_Silent_p.G484G|RAI2_uc011miy.2_Silent_p.G434G|RAI2_uc022btl.1_Silent_p.G484G|RAI2_uc004cyh.4_Silent_p.G484G|RAI2_uc010nfa.3_Silent_p.G484G NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA. 484 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) TGGACTCTTCCCCTTGGCTGT 0.478000 66 138 0 0 0.00361006 0 0 PRLR 5618 broad.mit.edu 37 5 35065447 35065447 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:35065447C>T uc003jjm.3 - 9 2172 c.1613G>A c.(1612-1614)gGg>gAg p.G538E PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.G437E|PRLR_uc021xxl.1_Silent_p.R347R NM_000949 NP_000940 P16471 PRLR_HUMAN Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA. 538 T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process 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) CTCAGGAGTCCCGGGCTTCTT 0.483000 49 13 0 0 0.00244969 0 0 COL14A1 7373 broad.mit.edu 37 8 121381652 121381652 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:121381652C>T uc003yox.3 + 46 5504 c.5239C>T c.(5239-5241)Cct>Tct p.P1747S COL14A1_uc003yoz.3_Missense_Mutation_p.P712S NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 1747 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging p.P1747S(2) NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TCTGGGGGTTCCTGGACCCCA 0.597000 48 19 0 0 0.00229938 0 0 FMN2 56776 broad.mit.edu 37 1 240492397 240492397 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:240492397G>A uc010pye.2 + 9 4474 c.4249G>A c.(4249-4251)Gaa>Aaa p.E1417K FMN2_uc010pyd.2_Missense_Mutation_p.E1413K|FMN2_uc010pyf.1_Missense_Mutation_p.E59K|FMN2_uc010pyg.2_Missense_Mutation_p.E9K NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 1413 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.G1416V(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AGACGAACTCGAAAAAATAGA 0.378000 64 23 0 0 0.00229938 0 0 PPT1 5538 broad.mit.edu 37 1 40557736 40557736 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:40557736A>G uc001cfb.2 - 2 575 c.343T>C c.(343-345)Tcc>Ccc p.S115P PPT1_uc010ojf.1_Missense_Mutation_p.S65P|PPT1_uc010ojg.1_Intron|PPT1_uc009vwa.2_Non-coding_Transcript NM_000310 NP_000301 P50897 PPT1_HUMAN Homo sapiens palmitoyl-protein thioesterase 1 (PPT1), transcript variant 1, mRNA. 115 DNA fragmentation involved in apoptotic nuclear change|brain development|cofactor metabolic process|cofactor transport|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception Golgi apparatus|axon|cytosol|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1) 11 Lung NSC(20;3.43e-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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCTCCCTGGGAGAATCCCATA 0.388000 63 34 0 0 0.00128727 0 0 AP5M1 55745 broad.mit.edu 37 14 57752955 57752955 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:57752955C>T uc001xcv.3 + 6 1735 c.1308C>T c.(1306-1308)atC>atT p.I436I AP5M1_uc010tri.2_Silent_p.I190I|AP5M1_uc010trj.2_Silent_p.I333I NM_018229 NP_060699 Q9H0R1 MUDEN_HUMAN Homo sapiens MU-2/AP1M2 domain containing, death-inducing (MUDENG), transcript variant 1, mRNA. 436 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex ATTTTAGGATCTTAGATTACA 0.343000 55 49 0 0 0.00361006 0 0 C16orf62 57020 broad.mit.edu 37 16 19693631 19693631 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:19693631G>A uc002dgn.2 + 27 2761 c.2446G>A c.(2446-2448)Gag>Aag p.E816K C16orf62_uc002dgo.2_Missense_Mutation_p.E812K|C16orf62_uc002dgp.2_Missense_Mutation_p.E565K NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA. 816 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 CAACAGCGATGAGAAAATCCG 0.532000 54 16 0 0 0.00316338 0 0 IL6ST 3572 broad.mit.edu 37 5 55265424 55265424 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:55265424G>A uc003jqq.3 - 3 637 c.324C>T c.(322-324)ttC>ttT p.F108F IL6ST_uc003jqp.3_Intron|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_5'UTR|IL6ST_uc003jqr.3_Silent_p.F108F|IL6ST_uc010iwb.3_Silent_p.F108F|IL6ST_uc010iwf.1_Intron NM_002184 NP_002175 P40189 IL6RB_HUMAN Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA. 108 Ig-like C2-type. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) CAAGCTGTCCGAATGTAAGAA 0.338000 O hepatocellular ca 31 15 0 0 0.00400662 0 0 FLNC 2318 broad.mit.edu 37 7 128495345 128495345 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:128495345C>T uc003vnz.4 + 42 7437 c.7228C>T c.(7228-7230)Cgt>Tgt p.R2410C FLNC_uc003voa.4_Missense_Mutation_p.R2377C NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 2410 Interaction with INPPL1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGACGCTCGCCGTCTCACTGT 0.592000 32 17 0 0 0.00074312 0 0 KRT4 3851 broad.mit.edu 37 12 53207707 53207707 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:53207707C>T uc001saz.3 - 0 358 c.358G>A c.(358-360)Gga>Aga p.G120R NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN Homo sapiens keratin 4 (KRT4), mRNA. 46 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 CTGCCAAATCCCCCAGAAGAG 0.602000 108 34 0 0 0.00327116 0 0 AKNAD1 254268 broad.mit.edu 37 1 109395173 109395173 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:109395173C>T uc001dwa.3 - 1 383 c.114G>A c.(112-114)aaG>aaA p.K38K AKNAD1_uc010ovb.2_Intron|AKNAD1_uc001dwb.3_Non-coding_Transcript NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA. 38 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 CAAGGCCATCCTTTTTTGAGG 0.388000 77 56 0 0 0.00361006 0 0 NTRK3 4916 broad.mit.edu 37 15 88423523 88423523 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:88423523C>T uc002bme.2 - 18 2618 c.2312G>A c.(2311-2313)tGg>tAg p.W771* NTRK3_uc002bmh.2_Nonsense_Mutation_p.W749*|NTRK3_uc002bmf.2_Nonsense_Mutation_p.W757*|NTRK3_uc021sua.1_Nonsense_Mutation_p.W749* NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA. 771 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) GAGTTGGAACCATGGCTGCTT 0.507000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 39 80 0 0 0.00361006 0 0 PTPRT 11122 broad.mit.edu 37 20 41420048 41420048 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:41420048G>A uc002xkg.3 - 2 457 c.273C>T c.(271-273)ctC>ctT p.L91L PTPRT_uc010ggj.3_Silent_p.L91L NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 91 MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGGTTGGCAGGAGAAGGTGGG 0.547000 12 7 0 0 0.00307968 0 0 EYA2 2139 broad.mit.edu 37 20 45801394 45801394 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:45801394C>T uc002xsm.3 + 11 1451 c.1077C>T c.(1075-1077)gcC>gcT p.A359A EYA2_uc010ghp.3_Silent_p.A359A|EYA2_uc002xsq.3_Silent_p.A329A NM_005244 NP_005235 O00167 EYA2_HUMAN Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA. 359 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) ACAGTTCGGCCCCAGGAGCCA 0.632000 17 45 0 0 0.00361006 0 0 TTN 7273 broad.mit.edu 37 2 179645883 179645883 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179645883C>T uc021vsy.1 - 20 3713 c.3488G>A c.(3487-3489)gGa>gAa p.G1163E TTN_uc021vsz.1_Missense_Mutation_p.G1117E|TTN_uc021vta.1_Missense_Mutation_p.G1117E|TTN_uc021vtb.1_Missense_Mutation_p.G1117E|TTN_uc002unb.2_Missense_Mutation_p.G1163E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1163 Ig-like 4. 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) AGAAGTTTCTCCATGCTTATT 0.408000 58 12 0 0 0.000978159 0 0 ANGPT1 284 broad.mit.edu 37 8 108264096 108264096 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:108264096G>A uc003ymn.3 - 8 1952 c.1484C>T c.(1483-1485)cCt>cTt p.P495L ANGPT1_uc011lhv.2_Missense_Mutation_p.P295L|ANGPT1_uc003ymo.3_Missense_Mutation_p.P494L NM_001146 NP_001137 Q15389 ANGP1_HUMAN Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA. 495 Fibrinogen C-terminal. Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding p.R494Q(1) NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) AAAATCTAAAGGTCGAATCAT 0.418000 59 26 0 0 0.000878237 0 0 SUSD4 55061 broad.mit.edu 37 1 223465812 223465812 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:223465812G>A uc001hnx.3 - 1 964 c.330C>T c.(328-330)atC>atT p.I110I SUSD4_uc001hny.4_Silent_p.I110I|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Silent_p.I110I|SUSD4_uc010pux.1_Intron NM_017982 NP_060452 Q5VX71 SUSD4_HUMAN Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA. 110 Sushi 1. integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) TATCACTTGGGATCCAGCCTA 0.498000 101 32 0 0 0.00428921 0 0 COL4A4 1286 broad.mit.edu 37 2 227920746 227920746 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:227920746C>T uc021vxr.1 - 28 2732 c.2631G>A c.(2629-2631)cgG>cgA p.R877R COL4A4_uc021vxs.1_Silent_p.R877R NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 877 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GTGCCCCAGGCCGTCCTGGGA 0.622000 26 12 0 0 0.000978159 0 0 SEMA3F 6405 broad.mit.edu 37 3 50214261 50214261 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:50214261G>A uc003cyj.3 + 6 808 c.610G>A c.(610-612)Gat>Aat p.D204N SEMA3F_uc003cyk.3_Missense_Mutation_p.D173N NM_004186 NP_004177 Q13275 SEM3F_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA. 204 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) GTGTCCGTACGATCCCAAGCT 0.607000 36 34 0 0 0.00128727 0 0 SLC38A8 146167 broad.mit.edu 37 16 84050173 84050173 + Silent SNP G A A rs113073498 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:84050173G>A uc002fhg.1 - 7 1113 c.1113C>T c.(1111-1113)atC>atT p.I371I NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA. 371 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 TGATGCTGACGATCTCGCTGA 0.592000 27 15 0 0 0.00074312 0 0 DNAH17 8632 broad.mit.edu 37 17 76457748 76457748 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:76457748G>A uc010dhp.2 - 57 9342 c.9217C>T c.(9217-9219)Ctc>Ttc p.L3073F DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. 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) TTCTGCTTGAGCTCAGCCTCC 0.567000 10 6 0 0 0.00198382 0 0 DNAH10 196385 broad.mit.edu 37 12 124350521 124350521 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:124350521C>T uc001uft.4 + 39 6739 c.6714C>T c.(6712-6714)tcC>tcT p.S2238S NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 2238 AAA 2 (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) AGTATGCCTCCCCTGCAACTG 0.363000 72 27 0 0 0.0024448 0 0 ADCY8 114 broad.mit.edu 37 8 131921957 131921957 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:131921957G>A uc003ytd.4 - 5 1893 c.1637C>T c.(1636-1638)cCt>cTt p.P546L ADCY8_uc010mds.3_Missense_Mutation_p.P546L NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 546 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 p.P546H(2)|p.I545I(1) 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) ATCTTACCCAGGGATTCCTCC 0.453000 HNSCC(32;0.087) 115 48 0 0 0.00361006 0 0 NRG1 3084 broad.mit.edu 37 8 32621496 32621496 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:32621496C>T uc003xiv.2 + 11 2016 c.1499C>T c.(1498-1500)tCc>tTc p.S500F NRG1_uc022ats.1_Missense_Mutation_p.S450F|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.S505F|NRG1_uc003xiw.2_Missense_Mutation_p.S497F|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.S242F|NRG1_uc010lvs.2_Missense_Mutation_p.S242F|NRG1_uc010lvp.2_Missense_Mutation_p.S454F|NRG1_uc010lvq.2_Missense_Mutation_p.S430F|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.S343F|NRG1_uc003xja.2_Missense_Mutation_p.S311F NM_013964 NP_039258 Q02297 NRG1_HUMAN Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA. 500 Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CAGTTCAGCTCCTTCCACCAC 0.557000 24 18 0 0 0.00074312 0 0 SV2A 9900 broad.mit.edu 37 1 149879344 149879344 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:149879344G>A uc001etg.3 - 9 2077 c.1586C>T c.(1585-1587)tCc>tTc p.S529F SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.S529F NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA. 529 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.D528E(1) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) TTCAAACAGGGAATCCTCAAA 0.493000 39 21 0 0 0.00188189 0 0 NPPA 4878 broad.mit.edu 37 1 11907840 11907840 + Splice_Site SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:11907840C>T uc001ati.3 - 1 1 c.-98_splice c.e1-1 NM_006172 NP_006163 P01160 ANF_HUMAN Homo sapiens natriuretic peptide A (NPPA), mRNA. cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size extracellular region hormone activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTCCCTGTCTCCCAGCTGCCC 0.577000 7 4 0 0 0.00024832 0 0 SUSD2 56241 broad.mit.edu 37 22 24579559 24579559 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:24579559C>T uc002zzn.1 + 2 428 c.384C>T c.(382-384)ttC>ttT p.F128F NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN Homo sapiens sushi domain containing 2 (SUSD2), mRNA. 128 immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 GCATCCCCTTCACTGTGTCAC 0.637000 35 18 0 0 0.00074312 0 0 NKAPL 222698 broad.mit.edu 37 6 28227361 28227361 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:28227361C>T uc003nkt.3 + 0 264 c.212C>T c.(211-213)tCg>tTg p.S71L ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN Homo sapiens NFKB activating protein-like (NKAPL), mRNA. 71 breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 CGCTCTGGGTCGCGAGGGCGG 0.607000 59 18 0 0 0.00074312 0 0 LMOD1 25802 broad.mit.edu 37 1 201868835 201868835 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:201868835C>T uc021phl.1 - 1 1554 c.1306G>A c.(1306-1308)Gag>Aag p.E436K LMOD1_uc021phm.1_Missense_Mutation_p.E436K|LMOD1_uc010ppu.2_Missense_Mutation_p.E385K NM_012134 NP_036266 P29536 LMOD1_HUMAN Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA. 436 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 TTGGCGATCTCCATCTCCGTC 0.592000 27 11 0 0 0.000673444 0 0 WDFY3 23001 broad.mit.edu 37 4 85731467 85731467 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:85731467G>A uc003hpd.3 - 13 2326 c.1918C>T c.(1918-1920)Cgt>Tgt p.R640C WDFY3_uc003hpf.3_Missense_Mutation_p.R640C NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 640 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GTTCTTGAACGATGGCTTTCT 0.388000 16 11 0 0 0.000673444 0 0 SCN9A 6335 broad.mit.edu 37 2 167108321 167108321 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:167108321C>T uc010fpl.3 - 17 3734 c.3393G>A c.(3391-3393)gaG>gaA p.E1131E BC051759_uc002udp.3_Non-coding_Transcript NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 1142 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TAGGTTCAGCCTCTGCTTCTT 0.463000 40 14 0 0 0.00244969 0 0 CD177 57126 broad.mit.edu 37 19 43858083 43858083 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:43858083C>T uc002owi.3 + 1 173 c.131C>T c.(130-132)cCt>cTt p.P44L CD177_uc021uvf.1_Missense_Mutation_p.P44L|CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript NM_020406 NP_065139 Q8N6Q3 CD177_HUMAN Homo sapiens CD177 molecule (CD177), mRNA. 44 blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) CAATGGACCCCTAAGAACACC 0.622000 34 24 0 0 0.00332997 0 0 PTPRT 11122 broad.mit.edu 37 20 41306568 41306568 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:41306568C>T uc002xkg.3 - 6 1275 c.1091G>A c.(1090-1092)cGa>cAa p.R364Q PTPRT_uc010ggj.3_Missense_Mutation_p.R364Q NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 364 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CTCACCTGGTCGTGTGAGGAG 0.562000 52 11 0 0 0.000673444 0 0 MUC16 94025 broad.mit.edu 37 19 9075932 9075932 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9075932C>T uc002mkp.3 - 2 11718 c.11514G>A c.(11512-11514)gtG>gtA p.V3838V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3839 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 TGTGTGGGATCACATCCAGAG 0.512000 80 36 0 0 0.00375469 0 0 PYHIN1 149628 broad.mit.edu 37 1 158912139 158912139 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:158912139C>T uc001ftb.3 + 4 1202 c.952C>T c.(952-954)Cac>Tac p.H318Y PYHIN1_uc001ftc.3_Missense_Mutation_p.H309Y|PYHIN1_uc001ftd.3_Missense_Mutation_p.H318Y|PYHIN1_uc001fte.3_Missense_Mutation_p.H309Y NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA. 318 HIN-200. 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) CAATATTCTTCACAAACAAAC 0.358000 34 13 0 0 0.00244969 0 0 OR4X1 390113 broad.mit.edu 37 11 48286288 48286288 + Silent SNP G A A rs140713653 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:48286288G>A uc010rht.2 + 0 876 c.876G>A c.(874-876)gtG>gtA p.V292V NM_001004726 NP_001004726 Q8NH49 OR4X1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA. 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V292V(2) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 ATGCTGAAGTGAAAAATGCCA 0.413000 40 9 0 0 0.000274275 0 0 FAT3 120114 broad.mit.edu 37 11 92533014 92533014 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:92533014G>A uc001pdj.4 + 8 6852 c.6835G>A c.(6835-6837)Gat>Aat p.D2279N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 2279 Cadherin 20. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCTAGTTAATGATGTAAATGA 0.413000 TCGA Ovarian(4;0.039) 244 184 0 0 0.00361006 0 0 MYH2 4620 broad.mit.edu 37 17 10440997 10440997 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10440997G>A uc010coi.3 - 14 1700 c.1572C>T c.(1570-1572)atC>atT p.I524I AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.I524I|MYH2_uc010coj.3_Silent_p.I524I NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 524 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CGATGAGCTCGATGCAGGCAG 0.433000 42 43 0 0 0.00361006 0 0 SLC5A8 160728 broad.mit.edu 37 12 101581190 101581190 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:101581190C>T uc001thz.4 - 6 1327 c.937G>A c.(937-939)Gcc>Acc p.A313T NM_145913 NP_666018 Q8N695 SC5A8_HUMAN Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA. 313 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ACTTTCTTGGCTGTCCAAGGA 0.433000 32 21 0 0 0.00278032 0 0 SHANK3 85358 broad.mit.edu 37 22 51160137 51160137 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:51160137C>T uc003bne.1 + 21 3924 c.3924C>T c.(3922-3924)tcC>tcT p.S1308S SHANK3_uc003bnf.1_Silent_p.S755S NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA. 1308 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) AGCTGTCGTCCAGCGATGAGG 0.672000 10 7 0 0 0.000442599 0 0 ADAM7 8756 broad.mit.edu 37 8 24350052 24350052 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:24350052G>A uc003xeb.3 + 14 1710 c.1597G>A c.(1597-1599)Gga>Aga p.G533R ADAM7_uc003xec.3_Missense_Mutation_p.G305R NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 533 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.G533E(1) NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GAATACAAAAGGAAATAAATT 0.343000 118 29 0 0 0.00375469 0 0 DCLRE1C 64421 broad.mit.edu 37 10 14950820 14950820 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:14950820C>T uc001inn.3 - 13 1751 c.1666G>A c.(1666-1668)Gat>Aat p.D556N DCLRE1C_uc010qbx.2_Intron|DCLRE1C_uc001ink.3_Missense_Mutation_p.D209N|DCLRE1C_uc001inl.3_Missense_Mutation_p.D436N|DCLRE1C_uc001inr.3_Missense_Mutation_p.D441N|DCLRE1C_uc009xji.3_Missense_Mutation_p.D441N|DCLRE1C_uc001inm.3_Missense_Mutation_p.D436N|DCLRE1C_uc001ino.3_Missense_Mutation_p.D441N|DCLRE1C_uc009xjh.3_Non-coding_Transcript|DCLRE1C_uc001inp.3_Missense_Mutation_p.D436N|DCLRE1C_uc001inq.3_Missense_Mutation_p.D436N|DCLRE1C_uc021pni.1_Missense_Mutation_p.D441N NM_001033855 NP_001029027 Q96SD1 DCR1C_HUMAN Homo sapiens DNA cross-link repair 1C (DCLRE1C), transcript variant a, mRNA. 556 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 17 AAAACAGTATCAGATTGGCTG 0.438000 Non-homologous end-joining 66 30 0 0 0.00283554 0 0 GBP3 2635 broad.mit.edu 37 1 89476671 89476671 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:89476671C>T uc001dmt.3 - 7 1483 c.1278G>A c.(1276-1278)tcG>tcA p.S426S GBP3_uc010oss.2_Silent_p.S347S|GBP3_uc001dmu.3_Silent_p.S292S|GBP3_uc001dmv.3_Intron|GBP3_uc021opp.1_Silent_p.S399S NM_018284 NP_060754 Q9H0R5 GBP3_HUMAN Homo sapiens guanylate binding protein 3 (GBP3), mRNA. 426 integral to membrane GTP binding|GTPase activity breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) CCCCTGGTTTCGAATAAATTC 0.413000 262 69 0 0 0.00361006 0 0 KRT27 342574 broad.mit.edu 37 17 38936698 38936698 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:38936698C>T uc002hvg.3 - 2 579 c.538G>A c.(538-540)Gag>Aag p.E180K NM_181537 NP_853515 Q7Z3Y8 K1C27_HUMAN Homo sapiens keratin 27 (KRT27), mRNA. 180 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) AGCGCTAGCTCGTTTTCAAAC 0.453000 19 17 0 0 0.00229938 0 0 LDLR 3949 broad.mit.edu 37 19 11240220 11240220 + Silent SNP C T T rs139647768 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:11240220C>T uc002mqk.4 + 16 2608 c.2421C>T c.(2419-2421)ttC>ttT p.F807F LDLR_uc010xlk.2_Silent_p.F807F|LDLR_uc010xll.2_Silent_p.F766F|LDLR_uc021upc.1_Silent_p.F686F|LDLR_uc010xln.2_Silent_p.F629F|LDLR_uc010xlo.2_Silent_p.F639F|LDLR_uc010xlm.2_Silent_p.F660F|LDLR_uc021upd.1_Silent_p.F544F|LDLR_uc010dxu.3_5'UTR NM_000527 NP_000518 P01130 LDLR_HUMAN Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA. 807 cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.F807F(2) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) TGGGGGTCTTCCTTCTATGGA 0.552000 218 69 0 0 0.00361006 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36207788 36207788 + Silent SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:36207788A>G uc001wtj.3 - 11 1909 c.1518T>C c.(1516-1518)ggT>ggC p.G506G RALGAPA1_uc001wti.3_Silent_p.G506G|RALGAPA1_uc010tpv.2_Silent_p.G506G|RALGAPA1_uc010tpw.1_Silent_p.G506G|RALGAPA1_uc001wtk.1_Silent_p.G357G NM_194301 NP_919277 Q6GYQ0 RGPA1_HUMAN Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA. 506 activation of Ral GTPase activity cytosol|mitochondrion|nucleus Ral GTPase activator activity|protein heterodimerization activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TATGAAGAGCACCTTGGTAGG 0.398000 49 31 0 0 0.000953801 0 0 KCNA1 3736 broad.mit.edu 37 12 5021546 5021546 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:5021546C>T uc001qnh.3 + 1 2107 c.1002C>T c.(1000-1002)ttC>ttT p.F334F KCNA1_uc021qts.1_Silent_p.F334F NM_000217 NP_000208 Q09470 KCNA1_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA. 334 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TTTTCCTCTTCATCGGGGTCA 0.547000 63 21 0 0 0.00121646 0 0 BAI3 577 broad.mit.edu 37 6 70071080 70071080 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:70071080A>T uc010kak.3 + 27 4191 c.3915A>T c.(3913-3915)gaA>gaT p.E1305D BAI3_uc003pev.4_Missense_Mutation_p.E1305D|BAI3_uc011dxx.2_Missense_Mutation_p.E511D NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 1305 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GAATGATGGAAAGTGACTATA 0.388000 21 15 0 0 0.00316338 0 0 SH2D3A 10045 broad.mit.edu 37 19 6760879 6760879 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:6760879G>A uc002mft.3 - 2 383 c.189C>T c.(187-189)ttC>ttT p.F63F SH2D3A_uc010xjg.2_Intron NM_005490 NP_005481 Q9BRG2 SH23A_HUMAN Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA. 63 SH2. JNK cascade|small GTPase mediated signal transduction intracellular SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 GGGCCACACGGAACACCTCAA 0.622000 30 13 0 0 0.00185496 0 0 CD163L1 283316 broad.mit.edu 37 12 7550860 7550860 + Splice_Site SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:7550860C>T uc010sge.2 - 7 1785 c.1759_splice c.e7+1 p.G587_splice CD163L1_uc001qsy.3_Splice_Site_p.G577_splice NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 577 SRCR 6. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CAAGTCTTACCTGAGCAGGTT 0.393000 32 15 0 0 0.00316338 0 0 CECR2 27443 broad.mit.edu 37 22 18028630 18028630 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:18028630C>T uc010gqw.1 + 15 3581 c.3581C>T c.(3580-3582)cCc>cTc p.P1194L CECR2_uc010gqv.1_Missense_Mutation_p.P1054L|CECR2_uc002zml.2_Missense_Mutation_p.P1055L|CECR2_uc002zmo.2_Non-coding_Transcript NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA. 1238 DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) CCTCTCCATCCCCAGGGAAGC 0.582000 27 11 0 0 0.000673444 0 0 CLSTN2 64084 broad.mit.edu 37 3 140178397 140178397 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:140178397C>T uc003etn.3 + 6 1198 c.1008C>T c.(1006-1008)tcC>tcT p.S336S CLSTN2_uc003etm.2_Silent_p.S336S NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN Homo sapiens calsyntenin 2 (CLSTN2), mRNA. 336 homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 TCTTGCCATCCCCTAGCGCTG 0.557000 HNSCC(16;0.037) 51 19 0 0 0.00152264 0 0 MEF2B 100271849 broad.mit.edu 37 19 19257591 19257591 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:19257591G>A uc002nlp.2 - 7 1362 c.635C>T c.(634-636)cCt>cTt p.P212L MEF2B_uc002nll.2_Missense_Mutation_p.P212L|MEF2B_uc010xqo.1_Missense_Mutation_p.P212L|MEF2B_uc010xqp.1_Missense_Mutation_p.P212L|MEF2B_uc002nlo.2_Missense_Mutation_p.P212L|MEF2B_uc002nlk.2_Missense_Mutation_p.P215L NM_005919 NP_005910 Homo sapiens MEF2BNB-MEF2B readthrough (MEF2BNB-MEF2B), transcript variant 1, mRNA. breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412) CAGGCCACCAGGCAGGTCTGA 0.677000 26 7 0 0 0.00307968 0 0 OR14C36 127066 broad.mit.edu 37 1 248512475 248512475 + Silent SNP C T T rs150366522 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:248512475C>T uc010pzl.2 + 0 399 c.399C>T c.(397-399)atC>atT p.I133I NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA. 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 ACCCTGTGATCGTGAACTCTC 0.507000 35 19 0 0 0.00229938 0 0 CR1 1378 broad.mit.edu 37 1 207758215 207758215 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:207758215C>T uc001hfy.3 + 24 4314 c.4174C>T c.(4174-4176)Cgt>Tgt p.R1392C CR1_uc009xcl.1_Missense_Mutation_p.R942C|CR1_uc001hfx.3_Missense_Mutation_p.R1842C|CR1_uc021pij.1_Missense_Mutation_p.R1392C NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 1392 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 ACTTTCTGTTCGTGCTGGTCA 0.488000 61 32 0 0 0.0024448 0 0 FAM190A 401145 broad.mit.edu 37 4 91229803 91229803 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:91229803G>A uc003hsv.4 + 1 708 c.368G>A c.(367-369)cGa>cAa p.R123Q FAM190A_uc003hsu.3_Missense_Mutation_p.R123Q|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.R123Q NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA. 123 NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 AGTAGTTCACGAAATAAGAAG 0.363000 24 24 0 0 0.00332997 0 0 PSG2 5670 broad.mit.edu 37 19 43579626 43579626 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:43579626C>T uc002ovr.3 - 2 761 c.589G>A c.(589-591)Gaa>Aaa p.E197K PSG4_uc010xwk.1_Intron NM_031246 NP_112536 P11465 PSG2_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA. 197 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) CTGTTGGTTTCGGACAGCTGA 0.498000 196 89 0 0 0.00361006 0 0 CEP250 11190 broad.mit.edu 37 20 34095953 34095954 + Missense_Mutation DNP CC TT TT rs148942784 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:34095953_34095954CC>TT uc021wco.1 + 31 7487_7488 c.6840_6841CC>TT c.(6838-6843)gcccgg>gcTTgg p.R2281W CEP250_uc010zve.2_Missense_Mutation_p.R1649W NM_007186 NP_009117 Q9BV73 CP250_HUMAN Homo sapiens centrosomal protein 250kDa (CEP250), mRNA. 2281 G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) AAGCAGTGGCCCGGCTGGAGAT 0.579000 87 35 0 0 6.4e-05 0 0 RNASET2 8635 broad.mit.edu 37 6 167343100 167343100 + Silent SNP G A A rs76894173 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:167343100G>A uc003qve.3 - 8 1154 c.747C>T c.(745-747)ccC>ccT p.P249P RNASET2_uc003qvf.3_Silent_p.P157P NM_003730 NP_003721 O00584 RNT2_HUMAN Homo sapiens ribonuclease T2 (RNASET2), mRNA. 249 RNA catabolic process extracellular region RNA binding|ribonuclease T2 activity large_intestine(4)|lung(4) 8 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665) TTTTAGGTGGGGGATAGAAGA 0.502000 234 100 0 0 0.00361006 0 0 FANCC 2176 broad.mit.edu 37 9 97873870 97873870 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:97873870C>T uc022bkl.1 - 12 1408 c.1204G>A c.(1204-1206)Gga>Aga p.G402R FANCC_uc004avh.3_Missense_Mutation_p.G402R|FANCC_uc004avi.4_Missense_Mutation_p.G402R NM_001243743 NP_001230672 Q00597 FANCC_HUMAN Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 2, mRNA. 402 protein complex assembly cytosol|nucleoplasm protein binding kidney(1)|skin(1)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(62;0.138) TCAGCCCATCCTCCGAAGTGA 0.567000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 77 27 0 0 0.00209593 0 0 CRYGC 1420 broad.mit.edu 37 2 208993004 208993004 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:208993004C>T uc002vco.4 - 2 486 c.448G>A c.(448-450)Gag>Aag p.E150K LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron NM_020989 NP_066269 P07315 CRGC_HUMAN Homo sapiens crystallin, gamma C (CRYGC), mRNA. 150 Beta/gamma crystallin 'Greek key' 4. visual perception cytoplasm|nucleus protein binding|structural constituent of eye lens NS(1)|endometrium(1)|large_intestine(2)|lung(5) 9 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) CGCCTGTACTCTTGGGGCCTC 0.582000 56 29 0 0 0.001512 0 0 FOXB1 27023 broad.mit.edu 37 15 60297304 60297305 + Missense_Mutation DNP CC TA TA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:60297304_60297305CC>TA uc002agj.1 + 1 621_622 c.142_143CC>TA c.(142-144)ccc>TAc p.P48Y FOXB1_uc010bgh.1_Intron|FOXB1_uc021sna.1_Missense_Mutation_p.P48Y NM_012182 NP_036314 Q99853 FOXB1_HUMAN Homo sapiens forkhead box B1 (FOXB1), mRNA. 48 axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|kidney(1)|lung(3)|ovary(1) 6 GGACCGCTTCCCCTACTACAGG 0.594000 29 22 0 0 6.4e-05 0 0 ZNF679 168417 broad.mit.edu 37 7 63726909 63726909 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:63726909G>A uc003tsx.3 + 4 1167 c.898G>A c.(898-900)Gaa>Aaa p.E300K NM_153363 NP_699194 Q8IYX0 ZN679_HUMAN Homo sapiens zinc finger protein 679 (ZNF679), mRNA. 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 CACATGTGAAGAATGTGGCAA 0.443000 30 13 0 0 0.00316338 0 0 OTUD7A 161725 broad.mit.edu 37 15 31795993 31795993 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:31795993C>T uc001zfq.3 - 6 994 c.901G>A c.(901-903)Gag>Aag p.E301K OTUD7A_uc001zfr.3_Missense_Mutation_p.E308K NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN Homo sapiens OTU domain containing 7A (OTUD7A), mRNA. 301 Catalytic (By similarity).|OTU.|TRAF-binding (By similarity). cytoplasm|nucleus DNA binding|cysteine-type peptidase activity|zinc ion binding p.E301K(2) endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) TCCAGGCTCTCGTACACGGGG 0.493000 14 28 0 0 0.00106085 0 0 HTR4 3360 broad.mit.edu 37 5 147928410 147928410 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:147928410G>A uc021yfj.1 - 2 221 c.174C>T c.(172-174)ttC>ttT p.F58F HTR4_uc021yfg.1_Silent_p.F58F|HTR4_uc021yfh.1_Silent_p.F58F|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Silent_p.F58F|HTR4_uc011dby.1_Silent_p.F58F|HTR4_uc003lpn.3_Silent_p.F58F|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Silent_p.F58F NM_001040173 NP_001035263 Q13639 5HT4R_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA. 58 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) GAGATACAATGAAATAATTTG 0.453000 18 6 0 0 0.00198382 0 0 RFX6 222546 broad.mit.edu 37 6 117246660 117246660 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:117246660C>T uc003pxm.3 + 15 1786 c.1723C>T c.(1723-1725)Ctg>Ttg p.L575L NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 575 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TTCATGCTTTCTGGCCAACCG 0.458000 112 62 0 0 0.00361006 0 0 DBX2 440097 broad.mit.edu 37 12 45417608 45417608 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:45417608C>T uc001rok.1 - 2 741 c.569G>A c.(568-570)aGa>aAa p.R190K NM_001004329 NP_001004329 Q6ZNG2 DBX2_HUMAN Homo sapiens developing brain homeobox 2 (DBX2), mRNA. 190 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) AAAGACAGCTCTTCTTAAAAT 0.443000 74 37 0 0 0.00428921 0 0 MYH1 4619 broad.mit.edu 37 17 10417143 10417143 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10417143G>A uc002gmo.3 - 7 830 c.736C>T c.(736-738)Cgc>Tgc p.R246C AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 246 Myosin head-like. muscle myosin complex|myofibril|myosin filament ATP binding|actin 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 CTTACAAAGCGAGAGGAGTTG 0.498000 20 19 0 0 0.00278032 0 0 POLE 5426 broad.mit.edu 37 12 133236048 133236048 + Missense_Mutation SNP G C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:133236048G>C uc001uks.1 - 25 3152 c.3108C>G c.(3106-3108)aaC>aaG p.N1036K POLE_uc001ukr.1_5'Flank|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.N1009K NM_006231 NP_006222 Q07864 DPOE1_HUMAN Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA. 1036 DNA synthesis involved in DNA repair|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|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) ACATGGAACGGTTCTCAGAGA 0.527000 DNA polymerases (catalytic subunits) 40 11 0 0 0.00136819 0 0 TM9SF2 9375 broad.mit.edu 37 13 100207847 100207847 + Silent SNP T G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:100207847T>G uc001voj.1 + 14 1831 c.1698T>G c.(1696-1698)gtT>gtG p.V566V TM9SF2_uc010afz.1_Silent_p.V401V NM_004800 NP_004791 Q99805 TM9S2_HUMAN Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA. 566 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) TCATTTTGGTTATTACCTGTT 0.328000 50 16 0 0 0.000566183 0 0 GPC6 10082 broad.mit.edu 37 13 93879808 93879809 + Missense_Mutation DNP CC AT AT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:93879808_93879809CC>AT uc001vlt.3 + 0 731_732 c.99_100CC>AT c.(97-102)gtccgc>gtATgc p.R34C GPC6_uc010tig.1_Missense_Mutation_p.R34C NM_005708 NP_005699 Q9Y625 GPC6_HUMAN Homo sapiens glypican 6 (GPC6), mRNA. 34 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.R34R(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GCGGAGAGGTCCGCCAGGCGTA 0.683000 OREG0022460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 9 0 0 6.4e-05 0 0 AMPD3 272 broad.mit.edu 37 11 10516551 10516551 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:10516551G>A uc001min.1 + 7 1612 c.1267G>A c.(1267-1269)Gga>Aga p.G423R AMPD3_uc010rbz.1_Missense_Mutation_p.G255R|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.G414R|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.G421R|AMPD3_uc009yfy.2_Missense_Mutation_p.G414R NM_000480 NP_001165902 Q01432 AMPD3_HUMAN Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA. 414 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) CTATCTGGGAGGAGAGTACTT 0.532000 101 35 0 0 0.00170553 0 0 SLC17A3 10786 broad.mit.edu 37 6 25862543 25862543 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:25862543G>A uc003nfk.4 - 2 331 c.221C>T c.(220-222)tCc>tTc p.S74F SLC17A3_uc003nfi.4_Missense_Mutation_p.S74F|SLC17A3_uc011djz.1_Missense_Mutation_p.S74F|SLC17A3_uc011dka.1_Missense_Mutation_p.S74F NM_001098486 NP_001091956 O00476 NPT4_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA. 74 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 ATTGAGCTGGGATTGAGGGCT 0.448000 76 21 0 0 0.00152264 0 0 GLT1D1 144423 broad.mit.edu 37 12 129442178 129442178 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:129442178C>T uc010tbh.1 + 11 893 c.884C>T c.(883-885)tCc>tTc p.S295F GLT1D1_uc001uhx.1_Missense_Mutation_p.S210F|GLT1D1_uc001uhy.1_Non-coding_Transcript NM_144669 NP_653270 Q96MS3 GL1D1_HUMAN Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA. 290 biosynthetic process extracellular region transferase activity, transferring glycosyl groups breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) CTACTGTTTTCCAATCCTCAG 0.448000 20 7 0 0 0.00307968 0 0 OR6C75 390323 broad.mit.edu 37 12 55759585 55759585 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:55759585C>T uc010spk.2 + 0 691 c.691C>T c.(691-693)Caa>Taa p.Q231* NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA. 231 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 TTCTATGAGTCAAAGGAAAAA 0.383000 47 23 0 0 0.00278032 0 0 FCRL5 83416 broad.mit.edu 37 1 157485454 157485454 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:157485454G>A uc009wsm.3 - 16 3093 c.2935C>T c.(2935-2937)Ctc>Ttc p.L979F FCRL5_uc001fqu.3_3'UTR NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 0 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) CAGTTGGAGAGACGTGTGGAC 0.537000 118 51 0 0 0.00361006 0 0 DACH2 117154 broad.mit.edu 37 X 86069749 86069749 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:86069749C>T uc004eew.2 + 9 1766 c.1596C>T c.(1594-1596)gcC>gcT p.A532A DACH2_uc004eex.2_Silent_p.A519A|DACH2_uc010nmq.2_Silent_p.A398A|DACH2_uc011mra.1_Silent_p.A365A|DACH2_uc010nmr.2_Silent_p.A313A|DACH2_uc004eey.3_Silent_p.A225A|DACH2_uc004eez.3_Silent_p.A215A NM_053281 NP_001132987 Q96NX9 DACH2_HUMAN Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA. 532 DACHbox-C. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 TGCAGGAAGCCTTGGAATTTG 0.433000 18 23 0 0 0.00188189 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62887203 62887203 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:62887203G>A uc003peg.2 - 1 353 c.106C>T c.(106-108)Caa>Taa p.Q36* NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA. 36 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) TCAGAACCTTGAAACTTTTCA 0.303000 12 10 0 0 0.000442599 0 0 ROCK1 6093 broad.mit.edu 37 18 18539836 18539836 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:18539836C>T uc002kte.3 - 28 4418 c.3477G>A c.(3475-3477)aaG>aaA p.K1159K NM_005406 NP_005397 Q13464 ROCK1_HUMAN Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA. 1159 Auto-inhibitory.|PH. Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking Golgi membrane|centriole|cytosol ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TGGATTGCTCCTTATCTTGTT 0.328000 32 9 0 0 0.000673444 0 0 GRN 2896 broad.mit.edu 37 17 42429912 42429912 + Silent SNP G A A rs34100802 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:42429912G>A uc002igp.1 + 11 1836 c.1617G>A c.(1615-1617)caG>caA p.Q539Q NM_002087 NP_002078 P28799 GRN_HUMAN Homo sapiens granulin (GRN), mRNA. 539 signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) ACAACCGACAGGGCTGGGCCT 0.652000 35 42 0 0 0.00148497 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202915711 202915711 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:202915711G>A uc001gyq.4 - 3 553 c.286C>T c.(286-288)Cca>Tca p.P96S ADIPOR1_uc010pqd.2_Missense_Mutation_p.P20S|ADIPOR1_uc001gyr.4_5'UTR|ADIPOR1_uc001gys.4_Missense_Mutation_p.P96S NM_015999 NP_057083 Q96A54 ADR1_HUMAN Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA. 96 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) ACATCATATGGGATGACCCTC 0.507000 57 13 0 0 0.00244969 0 0 HDAC9 9734 broad.mit.edu 37 7 18767315 18767315 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:18767315C>T uc003sui.3 + 11 1885 c.1844C>T c.(1843-1845)tCc>tTc p.S615F HDAC9_uc003sue.3_Missense_Mutation_p.S612F|HDAC9_uc011jyd.2_Missense_Mutation_p.S612F|HDAC9_uc003suh.3_Missense_Mutation_p.S612F|HDAC9_uc003suj.3_Missense_Mutation_p.S571F|HDAC9_uc003sua.1_Missense_Mutation_p.S590F|HDAC9_uc010kue.1_Missense_Mutation_p.S267F NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA. 612 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 NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|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) ACTCACTCTTCCCCTGCTGCC 0.587000 11 6 0 0 0.00116845 0 0 SGPL1 8879 broad.mit.edu 37 10 72633179 72633179 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:72633179C>T uc001jrm.3 + 11 1353 c.1131C>T c.(1129-1131)ttC>ttT p.F377F SGPL1_uc009xqk.3_Non-coding_Transcript NM_003901 NP_003892 O95470 SGPL1_HUMAN Homo sapiens sphingosine-1-phosphate lyase 1 (SGPL1), mRNA. 377 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity large_intestine(4) 4 Pyridoxal Phosphate(DB00114) ATCAGTTCTTCGTCGATACAG 0.502000 47 38 0 0 0.00222228 0 0 TRPM6 140803 broad.mit.edu 37 9 77339583 77339584 + Missense_Mutation DNP CT TA TA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:77339583_77339584CT>TA uc004ajl.1 - 38 6252_6253 c.6014_6015AG>TA c.(6013-6015)gag>gTA p.E2005V TRPM6_uc004ajk.1_Missense_Mutation_p.E2000V|TRPM6_uc022bib.1_Missense_Mutation_p.E2000V|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.E956V|TRPM6_uc010mpd.1_Missense_Mutation_p.E838V|TRPM6_uc010mpe.1_Missense_Mutation_p.E552V|TRPM6_uc004ajj.1_Missense_Mutation_p.E961V NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 2005 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 TTGCTGGAGGCTCCTCAGCTGA 0.436000 63 51 0 0 6.4e-05 0 0 OR52E8 390079 broad.mit.edu 37 11 5878020 5878020 + Nonsense_Mutation SNP G A A rs142656457 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:5878020G>A uc010qzr.2 - 0 913 c.913C>T c.(913-915)Cga>Tga p.R305* TRIM5_uc001mbq.1_Intron NM_001005168 NP_001005168 Q6IFG1 O52E8_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA. 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R305*(2) endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTCTCTCTCGAATCTGCTTT 0.418000 98 46 0 0 0.00361006 0 0 NLRC5 84166 broad.mit.edu 37 16 57054867 57054867 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:57054867G>A uc021tiu.1 + 1 370 c.243G>A c.(241-243)gaG>gaA p.E81E NLRC5_uc021tit.1_Silent_p.E81E|NLRC5_uc010ccq.1_Non-coding_Transcript NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 81 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TGCAGCTGGAGGTGCCTCTGG 0.552000 19 8 0 0 0.000274275 0 0 PET112 5188 broad.mit.edu 37 4 152637244 152637244 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:152637244G>A uc003iml.3 - 4 721 c.680C>T c.(679-681)tCc>tTc p.S227F PET112_uc003imm.4_Missense_Mutation_p.S227F NM_004564 NP_004555 O75879 GATB_HUMAN Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA. 227 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTCTCCACAGGACATGTCGGG 0.577000 21 8 0 0 0.000442599 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G A A rs112083427 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:170871052G>A uc003qxu.3 + 2 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_uc011ehf.2_Silent_p.Q56Q|TBP_uc003qxt.3_Silent_p.Q76Q|TBP_uc011ehg.1_Silent_p.Q76Q NM_003194 NP_001165556 P20226 TBP_HUMAN Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA. 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(8)|p.Q75Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 25 6 0 0 0.00116845 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90573247 90573247 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:90573247C>T uc003pnr.3 + 6 2015 c.1819C>T c.(1819-1821)Ccc>Tcc p.P607S CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.P607S|CASP8AP2_uc011dzz.2_Missense_Mutation_p.P607S NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA. 607 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) GGCATATGTTCCCTCCATAAG 0.423000 11 6 0 0 0.00307968 0 0 LRP1B 53353 broad.mit.edu 37 2 141108456 141108456 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:141108456C>T uc002tvj.1 - 76 12774 c.11802G>A c.(11800-11802)atG>atA p.M3934I NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 3934 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.D3933Y(1) 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) TCCAAATAATCATATCTCTTT 0.333000 TSP Lung(27;0.18) 66 32 0 0 0.0024448 0 0 PRRT3 285368 broad.mit.edu 37 3 9991216 9991216 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:9991216C>T uc003bul.2 - 1 714 c.584G>A c.(583-585)aGg>aAg p.R195K CIDEC_uc003bto.3_Intron|PRRT3_uc003buk.2_Non-coding_Transcript|PRRT3_uc003bum.3_Missense_Mutation_p.R195K NM_207351 NP_997234 Q5FWE3 PRRT3_HUMAN Homo sapiens proline-rich transmembrane protein 3 (PRRT3), mRNA. 195 integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 GGGTGGGACCCTGCTCTTAGT 0.597000 18 14 0 0 0.00316338 0 0 ZNF12 7559 broad.mit.edu 37 7 6730531 6730531 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:6730531C>T uc003sqt.1 - 4 2596 c.2042G>A c.(2041-2043)aGa>aAa p.R681K ZNF12_uc011jxa.1_Missense_Mutation_p.R519K|ZNF12_uc003sqs.1_Missense_Mutation_p.R643K NM_016265 NP_057349 P17014 ZNF12_HUMAN Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA. 681 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) CCTATGAATTCTCTGATGGCT 0.378000 36 8 0 0 0.00307968 0 0 FOXF2 2295 broad.mit.edu 37 6 1390486 1390486 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:1390486C>T uc003mtm.3 + 0 418 c.304C>T c.(304-306)Ccc>Tcc p.P102S NM_001452 NP_001443 Q12947 FOXF2_HUMAN Homo sapiens forkhead box F2 (FOXF2), mRNA. 102 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding large_intestine(2)|lung(5)|prostate(1) 8 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) CGAGAAGCCGCCCTACTCGTA 0.731000 14 14 0 0 0.00400662 0 0 GBF1 8729 broad.mit.edu 37 10 104126904 104126904 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:104126904C>T uc001kux.2 + 19 2787 c.2493C>T c.(2491-2493)atC>atT p.I831I GBF1_uc001kuy.2_Silent_p.I831I|GBF1_uc001kuz.2_Silent_p.I832I NM_004193 NP_004184 Q92538 GBF1_HUMAN Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA. 831 SEC7. COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) ATGCTGTCATCATGCTTAATA 0.493000 47 46 0 0 0.00361006 0 0 RPTN 126638 broad.mit.edu 37 1 152127456 152127456 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:152127456C>T uc001ezs.1 - 2 2184 c.2119G>A c.(2119-2121)Gaa>Aaa p.E707K NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN Homo sapiens repetin (RPTN), mRNA. 707 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CCCTGCTCTTCCTCTGCCCAG 0.562000 117 54 0 0 0.00361006 0 0 OR2A1 346528 broad.mit.edu 37 7 143929689 143929689 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:143929689T>C uc011kub.2 - 0 248 c.248A>G c.(247-249)aAc>aGc p.N83S NM_001005287 NP_001005287 Q8NGT9 OR2A1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA. 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(3)|skin(2) 6 Melanoma(164;0.14) ATGCAGGAGGTTCGCCAGCAT 0.572000 27 18 0 0 0.00121646 0 0 MGAM 8972 broad.mit.edu 37 7 141722180 141722180 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:141722180C>T uc003vwy.3 + 6 877 c.823C>T c.(823-825)Cgg>Tgg p.R275W NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 275 Maltase. 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) CCAGCAGTATCGGCATGATAT 0.493000 75 38 0 0 0.0025221 0 0 NOS3 4846 broad.mit.edu 37 7 150695477 150695477 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:150695477G>A uc003wif.3 + 5 911 c.615G>A c.(613-615)caG>caA p.Q205Q NOS3_uc011kuy.2_5'UTR|NOS3_uc011kva.2_Silent_p.Q205Q|NOS3_uc011kuz.2_Silent_p.Q205Q|NOS3_uc011kvb.2_Silent_p.Q205Q NM_000603 NP_000594 P29474 NOS3_HUMAN Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA. 205 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia Golgi membrane|caveola|cytoskeleton|cytosol FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GGTCTGCACAGGAAATGTTCA 0.617000 24 9 0 0 0.000673444 0 0 LMBRD1 55788 broad.mit.edu 37 6 70408946 70408946 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:70408946A>G uc003pfa.3 - 12 1603 c.1327T>C c.(1327-1329)Tac>Cac p.Y443H LMBRD1_uc003pez.3_Missense_Mutation_p.Y370H|LMBRD1_uc010kal.3_Missense_Mutation_p.Y370H|LMBRD1_uc003pfb.3_Non-coding_Transcript NM_018368 NP_060838 Q9NUN5 LMBD1_HUMAN Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA. 443 interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding p.Y443*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 TCTATTAAGTAATTTTGGCTT 0.289000 43 15 0 0 0.00074312 0 0 BMP10 27302 broad.mit.edu 37 2 69093461 69093461 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:69093461C>T uc002sez.1 - 1 736 c.577G>A c.(577-579)Gga>Aga p.G193R NM_014482 NP_055297 O95393 BMP10_HUMAN Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA. 193 BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis Z disc|cell surface|extracellular space cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 CTGTTGGTTCCATATATCTCC 0.483000 37 11 0 0 0.000978159 0 0 ASXL3 80816 broad.mit.edu 37 18 31318725 31318725 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:31318725G>A uc010dmg.1 + 10 1412 c.1357G>A c.(1357-1359)Gaa>Aaa p.E453K ASXL3_uc002kxq.2_Missense_Mutation_p.E160K NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 453 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 AATTCAGGAGGAAATTGCAGA 0.393000 62 14 0 0 0.000566183 0 0 BCLAF1 9774 broad.mit.edu 37 6 136590638 136590638 + Missense_Mutation SNP C T T rs147964608 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:136590638C>T uc003qgx.1 - 8 2409 c.2156G>A c.(2155-2157)gGa>gAa p.G719E BCLAF1_uc011edb.1_5'Flank|BCLAF1_uc003qgy.1_Missense_Mutation_p.G717E|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.G717E|BCLAF1_uc003qgw.1_Missense_Mutation_p.G546E NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 719 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CTTTCTTGATCCACTGGATTC 0.408000 97 7 0 0 0.00307968 0 0 OR13C3 138803 broad.mit.edu 37 9 107299020 107299020 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:107299020G>A uc004bcb.1 - 0 75 c.75C>T c.(73-75)ttC>ttT p.F25F NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA. 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 CTGCTTTCAGGAAATCAAAAG 0.348000 35 14 0 0 0.00244969 0 0 PRF1 5551 broad.mit.edu 37 10 72358237 72358237 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:72358237G>A uc009xqg.3 - 2 1401 c.1240C>T c.(1240-1242)Ctg>Ttg p.L414L PRF1_uc001jrf.4_Silent_p.L414L NM_001083116 NP_005032 P14222 PERF_HUMAN Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA. 414 apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 AGCTGGGCCAGGCCCCTCTGC 0.652000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 2 8 0 0 0.000274275 0 0 AACS 65985 broad.mit.edu 37 12 125609554 125609554 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:125609554C>T uc001uhc.3 + 11 1499 c.1293C>T c.(1291-1293)ctC>ctT p.L431L AACS_uc001uhd.3_Silent_p.L431L|AACS_uc009zyh.3_Intron|AACS_uc009zyi.3_Silent_p.L29L NM_023928 NP_076417 Q86V21 AACS_HUMAN Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA. 431 fatty acid metabolic process cytosol ATP binding|acetoacetate-CoA ligase activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) GCAGCATCCTCCTGGGCTCCA 0.592000 67 22 0 0 0.00332997 0 0 MARCH3 115123 broad.mit.edu 37 5 126206432 126206432 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:126206432G>A uc003kuf.3 - 4 1110 c.655C>T c.(655-657)Cag>Tag p.Q219* NM_178450 NP_848545 Q86UD3 MARH3_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 3 (MARCH3), mRNA. 219 endocytosis cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome ligase activity|zinc ion binding large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793) ATCACCCTCTGATTGGTCCGA 0.488000 28 20 0 0 0.00278032 0 0 SIK3 23387 broad.mit.edu 37 11 116728595 116728595 + Nonsense_Mutation SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:116728595C>A uc001ppy.3 - 19 3304 c.3268G>T c.(3268-3270)Gaa>Taa p.E1090* SIK3_uc001ppz.3_Nonsense_Mutation_p.E929*|SIK3_uc001pqa.3_Nonsense_Mutation_p.E1030*|SIK3_uc001ppw.3_Nonsense_Mutation_p.E447*|SIK3_uc001ppx.3_Nonsense_Mutation_p.E468*|SIK3_uc001pqb.3_Nonsense_Mutation_p.E393* NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN Homo sapiens SIK family kinase 3 (SIK3), mRNA. 1090 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 ATCCCCAATTCTTGGGCATGA 0.507000 142 121 3.16226e-57 1.00106e-56 0.00361006 1 0 ALK 238 broad.mit.edu 37 2 29462669 29462669 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:29462669C>T uc002rmy.3 - 12 3184 c.2232G>A c.(2230-2232)ggG>ggA p.G744G NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 744 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TCCCGCCTTTCCCGCCAGCAG 0.592000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 28 10 0 0 0.000978159 0 0 NPAS1 4861 broad.mit.edu 37 19 47535945 47535945 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:47535945C>T uc002pfw.3 + 4 673 c.477C>T c.(475-477)ttC>ttT p.F159F NPAS1_uc002pfy.3_Silent_p.F159F|NPAS1_uc010xyj.2_5'Flank NM_002517 NP_002508 Q99742 NPAS1_HUMAN Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA. 159 PAS 1. central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) AAGGAAAATTCCTCTACATCT 0.577000 OREG0025585 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 22 0 0 0.00278032 0 0 FAM71C 196472 broad.mit.edu 37 12 100042121 100042121 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:100042121G>A uc001tgn.3 + 0 594 c.169G>A c.(169-171)Gga>Aga p.G57R ANKS1B_uc001tge.2_Intron|ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Intron NM_153364 NP_699195 Q8NEG0 FA71C_HUMAN Homo sapiens family with sequence similarity 71, member C (FAM71C), mRNA. 57 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) CAGCAAAAGAGGAGAAGTGAT 0.527000 54 22 0 0 0.000720815 0 0 TTN 7273 broad.mit.edu 37 2 179589234 179589234 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179589234C>T uc021vsy.1 - 68 17361 c.17136G>A c.(17134-17136)ccG>ccA p.P5712P TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.P2373P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6639 Ig-like 38. 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) TCACCGTCATCGGTCCTGCCT 0.478000 29 9 0 0 0.000442599 0 0 MSLN 10232 broad.mit.edu 37 16 813661 813661 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:813661G>A uc002cjw.2 + 3 260 c.149G>A c.(148-150)gGa>gAa p.G50E MSLN_uc002cju.1_Missense_Mutation_p.G50E|MSLN_uc002cjt.1_Missense_Mutation_p.G50E|MSLN_uc010brd.1_Missense_Mutation_p.G49E|MSLN_uc002cjy.1_5'Flank NM_013404 NP_037536 Q13421 MSLN_HUMAN Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA. 50 cell adhesion Golgi apparatus|anchored to membrane|extracellular region|plasma membrane p.G50R(1) breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) CCCCTGGACGGAGTCCTGGCC 0.667000 12 4 0 0 0.00116845 0 0 PCDH17 27253 broad.mit.edu 37 13 58207409 58207409 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:58207409C>T uc001vhq.1 + 0 1621 c.729C>T c.(727-729)ttC>ttT p.F243F PCDH17_uc010aec.1_Silent_p.F243F NM_001040429 NP_001035519 O14917 PCD17_HUMAN Homo sapiens protocadherin 17 (PCDH17), mRNA. 243 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GCCCGGTCTTCGAGGCGCCAT 0.612000 61 20 0 0 0.000958276 0 0 ODF2 4957 broad.mit.edu 37 9 131260759 131260759 + Missense_Mutation SNP A C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:131260759A>C uc004bvc.3 + 18 2358 c.2272A>C c.(2272-2274)Atc>Ctc p.I758L ODF2_uc004bvb.3_Missense_Mutation_p.I670L|ODF2_uc011mbd.2_Missense_Mutation_p.I694L|ODF2_uc011mbe.2_Missense_Mutation_p.I689L|ODF2_uc004bvd.4_Missense_Mutation_p.I694L|ODF2_uc004bvh.3_Missense_Mutation_p.I100L NM_153435 NP_702913 Q5BJF6 ODFP2_HUMAN Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA. 694 G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 GGAGGAGGCAATCCACCAGTC 0.562000 62 20 0 0 0.00395357 0 0 abParts 0 broad.mit.edu 37 14 106744117 106744117 + Splice_Site SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:106744117C>T uc021ser.1 - 810 c.20381_splice c.e810+1 LINC00226_uc021seu.1_5'Flank Parts of antibodies, mostly variable regions. CACTGATGATCCCATAGCTGT 0.502000 16 4 0 0 0.000602214 0 0 HSD17B2 3294 broad.mit.edu 37 16 82101929 82101929 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:82101929G>A uc002fgv.3 + 1 592 c.420G>A c.(418-420)acG>acA p.T140T NM_002153 NP_002144 P37059 DHB2_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA. 140 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) TGGACATCACGAAGCCAGTGC 0.537000 18 4 0 0 0.00024832 0 0 CD86 942 broad.mit.edu 37 3 121828152 121828152 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:121828152G>A uc003eet.3 + 4 872 c.744G>A c.(742-744)tgG>tgA p.W248* CD86_uc011bjo.2_Nonsense_Mutation_p.W166*|CD86_uc011bjp.2_Nonsense_Mutation_p.W136*|CD86_uc003eeu.3_Nonsense_Mutation_p.W242*|CD86_uc021xcz.1_Intron NM_175862 NP_008820 P42081 CD86_HUMAN Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA. 248 T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) ACATTCCTTGGATTACAGCTG 0.413000 64 28 0 0 0.000878237 0 0 COX10 1352 broad.mit.edu 37 17 14110257 14110257 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:14110257C>T uc002gof.4 + 6 1263 c.1059C>T c.(1057-1059)tgC>tgT p.C353C COX10_uc010vvs.2_Silent_p.C136C|COX10_uc010vvt.2_Silent_p.C161C NM_001303 NP_001294 Q12887 COX10_HUMAN Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA. 353 heme O biosynthetic process|heme a biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) CGGGCCTGTGCCGGCGCGTGG 0.667000 16 18 0 0 0.00152264 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509196 106509196 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:106509196G>A uc003vdv.4 + 1 1275 c.1190G>A c.(1189-1191)aGg>aAg p.R397K PIK3CG_uc003vdu.3_Missense_Mutation_p.R397K|PIK3CG_uc003vdw.3_Missense_Mutation_p.R397K NM_002649 NP_002640 P48736 PK3CG_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA. 397 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CTTTGCCAAAGGAGAACCAGC 0.502000 43 12 0 0 0.00316338 0 0 CES5A 221223 broad.mit.edu 37 16 55886868 55886868 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:55886868G>A uc021tir.1 - 10 1431 c.1285C>T c.(1285-1287)Cga>Tga p.R429* CES5A_uc002eip.2_Nonsense_Mutation_p.R400*|CES5A_uc002eio.2_Nonsense_Mutation_p.R400*|CES5A_uc002eiq.2_Nonsense_Mutation_p.R161*|CES5A_uc002eir.2_Nonsense_Mutation_p.R294* NM_001190158 NP_001177087 Q6NT32 EST5A_HUMAN Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA. 400 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity p.T428M(1) breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 AGACTGTCTCGGATTTCAGTC 0.478000 26 28 0 0 0.00106085 0 0 PTPRN2 5799 broad.mit.edu 37 7 157691392 157691392 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:157691392C>T uc003wno.3 - 11 1882 c.1761G>A c.(1759-1761)ctG>ctA p.L587L PTPRN2_uc003wnp.3_Silent_p.L570L|PTPRN2_uc003wnq.3_Silent_p.L558L|PTPRN2_uc003wnr.3_Silent_p.L549L|PTPRN2_uc011kwa.2_Silent_p.L610L NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 587 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GAAGAATTTTCAGTCCAGAGG 0.522000 145 72 0 0 0.00361006 0 0 TSPAN33 340348 broad.mit.edu 37 7 128807634 128807634 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:128807634C>T uc003vop.2 + 7 880 c.771C>T c.(769-771)tcC>tcT p.S257S TSPAN33_uc003voq.2_Silent_p.S89S NM_178562 NP_848657 Q86UF1 TSN33_HUMAN Homo sapiens tetraspanin 33 (TSPAN33), mRNA. 257 integral to membrane NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 TTCTGCTGTCCCAGATCCTAG 0.542000 16 6 0 0 0.00116845 0 0 SHANK2 22941 broad.mit.edu 37 11 70333553 70333553 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:70333553C>T uc001oqc.3 - 20 2759 c.2647G>A c.(2647-2649)Ggg>Agg p.G883R SHANK2_uc010rqn.2_Missense_Mutation_p.G359R|SHANK2_uc001opz.3_Missense_Mutation_p.G354R|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 570 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) AAGTACATCCCCTTCTCCCTC 0.582000 12 11 0 0 0.00136819 0 0 CEP97 79598 broad.mit.edu 37 3 101476477 101476477 + Splice_Site SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:101476477G>T uc003dvk.1 + 9 1055 c.1028_splice c.e9-1 p.E343_splice CEP97_uc010hpm.1_Splice_Site_p.E309_splice|CEP97_uc011bhf.1_Intron|CEP97_uc003dvl.1_Splice_Site_p.E39_splice|CEP97_uc003dvm.1_Splice_Site_p.E181_splice NM_024548 NP_078824 Q8IW35 CEP97_HUMAN Homo sapiens centrosomal protein 97kDa (CEP97), mRNA. 343 CEP110 binding. centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 GATTCTTCTAGAACCCGTCAT 0.328000 25 10 3.86212e-05 0.000121118 0.000673444 1 0 SIRPG 55423 broad.mit.edu 37 20 1616917 1616917 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:1616917G>A uc002wfm.1 - 2 730 c.665C>T c.(664-666)tCt>tTt p.S222F SIRPG_uc002wfn.1_Missense_Mutation_p.S222F|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA. 222 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion integral to membrane|intracellular|plasma membrane protein binding p.R221C(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 GATGACCTGAGAGCGAACGTC 0.617000 37 17 0 0 0.00074312 0 0 HCRTR2 3062 broad.mit.edu 37 6 55113604 55113604 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:55113604C>T uc003pcl.3 + 1 706 c.391C>T c.(391-393)Cct>Tct p.P131S HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.P66S NM_001526 NP_001517 O43614 OX2R_HUMAN Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA. 131 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CAAAGTGATTCCTTATCTACA 0.428000 127 50 0 0 0.00361006 0 0 TPTE 7179 broad.mit.edu 37 21 10914379 10914379 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:10914379G>A uc002yip.1 - 20 1708 c.1340C>T c.(1339-1341)tCa>tTa p.S447L TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.S429L|TPTE_uc002yir.1_Missense_Mutation_p.S409L|TPTE_uc010gkv.1_Missense_Mutation_p.S309L NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 447 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) TTTTCCTAATGAAATAGTGGA 0.328000 65 7 0 0 0.00307968 0 0 HMCN1 83872 broad.mit.edu 37 1 186008000 186008000 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:186008000C>T uc001grq.1 + 37 6120 c.5891C>T c.(5890-5892)tCc>tTc p.S1964F NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 1964 Ig-like C2-type 17. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CTCTCAGGTTCCACCAGCATG 0.363000 67 23 0 0 0.000878237 0 0 CPA2 1358 broad.mit.edu 37 7 129909544 129909544 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:129909544G>A uc003vpq.3 + 2 208 c.189G>A c.(187-189)gaG>gaA p.E63E CPA2_uc011kpc.1_Silent_p.E63E NM_001869 NP_001860 P48052 CBPA2_HUMAN Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA. 63 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) CCCCAGGGGAGACAGCCCACG 0.512000 36 17 0 0 0.000958276 0 0 SETD5 55209 broad.mit.edu 37 3 9476509 9476509 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:9476509G>A uc003brt.3 + 6 765 c.330_splice c.e6-1 p.R110_splice SETD5_uc003brs.1_Splice_Site_p.R91_splice|SETD5_uc003bru.3_Splice_Site|SETD5_uc003brv.3_Splice_Site NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN Homo sapiens SET domain containing 5 (SETD5), mRNA. 110 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) CCTCTTTAGGGGAATGAGCAG 0.458000 9 4 0 0 0.00024832 0 0 CLCA1 1179 broad.mit.edu 37 1 86951181 86951181 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:86951181C>T uc001dlt.3 + 5 1151 c.891C>T c.(889-891)ttC>ttT p.F297F CLCA1_uc001dls.1_Silent_p.F236F NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN Homo sapiens chloride channel accessory 1 (CLCA1), mRNA. 297 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) ATCCCACCTTCTCATTGCTGC 0.443000 97 24 0 0 0.00106085 0 0 CD300A 11314 broad.mit.edu 37 17 72469840 72469840 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:72469840G>A uc002jkv.3 + 1 527 c.206G>A c.(205-207)gGa>gAa p.G69E CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN Homo sapiens CD300a molecule (CD300A), mRNA. 69 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 GGGTCAGCAGGAAAAAGGAAC 0.517000 46 25 0 0 0.00127121 0 0 ABCA12 26154 broad.mit.edu 37 2 215890416 215890416 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:215890416G>A uc002vew.3 - 10 1488 c.1268C>T c.(1267-1269)cCt>cTt p.P423L ABCA12_uc002vev.3_Missense_Mutation_p.P105L|ABCA12_uc010zjn.2_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 423 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity p.P423T(1) 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) TAGGACTTCAGGAACTGGAGG 0.299000 51 25 0 0 0.00127121 0 0 TNFSF14 8740 broad.mit.edu 37 19 6667151 6667151 + Nonsense_Mutation SNP C A A rs143854617 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:6667151C>A uc002mfk.2 - 3 653 c.271G>T c.(271-273)Gag>Tag p.E91* TNFSF14_uc002mfj.2_Nonsense_Mutation_p.E55* NM_003807 NP_003798 O43557 TNF14_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA. 91 T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding p.E91*(2) breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 GGGTTGACCTCGTGAGACCTT 0.587000 48 11 5.50884e-06 1.72907e-05 0.00136819 1 0 C6orf118 168090 broad.mit.edu 37 6 165711528 165711528 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:165711528G>A uc003qum.4 - 4 1035 c.999C>T c.(997-999)ctC>ctT p.L333L C6orf118_uc011egi.1_Non-coding_Transcript NM_144980 NP_659417 Q5T5N4 CF118_HUMAN Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA. 333 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CTTCCCTGGCGAGATCCATGT 0.562000 45 20 0 0 0.00121646 0 0 SPOCK3 50859 broad.mit.edu 37 4 167675876 167675876 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:167675876G>A uc011cjq.1 - 6 807 c.750C>T c.(748-750)ttC>ttT p.F250F SPOCK3_uc021xuf.1_Silent_p.F241F|SPOCK3_uc011cjr.1_Silent_p.F121F|SPOCK3_uc003iri.1_Silent_p.F241F|SPOCK3_uc011cjs.1_Silent_p.F190F|SPOCK3_uc003irj.1_Silent_p.F238F|SPOCK3_uc011cjt.1_Silent_p.F149F|SPOCK3_uc011cjp.2_Silent_p.F198F|SPOCK3_uc011cju.1_Silent_p.F145F|SPOCK3_uc011cjv.1_Silent_p.F143F|SPOCK3_uc003irk.4_Silent_p.F238F NM_001204353 NP_001191282 Q9BQ16 TICN3_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA. 241 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity p.S249T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) TGCTGGTATCGAATCCTAAAG 0.383000 44 16 0 0 0.000958276 0 0 SPINK9 643394 broad.mit.edu 37 5 147716009 147716009 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:147716009A>G uc003lpe.1 + 1 135 c.80A>G c.(79-81)aAa>aGa p.K27R AK054753_uc003lpb.1_Intron NM_001040433 NP_001035523 Q5DT21 ISK9_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 9 (SPINK9), mRNA. 27 Kazal-like. K -> Q (in Ref. 1; AA sequence). extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(1)|urinary_tract(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAACAGACGAAACAGATGGTC 0.299000 88 34 0 0 0.00128727 0 0 CSMD2 114784 broad.mit.edu 37 1 34498195 34498195 + Splice_Site SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:34498195C>T uc001bxm.1 - 3 694 c.517_splice c.e3+1 p.V173_splice CSMD2_uc001bxn.1_Splice_Site_p.V133_splice NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 133 Sushi 1. 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) AGGCACTTACCTTCATAGGTG 0.562000 5 8 0 0 0.000673444 0 0 CNTN1 1272 broad.mit.edu 37 12 41323782 41323782 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:41323782C>T uc001rmm.1 + 6 794 c.681C>T c.(679-681)atC>atT p.I227I CNTN1_uc009zjy.2_Silent_p.I227I|CNTN1_uc001rmn.1_Silent_p.I216I|CNTN1_uc001rmo.3_Silent_p.I227I NM_001843 NP_001834 Q12860 CNTN1_HUMAN Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA. 227 Notch signaling pathway|axon guidance|cell adhesion anchored to membrane|membrane fraction|plasma membrane p.I227I(2) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GCAAATTCATCCCACTCATTC 0.363000 97 48 0 0 0.00361006 0 0 COL11A2 1302 broad.mit.edu 37 6 33154564 33154564 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:33154564C>T uc003ocx.1 - 4 866 c.638G>A c.(637-639)gGg>gAg p.G213E COL11A2_uc003ocy.1_Missense_Mutation_p.G213E|COL11A2_uc003ocz.1_Missense_Mutation_p.G213E|COL11A2_uc003oda.3_Missense_Mutation_p.G213E NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 213 TSP N-terminal. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TGCCTGGACCCCTGGGACAAT 0.562000 130 35 0 0 0.00222228 0 0 OMA1 115209 broad.mit.edu 37 1 59002379 59002379 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:59002379T>A uc001cyy.3 - 2 623 c.535A>T c.(535-537)Aac>Tac p.N179Y DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.N179Y|OMA1_uc009vzz.3_Missense_Mutation_p.N179Y NM_145243 NP_660286 Q96E52 OMA1_HUMAN Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA. 179 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1) 18 all_cancers(7;6.54e-05) TCCTTCTTGTTAGGAGGAAGT 0.348000 105 30 0 0 0.00375469 0 0 GRK1 6011 broad.mit.edu 37 13 114322064 114322064 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:114322064C>T uc010tkf.2 + 0 468 c.363C>T c.(361-363)ctC>ctT p.L121L NM_002929 NP_002920 Q15835 RK_HUMAN Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA. 121 N-terminal.|RGS. regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) AGGCCAAACTCTTCTGCAGCT 0.602000 21 11 0 0 0.000673444 0 0 CASR 846 broad.mit.edu 37 3 122003081 122003081 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:122003081C>T uc003eew.4 + 6 2748 c.2310C>T c.(2308-2310)atC>atT p.I770I CASR_uc003eev.4_Silent_p.I760I NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 760 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 p.L770I(2) 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) AGGATGAGATCATCTTCATCA 0.567000 31 11 0 0 0.000673444 0 0 LPIN2 9663 broad.mit.edu 37 18 2951204 2951204 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:2951204A>G uc002klo.3 - 3 678 c.439T>C c.(439-441)Ttt>Ctt p.F147L NM_014646 NP_055461 Q92539 LPIN2_HUMAN Homo sapiens lipin 2 (LPIN2), mRNA. 147 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) CTTGGAGTAAAAATTGTCTCT 0.423000 59 18 0 0 0.00229938 0 0 ETS2 2114 broad.mit.edu 37 21 40191503 40191503 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:40191503G>A uc002yxf.3 + 8 1348 c.1308G>A c.(1306-1308)tgG>tgA p.W436* ETS2_uc002yxg.3_Nonsense_Mutation_p.W296* NM_005239 NP_005230 P15036 ETS2_HUMAN Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA. 296 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) TCCAGTCCTGGAACAGCCAGT 0.552000 16 10 0 0 0.000442599 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430983 37430983 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:37430983G>A uc021ppc.1 + 6 1089 c.990G>A c.(988-990)gaG>gaA p.E330E ANKRD30A_uc001iza.1_Silent_p.E330E NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 386 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 TCGCATGGGAGAAAAAAGAAG 0.443000 81 34 0 0 0.00111076 0 0 NUAK2 81788 broad.mit.edu 37 1 205273169 205273169 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:205273169G>A uc001hce.3 - 6 1423 c.1296C>T c.(1294-1296)atC>atT p.I432I NM_030952 NP_112214 Q9H093 NUAK2_HUMAN Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA. 432 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) GGCTCGCAGGGATTGGGCTGA 0.622000 23 14 0 0 0.00316338 0 0 NEIL2 252969 broad.mit.edu 37 8 11637289 11637289 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:11637289C>T uc003wug.2 + 2 996 c.321C>T c.(319-321)ctC>ctT p.L107L NEIL2_uc003wue.2_Silent_p.L107L|NEIL2_uc003wuf.2_Silent_p.L46L|NEIL2_uc011kxd.1_Intron NM_145043 NP_001129219 Q969S2 NEIL2_HUMAN Homo sapiens nei endonuclease VIII-like 2 (E. coli) (NEIL2), transcript variant 1, mRNA. 107 base-excision repair|nucleotide-excision repair nucleus DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) CTGCAGAGCTCGTCCCCCAGG 0.597000 Base excision repair (BER), DNA glycosylases 50 17 0 0 0.00121646 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43945674 43945674 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:43945674G>A uc010skx.2 - 0 51 c.51C>T c.(49-51)ttC>ttT p.F17F NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 17 proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ACCTGGTGATGAAGAGCGAGA 0.652000 40 16 0 0 0.00074312 0 0 APOL4 80832 broad.mit.edu 37 22 36587695 36587695 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:36587695G>A uc003aox.3 - 5 706 c.481C>T c.(481-483)Cca>Tca p.P161S APOL4_uc003aow.3_Missense_Mutation_p.P158S|APOL4_uc010gww.3_Missense_Mutation_p.P4S NM_145660 NP_663693 Q9BPW4 APOL4_HUMAN Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA. 162 lipid metabolic process|lipid transport|lipoprotein metabolic process extracellular region lipid binding lung(1) 1 GCTGTAAATGGTGCCAACATA 0.552000 13 8 0 0 0.000274275 0 0 DNAH5 1767 broad.mit.edu 37 5 13769624 13769624 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:13769624C>T uc003jfd.2 - 56 9748 c.9706G>A c.(9706-9708)Gat>Aat p.D3236N DNAH5_uc003jfc.2_5'Flank NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3236 Stalk (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) TCGGCTTTATCGTTGGCCACT 0.418000 Kartagener syndrome 99 50 0 0 0.00361006 0 0 ORC1 4998 broad.mit.edu 37 1 52850381 52850381 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:52850381G>A uc001ctt.3 - 10 1827 c.1596C>T c.(1594-1596)atC>atT p.I532I ORC1_uc010oni.2_Silent_p.I527I|ORC1_uc001ctu.3_Silent_p.I532I NM_004153 NP_004144 Q13415 ORC1_HUMAN Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA. 532 Necessary and sufficient for ORC complex assembly. DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GGACACCGGAGATGTACATGC 0.517000 21 9 0 0 0.000442599 0 0 CNDP1 84735 broad.mit.edu 37 18 72238423 72238423 + Silent SNP G C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:72238423G>C uc002llq.3 + 6 970 c.759G>C c.(757-759)gtG>gtC p.V253V CNDP1_uc002lls.3_Silent_p.V56V NM_032649 NP_116038 Q96KN2 CNDP1_HUMAN Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA. 253 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) CTCTGCAGGTGAAATGCAGAG 0.428000 62 22 0 0 0.00332997 0 0 TMCO4 255104 broad.mit.edu 37 1 20021023 20021023 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:20021023G>A uc001bcn.3 - 14 1646 c.1404C>T c.(1402-1404)ttC>ttT p.F468F TMCO4_uc001bco.1_Silent_p.F468F|TMCO4_uc001bcp.1_Silent_p.F428F NM_181719 NP_859070 Q5TGY1 TMCO4_HUMAN Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA. 468 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) TGCGGTACACGAAACTCAGCA 0.632000 32 16 0 0 0.00121646 0 0 WDR52 55779 broad.mit.edu 37 3 113120439 113120439 + Silent SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:113120439A>G uc003ead.2 - 9 1385 c.1318T>C c.(1318-1320)Ttg>Ctg p.L440L WDR52_uc003eae.2_Silent_p.L440L NM_001164496 NP_001157968 Q96MT7 WDR52_HUMAN Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA. 440 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 ACCTGAGCCAACCAAAAGTTA 0.343000 34 17 0 0 0.00074312 0 0 SI 6476 broad.mit.edu 37 3 164777015 164777015 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:164777015C>T uc003fei.3 - 10 1282 c.1219G>A c.(1219-1221)Gga>Aga p.G407R NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 407 Isomaltase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGAGGGAGTCCGTTAAACGCA 0.328000 HNSCC(35;0.089) 36 19 0 0 0.00074312 0 0 C12orf63 374467 broad.mit.edu 37 12 97102521 97102521 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:97102521G>A uc021rcc.1 + 14 2017 c.1939G>A c.(1939-1941)Gaa>Aaa p.E647K Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 647 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 TTGTGTCCCAGAAAATAAATT 0.333000 66 23 0 0 0.00395357 0 0 CYP11B2 1585 broad.mit.edu 37 8 143999038 143999038 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:143999038C>T uc003yxk.1 - 0 222 c.219G>A c.(217-219)caG>caA p.Q73Q NM_000498 NP_000489 P19099 C11B2_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA. 73 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) GCCCCAGCTCCTGGAAGGTCT 0.637000 Familial Hyperaldosteronism type I 37 12 0 0 0.00136819 0 0 C21orf59 56683 broad.mit.edu 37 21 33954638 33954638 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:33954638G>A uc002ypy.2 - 6 1215 c.850C>T c.(850-852)Cat>Tat p.H284Y C21orf59_uc002ypw.4_Missense_Mutation_p.H78Y|C21orf59_uc002ypx.1_Missense_Mutation_p.H101Y|C21orf59_uc002ypz.2_Missense_Mutation_p.H252Y NM_021254 NP_067077 P57076 CU059_HUMAN Homo sapiens chromosome 21 open reading frame 59 (C21orf59), transcript variant 1, mRNA. 278 cytosol|nucleus endometrium(2)|large_intestine(1)|prostate(1)|skin(1) 5 GCATCTATATGACTCCGGAGT 0.517000 69 23 0 0 0.00395357 0 0 OR2J2 26707 broad.mit.edu 37 6 29142018 29142018 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:29142018C>T uc011dlm.2 + 0 708 c.606C>T c.(604-606)gtC>gtT p.V202V NM_030905 NP_112167 O76002 OR2J2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA. 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 CCCTCATGGTCATGAGCTCCA 0.478000 117 28 0 0 0.000878237 0 0 IVL 3713 broad.mit.edu 37 1 152882513 152882513 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:152882513G>A uc021ozl.1 + 0 240 c.240G>A c.(238-240)aaG>aaA p.K80K IVL_uc001fau.3_Silent_p.K80K NM_005547 NP_005538 P07476 INVO_HUMAN Homo sapiens involucrin (IVL), mRNA. 80 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) aacagcagaaggagccacagg 0.522000 34 11 0 0 0.000673444 0 0 PSG3 5671 broad.mit.edu 37 19 43233405 43233405 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:43233405C>T uc002oue.3 - 4 1245 c.1113G>A c.(1111-1113)aaG>aaA p.K371K PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.K371K NM_021016 NP_066296 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA. 371 Ig-like C2-type 3. Missing (in Ref. 9). defense response|female pregnancy extracellular region p.G370R(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) ATAGCTGAAACTTCCCATTAA 0.453000 163 53 0 0 0.00361006 0 0 OR5D14 219436 broad.mit.edu 37 11 55563901 55563901 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:55563901G>A uc010rim.2 + 0 870 c.870G>A c.(868-870)ctG>ctA p.L290L NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA. 290 L -> P (in dbSNP:rs297055). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L290L(4)|p.L290M(1)|p.L290P(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TGAACCCTCTGATCTACAGCC 0.408000 16 24 0 0 0.00127121 0 0 CHRM4 1132 broad.mit.edu 37 11 46407940 46407940 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:46407940G>A uc001nct.1 - 0 168 c.168C>T c.(166-168)tcC>tcT p.S56S NM_000741 NP_000732 P08173 ACM4_HUMAN Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA. 56 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) TGACCTTGATGGACAGCATCA 0.537000 15 14 0 0 0.00185496 0 0 USHBP1 83878 broad.mit.edu 37 19 17370418 17370418 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:17370418C>T uc002nfs.1 - 5 1005 c.892G>A c.(892-894)Gag>Aag p.E298K USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.E234K|USHBP1_uc010eam.1_Missense_Mutation_p.E226K NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA. 298 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 CGGAGTTGCTCCATCTGGGCT 0.567000 149 68 0 0 0.00361006 0 0 OR2A25 392138 broad.mit.edu 37 7 143771684 143771684 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:143771684C>T uc011ktx.2 + 0 372 c.372C>T c.(370-372)gcC>gcT p.A124A NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) GGTACGTGGCCATCTGCCACC 0.478000 76 25 0 0 0.000720815 0 0 KRT40 125115 broad.mit.edu 37 17 39138607 39138607 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:39138607C>T uc010cxh.1 - 4 800 c.639G>A c.(637-639)gtG>gtA p.V213V KRT40_uc002hvq.1_Non-coding_Transcript NM_182497 NP_872303 Q6A162 K1C40_HUMAN Homo sapiens keratin 40 (KRT40), mRNA. 213 Coil 1B.|Rod. intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) TCAGAGACTCCACATGGGCCT 0.507000 66 19 0 0 0.00074312 0 0 TFPI 7035 broad.mit.edu 37 2 188361745 188361745 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:188361745C>T uc002upy.3 - 2 477 c.182G>A c.(181-183)gGc>gAc p.G61D TFPI_uc002uqa.2_Missense_Mutation_p.G61D|TFPI_uc002uqb.2_Missense_Mutation_p.G61D NM_006287 NP_006278 P10646 TFPI1_HUMAN Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA. 61 BPTI/Kunitz inhibitor 1. blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) TTTACATGGGCCATCATCCGC 0.343000 41 14 0 0 0.00185496 0 0 PLAA 9373 broad.mit.edu 37 9 26913921 26913921 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:26913921G>A uc003zqd.3 - 10 1936 c.1511C>T c.(1510-1512)tCt>tTt p.S504F PLAA_uc003zqe.2_Missense_Mutation_p.S504F NM_001031689 NP_001026859 Q9Y263 PLAP_HUMAN Homo sapiens phospholipase A2-activating protein (PLAA), mRNA. 504 phospholipid metabolic process|signal transduction phospholipase A2 activator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 17 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) CATACTTGCAGAACCTGGTAC 0.348000 30 18 0 0 0.00278032 0 0 OTOA 146183 broad.mit.edu 37 16 21698771 21698771 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:21698771G>A uc002djh.3 + 6 438 c.437G>A c.(436-438)cGa>cAa p.R146Q LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.R67Q NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA. 146 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GGAGAGATTCGAGAACGAGCC 0.522000 67 31 0 0 0.00170553 0 0 UNC13C 440279 broad.mit.edu 37 15 54914563 54914563 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:54914563C>T uc021smr.1 + 28 6139 c.6139C>T c.(6139-6141)Cat>Tat p.H2047Y UNC13C_uc021sms.1_Missense_Mutation_p.H2049Y|UNC13C_uc002acm.3_5'UTR NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 2049 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) GATATCTGTTCATGTGGACAT 0.428000 41 29 0 0 0.00428921 0 0 TPO 7173 broad.mit.edu 37 2 1480954 1480954 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:1480954G>A uc002qwr.3 + 7 1002 c.916G>A c.(916-918)Ggg>Agg p.G306R TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.G306R|TPO_uc002qwx.3_Missense_Mutation_p.G306R|TPO_uc002qwu.3_Missense_Mutation_p.G306R|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Missense_Mutation_p.G306R NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 306 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CGCGCTCTTTGGGAACCTGTC 0.711000 15 7 0 0 0.00198382 0 0 BCL9 607 broad.mit.edu 37 1 147094133 147094133 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:147094133C>T uc001epq.3 + 8 3704 c.2964C>T c.(2962-2964)ccC>ccT p.P988P BCL9_uc010ozr.1_Silent_p.P914P NM_004326 NP_004317 O00512 BCL9_HUMAN Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA. 988 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GAAGTCTTCCCTCTAGTACAC 0.498000 T """IGH@, IGL@""" B-ALL 112 57 0 0 0.00361006 0 0 INO80 54617 broad.mit.edu 37 15 41276081 41276081 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:41276081G>A uc001zni.3 - 33 4329 c.4116C>T c.(4114-4116)ccC>ccT p.P1372P INO80_uc010ucu.2_Non-coding_Transcript|INO80_uc021sjj.1_Silent_p.P166P NM_017553 NP_060023 Q9ULG1 INO80_HUMAN Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA. 1372 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly Ino80 complex|microtubule ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TCTCGTCCAGGGGAATGGAGC 0.572000 20 17 0 0 0.00152264 0 0 EPHA7 2045 broad.mit.edu 37 6 93967213 93967213 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:93967213G>A uc003poe.3 - 11 2380 c.2139C>T c.(2137-2139)ttC>ttT p.F713F EPHA7_uc003pof.3_Silent_p.F708F|EPHA7_uc011eac.2_Silent_p.F709F NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 713 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CATTTTCCATGAACTCTATTA 0.363000 45 20 0 0 0.00229938 0 0 OR2A25 392138 broad.mit.edu 37 7 143771348 143771348 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:143771348C>T uc011ktx.2 + 0 36 c.36C>T c.(34-36)ctC>ctT p.L12L NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L12I(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) CAGAGTTCCTCCTACTGGGAT 0.478000 52 35 0 0 0.00428921 0 0 TET3 200424 broad.mit.edu 37 2 74273784 74273784 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:74273784C>T uc002skb.4 + 0 335 c.335C>T c.(334-336)tCt>tTt p.S112F TET3_uc010fez.2_Missense_Mutation_p.S112F NM_144993 NP_659430 O43151 TET3_HUMAN Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA. 112 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GAGGGCTGCTCTGCTGGCAGC 0.632000 34 18 0 0 0.000958276 0 0 ACTN2 88 broad.mit.edu 37 1 236912487 236912487 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:236912487C>T uc001hyf.2 + 13 1783 c.1579C>T c.(1579-1581)Cct>Tct p.P527S ACTN2_uc001hyg.2_Missense_Mutation_p.P319S|ACTN2_uc009xgi.1_Missense_Mutation_p.P527S|ACTN2_uc010pxu.1_Missense_Mutation_p.P216S NM_001103 NP_001094 P35609 ACTN2_HUMAN Homo sapiens actinin, alpha 2 (ACTN2), mRNA. 527 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GAGGGCTGCTCCTTTCAACAA 0.433000 61 23 0 0 0.00278032 0 0 NUP62 23636 broad.mit.edu 37 19 50411634 50411634 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:50411634G>A uc002prb.3 - 1 1675 c.1431C>T c.(1429-1431)atC>atT p.I477I IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Silent_p.I477I|NUP62_uc002pqy.3_Silent_p.I477I|NUP62_uc002pra.3_Silent_p.I477I|NUP62_uc002pqz.3_Silent_p.I477I|NUP62_uc002prc.3_Silent_p.I401I|NUP62_uc021uya.1_Silent_p.I477I NM_012346 NP_714941 P37198 NUP62_HUMAN Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA. 477 carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2) 19 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GCGCATTGAGGATCTTGCAGA 0.622000 73 34 0 0 0.00327116 0 0 ZNF169 169841 broad.mit.edu 37 9 97062705 97062706 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:97062705_97062706CC>TT uc022bki.1 + 3 923_924 c.868_869CC>TT c.(868-870)ccg>TTg p.P290L ZNF169_uc004aum.1_Missense_Mutation_p.P289L NM_194320 NP_919301 Q14929 ZN169_HUMAN Homo sapiens zinc finger protein 169 (ZNF169), mRNA. 289 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(62;0.136) GGGGGAGAAGCCGTATGTGTGC 0.559000 50 28 0 0 6.4e-05 0 0 LIMS2 55679 broad.mit.edu 37 2 128412413 128412413 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:128412413C>T uc002tpa.3 - 2 395 c.229G>A c.(229-231)Gga>Aga p.G77R LIMS2_uc002tox.3_Missense_Mutation_p.G101R|LIMS2_uc010fmb.3_5'UTR|LIMS2_uc002toy.3_Missense_Mutation_p.G72R|LIMS2_uc002toz.3_Missense_Mutation_p.G72R|LIMS2_uc010yzm.2_Missense_Mutation_p.G99R|LIMS2_uc002tpb.3_Missense_Mutation_p.G72R NM_001161403 NP_001154876 Q7Z4I7 LIMS2_HUMAN Homo sapiens LIM and senescent cell antigen-like domains 2 (LIMS2), transcript variant 3, mRNA. 77 LIM zinc-binding 2. cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding p.G77A(1) endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) CCGCAGGATCCACAGCACGGA 0.602000 15 8 0 0 0.000274275 0 0 SIM1 6492 broad.mit.edu 37 6 100841753 100841753 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:100841753G>A uc003pqj.4 - 9 1647 c.1180C>T c.(1180-1182)Cac>Tac p.H394Y SIM1_uc021zdg.1_Missense_Mutation_p.H394Y|SIM1_uc010kcu.3_Missense_Mutation_p.H394Y NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 394 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CTTTCTGTGTGAAATCCCGAA 0.478000 37 8 0 0 0.000274275 0 0 ADAM8 101 broad.mit.edu 37 10 135085413 135085413 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:135085413C>T uc021qbe.1 - 10 1089 c.1003G>A c.(1003-1005)Gag>Aag p.E335K ADAM8_uc009ybi.3_Missense_Mutation_p.E335K|ADAM8_uc010qva.2_Missense_Mutation_p.E296K|ADAM8_uc010qvb.1_3'UTR NM_001109 NP_001100 B4DVM6 B4DVM6_HUMAN Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA. 296 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2) 17 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) TGGCCCATCTCATGGGCCATG 0.647000 23 21 0 0 0.00229938 0 0 NPR1 4881 broad.mit.edu 37 1 153655028 153655028 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:153655028C>T uc001fcs.4 + 4 1647 c.1226C>T c.(1225-1227)tCc>tTc p.S409F NPR1_uc010pdz.2_Missense_Mutation_p.S155F|NPR1_uc010pea.2_5'Flank NM_000906 NP_000897 P16066 ANPRA_HUMAN Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA. 409 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) ACAGACTTCTCCCTCTGGGAT 0.488000 17 8 0 0 0.000442599 0 0 CYP4A22 284541 broad.mit.edu 37 1 47610323 47610323 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:47610323C>T uc001cqv.1 + 7 1050 c.999C>T c.(997-999)atC>atT p.I333I CYP4A22_uc009vyo.3_Silent_p.I333I|CYP4A22_uc009vyp.3_Intron NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA. 333 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCTCCTGGATCCTCTATGCTC 0.592000 69 6 0 0 0.00400662 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110509276 110509276 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:110509276G>A uc003yne.3 + 63 10560 c.10456G>A c.(10456-10458)Gat>Aat p.D3486N NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 3486 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GACATGCTGGGATTATGGAAT 0.338000 HNSCC(38;0.096) 83 26 0 0 0.000878237 0 0 ARMC8 25852 broad.mit.edu 37 3 137956154 137956154 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:137956154C>T uc003esa.1 + 8 938 c.571C>T c.(571-573)Cga>Tga p.R191* ARMC8_uc003erw.3_Nonsense_Mutation_p.R191*|ARMC8_uc003erx.3_Nonsense_Mutation_p.R191*|ARMC8_uc003ery.3_Nonsense_Mutation_p.R163*|ARMC8_uc011bmf.1_Nonsense_Mutation_p.R174*|ARMC8_uc011bmg.1_Nonsense_Mutation_p.R205*|ARMC8_uc011bmh.1_Nonsense_Mutation_p.R132*|ARMC8_uc003esb.1_Nonsense_Mutation_p.R163*|ARMC8_uc003esc.1_5'UTR NM_015396 NP_056211 Q8IUR7 ARMC8_HUMAN Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA. 205 binding endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1) 16 TTTACAGGTTCGAATGCAAGC 0.343000 292 111 0 0 0.00361006 0 0 NAB1 4664 broad.mit.edu 37 2 191550256 191550256 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:191550256T>C uc002usb.3 + 7 1722 c.1150T>C c.(1150-1152)Tat>Cat p.Y384H NAB1_uc010fsc.3_Missense_Mutation_p.Y384H|NAB1_uc010fsd.3_Missense_Mutation_p.Y383H|NAB1_uc002usc.3_Missense_Mutation_p.Y383H|NAB1_uc010zgh.2_Missense_Mutation_p.Y354H NM_005966 NP_005957 Q13506 NAB1_HUMAN Homo sapiens NGFI-A binding protein 1 (EGR1 binding protein 1) (NAB1), mRNA. 384 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) CCAAGCTGGCTATGAGAGACT 0.468000 17 12 0 0 0.00400662 0 0 TEX26 122046 broad.mit.edu 37 13 31513914 31513914 + Splice_Site SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:31513914C>T uc001uti.3 + 2 165 c.146_splice c.e2+1 p.R49_splice NM_152325 NP_689538 Q8N6G2 CM026_HUMAN Homo sapiens chromosome 13 open reading frame 26 (C13orf26), mRNA. 49 TGCCTTAATTCGGTAGATCAT 0.383000 41 14 0 0 0.00400662 0 0 RYR1 6261 broad.mit.edu 37 19 38979928 38979928 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:38979928G>A uc002oit.3 + 34 5789 c.5659G>A c.(5659-5661)Gaa>Aaa p.E1887K RYR1_uc002oiu.3_Missense_Mutation_p.E1887K NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 1887 6 X approximate repeats.|Glu-rich (acidic). muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) gggtgaagaggaagatgagga 0.498000 11 10 0 0 0.000442599 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140257013 140257013 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140257013G>A uc003lic.2 + 0 2083 c.1956G>A c.(1954-1956)aaG>aaA p.K652K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.K652K NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 663 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGGTGAAGGACCACGGTG 0.687000 34 9 0 0 0.000442599 0 0 PAPPA 5069 broad.mit.edu 37 9 118974097 118974097 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:118974097G>A uc004bjn.3 + 3 2185 c.1804G>A c.(1804-1806)Gat>Aat p.D602N PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.2_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 602 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CCTCTGCAATGATACCAACCC 0.532000 214 64 0 0 0.00361006 0 0 EMR1 2015 broad.mit.edu 37 19 6904109 6904109 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:6904109C>T uc002mfw.3 + 7 903 c.865C>T c.(865-867)Ctg>Ttg p.L289L EMR1_uc010dvc.3_Silent_p.L289L|EMR1_uc010dvb.3_Silent_p.L237L|EMR1_uc010xji.2_Silent_p.L148L|EMR1_uc010xjj.2_Intron NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 289 EGF-like 6; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding 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) CACCAATGCCCTGGGCTCCTA 0.473000 52 24 0 0 0.000720815 0 0 ARMC4 55130 broad.mit.edu 37 10 28273152 28273152 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:28273152C>T uc009xky.3 - 4 741 c.643G>A c.(643-645)Gga>Aga p.G215R ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.G215R|ARMC4_uc010qdu.1_5'Flank NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 215 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GTTTGGTTTCCTTTTCCTGAG 0.308000 125 46 0 0 0.00361006 0 0 PPP1CB 5500 broad.mit.edu 37 2 29006808 29006808 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:29006808C>T uc002rmg.3 + 5 716 c.556C>T c.(556-558)Cgg>Tgg p.R186W PPP1CB_uc010ymj.2_Missense_Mutation_p.R158W|PPP1CB_uc010yml.2_Missense_Mutation_p.R158W|PPP1CB_uc002rmh.3_Missense_Mutation_p.R186W|SPDYA_uc002rmi.3_5'UTR NM_206876 NP_996759 P62140 PP1B_HUMAN Homo sapiens protein phosphatase 1, catalytic subunit, beta isozyme (PPP1CB), transcript variant 3, mRNA. 186 cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process MLL5-L complex|PTW/PP1 phosphatase complex|nucleolus metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) GGAGCAGATTCGGAGAATTAT 0.328000 36 27 0 0 0.00327116 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554011 140554011 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140554011G>A uc003lit.3 + 0 1769 c.1595G>A c.(1594-1596)gGc>gAc p.G532D NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 532 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCCGCGTGGGCGCCACAGAC 0.697000 41 21 0 0 0.00188189 0 0 KCNQ4 9132 broad.mit.edu 37 1 41298783 41298783 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:41298783C>T uc001cgh.2 + 10 1693 c.1611C>T c.(1609-1611)atC>atT p.I537I KCNQ4_uc001cgi.2_Silent_p.I483I NM_004700 NP_004691 P56696 KCNQ4_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA. 537 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) TCCGCTCCATCAGGTAAGACT 0.597000 21 5 0 0 0.000602214 0 0 PRSS35 167681 broad.mit.edu 37 6 84234203 84234203 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:84234203C>T uc003pjz.3 + 1 1283 c.1043C>T c.(1042-1044)tCg>tTg p.S348L PRSS35_uc010kbm.3_Missense_Mutation_p.S348L|PRSS35_uc021zce.1_Missense_Mutation_p.S348L NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA. 348 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) TCCACCGGTTCGGGGGTCTAT 0.517000 61 23 0 0 0.00395357 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069714 114069714 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:114069714G>A uc003ebi.3 - 3 1391 c.1211C>T c.(1210-1212)gCt>gTt p.A404V ZBTB20_uc003ebj.3_Missense_Mutation_p.A331V|ZBTB20_uc010hqp.3_Missense_Mutation_p.A331V|ZBTB20_uc003ebk.3_Missense_Mutation_p.A331V|ZBTB20_uc003ebl.3_Missense_Mutation_p.A331V|ZBTB20_uc003ebm.3_Missense_Mutation_p.A331V|ZBTB20_uc003ebn.3_Missense_Mutation_p.A331V|ZBTB20-AS1_uc003ebo.2_5'Flank NM_001164342 NP_056457 Q9HC78 ZBT20_HUMAN Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA. 404 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) GGTGGGTTCAGCCTGGCTGTC 0.632000 34 17 0 0 0.00121646 0 0 TTLL2 83887 broad.mit.edu 37 6 167754124 167754124 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:167754124C>T uc003qvs.1 + 2 824 c.736C>T c.(736-738)Cct>Tct p.P246S NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA. 246 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) TATCTCCAATCCTTTACTTAT 0.383000 94 31 0 0 0.00127121 0 0 NOMO2 283820 broad.mit.edu 37 16 18532158 18532158 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:18532158G>A uc002dfe.3 - 18 2274 c.2202C>T c.(2200-2202)acC>acT p.T734T NOMO2_uc002dff.3_Silent_p.T734T|NOMO2_uc010bvx.3_Silent_p.T567T|Mir_548_uc021teb.1_5'Flank NM_001004060 NP_001004060 Q5JPE7 NOMO2_HUMAN Homo sapiens NODAL modulator 2 (NOMO2), transcript variant 1, mRNA. 734 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 CGGGAGGCTTGGTCATTCTTT 0.557000 212 39 0 0 0.00361006 0 0 CRAT 1384 broad.mit.edu 37 9 131860856 131860856 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:131860856G>A uc004bxh.3 - 8 1441 c.1159C>T c.(1159-1161)Ccc>Tcc p.P387S CRAT_uc004bxk.4_Missense_Mutation_p.P366S NM_000755 NP_000746 P43155 CACP_HUMAN Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 387 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) TTGATCTCGGGGGTGATGTTG 0.617000 127 36 0 0 0.00148497 0 0 FBXO40 51725 broad.mit.edu 37 3 121345629 121345629 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:121345629C>T uc003eeg.2 + 3 2212 c.2002C>T c.(2002-2004)Cct>Tct p.P668S NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 668 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding p.P668L(1) NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GAAGTCCTGTCCTTTCAACAT 0.478000 80 34 0 0 0.00375469 0 0 NME8 51314 broad.mit.edu 37 7 37934091 37934091 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:37934091G>A uc003tfn.3 + 15 1795 c.1423G>A c.(1423-1425)Gag>Aag p.E475K NM_016616 NP_057700 Q8N427 TXND3_HUMAN Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA. 475 NDK 3. CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity GATAGTTAAGGAGGCTGGATT 0.328000 58 33 0 0 0.00375469 0 0 NT5C1B-RDH14 100526794 broad.mit.edu 37 2 18765453 18765453 + Silent SNP C T T rs151116969 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:18765453C>T uc010exr.3 - 4 910 c.798G>A c.(796-798)agG>agA p.R266R NT5C1B-RDH14_uc002rcy.3_Silent_p.R324R|NT5C1B-RDH14_uc010yju.2_Silent_p.R264R|NT5C1B-RDH14_uc002rcz.3_Silent_p.R324R|NT5C1B-RDH14_uc010yjw.2_Silent_p.R307R|NT5C1B-RDH14_uc010yjv.2_Silent_p.R341R|NT5C1B-RDH14_uc010exs.3_Silent_p.R326R|NT5C1B-RDH14_uc002rda.3_Silent_p.R264R|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Silent_p.R116R NM_001199103 NP_001186032 Q96P26 5NT1B_HUMAN Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA. 324 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding p.R324R(1) CGTAGATTTTCCTGCCGTCCA 0.562000 90 38 0 0 0.00222228 0 0 KL 9365 broad.mit.edu 37 13 33635671 33635671 + Nonsense_Mutation SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:33635671G>T uc001uus.3 + 3 2463 c.2455G>T c.(2455-2457)Gaa>Taa p.E819* KL_uc001uur.1_3'UTR NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN Homo sapiens klotho (KL), mRNA. 819 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CTCAGAAAAAGAAGATCCAAT 0.428000 35 17 2.48551e-13 7.838e-13 0.000566183 1 0 SPTA1 6708 broad.mit.edu 37 1 158597434 158597434 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:158597434C>T uc001fst.1 - 39 5844 c.5645G>A c.(5644-5646)gGa>gAa p.G1882E NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1882 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GATGTCTTCTCCTTGTGCACA 0.418000 67 26 0 0 0.00106085 0 0 OR52B4 143496 broad.mit.edu 37 11 4388923 4388923 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:4388923C>T uc010qye.2 - 0 694 c.603G>A c.(601-603)ggG>ggA p.G201G NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA. 201 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) GAATGGAAAACCCATACCAAA 0.378000 47 21 0 0 0.00152264 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140712271 140712271 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140712271G>A uc003lji.2 + 0 2020 c.2020G>A c.(2020-2022)Gac>Aac p.D674N PCDHGC5_uc011dan.2_Missense_Mutation_p.D674N NM_018912 NP_061735 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA. 676 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCCTGGCCGACCTGGGCAG 0.692000 62 31 0 0 0.00178596 0 0 AP2A2 161 broad.mit.edu 37 11 993824 993824 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:993824C>T uc001lst.2 + 12 1837 c.1624C>T c.(1624-1626)Ctg>Ttg p.L542L AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Silent_p.L541L|AP2A2_uc009ycq.1_Silent_p.L132L NM_001242837 NP_001229766 O94973 AP2A2_HUMAN Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA. 541 axon guidance|endocytosis|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|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) CGCGCTGCTCCTGTCCACCTA 0.637000 10 3 0 0 0.000602214 0 0 XIRP1 165904 broad.mit.edu 37 3 39227663 39227663 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:39227663C>T uc003cjk.2 - 1 3503 c.3274G>A c.(3274-3276)Ggt>Agt p.G1092S XIRP1_uc003cji.3_Missense_Mutation_p.G1092S|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.G1092S NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 1092 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) TTCCGAAGACCGTCCTGGATG 0.602000 25 17 0 0 0.00188189 0 0 OR7E24 26648 broad.mit.edu 37 19 9362289 9362289 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9362289G>A uc002mlb.1 + 0 570 c.570G>A c.(568-570)gtG>gtA p.V190V NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA. 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TCAAGGATGTGGACATTTCTA 0.403000 31 15 0 0 0.00244969 0 0 ACSM2B 348158 broad.mit.edu 37 16 20548646 20548646 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:20548646C>T uc002dhj.4 - 14 1878 c.1668G>A c.(1666-1668)ggG>ggA p.G556G ACSM2B_uc002dhk.4_Silent_p.G556G NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 556 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding p.G556W(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 GTTGAATTTTCCCTGTGACAG 0.473000 163 70 0 0 0.00361006 0 0 CTAGE1 64693 broad.mit.edu 37 18 19997691 19997691 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:19997691G>A uc002ktv.1 - 0 188 c.84C>T c.(82-84)ttC>ttT p.F28F NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA. 28 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) TTCTCCACAAGAAGAGAACAG 0.413000 32 13 0 0 0.00136819 0 0 SPTAN1 6709 broad.mit.edu 37 9 131353854 131353854 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:131353854C>T uc004bvl.4 + 21 3247 c.3105C>T c.(3103-3105)ctC>ctT p.L1035L SPTAN1_uc011mbg.2_Silent_p.L1035L|SPTAN1_uc011mbh.2_Silent_p.L1047L|SPTAN1_uc004bvm.4_Silent_p.L1035L|SPTAN1_uc004bvn.4_Silent_p.L1035L NM_003127 NP_003118 Q13813 SPTA2_HUMAN Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA. 1035 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GGGAGAATCTCCTGGAGGAGC 0.572000 83 49 0 0 0.00361006 0 0 ATP10D 57205 broad.mit.edu 37 4 47574980 47574980 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:47574980C>T uc003gxk.1 + 17 3496 c.3332C>T c.(3331-3333)tCc>tTc p.S1111F ATP10D_uc003gxl.1_Missense_Mutation_p.S359F NM_020453 NP_065186 Q9P241 AT10D_HUMAN Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA. 1111 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 ACACGGCTTTCCAACATGATT 0.448000 111 47 0 0 0.00361006 0 0 KCNK13 56659 broad.mit.edu 37 14 90650698 90650698 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:90650698C>T uc001xye.1 + 1 1020 c.578C>T c.(577-579)tCc>tTc p.S193F NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA. 193 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) TGGAAGCCCTCCGTGTACTAC 0.627000 42 31 0 0 0.0024448 0 0 SLC34A1 6569 broad.mit.edu 37 5 176812783 176812783 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:176812783C>T uc003mgk.4 + 1 145 c.41C>T c.(40-42)tCc>tTc p.S14F SLC34A1_uc021yis.1_Missense_Mutation_p.S14F NM_003052 NP_003043 Q06495 NPT2A_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA. 14 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) 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) CCTGCTGTCTCCCCACTCCCA 0.622000 17 8 0 0 0.000442599 0 0 PEX5 5830 broad.mit.edu 37 12 7361653 7361653 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:7361653C>T uc009zfu.2 + 14 2027 c.1447C>T c.(1447-1449)Cct>Tct p.P483S PEX5_uc001qsw.3_Missense_Mutation_p.P483S|PEX5_uc010sgc.2_Missense_Mutation_p.P498S|PEX5_uc001qsu.3_Missense_Mutation_p.P446S|PEX5_uc010sgd.2_Missense_Mutation_p.P504S|PEX5_uc001qsv.3_Missense_Mutation_p.P475S NM_001131026 NP_001124498 P50542 PEX5_HUMAN Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA. 483 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding p.V482L(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 GCGGCTGGACCCTACCTCCAT 0.507000 70 38 0 0 0.00128727 0 0 SP140 11262 broad.mit.edu 37 2 231158985 231158985 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:231158985G>A uc002vql.3 + 21 2084 c.1969_splice c.e21-1 p.N657_splice SP140_uc010zma.1_Splice_Site|SP140_uc002vqn.3_Splice_Site_p.N543_splice|SP140_uc002vqm.3_Splice_Site_p.N597_splice|SP140_uc010fxl.3_Splice_Site_p.N630_splice NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 657 SAND. 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) TTGTCTTTCAGAATGGATTTC 0.383000 29 12 0 0 0.00316338 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307674 39307674 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:39307674G>A uc021wwc.1 - 1 463 c.423C>T c.(421-423)ttC>ttT p.F141F CX3CR1_uc021wwa.1_Silent_p.F109F|CX3CR1_uc021wwb.1_Silent_p.F109F|CX3CR1_uc003cjl.3_Silent_p.F109F|CX3CR1_uc021wwd.1_Silent_p.F109F NM_001171174 NP_001164645 P49238 CX3C1_HUMAN Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA. 109 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) AGCCGATGAAGAAGAAGGCGG 0.483000 24 20 0 0 0.00152264 0 0 NEURL3 93082 broad.mit.edu 37 2 97166176 97166176 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:97166176C>T uc010yuo.2 - 1 585 c.514G>A c.(514-516)Ggt>Agt p.G172S NEURL3_uc010fhx.3_Splice_Site|NEURL3_uc002swc.3_Splice_Site|NEURL3_uc010yup.1_Splice_Site Homo sapiens neuralized homolog 3 (Drosophila) pseudogene (NEURL3), non-coding RNA. GTCGCCTCACCCAGCAGCTCG 0.687000 5 6 0 0 0.00198382 0 0 LYST 1130 broad.mit.edu 37 1 235915467 235915467 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:235915467G>A uc001hxj.2 - 26 7640 c.7465C>T c.(7465-7467)Ccc>Tcc p.P2489S LYST_uc009xga.1_Missense_Mutation_p.P71S NM_000081 NP_000072 Q99698 LYST_HUMAN Homo sapiens lysosomal trafficking regulator (LYST), mRNA. 2489 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding p.I2488V(1) NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TCACTCATGGGAATGCTAAAG 0.308000 39 10 0 0 0.00136819 0 0 REEP2 51308 broad.mit.edu 37 5 137780970 137780970 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:137780970C>T uc003lda.3 + 5 593 c.471C>T c.(469-471)acC>acT p.T157T REEP2_uc003lcz.3_Silent_p.T155T|REEP2_uc011cyt.2_Silent_p.T116T NM_016606 NP_057690 Q9BRK0 REEP2_HUMAN Homo sapiens receptor accessory protein 2 (REEP2), mRNA. 155 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) AGGACCTGACCCTGATCCGGG 0.692000 35 11 0 0 0.00185496 0 0 COL6A6 131873 broad.mit.edu 37 3 130285619 130285619 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:130285619C>T uc010htl.3 + 3 1387 c.1356C>T c.(1354-1356)ttC>ttT p.F452F NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 452 Nonhelical region.|VWFA 3. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CCACAGATTTCCATGAAATGA 0.498000 55 19 0 0 0.00074312 0 0 KIAA0100 9703 broad.mit.edu 37 17 26965341 26965341 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:26965341G>A uc002hbu.3 - 12 1544 c.1441C>T c.(1441-1443)Cag>Tag p.Q481* NM_014680 NP_055495 Q14667 K0100_HUMAN Homo sapiens KIAA0100 (KIAA0100), mRNA. 481 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) GGCGCCCGCTGAATGTGGGAG 0.572000 26 26 0 0 0.00395357 0 0 OR5F1 338674 broad.mit.edu 37 11 55761238 55761238 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:55761238C>T uc010riv.2 - 0 864 c.864G>A c.(862-864)ctG>ctA p.L288L NM_003697 NP_003688 O95221 OR5F1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA. 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) GGCTGTAGATCAGAGGATTCA 0.433000 27 18 0 0 0.00074312 0 0 DPY19L2P3 442524 broad.mit.edu 37 7 29771574 29771574 + RNA SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:29771574C>T uc003tai.3 + 8 c.650C>T Homo sapiens dpy-19-like 2 pseudogene 3 (C. elegans) (DPY19L2P3), transcript variant 1, non-coding RNA. ATGCTGTCTTCGCAGTGCCAT 0.398000 44 22 0 0 0.00278032 0 0 PALB2 79728 broad.mit.edu 37 16 23625360 23625360 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:23625360G>A uc002dlx.1 - 10 3366 c.3166C>T c.(3166-3168)Caa>Taa p.Q1056* NM_024675 NP_078951 Q86YC2 PALB2_HUMAN Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA. 1056 Interaction with RAD51 and BRCA2. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) ACTGAAGCTTGGTAAGAATCA 0.368000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 29 9 0 0 0.00136819 0 0 UST 10090 broad.mit.edu 37 6 149262487 149262487 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:149262487C>T uc003qmg.3 + 2 660 c.364C>T c.(364-366)Ctg>Ttg p.L122L NM_005715 NP_005706 Q9Y2C2 UST_HUMAN Homo sapiens uronyl-2-sulfotransferase (UST), mRNA. 122 protein sulfation Golgi membrane|integral to membrane sulfotransferase activity breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2) 12 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) GGTCTTGCTTCTGAGAATCTT 0.438000 79 34 0 0 0.00327116 0 0 SLU7 10569 broad.mit.edu 37 5 159834755 159834755 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:159834755T>C uc003lyg.3 - 9 1138 c.983A>G c.(982-984)cAg>cGg p.Q328R NM_006425 NP_006416 O95391 SLU7_HUMAN Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA. 328 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1) 20 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACACTTACACTGTGTCTGAGC 0.358000 88 31 0 0 0.00327116 0 0 ATP8B4 79895 broad.mit.edu 37 15 50193395 50193395 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:50193395G>A uc001zxu.3 - 20 2325 c.2183C>T c.(2182-2184)tCc>tTc p.S728F ATP8B4_uc010ber.3_Missense_Mutation_p.S601F|ATP8B4_uc010ufd.2_Missense_Mutation_p.S538F|ATP8B4_uc010ufe.2_Intron|ATP8B4_uc001zxv.1_Missense_Mutation_p.S26F NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 728 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(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ATGGCCATTGGAAAAATTTCT 0.358000 25 16 0 0 0.00400662 0 0 DOPEY2 9980 broad.mit.edu 37 21 37650331 37650331 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:37650331C>T uc002yvg.3 + 28 5850 c.5771C>T c.(5770-5772)cCg>cTg p.P1924L DOPEY2_uc011aeb.2_Missense_Mutation_p.P1873L NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN Homo sapiens dopey family member 2 (DOPEY2), mRNA. 1924 Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 AAAGCTGTGCCGTTAATCTCC 0.448000 74 31 0 0 0.00111076 0 0 RUFY3 22902 broad.mit.edu 37 4 71648890 71648891 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:71648890_71648891CC>TT uc003hfr.3 + 8 1572_1573 c.977_978CC>TT c.(976-978)tcc>tTT p.S326F RUFY3_uc003hfp.4_Missense_Mutation_p.S386F|RUFY3_uc003hfq.3_Missense_Mutation_p.S326F|RUFY3_uc011cax.2_Missense_Mutation_p.S344F|RUFY3_uc011cay.2_Missense_Mutation_p.S262F NM_001037442 NP_001032519 Q7L099 RUFY3_HUMAN Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA. 326 negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) ATACTGGAATCCAATCGGAAGG 0.356000 20 12 0 0 6.4e-05 0 0 MUC17 140453 broad.mit.edu 37 7 100692607 100692607 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:100692607G>A uc003uxp.1 + 5 12719 c.12666G>A c.(12664-12666)atG>atA p.M4222I MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 4222 SEA. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCTTTCAGATGAATATTGTGT 0.577000 117 32 0 0 0.00428921 0 0 CCDC73 493860 broad.mit.edu 37 11 32674768 32674768 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:32674768G>A uc001mtv.3 - 11 884 c.840C>T c.(838-840)atC>atT p.I280I CCDC73_uc001mtw.1_Intron NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA. 280 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) AAGAAATGATGATATCCTTTG 0.303000 43 21 0 0 0.00188189 0 0 ANGPT1 284 broad.mit.edu 37 8 108334231 108334231 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:108334231T>C uc003ymn.3 - 3 1169 c.701A>G c.(700-702)gAa>gGa p.E234G ANGPT1_uc011lhv.2_Missense_Mutation_p.E34G|ANGPT1_uc003ymo.3_Missense_Mutation_p.E234G|ANGPT1_uc003ymp.4_Missense_Mutation_p.E34G NM_001146 NP_001137 Q15389 ANGP1_HUMAN Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA. 234 Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TAATTGCTTTTCCAGCTCCTG 0.428000 65 36 0 0 0.00375469 0 0 ZNF718 255403 broad.mit.edu 37 4 87033 87033 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:87033C>T uc003fzv.1 + 5 1741 c.1585C>T c.(1585-1587)Cgg>Tgg p.R529W ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_Missense_Mutation_p.R315W|ZNF718_uc011but.1_Missense_Mutation_p.R315W NM_182524 NP_872330 Q3SXZ3 ZN718_HUMAN Homo sapiens zinc finger protein 595 (ZNF595), mRNA. 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) AGCCTTTACTCGGTCCACAGC 0.393000 55 21 0 0 0.00229938 0 0 NLRP10 338322 broad.mit.edu 37 11 7982828 7982828 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:7982828C>T uc001mfv.1 - 1 348 c.331G>A c.(331-333)Gaa>Aaa p.E111K NM_176821 NP_789791 Q86W26 NAL10_HUMAN Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA. 111 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCCTGCCATTCCTCTAGGCAG 0.517000 56 19 0 0 0.00278032 0 0 OR4C15 81309 broad.mit.edu 37 11 55322769 55322769 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:55322769C>T uc010rig.2 + 0 987 c.987C>T c.(985-987)atC>atT p.I329I NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA. 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TATTTTATATCATCTTAAATC 0.378000 HNSCC(20;0.049) 46 38 0 0 0.00148497 0 0 DMBT1 1755 broad.mit.edu 37 10 124336154 124336154 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:124336154G>A uc001lgk.1 + 6 629 c.523G>A c.(523-525)Gaa>Aaa p.E175K DMBT1_uc001lgl.1_Missense_Mutation_p.E175K|DMBT1_uc001lgm.1_Missense_Mutation_p.E175K|DMBT1_uc021qaf.1_Missense_Mutation_p.E175K|DMBT1_uc021qag.1_Missense_Mutation_p.E175K|DMBT1_uc021qah.1_Missense_Mutation_p.E175K|DMBT1_uc009xzz.1_Missense_Mutation_p.E175K|DMBT1_uc010qtx.1_Missense_Mutation_p.E175K|DMBT1_uc009yaa.1_Missense_Mutation_p.E27K NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 175 SRCR 1. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CTCAGGACACGAATCCTACCT 0.582000 42 32 0 0 0.00375469 0 0 SLC27A5 10998 broad.mit.edu 37 19 59012663 59012663 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:59012663T>C uc002qtc.2 - 3 1282 c.1172A>G c.(1171-1173)aAc>aGc p.N391S SLC27A5_uc002qtb.3_5'Flank NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA. 391 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) CTGGGGAATGTTACACAAGTA 0.517000 98 57 0 0 0.00361006 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540497 169540497 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:169540497G>A uc003fgb.3 + 0 788 c.788G>A c.(787-789)gGg>gAg p.G263E NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA. 263 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 ACGGAAATCGGGCTGAGCGGG 0.607000 25 6 0 0 0.00198382 0 0 CORO2A 7464 broad.mit.edu 37 9 100888860 100888860 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:100888860C>T uc004aym.3 - 10 1533 c.1417G>A c.(1417-1419)Gaa>Aaa p.E473K CORO2A_uc004ayl.3_Missense_Mutation_p.E473K|CORO2A_uc004ayk.3_Missense_Mutation_p.E120K NM_052820 NP_438171 Q92828 COR2A_HUMAN Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA. 473 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding p.E473K(2)|p.F472F(1)|p.E473D(1) endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) GGGGGGCATTCGAAAACGTCA 0.567000 133 31 0 0 0.00111076 0 0 TSPAN17 26262 broad.mit.edu 37 5 176079893 176079893 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:176079893C>T uc003met.3 + 3 664 c.435C>T c.(433-435)ctC>ctT p.L145L TSPAN17_uc003mes.3_Silent_p.L79L|TSPAN17_uc003meu.3_Silent_p.L145L|TSPAN17_uc003mew.3_Silent_p.L145L NM_012171 NP_036303 Q96FV3 TSN17_HUMAN Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA. 145 integral to membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 13 all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCAGAACCTCATTGACTTTG 0.537000 110 40 0 0 0.00361006 0 0 ANKK1 255239 broad.mit.edu 37 11 113270613 113270613 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:113270613T>A uc001pny.3 + 7 2016 c.1922T>A c.(1921-1923)gTg>gAg p.V641E NM_178510 NP_848605 Q8NFD2 ANKK1_HUMAN Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA. 641 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) GAGGAGGCGGTGGTGTCAGCA 0.627000 11 6 0 0 0.00116845 0 0 B4GALNT3 283358 broad.mit.edu 37 12 665942 665942 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:665942G>A uc001qii.1 + 14 2290 c.2290G>A c.(2290-2292)Gtc>Atc p.V764I B4GALNT3_uc001qik.1_Missense_Mutation_p.V313I NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA. 764 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TAGGAGACAGGTCCTGAATAC 0.647000 20 11 0 0 0.000978159 0 0 PLCZ1 89869 broad.mit.edu 37 12 18852779 18852779 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:18852779C>T uc021qvx.1 - 9 1314 c.1123G>A c.(1123-1125)Gaa>Aaa p.E375K PLCZ1_uc001rdv.4_Missense_Mutation_p.E271K|PLCZ1_uc001rdw.4_Missense_Mutation_p.E116K|PLCZ1_uc001rdu.1_Missense_Mutation_p.E157K|PLCZ1_uc009zil.1_Non-coding_Transcript NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA. 375 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) GAATTATTTTCATTAAATTGC 0.313000 63 27 0 0 0.00127121 0 0 TMEM202 338949 broad.mit.edu 37 15 72700033 72700033 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:72700033G>A uc002auq.3 + 5 620 c.620_splice c.e5-1 p.G207_splice TMEM202_uc002aur.3_Splice_Site NM_001080462 NP_001073931 A6NGA9 TM202_HUMAN Homo sapiens transmembrane protein 202 (TMEM202), mRNA. 207 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 TTCCCGTAGGGATCATCTCTC 0.443000 8 44 0 0 0.00361006 0 0 SLFN13 146857 broad.mit.edu 37 17 33772608 33772608 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:33772608C>T uc002hjk.1 - 0 422 c.92G>A c.(91-93)aGa>aAa p.R31K SLFN13_uc010wch.1_Missense_Mutation_p.R31K|SLFN13_uc002hjl.2_Missense_Mutation_p.R31K|SLFN13_uc002hjm.2_5'UTR|SLFN13_uc010ctt.2_Intron NM_144682 NP_653283 Q68D06 SLN13_HUMAN Homo sapiens schlafen family member 13 (SLFN13), mRNA. 31 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TAGCTTTTTTCTGTTTTCTTC 0.478000 59 44 0 0 0.00285205 0 0 CR1L 1379 broad.mit.edu 37 1 207890857 207890857 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:207890857G>A uc001hga.4 + 10 1584 c.1463G>A c.(1462-1464)gGa>gAa p.G488E CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA. 488 Sushi 8. cytoplasm|extracellular region|membrane p.G488E(1)|p.G488A(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 AGACACACAGGAACTCCCCTT 0.428000 81 28 0 0 0.0024448 0 0 R3HDM1 23518 broad.mit.edu 37 2 136433040 136433040 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:136433040C>T uc002tuo.3 + 18 2556 c.2186C>T c.(2185-2187)tCa>tTa p.S729L R3HDM1_uc010fni.3_Missense_Mutation_p.S728L|R3HDM1_uc002tup.3_Missense_Mutation_p.S674L|R3HDM1_uc010zbh.2_Missense_Mutation_p.S477L NM_015361 NP_056176 Q15032 R3HD1_HUMAN Homo sapiens R3H domain containing 1 (R3HDM1), mRNA. 729 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) CCCTATACTTCAGTGCCAACA 0.418000 68 24 0 0 0.00106085 0 0 BPIFC 254240 broad.mit.edu 37 22 32827390 32827390 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:32827390G>A uc003amn.2 - 10 1161 c.1161C>T c.(1159-1161)acC>acT p.T387T BPIFC_uc010gwo.2_Silent_p.T144T|BPIFC_uc011amb.1_Silent_p.T111T NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN Homo sapiens BPI fold containing family C (BPIFC), mRNA. 387 extracellular region lipopolysaccharide binding|phospholipid binding GGCCAACACTGGTACTAGCAA 0.373000 22 8 0 0 0.000274275 0 0 LILRA1 11024 broad.mit.edu 37 19 55106319 55106319 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55106319C>T uc002qgh.1 + 3 442 c.260C>T c.(259-261)tCc>tTc p.S87F LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.S87F NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 87 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CCCATCCCATCCATCACCTGG 0.562000 60 30 0 0 0.00178596 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800571 185800571 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:185800571G>A uc002uph.3 + 3 1042 c.448G>A c.(448-450)Gaa>Aaa p.E150K NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 150 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 AAACTGTAATGAAATTTCCCA 0.373000 46 14 0 0 0.00244969 0 0 SLC6A13 6540 broad.mit.edu 37 12 369043 369044 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:369043_369044GG>AA uc001qic.2 - 1 265_266 c.175_176CC>TT c.(175-177)ccc>TTc p.P59F SLC6A13_uc009zdj.2_Missense_Mutation_p.P59F|SLC6A13_uc010sdl.2_Missense_Mutation_p.P59F|SLC6A13_uc001qid.2_Missense_Mutation_p.P59F NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA. 59 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) GCAGAGATAGGGAAACCTCCAG 0.564000 91 42 0 0 6.4e-05 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17190814 17190814 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:17190814G>A uc001mmq.4 - 0 540 c.475C>T c.(475-477)Cct>Tct p.P159S PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Missense_Mutation_p.P159S|PIK3C2A_uc009ygv.1_Missense_Mutation_p.P159S NM_002645 NP_002636 O00443 P3C2A_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA. 159 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) TAAGTAGAAGGATAAATAGAA 0.418000 58 24 0 0 0.000878237 0 0 PCDH15 65217 broad.mit.edu 37 10 55568613 55568613 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:55568613C>T uc021pqw.1 - 35 5601 c.5206G>A c.(5206-5208)Gaa>Aaa p.E1736K PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Missense_Mutation_p.E1731K|PCDH15_uc021pqx.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA. 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.A1735A(2) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TCCTCACTTTCCACACCTCCT 0.507000 HNSCC(58;0.16) 5 6 0 0 0.00307968 0 0 TBCK 93627 broad.mit.edu 37 4 107165818 107165818 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:107165818G>A uc010ilv.2 - 10 1400 c.1035C>T c.(1033-1035)atC>atT p.I345I TBCK_uc003hyb.2_Silent_p.I88I|TBCK_uc003hye.2_Silent_p.I306I|TBCK_uc003hyc.2_Silent_p.I282I|TBCK_uc003hyd.2_Silent_p.I173I|TBCK_uc003hyf.2_Silent_p.I345I NM_001163435 NP_001156908 Q8TEA7 TBCK_HUMAN Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA. 345 intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 TGGATCGAATGATTTCCTTGT 0.358000 74 45 0 0 0.00361006 0 0 DDX60 55601 broad.mit.edu 37 4 169195106 169195106 + Silent SNP G A A rs138638907 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:169195106G>A uc003irp.3 - 16 2725 c.2433C>T c.(2431-2433)gtC>gtT p.V811V NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 811 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding p.V811V(3) breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CAACGTACACGACCACCCCGT 0.453000 57 32 0 0 0.00111076 0 0 MTHFD2L 441024 broad.mit.edu 37 4 75167443 75167443 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:75167443C>T uc011cbk.2 + 7 988 c.961C>T c.(961-963)Cca>Tca p.P321S MTHFD2L_uc003hhu.3_Non-coding_Transcript|BC016361_uc003hhv.1_Intron NM_001144978 NP_001138450 Q9H903 MTD2L_HUMAN Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA. 263 folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2) 8 all cancers(17;0.0101)|Lung(101;0.196) CTTTATCACTCCAGTTCCAGG 0.343000 41 21 0 0 0.00332997 0 0 GPR112 139378 broad.mit.edu 37 X 135429748 135429748 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:135429748G>A uc004ezu.1 + 5 4174 c.3883G>A c.(3883-3885)Gaa>Aaa p.E1295K GPR112_uc010nsb.1_Missense_Mutation_p.E1090K|GPR112_uc010nsc.1_Missense_Mutation_p.E1062K NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 1295 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TCCATCTTTGGAAATGACAGA 0.433000 16 27 0 0 0.000878237 0 0 COL11A1 1301 broad.mit.edu 37 1 103352381 103352381 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:103352381G>A uc001dum.3 - 62 5194 c.4876C>T c.(4876-4878)Cat>Tat p.H1626Y COL11A1_uc001duk.3_Missense_Mutation_p.H810Y|COL11A1_uc001dul.3_Missense_Mutation_p.H1614Y|COL11A1_uc001dun.3_Missense_Mutation_p.H1575Y|COL11A1_uc009weh.3_Missense_Mutation_p.H1498Y NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1614 Fibrillar collagen NC1. 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 p.H1626N(2)|p.H1614N(1) 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) AAGTCAGGATGGCTGAGTTGC 0.438000 154 31 0 0 0.0024448 0 0 IQCA1 79781 broad.mit.edu 37 2 237246975 237246975 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:237246975C>T uc002vwb.2 - 16 2065 c.2031G>A c.(2029-2031)ctG>ctA p.L677L IQCA1_uc002vvz.1_Silent_p.L669L|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.L628L NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA. 669 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 CATCTGGTTTCAGGAGTTTCA 0.413000 63 22 0 0 0.000878237 0 0 FGF13 2258 broad.mit.edu 37 X 137715134 137715134 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:137715134C>T uc004fam.3 - 4 1277 c.615G>A c.(613-615)aaG>aaA p.K205K FGF13_uc004fan.3_Silent_p.K152K|FGF13_uc011mwi.2_Silent_p.K186K|FGF13_uc004faq.3_Silent_p.K215K|FGF13_uc004far.3_Silent_p.K186K|FGF13_uc011mwj.2_Silent_p.K215K|FGF13_uc011mwk.2_Silent_p.K159K NM_004114 NP_004105 Q92913 FGF13_HUMAN Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA. 205 MAPKKK cascade|cell-cell signaling|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) GTGATGGCTCCTTGTACATGG 0.478000 10 18 0 0 0.00121646 0 0 KIAA1704 55425 broad.mit.edu 37 13 45582997 45582997 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:45582997G>A uc001uzq.3 + 3 494 c.391G>A c.(391-393)Gat>Aat p.D131N KIAA1704_uc010tfo.1_Non-coding_Transcript|KIAA1704_uc001uzr.1_Missense_Mutation_p.D131N|KIAA1704_uc001uzs.3_5'UTR|KIAA1704_uc001uzt.3_5'UTR NM_018559 NP_061029 Q8IXQ4 K1704_HUMAN Homo sapiens KIAA1704 (KIAA1704), mRNA. 131 breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) CAAGGGCAGAGATGATCCAGG 0.363000 29 11 0 0 0.00316338 0 0 ZAN 7455 broad.mit.edu 37 7 100350287 100350287 + Silent SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:100350287C>A uc003uwj.3 + 13 2724 c.2559C>A c.(2557-2559)tcC>tcA p.S853S ZAN_uc003uwk.3_Silent_p.S853S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 853 66 X heptapeptide repeats (approximate) (mucin-like domain). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCACCATCTCCACAGAAAAAC 0.493000 69 30 4.65686e-17 1.47105e-16 0.00375469 1 0 IGFBP3 3486 broad.mit.edu 37 7 45954538 45954538 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:45954538G>A uc003tnr.3 - 3 907 c.775C>T c.(775-777)Cct>Tct p.P259S IGFBP3_uc003tnq.3_Non-coding_Transcript|IGFBP3_uc003tns.3_Missense_Mutation_p.P253S|IGFBP3_uc003tnt.3_Missense_Mutation_p.P156S NM_001013398 NP_001013416 P17936 IBP3_HUMAN Homo sapiens insulin-like growth factor binding protein 3 (IGFBP3), transcript variant 1, mRNA. 253 Thyroglobulin type-1. negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth nucleus insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity large_intestine(6)|lung(7)|pancreas(1)|prostate(3) 17 Mecasermin(DB01277) CCTTTGGAAGGGCGACACTGT 0.587000 29 20 0 0 0.00395357 0 0 C1orf173 127254 broad.mit.edu 37 1 75037470 75037470 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:75037470C>T uc001dgg.3 - 13 4143 c.3924G>A c.(3922-3924)gcG>gcA p.A1308A NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 1308 Glu-rich. p.A1308V(1) 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 TGTCCTGCATCGCTTCTGTCT 0.542000 121 41 0 0 0.00285205 0 0 FAT3 120114 broad.mit.edu 37 11 92085510 92085510 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:92085510G>A uc001pdj.4 + 0 249 c.232G>A c.(232-234)Gat>Aat p.D78N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 78 Cadherin 1. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCTATCCTGGGATATCAAATA 0.413000 TCGA Ovarian(4;0.039) 215 173 0 0 0.00361006 0 0 DARC 2532 broad.mit.edu 37 1 159176211 159176211 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:159176211C>T uc001ftp.4 + 0 1163 c.988C>T c.(988-990)Cat>Tat p.H330Y DARC_uc001fto.3_Missense_Mutation_p.H328Y NM_001122951 NP_001116423 Q16570 DUFFY_HUMAN Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA. 328 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) ATGGTCTTCTCATCTGGACAC 0.537000 186 73 0 0 0.00361006 0 0 LRRN1 57633 broad.mit.edu 37 3 3888296 3888296 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:3888296G>A uc003bpt.4 + 1 2732 c.1971G>A c.(1969-1971)aaG>aaA p.K657K SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.K657K NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA. 657 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) AAAGATTTAAGAGAAAAAACT 0.423000 20 16 0 0 0.000566183 0 0 SLC12A8 84561 broad.mit.edu 37 3 124896669 124896669 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:124896669G>A uc003ehw.4 - 4 697 c.627C>T c.(625-627)atC>atT p.I209I SLC12A8_uc003ehv.4_Silent_p.I180I|SLC12A8_uc010hrz.1_Silent_p.I45I NM_024628 NP_078904 A0AV02 S12A8_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA. 180 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 GCTGGAGGCGGATTATCCATT 0.557000 34 10 0 0 0.00136819 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247385 142247385 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:142247385G>A uc003vyd.4 - 1 96 c.71C>T c.(70-72)tCc>tTc p.S24F TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron SubName: Full=V_segment translation product; Flags: Fragment; GGGGGTCTGGGAGACTCCAGC 0.478000 35 11 0 0 0.00136819 0 0 OMA1 115209 broad.mit.edu 37 1 59002382 59002382 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:59002382G>A uc001cyy.3 - 2 620 c.532C>T c.(532-534)Cct>Tct p.P178S DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.P178S|OMA1_uc009vzz.3_Missense_Mutation_p.P178S NM_145243 NP_660286 Q96E52 OMA1_HUMAN Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA. 178 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1) 18 all_cancers(7;6.54e-05) TTCTTGTTAGGAGGAAGTGCC 0.348000 106 30 0 0 0.00327116 0 0 CBX7 23492 broad.mit.edu 37 22 39530027 39530028 + Missense_Mutation DNP GG AA AA rs148637787 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:39530027_39530028GG>AA uc003axb.3 - 5 713_714 c.624_625CC>TT c.(622-627)ccccct>ccTTct p.P209S CBX7_uc003axc.3_Missense_Mutation_p.P116S NM_175709 NP_783640 O95931 CBX7_HUMAN Homo sapiens chromobox homolog 7 (CBX7), mRNA. 209 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex|nuclear chromatin p.P208A(1) endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Melanoma(58;0.04) GTCCAGGGAGGGGGCCCCTCGG 0.663000 52 20 0 0 6.4e-05 0 0 PNMA5 114824 broad.mit.edu 37 X 152159968 152159968 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:152159968C>T uc022chn.1 - 0 175 c.175G>A c.(175-177)Gaa>Aaa p.E59K PNMA5_uc010ntx.3_Missense_Mutation_p.E59K|PNMA5_uc010ntw.3_Missense_Mutation_p.E59K|PNMA5_uc004fgy.4_Missense_Mutation_p.E59K|PNMA5_uc022chm.1_Missense_Mutation_p.E59K NM_052926 NP_443158 Q96PV4 PNMA5_HUMAN Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA. 59 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) gcattgtcttccctcctgaac 0.527000 15 44 0 0 0.0025221 0 0 CACNA1C 775 broad.mit.edu 37 12 2714944 2714944 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:2714944C>T uc009zdu.1 + 24 3521 c.3208C>T c.(3208-3210)Ctc>Ttc p.L1070F CACNA1C_uc001qkc.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qjz.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkd.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qke.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkf.2_Missense_Mutation_p.L1050F|CACNA1C_uc009zdw.1_Missense_Mutation_p.L1050F|CACNA1C_uc001qkg.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkh.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkl.2_Missense_Mutation_p.L1070F|CACNA1C_uc001qkj.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkk.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkn.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkm.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qko.2_Missense_Mutation_p.L1070F|CACNA1C_uc001qkp.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkq.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qku.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkr.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qks.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkt.2_Missense_Mutation_p.L1050F|CACNA1C_uc009zdv.1_Missense_Mutation_p.L1047F|CACNA1C_uc001qkb.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qka.1_Missense_Mutation_p.L585F|CACNA1C_uc001qki.1_Missense_Mutation_p.L786F NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 1070 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) CGGGGTCCAGCTCTTCAAGGT 0.547000 27 6 0 0 0.00116845 0 0 FAM126B 285172 broad.mit.edu 37 2 201846103 201846103 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:201846103C>T uc002uws.4 - 11 1671 c.1483G>A c.(1483-1485)Gac>Aac p.D495N FAM126B_uc002uwu.3_Missense_Mutation_p.D469N|FAM126B_uc002uwv.3_Missense_Mutation_p.D495N NM_173822 NP_776183 Q8IXS8 F126B_HUMAN Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA. 495 intracellular endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 CCTAGCCGGTCTTCCTGCAGA 0.512000 25 12 0 0 0.000978159 0 0 ENPEP 2028 broad.mit.edu 37 4 111470877 111470877 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:111470877C>T uc003iab.4 + 16 2678 c.2336C>T c.(2335-2337)cCc>cTc p.P779L NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 779 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TCTAGCCTTCCCGTAAATCTC 0.398000 49 22 0 0 0.00395357 0 0 UBXN7 26043 broad.mit.edu 37 3 196096312 196096312 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:196096312G>A uc003fwm.4 - 6 761 c.686C>T c.(685-687)tCc>tTc p.S229F UBXN7_uc003fwn.4_Missense_Mutation_p.S81F|UBXN7_uc010iae.3_Missense_Mutation_p.S67F NM_015562 NP_056377 O94888 UBXN7_HUMAN Homo sapiens UBX domain protein 7 (UBXN7), mRNA. 229 protein binding p.S229S(1) NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GTCCAATATGGAAACATAGGG 0.333000 43 13 0 0 0.00316338 0 0 TTC16 158248 broad.mit.edu 37 9 130482669 130482669 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:130482669C>T uc004brq.1 + 5 719 c.652C>T c.(652-654)Cag>Tag p.Q218* PTRH1_uc011mah.2_Intron|TTC16_uc011mai.1_Nonsense_Mutation_p.Q205*|TTC16_uc004brr.1_Nonsense_Mutation_p.Q163*|TTC16_uc010mxn.1_5'UTR NM_144965 NP_659402 Q8NEE8 TTC16_HUMAN Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA. 218 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 CAACTTTCTCCAGAAGGTACA 0.612000 44 44 0 0 0.00361006 0 0 KIAA0754 643314 broad.mit.edu 37 1 39879626 39879626 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:39879626C>T uc009vvt.1 + 0 4451 c.3689C>T c.(3688-3690)tCc>tTc p.S1230F MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN Homo sapiens KIAA0754 (KIAA0754), mRNA. 1094 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAGCCTGCCTCCCTAGCAGCT 0.647000 10 3 0 0 6.4e-05 0 0 LRRC46 90506 broad.mit.edu 37 17 45914246 45914246 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:45914246G>A uc002ima.3 + 7 1089 c.726G>A c.(724-726)gtG>gtA p.V242V LRRC46_uc002imb.3_Silent_p.V195V NM_033413 NP_219481 Q96FV0 LRC46_HUMAN Homo sapiens leucine rich repeat containing 46 (LRRC46), mRNA. 242 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 9 TACCTGGGGTGCCCATGGCTG 0.672000 52 16 0 0 0.00188189 0 0 ERC2 26059 broad.mit.edu 37 3 56044485 56044485 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:56044485C>T uc021wzo.1 - 7 2052 c.1912G>A c.(1912-1914)Gag>Aag p.E638K ERC2_uc003dhr.1_Missense_Mutation_p.E638K|ERC2_uc003dht.1_Missense_Mutation_p.E109K NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 638 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) ACCTCTTTCTCAGTCAGTTCA 0.408000 38 31 0 0 0.00327116 0 0 ZNF16 7564 broad.mit.edu 37 8 146157923 146157923 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:146157923C>T uc003zet.3 - 3 437 c.250G>A c.(250-252)Gaa>Aaa p.E84K ZNF16_uc003zeu.3_Missense_Mutation_p.E84K NM_001029976 NP_008889 P17020 ZNF16_HUMAN Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA. 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E84K(2) breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) TCCAAATCTTCATGAATGTCT 0.423000 50 27 0 0 0.000878237 0 0 PLCH1 23007 broad.mit.edu 37 3 155303856 155303856 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:155303856G>A uc021xge.1 - 3 839 c.562C>T c.(562-564)Cag>Tag p.Q188* PLCH1_uc021xgd.1_Nonsense_Mutation_p.Q188*|PLCH1_uc021xgf.1_Nonsense_Mutation_p.Q170* NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 188 EF-hand 2. 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) AAACTTACCTGAAACATTTGT 0.333000 73 27 0 0 0.00127121 0 0 GRIK3 2899 broad.mit.edu 37 1 37307518 37307518 + Missense_Mutation SNP C T T rs115314874 by1000genomes TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:37307518C>T uc001caz.2 - 9 1484 c.1349G>A c.(1348-1350)cGg>cAg p.R450Q GRIK3_uc001cba.1_Missense_Mutation_p.R450Q NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 450 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 G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.R450W(2) 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) GTCTGATTTCCGAAACATGAC 0.572000 80 61 0 0 0.00361006 0 0 ADCY8 114 broad.mit.edu 37 8 131916162 131916162 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:131916162C>T uc003ytd.4 - 6 2023 c.1767G>A c.(1765-1767)caG>caA p.Q589Q ADCY8_uc010mds.3_Silent_p.Q589Q NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 589 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) TGTCCTCAGGCTGCTTAATTA 0.478000 HNSCC(32;0.087) 80 32 0 0 0.00178596 0 0 MAGEA5 4104 broad.mit.edu 37 X 151283782 151283782 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:151283782G>A uc004ffj.3 - 2 403 c.231C>T c.(229-231)ttC>ttT p.F77F MAGEA5_uc022cgy.1_Silent_p.F77F NM_021049 NP_066387 P43359 MAGA5_HUMAN Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA. 77 MAGE. p.D76N(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Acute lymphoblastic leukemia(192;6.56e-05) TCCATAGAGTGAAATCGATGG 0.607000 18 27 0 0 0.000878237 0 0 ZNF705B 100132396 broad.mit.edu 37 8 7806666 7806666 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:7806666G>A uc010lro.1 + 3 310 c.28G>A c.(28-30)Gaa>Aaa p.E10K NM_001193630 NP_001180559 P0CI00 Z705L_HUMAN Homo sapiens zinc finger protein 705D-like (LOC100132396), mRNA. 10 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding kidney(2)|lung(2) 4 AGTGACTTTTGAAGATGTAGC 0.408000 75 41 0 0 0.00361006 0 0 SSTR5 6755 broad.mit.edu 37 16 1129186 1129186 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:1129186C>T uc021taf.1 + 1 389 c.318C>T c.(316-318)ccC>ccT p.P106P LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.P106P NM_001172560 NP_001166031 P35346 SSR5_HUMAN Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA. 106 negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) CCTTCTGGCCCTTCGGCCCCG 0.627000 24 16 0 0 0.000958276 0 0 HOXB1 3211 broad.mit.edu 37 17 46608054 46608054 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:46608054G>A uc002ink.1 - 0 219 c.213C>T c.(211-213)acC>acT p.T71T HOXB1_uc021tzf.1_Silent_p.T71T NM_002144 NP_002135 P14653 HXB1_HUMAN Homo sapiens homeobox B1 (HOXB1), mRNA. 71 T -> N (in dbSNP:rs35254561). nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GCACCCCCAGGGTCGAAGGCG 0.677000 22 24 0 0 0.00395357 0 0 ATAD2B 54454 broad.mit.edu 37 2 23977110 23977110 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:23977110G>A uc002rek.4 - 26 4570 c.4274C>T c.(4273-4275)tCt>tTt p.S1425F ATAD2B_uc002rei.4_Missense_Mutation_p.S1420F|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc002rej.4_Missense_Mutation_p.S593F NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA. 1425 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACTAAGAAGAGAATATAATCT 0.308000 4 8 0 0 0.000442599 0 0 NEIL2 252969 broad.mit.edu 37 8 11637335 11637335 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:11637335C>T uc003wug.2 + 2 1042 c.367C>T c.(367-369)Cct>Tct p.P123S NEIL2_uc003wue.2_Missense_Mutation_p.P123S|NEIL2_uc003wuf.2_Missense_Mutation_p.P62S|NEIL2_uc011kxd.1_Intron NM_145043 NP_001129219 Q969S2 NEIL2_HUMAN Homo sapiens nei endonuclease VIII-like 2 (E. coli) (NEIL2), transcript variant 1, mRNA. 123 base-excision repair|nucleotide-excision repair nucleus DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) GAGAGACGCCCCTGCAGGAGA 0.587000 Base excision repair (BER), DNA glycosylases 47 15 0 0 0.00400662 0 0 SPOCD1 90853 broad.mit.edu 37 1 32259468 32259468 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:32259468G>A uc001bts.1 - 11 2472 c.2414C>T c.(2413-2415)tCc>tTc p.S805F SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btu.3_Missense_Mutation_p.S805F|SPOCD1_uc001btv.3_Missense_Mutation_p.S298F|SPOCD1_uc021oks.1_Missense_Mutation_p.S110F NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA. 805 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) GGCTTCGAAGGAGCCTAGCAG 0.572000 98 62 0 0 0.00361006 0 0 GABRA4 2557 broad.mit.edu 37 4 46930372 46930372 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:46930372C>T uc003gxg.3 - 8 2518 c.1535G>A c.(1534-1536)gGa>gAa p.G512E GABRA4_uc021xnz.1_Missense_Mutation_p.G493E|GABRA4_uc021xoa.1_Missense_Mutation_p.G442E NM_000809 NP_000800 P48169 GBRA4_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA. 512 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGTGCCAGATCCAGAAGGTGG 0.433000 93 39 0 0 0.00321405 0 0 FAAH2 158584 broad.mit.edu 37 X 57473399 57473399 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:57473399G>A uc004dvc.3 + 8 1304 c.1155G>A c.(1153-1155)ggG>ggA p.G385G NM_174912 NP_777572 Q6GMR7 FAAH2_HUMAN Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA. 385 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 GTGACCATGGGAAACATGTCA 0.393000 HNSCC(52;0.14) 6 16 0 0 0.00400662 0 0 FGL2 10875 broad.mit.edu 37 7 76828852 76828852 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:76828852C>T uc003ugb.3 - 0 299 c.259G>A c.(259-261)Gaa>Aaa p.E87K CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron NM_006682 NP_006673 Q14314 FGL2_HUMAN Homo sapiens fibrinogen-like 2 (FGL2), mRNA. 87 signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 TTTACGATTTCCTTGAGGTTT 0.507000 51 18 0 0 0.000958276 0 0 CENPQ 55166 broad.mit.edu 37 6 49459879 49459879 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:49459879C>T uc003ozh.1 + 8 787 c.698C>T c.(697-699)cCa>cTa p.P233L NM_018132 NP_060602 Q7L2Z9 CENPQ_HUMAN Homo sapiens centromere protein Q (CENPQ), mRNA. 233 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1) 11 Lung NSC(77;0.0128) GCGCTAATTCCAAACCAGAAT 0.328000 29 13 0 0 0.00400662 0 0 KCNA6 3742 broad.mit.edu 37 12 4919936 4919936 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:4919936G>A uc001qng.3 + 0 1595 c.729G>A c.(727-729)atG>atA p.M243I KCNA6_uc021qtr.1_Missense_Mutation_p.M243I NM_002235 NP_002226 P17658 KCNA6_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA. 243 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CTGGGGAAATGGGGACCGGGG 0.547000 HNSCC(72;0.22) 51 27 0 0 0.00178596 0 0 MRGPRE 116534 broad.mit.edu 37 11 3249748 3249748 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:3249748G>A uc021qcj.1 - 0 279 c.279C>T c.(277-279)ttC>ttT p.F93F MRGPRE_uc001lxq.4_Silent_p.F93F NM_001039165 NP_001034254 Q86SM8 MRGRE_HUMAN Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA. 93 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGTCTGCACGAAGCCCGGGA 0.662000 29 7 0 0 0.00307968 0 0 ACOT11 26027 broad.mit.edu 37 1 55063089 55063089 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:55063089G>A uc001cxm.2 + 7 940 c.764_splice c.e7+1 p.S255_splice ACOT11_uc001cxj.2_Splice_Site_p.S133_splice|ACOT11_uc001cxk.3_Silent_p.R221R|ACOT11_uc001cxl.2_Splice_Site_p.S255_splice NM_015547 NP_056362 Q8WXI4 ACO11_HUMAN Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA. 255 Acyl coenzyme A hydrolase 2. S -> R (in Ref. 7; AAH01517). fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 TTGCAGCCAGGTGAGGGCAGG 0.632000 8 4 0 0 0.000602214 0 0 RDH5 5959 broad.mit.edu 37 12 56117672 56117672 + Missense_Mutation SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:56117672G>T uc001shk.3 + 3 755 c.572G>T c.(571-573)cGg>cTg p.R191L RDH5_uc021qyt.1_Missense_Mutation_p.R54L|RDH5_uc001shl.3_Missense_Mutation_p.R191L NM_002905 NP_002896 Q92781 RDH1_HUMAN Homo sapiens retinol dehydrogenase 5 (11-cis/9-cis) (RDH5), transcript variant 2, mRNA. 191 response to stimulus|visual perception membrane binding|retinol dehydrogenase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1) 12 NADH(DB00157)|Vitamin A(DB00162) GACTCTAGGCGGGATGTAGCT 0.567000 51 6 0.00307968 0.00956451 0.00307968 1 0 MLF1 4291 broad.mit.edu 37 3 158310243 158310243 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:158310243G>A uc003fcc.3 + 2 479 c.116G>A c.(115-117)cGa>cAa p.R39Q MLF1_uc003fbx.3_5'UTR|MLF1_uc003fbz.3_5'UTR|MLF1_uc003fca.3_5'UTR|MLF1_uc003fcb.3_Missense_Mutation_p.R23Q|MLF1_uc010hvx.3_5'UTR|MLF1_uc003fby.3_5'UTR NM_001195432 NP_001182361 P58340 MLF1_HUMAN Homo sapiens myeloid leukemia factor 1 (MLF1), transcript variant 4, mRNA. 23 cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein domain specific binding large_intestine(3) 3 Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299) Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256) CTTGCACACCGAGAAAATATG 0.363000 T NPM1 AML 38 14 0 0 0.000958276 0 0 UNC45B 146862 broad.mit.edu 37 17 33477204 33477204 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:33477204G>A uc002hja.3 + 3 440 c.343G>A c.(343-345)Gag>Aag p.E115K UNC45B_uc002hjb.3_Missense_Mutation_p.E115K|UNC45B_uc002hjc.3_Missense_Mutation_p.E115K|UNC45B_uc010cto.3_Missense_Mutation_p.E115K NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA. 115 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) GAACTTCCAGGAGATGCTGAG 0.597000 73 27 0 0 0.00209593 0 0 TAS2R14 50840 broad.mit.edu 37 12 11091063 11091063 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:11091063G>A uc010shi.2 - 0 744 c.744C>T c.(742-744)ttC>ttT p.F248F PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Non-coding_Transcript NM_023922 NP_076411 Q9NYV8 T2R14_HUMAN Homo sapiens taste receptor, type 2, member 14 (TAS2R14), mRNA. 248 detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 8 AAACTGATATGAAAAAAGACA 0.418000 55 30 0 0 0.00209593 0 0 ESYT1 23344 broad.mit.edu 37 12 56527655 56527655 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:56527655C>T uc001sjr.3 + 12 1589 c.1471C>T c.(1471-1473)Cct>Tct p.P491S ESYT1_uc001sjq.3_Missense_Mutation_p.P491S NM_001184796 NP_001171725 Q9BSJ8 ESYT1_HUMAN Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA. 491 C2 2. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 CCAGGATCTTCCTGTGAGTTT 0.562000 49 27 0 0 0.00209593 0 0 YTHDC2 64848 broad.mit.edu 37 5 112888986 112888986 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:112888986C>T uc003kqn.3 + 12 1999 c.1797C>T c.(1795-1797)ttC>ttT p.F599F YTHDC2_uc010jce.2_Silent_p.F599F|YTHDC2_uc010jcf.2_Silent_p.F299F NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN Homo sapiens YTH domain containing 2 (YTHDC2), mRNA. 599 ATP binding|ATP-dependent helicase activity|nucleic acid binding p.S598T(1) NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) ATCATAGTTTCGATGATGAAA 0.378000 36 9 0 0 0.000442599 0 0 PIGV 55650 broad.mit.edu 37 1 27121059 27121059 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:27121059C>T uc001bmz.3 + 2 897 c.534C>T c.(532-534)ttC>ttT p.F178F PIGV_uc001bna.3_Silent_p.F178F|PIGV_uc010ofg.2_Intron NM_017837 NP_060307 Q9NUD9 PIGV_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA. 178 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 14 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) TCCTGACATTCAGTGCCATGG 0.562000 61 21 0 0 0.00188189 0 0 PHC3 80012 broad.mit.edu 37 3 169846476 169846476 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:169846476G>A uc003fgl.2 - 7 1818 c.1784C>T c.(1783-1785)cCa>cTa p.P595L PHC3_uc010hws.1_Missense_Mutation_p.P583L|PHC3_uc011bpq.1_Missense_Mutation_p.P542L|PHC3_uc011bpr.1_Missense_Mutation_p.P509L NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA. 583 Pro-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GCTTACCACTGGTGGATCAAC 0.448000 19 20 0 0 0.00188189 0 0 GLT25D2 23127 broad.mit.edu 37 1 183909790 183909790 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:183909790A>G uc001gqr.3 - 10 1901 c.1529T>C c.(1528-1530)cTg>cCg p.L510P GLT25D2_uc010poj.1_Missense_Mutation_p.L510P|GLT25D2_uc001gqp.3_Missense_Mutation_p.L118P|GLT25D2_uc001gqq.3_Missense_Mutation_p.L247P|GLT25D2_uc001gqs.3_Missense_Mutation_p.L390P NM_015101 NP_055916 Q8IYK4 GT252_HUMAN Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA. 510 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2) 31 GGCTCCAACCAGCTTCTGTGC 0.542000 66 29 0 0 0.00127121 0 0 STYK1 55359 broad.mit.edu 37 12 10774522 10774522 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:10774522G>A uc001qys.2 - 9 1538 c.1017C>T c.(1015-1017)ctC>ctT p.L339L NM_018423 NP_060893 Q6J9G0 STYK1_HUMAN Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA. 339 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 TCCTTCTTTGGAGATGCTCTA 0.428000 HNSCC(73;0.22) 72 47 0 0 0.00361006 0 0 IKZF1 10320 broad.mit.edu 37 7 50444268 50444268 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:50444268G>A uc003tow.4 + 3 353 c.198G>A c.(196-198)gaG>gaA p.E66E IKZF1_uc022acq.1_Silent_p.E66E|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Intron|IKZF1_uc022acu.1_Intron|IKZF1_uc003tox.4_Silent_p.E66E|IKZF1_uc022acv.1_Intron|IKZF1_uc022acw.1_Intron|IKZF1_uc022acx.1_Silent_p.E66E|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Intron|IKZF1_uc003toy.4_Silent_p.E66E|IKZF1_uc003toz.4_Silent_p.E36E|IKZF1_uc010kyx.3_Intron NM_006060 NP_006051 Q13422 IKZF1_HUMAN Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA. 66 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GTGATGAAGAGAATGGGCGTG 0.443000 """D,T""" BCL6 """ALL, DLBCL""" 72 27 0 0 0.00106085 0 0 SLC44A5 204962 broad.mit.edu 37 1 75805292 75805292 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:75805292C>T uc010oqz.1 - 2 259 c.193G>A c.(193-195)Gat>Aat p.D65N SLC44A5_uc001dgt.2_Missense_Mutation_p.D26N|SLC44A5_uc001dgs.2_5'UTR|SLC44A5_uc001dgr.2_5'UTR|SLC44A5_uc001dgu.3_Missense_Mutation_p.D26N|SLC44A5_uc010ora.2_Missense_Mutation_p.D20N|SLC44A5_uc010orb.2_5'UTR NM_001130058 NP_001123530 Q8NCS7 CTL5_HUMAN Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA. 26 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 CCCTTGAAATCTGGGTCATAT 0.348000 242 226 0 0 0.00361006 0 0 GARNL3 84253 broad.mit.edu 37 9 130098439 130098439 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:130098439C>T uc011mae.2 + 10 1307 c.906C>T c.(904-906)atC>atT p.I302I GARNL3_uc011mad.2_Silent_p.I280I|GARNL3_uc004bqt.1_Silent_p.I83I NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA. 302 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity p.S302S(1)|p.I284I(1) NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 GAAACGATATCGTCACCATTG 0.433000 39 36 0 0 0.00195071 0 0 PTPRB 5787 broad.mit.edu 37 12 70946612 70946612 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:70946612C>T uc001swb.4 - 18 4708 c.4678G>A c.(4678-4680)Gat>Aat p.D1560N PTPRB_uc010sto.2_Missense_Mutation_p.D1470N|PTPRB_uc010stp.2_Missense_Mutation_p.D1470N|PTPRB_uc001swc.4_Missense_Mutation_p.D1778N|PTPRB_uc001swa.4_Missense_Mutation_p.D1690N NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1560 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGAGTGGGATCGCATTTTCCA 0.423000 36 14 0 0 0.00185496 0 0 TSHZ1 10194 broad.mit.edu 37 18 72997752 72997752 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:72997752C>T uc002lly.3 + 1 818 c.255C>T c.(253-255)tcC>tcT p.S85S TSHZ1_uc021uln.1_Silent_p.S85S NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA. 130 Ser-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CCTGCTGGTCCAGCTTAGCTC 0.602000 31 8 0 0 0.00307968 0 0 BRAT1 221927 broad.mit.edu 37 7 2583225 2583225 + Splice_Site SNP G A A rs145047426 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:2583225G>A uc003smi.3 - 5 1091 c.803_splice c.e5+1 p.R268_splice BRAT1_uc003smh.4_5'Flank|BRAT1_uc021zyz.1_Missense_Mutation_p.R93W|BRAT1_uc003smj.2_Missense_Mutation_p.R268W NM_152743 NP_689956 Q6PJG6 BRAT1_HUMAN Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA. 268 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 GGCCCTGACCGAGCCACACAG 0.677000 41 12 0 0 0.00316338 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123301373 123301373 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:123301373C>T uc004bkf.3 - 5 634 c.453G>A c.(451-453)aaG>aaA p.K151K CDK5RAP2_uc004bkg.3_Silent_p.K151K|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Silent_p.K151K|CDK5RAP2_uc004bki.3_5'Flank NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA. 151 G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 GCTGCACCTTCTTTCGAGCAT 0.458000 167 52 0 0 0.00361006 0 0 ODZ1 10178 broad.mit.edu 37 X 123539077 123539077 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:123539077G>A uc010nqy.3 - 26 5259 c.5195C>T c.(5194-5196)tCc>tTc p.S1732F ODZ1_uc011muj.2_Missense_Mutation_p.S1731F|ODZ1_uc004euj.3_Missense_Mutation_p.S1725F NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 1725 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 GACACGCAGGGAACCATCTGG 0.537000 10 23 0 0 0.00278032 0 0 FRY 10129 broad.mit.edu 37 13 32802675 32802675 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:32802675C>T uc001utx.3 + 39 5785 c.5289C>T c.(5287-5289)atC>atT p.I1763I FRY_uc010tdw.2_Non-coding_Transcript NM_023037 NP_075463 Q5TBA9 FRY_HUMAN Homo sapiens furry homolog (Drosophila) (FRY), mRNA. 1763 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCTCTAGCATCAGTCTGGGAG 0.542000 82 35 0 0 0.00283554 0 0 STXBP5L 9515 broad.mit.edu 37 3 121097680 121097680 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:121097680G>A uc003eec.4 + 21 2506 c.2366G>A c.(2365-2367)cGa>cAa p.R789Q STXBP5L_uc011bji.2_Missense_Mutation_p.R765Q NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 789 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane p.R789*(1) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CCACCATTTCGAAAGGCCCAG 0.398000 31 10 0 0 0.00136819 0 0 ERICH1 157697 broad.mit.edu 37 8 614674 614675 + Splice_Site DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:614674_614675GG>AA uc003wph.3 - 6 1324 c.1259_splice c.e6-1 p.D420_splice NM_207332 NP_997215 Q86X53 ERIC1_HUMAN Homo sapiens glutamate-rich 1 (ERICH1), mRNA. 420 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) ACTCTGGCATGGTCTAGAAAGC 0.347000 77 24 0 0 6.4e-05 0 0 C16orf92 146378 broad.mit.edu 37 16 30035385 30035385 + Missense_Mutation SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:30035385C>A uc002dvr.2 + 2 296 c.289C>A c.(289-291)Ctt>Att p.L97I BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvs.2_Missense_Mutation_p.L119I NM_001109659 NP_001103129 Q96LL3 CP092_HUMAN Homo sapiens chromosome 16 open reading frame 92 (C16orf92), transcript variant 1, mRNA. 119 integral to membrane breast(3)|lung(3) 6 CTTCTTTCTCCTTTTCCAGTT 0.587000 47 18 2.94398e-08 9.26005e-08 0.000958276 1 0 HAUS1 115106 broad.mit.edu 37 18 43698189 43698189 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:43698189C>T uc002lbu.3 + 2 328 c.248C>T c.(247-249)tCc>tTc p.S83F HAUS1_uc002lbv.3_Missense_Mutation_p.S7F NM_138443 NP_612452 Q96CS2 HAUS1_HUMAN Homo sapiens HAUS augmin-like complex, subunit 1 (HAUS1), transcript variant 1, mRNA. 83 cell division|centrosome organization|mitosis|spindle assembly HAUS complex|centrosome|microtubule|spindle pole endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 GTGAATTTTTCCCCCGCCAAT 0.418000 64 27 0 0 0.00127121 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996397 140996397 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:140996397C>T uc004fbt.3 + 3 3531 c.3207C>T c.(3205-3207)ttC>ttT p.F1069F MAGEC1_uc010nsl.2_Silent_p.F136F|MAGEC1_uc022cfi.1_Silent_p.F728F NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 1069 MAGE. protein binding p.F1069F(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GTTACGAATTCCTGTGGGGTC 0.488000 HNSCC(15;0.026) 37 48 0 0 0.00361006 0 0 KLK13 26085 broad.mit.edu 37 19 51563169 51563169 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:51563169G>A uc002pvn.3 - 2 464 c.421C>T c.(421-423)Caa>Taa p.Q141* KLK13_uc002pvl.3_Intron|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Intron|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Intron|KLK13_uc002pvq.3_Intron|KLK13_uc010eoo.3_Intron|KLK13_uc002pvr.3_Nonsense_Mutation_p.Q141* NM_015596 NP_056411 Q9UKR3 KLK13_HUMAN Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA. 141 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 16 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) GGCAGGGTTTGGATGTAGCCT 0.632000 34 12 0 0 0.00136819 0 0 GPR126 57211 broad.mit.edu 37 6 142737042 142737042 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:142737042G>A uc010khe.3 + 19 3190 c.2779G>A c.(2779-2781)Gat>Aat p.D927N GPR126_uc010khc.3_Missense_Mutation_p.D927N|GPR126_uc010khd.3_Missense_Mutation_p.D899N|GPR126_uc010khf.3_Missense_Mutation_p.D899N NM_198569 NP_940971 Q86SQ4 GP126_HUMAN Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA. 927 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.Y927C(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) CTTCAATGTGGATGGACTTTG 0.473000 120 57 0 0 0.00361006 0 0 PLCB2 5330 broad.mit.edu 37 15 40590104 40590104 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:40590104G>A uc001zld.3 - 11 1513 c.1212C>T c.(1210-1212)atC>atT p.I404I PLCB2_uc010bbo.3_Silent_p.I404I|PLCB2_uc010ucm.2_Silent_p.I404I NM_004573 NP_004564 Q00722 PLCB2_HUMAN Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA. 404 PI-PLC X-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CAAACGACAGGATGATGGGAT 0.542000 29 11 0 0 0.00400662 0 0 USP39 10713 broad.mit.edu 37 2 85848678 85848678 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:85848678C>T uc002sqe.3 + 2 445 c.409C>T c.(409-411)Ctg>Ttg p.L137L USP39_uc002sqb.3_5'UTR|USP39_uc010ysu.2_Silent_p.L59L|USP39_uc010ysv.2_Intron|USP39_uc010fgn.1_Silent_p.L137L|USP39_uc002sqg.3_Silent_p.L137L|USP39_uc010fgo.3_Silent_p.L137L NM_006590 NP_006581 Q53GS9 SNUT2_HUMAN Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA. 137 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 TTATGCCTGTCTGGTGTGTGG 0.368000 61 29 0 0 0.00327116 0 0 FSTL1 11167 broad.mit.edu 37 3 120134855 120134855 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:120134855G>A uc003eds.3 - 2 258 c.83C>T c.(82-84)tCc>tTc p.S28F FSTL1_uc011bjh.2_Intron|FSTL1_uc010hrb.2_Missense_Mutation_p.S28F NM_007085 NP_009016 Q12841 FSTL1_HUMAN Homo sapiens follistatin-like 1 (FSTL1), mRNA. 28 BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1) 20 GBM - Glioblastoma multiforme(114;0.189) ACAGATCTTGGATTTGCTCCT 0.453000 97 49 0 0 0.00361006 0 0 A2ML1 144568 broad.mit.edu 37 12 8994114 8994114 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:8994114G>A uc001quz.4 + 10 1328 c.1230G>A c.(1228-1230)ggG>ggA p.G410G A2ML1_uc001qva.1_5'Flank NM_144670 NP_653271 B3KVV6 B3KVV6_HUMAN Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA. 254 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 GTTGGAATGGGACAGACGTTT 0.468000 40 15 0 0 0.00316338 0 0 MAST1 22983 broad.mit.edu 37 19 12958443 12958443 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:12958443C>T uc002mvm.3 + 5 634 c.506C>T c.(505-507)tCc>tTc p.S169F MAST1_uc021upp.1_5'UTR NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA. 169 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CGCTCCCCCTCCTCCTACGAC 0.627000 OREG0025277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 12 0 0 0.00244969 0 0 XIRP2 129446 broad.mit.edu 37 2 168100111 168100111 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:168100111G>A uc002udx.3 + 8 2298 c.2209G>A c.(2209-2211)Gaa>Aaa p.E737K XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E562K|XIRP2_uc010fpq.3_Missense_Mutation_p.E515K|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 562 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 AAAATGTTTCGAAACTCAACC 0.373000 31 24 0 0 0.00229938 0 0 OBSCN 84033 broad.mit.edu 37 1 228473846 228473846 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:228473846C>T uc009xez.1 + 33 9116 c.9072C>T c.(9070-9072)ttC>ttT p.F3024F OBSCN_uc001hsn.3_Silent_p.F3024F|OBSCN_uc001hsq.1_Silent_p.F280F NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 3024 Ig-like 30. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CGGCCACCTTCCGTTGCCGGA 0.632000 10 6 0 0 0.00198382 0 0 DIAPH1 1729 broad.mit.edu 37 5 140961908 140961908 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140961908G>A uc003llb.4 - 6 796 c.655C>T c.(655-657)Cgc>Tgc p.R219C DIAPH1_uc003llc.4_Missense_Mutation_p.R210C|DIAPH1_uc021yep.1_Missense_Mutation_p.R219C|DIAPH1_uc021yeq.1_Missense_Mutation_p.R210C NM_005219 NP_005210 O60610 DIAP1_HUMAN Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA. 219 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane Rho GTPase binding|actin binding|receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCAAGCAGCGAATGATCTCA 0.408000 37 19 0 0 0.00229938 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64511272 64511272 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:64511272C>T uc003jtp.3 - 18 3129 c.2315G>A c.(2314-2316)tGg>tAg p.W772* ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Nonsense_Mutation_p.W393* NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 772 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) GTCAATAGTCCAGGCACCATT 0.378000 42 18 0 0 0.00121646 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361450 70361450 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:70361450C>T uc003hek.4 - 0 177 c.130G>A c.(130-132)Gat>Aat p.D44N UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.D44N NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 44 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 ACAAGTTCATCCAGGATTGTC 0.448000 110 54 0 0 0.00361006 0 0 TMEM71 137835 broad.mit.edu 37 8 133734323 133734323 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:133734323G>A uc003ytn.3 - 6 887 c.658C>T c.(658-660)Ctg>Ttg p.L220L TMEM71_uc003ytm.2_Silent_p.L60L|TMEM71_uc003yto.3_Silent_p.L176L NM_144649 NP_653250 Q6P5X7 TMM71_HUMAN Homo sapiens transmembrane protein 71 (TMEM71), transcript variant 1, mRNA. 239 integral to membrane endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) ACAGCAAGCAGGATTGCCTGA 0.348000 78 27 0 0 0.00127121 0 0 NPY5R 4889 broad.mit.edu 37 4 164272537 164272537 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:164272537C>T uc003iqn.3 + 3 1294 c.1112C>T c.(1111-1113)aCc>aTc p.T371I NPY5R_uc021xtw.1_Missense_Mutation_p.T371I NM_006174 NP_006165 Q15761 NPY5R_HUMAN Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA. 371 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TACAGACTGACCATACTGATA 0.328000 54 27 0 0 0.000878237 0 0 USP44 84101 broad.mit.edu 37 12 95927181 95927181 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:95927181C>T uc001teg.3 - 1 996 c.852G>A c.(850-852)atG>atA p.M284I USP44_uc001teh.3_Missense_Mutation_p.M284I|USP44_uc009zte.3_Missense_Mutation_p.M281I NM_001042403 NP_115523 Q9H0E7 UBP44_HUMAN Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA. 284 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 GAACAGAATTCATATAGCAAG 0.368000 62 18 0 0 0.000566183 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508190 37508190 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:37508190G>A uc021ppc.1 + 33 3481 c.3382G>A c.(3382-3384)Gaa>Aaa p.E1128K ANKRD30A_uc001iza.1_Missense_Mutation_p.E1128K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 1184 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 TAAATTGAAGGAAAAACAAGA 0.368000 75 29 0 0 0.00127121 0 0 USH2A 7399 broad.mit.edu 37 1 215960078 215960078 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:215960078C>T uc001hku.1 - 51 10708 c.10321G>A c.(10321-10323)Gaa>Aaa p.E3441K NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3441 Fibronectin type-III 19. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CACATTTCTTCAATTGATGCC 0.453000 HNSCC(13;0.011) 61 26 0 0 0.0024448 0 0 CSMD1 64478 broad.mit.edu 37 8 3216752 3216752 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:3216752G>A uc022aqr.1 - 20 3616 c.3226C>T c.(3226-3228)Cgt>Tgt p.R1076C CSMD1_uc011kwj.2_Missense_Mutation_p.R469C|CSMD1_uc003wqe.3_Missense_Mutation_p.R233C NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1077 Sushi 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCTTCTAAACGATATCCCAGG 0.557000 48 17 0 0 0.00121646 0 0 PRDM14 63978 broad.mit.edu 37 8 70978470 70978470 + Splice_Site SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:70978470C>A uc003xym.3 - 5 1385 c.1183_splice c.e5+1 p.E395_splice NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN Homo sapiens PR domain containing 14 (PRDM14), mRNA. 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GTGCACTCACCTTCAGAGGGC 0.557000 38 20 8.28177e-16 2.61388e-15 0.000958276 1 0 FBXL2 25827 broad.mit.edu 37 3 33400467 33400467 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:33400467C>T uc003cfp.3 + 2 145 c.74C>T c.(73-75)tCc>tTc p.S25F FBXL2_uc011axm.1_Non-coding_Transcript|FBXL2_uc011axn.1_Non-coding_Transcript|FBXL2_uc011axp.2_Intron|FBXL2_uc021wuy.1_Missense_Mutation_p.S25F|FBXL2_uc011axo.2_5'UTR|FBXL2_uc011axr.1_Intron|FBXL2_uc011axq.1_Intron|FBXL2_uc011axs.1_Non-coding_Transcript NM_012157 NP_036289 Q9UKC9 FBXL2_HUMAN Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA. 25 F-box. interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1) 15 AGAATATTTTCCTTCTTGGAT 0.323000 14 12 0 0 0.00136819 0 0 SLC16A5 9121 broad.mit.edu 37 17 73096357 73096357 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:73096357C>T uc002jmr.3 + 4 971 c.599C>T c.(598-600)aCc>aTc p.T200I SLC16A5_uc002jmt.3_Missense_Mutation_p.T200I|SLC16A5_uc002jmu.3_Missense_Mutation_p.T200I|SLC16A5_uc010wrt.2_Missense_Mutation_p.T240I NM_004695 NP_004686 O15375 MOT6_HUMAN Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA. 200 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) GCCCCTGAGACCAAAGAATGT 0.647000 15 15 0 0 0.00244969 0 0 ALOX12B 242 broad.mit.edu 37 17 7979644 7979644 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:7979644C>T uc002gjy.1 - 10 1642 c.1381G>A c.(1381-1383)Gaa>Aaa p.E461K NM_001139 NP_001130 O75342 LX12B_HUMAN Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA. 461 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 GCAAAGCCTTCCACGCCCAGG 0.617000 Multiple Myeloma(8;0.094) 3 4 0 0 0.00024832 0 0 SPAM1 6677 broad.mit.edu 37 7 123594010 123594010 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:123594010A>T uc003vle.3 + 2 825 c.386A>T c.(385-387)aAa>aTa p.K129I SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.K129I|SPAM1_uc022aks.1_Missense_Mutation_p.K129I|SPAM1_uc003vlf.4_Missense_Mutation_p.K129I|SPAM1_uc010lku.3_Missense_Mutation_p.K129I NM_003117 NP_003108 P38567 HYALP_HUMAN Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA. 129 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) AAAGCTAAGAAAGACATTACA 0.408000 51 24 0 0 0.00395357 0 0 SLC7A9 11136 broad.mit.edu 37 19 33353099 33353099 + Missense_Mutation SNP G C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:33353099G>C uc002ntv.4 - 5 746 c.629C>G c.(628-630)tCt>tGt p.S210C SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_Missense_Mutation_p.S210C|SLC7A9_uc021usa.1_Missense_Mutation_p.S210C|SLC7A9_uc002ntw.4_Intron|JA660679_uc021usb.1_5'Flank NM_001126335 NP_055085 P82251 BAT1_HUMAN Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA. 210 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) GCCCTCGAAAGAATTATCAAA 0.527000 54 23 0 0 0.00188189 0 0 CHTOP 26097 broad.mit.edu 37 1 153617696 153617696 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:153617696C>T uc001fcn.2 + 5 1080 c.701C>T c.(700-702)gCt>gTt p.A234V CHTOP_uc001fcm.2_Missense_Mutation_p.A233V|CHTOP_uc021ozz.1_3'UTR|CHTOP_uc001fco.2_Missense_Mutation_p.A208V|CHTOP_uc001fcp.3_Non-coding_Transcript NM_001206612 NP_001193541 Q9Y3Y2 CHTOP_HUMAN Homo sapiens chromatin target of PRMT1 (CHTOP), transcript variant 2, mRNA. 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus RNA binding|protein binding endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6) 13 CACCTGGATGCTGAGTTGGAT 0.502000 40 21 0 0 0.00229938 0 0 DCC 1630 broad.mit.edu 37 18 50432551 50432551 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:50432551C>T uc002lfe.2 + 2 1166 c.550C>T c.(550-552)Cca>Tca p.P184S DCC_uc010xdr.1_Missense_Mutation_p.P32S NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 184 Ig-like C2-type 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.I183I(1) 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) GACTCCAATCCCAGGTGACTC 0.542000 30 17 0 0 0.00400662 0 0 TMIGD2 126259 broad.mit.edu 37 19 4298254 4298254 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:4298254C>T uc002lzx.2 - 1 181 c.135G>A c.(133-135)caG>caA p.Q45Q TMIGD2_uc021umz.1_Intron|TMIGD2_uc021una.1_Intron|TMIGD2_uc010dtv.2_Silent_p.Q45Q NM_144615 NP_653216 Q96BF3 TMIG2_HUMAN Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA. 45 Ig-like. integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2) 19 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGGTCCACCTGGCAGACCA 0.632000 15 9 0 0 0.000274275 0 0 TSIX 9383 broad.mit.edu 37 X 73047456 73047456 + RNA SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:73047456G>A uc004ebn.2 + 0 c.35417G>A XIST_uc004ebm.1_Non-coding_Transcript Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA. TAAAACGAACGAGAAGGGGAA 0.398000 0 6 0 0 0.00116845 0 0 PRTG 283659 broad.mit.edu 37 15 55930825 55930825 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:55930825C>T uc002adg.3 - 13 2422 c.2374G>A c.(2374-2376)Gaa>Aaa p.E792K NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN Homo sapiens protogenin (PRTG), mRNA. 792 Fibronectin type-III 4. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) ACGGCAAATTCGTATTTGGTG 0.393000 19 18 0 0 0.00121646 0 0 HHIPL1 84439 broad.mit.edu 37 14 100129338 100129338 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:100129338C>T uc010avs.3 + 5 1693 c.1628C>T c.(1627-1629)tCc>tTc p.S543F HHIPL1_uc001ygl.1_Missense_Mutation_p.S543F NM_001127258 NP_001120730 Q96JK4 HIPL1_HUMAN Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA. 543 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity p.S543F(2) breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) TACATCATCTCCTTCGGGGAG 0.607000 12 16 0 0 0.00400662 0 0 NYAP2 57624 broad.mit.edu 37 2 226446965 226446965 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:226446965G>A uc002voe.2 + 3 1007 c.832G>A c.(832-834)Gac>Aac p.D278N NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.D48N NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 278 TATCTTTGACGACTTGGGCCA 0.537000 54 32 0 0 0.001512 0 0 FAM46D 169966 broad.mit.edu 37 X 79698637 79698637 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:79698637C>T uc022bzm.1 + 0 599 c.599C>T c.(598-600)cCt>cTt p.P200L FAM46D_uc004edl.1_Missense_Mutation_p.P200L|FAM46D_uc004edm.2_Missense_Mutation_p.P200L NM_152630 NP_689843 Q8NEK8 FA46D_HUMAN Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA. 200 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 GAATCCTATCCTGTTGTGGTA 0.403000 15 22 0 0 0.00229938 0 0 OR52L1 338751 broad.mit.edu 37 11 6007946 6007946 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:6007946G>A uc001mcd.2 - 0 270 c.215C>T c.(214-216)tCc>tTc p.S72F NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA. 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTGGTGCAAGGATGGGTCCAT 0.537000 21 9 0 0 0.000442599 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58187627 58187627 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:58187627G>A uc002qpu.3 + 2 811 c.114G>A c.(112-114)ggG>ggA p.G38G NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA. 38 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAGAAGAAGGGATTTCTGAGT 0.383000 47 15 0 0 0.00400662 0 0 OR13C8 138802 broad.mit.edu 37 9 107331514 107331514 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:107331514G>A uc011lvo.2 + 0 66 c.66G>A c.(64-66)aaG>aaA p.K22K NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 CCCACCCAAAGCTCCAGACAG 0.428000 129 47 0 0 0.00361006 0 0 PRKG2 5593 broad.mit.edu 37 4 82125774 82125774 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:82125774G>A uc003hmh.2 - 0 441 c.428C>T c.(427-429)tCc>tTc p.S143F PRKG2_uc011cch.1_Missense_Mutation_p.S143F NM_006259 NP_006250 Q13237 KGP2_HUMAN Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA. 143 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 TTTCTCAAAGGAAAATTCAGG 0.453000 288 106 0 0 0.00361006 0 0 TLE1 7088 broad.mit.edu 37 9 84230986 84230986 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:84230986G>A uc004alz.3 - 10 1300 c.859C>T c.(859-861)Cgc>Tgc p.R287C TLE1_uc004aly.3_Missense_Mutation_p.R277C|TLE1_uc011lsr.2_Missense_Mutation_p.R277C|TLE1_uc004ama.1_Missense_Mutation_p.R277C|TLE1_uc011lss.1_Missense_Mutation_p.R203C NM_005077 NP_005068 Q04724 TLE1_HUMAN Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA. 277 Pro/Ser-rich. Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 TTTAGCAGGCGATTTTTGTCG 0.483000 103 74 0 0 0.00361006 0 0 CHST9 83539 broad.mit.edu 37 18 24496881 24496881 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:24496881G>A uc002kwd.3 - 4 903 c.674C>T c.(673-675)tCc>tTc p.S225F CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Missense_Mutation_p.S225F|CHST9_uc021uij.1_Missense_Mutation_p.S140F NM_001243848 NP_001230777 Q7L1S5 CHST9_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA. 225 carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|extracellular region|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3) 28 all_lung(6;0.0145)|Ovarian(20;0.124) TTTCCAATTGGAACAGCCAGC 0.393000 46 30 0 0 0.00106085 0 0 OR13C2 392376 broad.mit.edu 37 9 107367329 107367329 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:107367329C>T uc011lvq.2 - 0 580 c.580G>A c.(580-582)Gac>Aac p.D194N NM_001004481 NP_001004481 Q8NGS9 O13C2_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA. 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 AACTCATTGTCTGAGATGTCA 0.388000 121 29 0 0 0.00375469 0 0 SPTBN4 57731 broad.mit.edu 37 19 40993709 40993709 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:40993709G>A uc002ony.3 + 2 361 c.275G>A c.(274-276)gGc>gAc p.G92D SPTBN4_uc002onx.3_Missense_Mutation_p.G92D|SPTBN4_uc002onz.3_Missense_Mutation_p.G92D NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 92 Actin-binding.|CH 1. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTCCGGGACGGCTTCGTGCTC 0.672000 30 12 0 0 0.00136819 0 0 IFIT1B 439996 broad.mit.edu 37 10 91143846 91143846 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:91143846A>G uc001kgh.3 + 1 856 c.776A>G c.(775-777)aAg>aGg p.K259R LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron NM_001010987 NP_001010987 Q5T764 IFT1B_HUMAN Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA. 259 binding endometrium(2)|large_intestine(3)|lung(8) 13 TATGCAGCCAAGTTTTATCGA 0.443000 71 51 0 0 0.00361006 0 0 PKD1L2 114780 broad.mit.edu 37 16 81253727 81253727 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:81253727C>T uc002fgh.1 - 0 249 c.249G>A c.(247-249)agG>agA p.R83R PKD1L2_uc002fgj.3_Silent_p.R83R NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 83 C-type lectin. 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 TCCACCATTCCCTGTCCTGGG 0.537000 27 14 0 0 0.00244969 0 0 MRPL20 55052 broad.mit.edu 37 1 1342368 1342368 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:1342368C>T uc010nyn.1 - 1 215 c.119G>A c.(118-120)aGg>aAg p.R40K MRPL20_uc001afo.4_Missense_Mutation_p.R40K NM_017971 NP_060441 Q9BYC9 RM20_HUMAN Homo sapiens mitochondrial ribosomal protein L20 (MRPL20), nuclear gene encoding mitochondrial protein, mRNA. 40 protein binding|rRNA binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GACCGCCAACCTGTAGCAGCG 0.592000 88 79 0 0 0.00361006 0 0 EVPL 2125 broad.mit.edu 37 17 74019640 74019640 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:74019640G>A uc010wss.1 - 2 522 c.294C>T c.(292-294)ttC>ttT p.F98F EVPL_uc002jqi.2_Silent_p.F98F|EVPL_uc010wst.1_5'UTR NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 98 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CCACGTCCAGGAAGAGGTCCT 0.662000 25 20 0 0 0.00188189 0 0 SETBP1 26040 broad.mit.edu 37 18 42531846 42531846 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:42531846C>T uc010dni.3 + 3 2837 c.2541C>T c.(2539-2541)tcC>tcT p.S847S NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. 847 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AGATTGGCTCCCTAAAGGAAA 0.552000 Schinzel-Giedion syndrome 30 16 0 0 0.00400662 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077940 19077940 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:19077940T>C uc001mph.3 - 1 98 c.10A>G c.(10-12)Acc>Gcc p.T4A MRGPRX2_uc021qer.1_Missense_Mutation_p.T4A NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA. 4 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 GCCGGGGTGGTTGGATCCATG 0.502000 152 51 0 0 0.00361006 0 0 ELAVL2 1993 broad.mit.edu 37 9 23692797 23692797 + Missense_Mutation SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:23692797C>A uc003zpu.3 - 6 1113 c.838G>T c.(838-840)Gtg>Ttg p.V280L ELAVL2_uc003zps.3_Missense_Mutation_p.V267L|ELAVL2_uc003zpt.3_Missense_Mutation_p.V267L|ELAVL2_uc003zpv.3_Missense_Mutation_p.V280L|ELAVL2_uc003zpw.3_Missense_Mutation_p.V267L NM_004432 NP_004423 Q12926 ELAV2_HUMAN Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA. 280 RRM 3. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) AGGTTGTACACAAATATACAC 0.468000 35 25 2.79863e-10 8.8179e-10 0.000720815 1 0 GPATCH8 23131 broad.mit.edu 37 17 42475713 42475713 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:42475713G>A uc002igw.2 - 7 3951 c.3732C>T c.(3730-3732)ctC>ctT p.L1244L GPATCH8_uc002igv.2_Silent_p.L1166L|GPATCH8_uc010wiz.2_Silent_p.L1166L NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA. 1244 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TGGGGTCGGGGAGGTAGTTAT 0.597000 85 70 0 0 0.00361006 0 0 HSPBAP1 79663 broad.mit.edu 37 3 122478140 122478140 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:122478140G>A uc003efu.2 - 3 639 c.500C>T c.(499-501)tCc>tTc p.S167F HSPBAP1_uc003efv.2_Missense_Mutation_p.S167F NM_024610 NP_078886 Q96EW2 HBAP1_HUMAN Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA. 167 Interaction with HSPB1 (By similarity).|JmjC. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1) 16 GBM - Glioblastoma multiforme(114;0.0531) GGCTCCCAAGGAGCCAATCCA 0.448000 38 18 0 0 0.00121646 0 0 UBASH3A 53347 broad.mit.edu 37 21 43829558 43829558 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:43829558C>T uc002zbe.3 + 2 279 c.195C>T c.(193-195)tcC>tcT p.S65S UBASH3A_uc002zbf.3_Silent_p.S65S|UBASH3A_uc010gpe.3_Silent_p.S65S|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript NM_018961 NP_061834 P57075 UBS3A_HUMAN Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA. 65 cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 ATGACCCTTCCCTAGACGACC 0.527000 80 17 0 0 0.00121646 0 0 ZNF714 148206 broad.mit.edu 37 19 21299951 21299951 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:21299951C>T uc002npo.4 + 4 859 c.481C>T c.(481-483)Caa>Taa p.Q161* ZNF714_uc002npl.3_Nonsense_Mutation_p.Q7*|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank NM_182515 NP_872321 Q96N38 ZN714_HUMAN Homo sapiens zinc finger protein 714 (ZNF714), mRNA. 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 ACACCTACATCAACATAAAAG 0.323000 53 16 0 0 0.000566183 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49344405 49344405 + Splice_Site SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:49344405C>T uc002pkx.3 - 17 2456 c.1905_splice c.e17+1 p.R635_splice PLEKHA4_uc010eml.3_Intron NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA. 635 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) CCTCCCCTCACCCTTTGCTCC 0.617000 9 5 0 0 0.00116845 0 0 SLC39A4 55630 broad.mit.edu 37 8 145641389 145641389 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:145641389G>A uc003zcq.3 - 1 379 c.279C>T c.(277-279)gtC>gtT p.V93V SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_5'Flank|SLC39A4_uc003zcp.3_Silent_p.V68V NM_130849 NP_570901 Q6P5W5 S39A4_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA. 93 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 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;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) TGAGGCGGGCGACGTACCTGG 0.721000 5 4 0 0 0.00024832 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84683372 84683372 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:84683372C>T uc002bjz.4 + 23 4276 c.4052C>T c.(4051-4053)tCc>tTc p.S1351F ADAMTSL3_uc010bmt.1_Missense_Mutation_p.S1351F NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 1351 Ig-like C2-type 3. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TTCAATGGATCCCTGTTGTTG 0.438000 28 104 0 0 0.00361006 0 0 SERPINB11 89778 broad.mit.edu 37 18 61390527 61390527 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:61390527G>A uc002ljk.4 + 8 1241 c.1070G>A c.(1069-1071)aGc>aAc p.S357N SERPINB11_uc010xes.2_Missense_Mutation_p.S183N|SERPINB11_uc010dqd.3_Intron|SERPINB11_uc002ljj.4_Missense_Mutation_p.S244N|SERPINB11_uc010dqe.3_Missense_Mutation_p.S157N|SERPINB11_uc010dqf.3_Missense_Mutation_p.S156N NM_080475 NP_536723 Q96P15 SPB11_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA. 358 RCL (By similarity). Reactive bond (By similarity). regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GCTGTAAAAAGCCTACCAATG 0.502000 42 22 0 0 0.00278032 0 0 EFHB 151651 broad.mit.edu 37 3 19938289 19938289 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:19938289G>A uc003cbl.4 - 8 1811 c.1615C>T c.(1615-1617)Cga>Tga p.R539* EFHB_uc003cbm.3_Nonsense_Mutation_p.R409* NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN Homo sapiens EF-hand domain family, member B (EFHB), mRNA. 539 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 TCCTTGCCTCGAAGATATTCA 0.388000 12 17 0 0 0.00400662 0 0 MAP3K5 4217 broad.mit.edu 37 6 136977592 136977592 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:136977592G>A uc003qhc.3 - 9 1894 c.1533C>T c.(1531-1533)ctC>ctT p.L511L MAP3K5_uc011edj.2_5'UTR|MAP3K5_uc011edk.1_Silent_p.L356L|MAP3K5_uc010kgw.1_Silent_p.L511L NM_005923 NP_005914 Q99683 M3K5_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA. 511 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|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|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) CAATAGACTTGAGGTACCTGA 0.353000 105 31 0 0 0.00283554 0 0 GPR176 11245 broad.mit.edu 37 15 40094123 40094123 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:40094123G>A uc001zkj.1 - 2 1624 c.758C>T c.(757-759)tCt>tTt p.S253F GPR176_uc010uck.1_Missense_Mutation_p.S193F NM_007223 NP_009154 Q14439 GP176_HUMAN Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA. 253 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) ATAGGGAATAGAGATGGTGTT 0.587000 OREG0023053 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 24 0 0 0.00278032 0 0 OR56A5 390084 broad.mit.edu 37 11 5988906 5988906 + Silent SNP C T T rs115262808 by1000genomes TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:5988906C>T uc010qzu.2 - 0 819 c.819G>A c.(817-819)ccG>ccA p.P273P NM_001146033 NP_001139505 P0C7T3 O56A5_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA. 273 integral to membrane|plasma membrane olfactory receptor activity TGGGGACATCCGGAGGAATTC 0.517000 16 9 0 0 0.000274275 0 0 GRIK3 2899 broad.mit.edu 37 1 37307391 37307391 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:37307391C>T uc001caz.2 - 9 1611 c.1476G>A c.(1474-1476)ggG>ggA p.G492G GRIK3_uc001cba.1_Silent_p.G492G NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 492 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 G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.Y491*(1) 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) CATCCTGTGCCCCGTACTTGC 0.597000 77 49 0 0 0.00361006 0 0 MUC16 94025 broad.mit.edu 37 19 9073481 9073481 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9073481G>A uc002mkp.3 - 2 14169 c.13965C>T c.(13963-13965)ttC>ttT p.F4655F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4657 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 AAATATCTGGGAACTTTGTTG 0.463000 61 29 0 0 0.00178596 0 0 MYH1 4619 broad.mit.edu 37 17 10411972 10411972 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10411972G>A uc002gmo.3 - 15 1699 c.1605C>T c.(1603-1605)tcC>tcT p.S535S AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 535 Myosin head-like. muscle myosin complex|myofibril|myosin filament ATP binding|actin 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 CTTCCAGGATGGAGAAGATGC 0.393000 34 24 0 0 0.00127121 0 0 SPEF2 79925 broad.mit.edu 37 5 35814624 35814624 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:35814624C>T uc003jjo.3 + 36 5549 c.5438C>T c.(5437-5439)tCa>tTa p.S1813L SPEF2_uc003jjr.3_Missense_Mutation_p.S868L NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1813 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGAGAGAGATCACCTTCAAGA 0.303000 55 20 0 0 0.00152264 0 0 LRP1 4035 broad.mit.edu 37 12 57597059 57597059 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:57597059G>A uc001snd.3 + 68 11273 c.10807G>A c.(10807-10809)Ggc>Agc p.G3603S NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 3603 LDL-receptor class A 27. aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTGCGCGGACGGCTCGGACGA 0.672000 9 5 0 0 0.000602214 0 0 IL20RA 53832 broad.mit.edu 37 6 137330539 137330539 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:137330539G>A uc003qhj.3 - 3 927 c.494C>T c.(493-495)cCa>cTa p.P165L IL20RA_uc011edl.2_Missense_Mutation_p.P116L|IL20RA_uc003qhk.3_Missense_Mutation_p.P54L|IL20RA_uc010kgy.1_Non-coding_Transcript|IL20RA_uc003qhi.3_5'Flank NM_014432 NP_055247 Q9UHF4 I20RA_HUMAN Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA. 165 Fibronectin type-III 2. integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) AAGGTCTTCTGGATTTCTCTT 0.438000 60 36 0 0 0.000953801 0 0 ZNF780B 163131 broad.mit.edu 37 19 40542422 40542422 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:40542422G>A uc002omu.3 - 4 409 c.344C>T c.(343-345)gCc>gTc p.A115V ZNF780B_uc002omv.3_5'UTR NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN Homo sapiens zinc finger protein 780B (ZNF780B), mRNA. 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) AAAATAAAAGGCCTCGAGGCC 0.328000 21 5 0 0 0.000602214 0 0 CAPSL 133690 broad.mit.edu 37 5 35910057 35910057 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:35910057G>A uc003jjt.1 - 3 531 c.436C>T c.(436-438)Cca>Tca p.P146S CAPSL_uc003jju.1_Missense_Mutation_p.P146S NM_001042625 NP_653248 Q8WWF8 CAPSL_HUMAN Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA. 146 EF-hand 3. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) TGGTACTTTGGGTGGTGTTTT 0.368000 108 41 0 0 0.00321405 0 0 OR2H1 26716 broad.mit.edu 37 6 29430458 29430458 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:29430458G>A uc003nmi.3 + 2 1355 c.912G>A c.(910-912)ggG>ggA p.G304G OR2H1_uc003nmj.1_Silent_p.G304G|OR2H1_uc010jri.2_Silent_p.G226G|OR2H1_uc021ytr.1_Silent_p.G304G NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA. 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 GGTTACTAGGGAAGGAAAGAG 0.433000 47 10 0 0 0.00136819 0 0 OR2M5 127059 broad.mit.edu 37 1 248308964 248308964 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:248308964G>A uc010pze.2 + 0 515 c.515G>A c.(514-516)cGg>cAg p.R172Q NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA. 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R172W(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) TGTGGGTCTCGGGAAATAGCC 0.428000 195 74 0 0 0.00361006 0 0 ECE1 1889 broad.mit.edu 37 1 21546555 21546555 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:21546555G>A uc001bek.2 - 18 2281 c.2206C>T c.(2206-2208)Cgc>Tgc p.R736C ECE1_uc001bem.2_Missense_Mutation_p.R720C|ECE1_uc001bej.2_Missense_Mutation_p.R724C|ECE1_uc001bei.2_Missense_Mutation_p.R733C|ECE1_uc010odl.1_Missense_Mutation_p.R704C NM_001397 NP_001388 P42892 ECE1_HUMAN Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA. 736 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane 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) ACCCGGAAGCGAGAGGGGCTG 0.617000 17 15 0 0 0.00316338 0 0 GRM3 2913 broad.mit.edu 37 7 86394765 86394765 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:86394765G>A uc003uid.3 + 1 1403 c.304G>A c.(304-306)Gat>Aat p.D102N GRM3_uc010lef.3_Missense_Mutation_p.D100N|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 102 synaptic transmission integral to plasma membrane p.D102N(2) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ATGTTCAAGGGATACCTATGC 0.418000 105 44 0 0 0.00361006 0 0 WRNIP1 56897 broad.mit.edu 37 6 2779538 2779539 + Missense_Mutation DNP CT TC TC TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:2779538_2779539CT>TC uc003mtz.3 + 3 1489_1490 c.1298_1299CT>TC c.(1297-1299)gct>gTC p.A433V WRNIP1_uc003mua.3_Missense_Mutation_p.A408V NM_020135 NP_064520 Q96S55 WRIP1_HUMAN Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA. 433 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 Ovarian(93;0.0412) all_hematologic(90;0.0895) GACACCCTGGCTTACCTCAGTG 0.535000 82 19 0 0 6.4e-05 0 0 MCTP1 79772 broad.mit.edu 37 5 94275892 94275892 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:94275892C>T uc003kkx.2 - 4 1069 c.1069G>A c.(1069-1071)Gat>Aat p.D357N MCTP1_uc003kkv.2_Missense_Mutation_p.D136N|MCTP1_uc003kkw.2_Missense_Mutation_p.D136N|MCTP1_uc003kkz.2_Missense_Mutation_p.D18N NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA. 357 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding p.T356T(1) breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) AGGGTCACATCTGTGGGCCTG 0.333000 63 30 0 0 0.001512 0 0 LMAN2L 81562 broad.mit.edu 37 2 97373551 97373551 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:97373551G>A uc002swv.3 - 7 873 c.837C>T c.(835-837)tcC>tcT p.S279S LMAN2L_uc002swu.3_Silent_p.S268S|LMAN2L_uc010yuu.2_Silent_p.S132S|LMAN2L_uc010yut.2_Silent_p.S134S|LMAN2L_uc010yuv.2_Silent_p.S121S|LMAN2L_uc010yuw.2_Silent_p.S123S|LMAN2L_uc010yux.2_Silent_p.S123S NM_001142292 NP_001135764 Q9H0V9 LMA2L_HUMAN Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA. 268 ER to Golgi vesicle-mediated transport|protein folding|protein transport ER to Golgi transport vesicle|Golgi membrane|endoplasmic reticulum membrane|integral to membrane mannose binding|metal ion binding NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 ACAACTTCAAGGAAATGACAT 0.418000 66 24 0 0 0.001512 0 0 CYSLTR1 10800 broad.mit.edu 37 X 77529033 77529033 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:77529033G>A uc022bzh.1 - 0 211 c.211C>T c.(211-213)Ctt>Ttt p.L71F CYSLTR1_uc004edb.3_Missense_Mutation_p.L71F|CYSLTR1_uc010nma.3_Missense_Mutation_p.L71F|CYSLTR1_uc010nmb.3_Missense_Mutation_p.L71F NM_006639 NP_006630 Q9Y271 CLTR1_HUMAN Homo sapiens cysteinyl leukotriene receptor 1 (CYSLTR1), mRNA. 71 elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) CACACACAAAGTAGATCTGCT 0.433000 11 12 0 0 0.00185496 0 0 RETNLB 84666 broad.mit.edu 37 3 108476028 108476028 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:108476028C>T uc003dxh.2 - 0 103 c.5G>A c.(4-6)gGg>gAg p.G2E NM_032579 NP_115968 Q9BQ08 RETNB_HUMAN Homo sapiens resistin like beta (RETNLB), mRNA. 2 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 AGAGGACGGCCCCATCCTGTA 0.522000 26 18 0 0 0.00152264 0 0 INSC 387755 broad.mit.edu 37 11 15257208 15257208 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:15257208G>A uc001mlz.3 + 9 1342 c.1231G>A c.(1231-1233)Gaa>Aaa p.E411K INSC_uc001mly.3_Missense_Mutation_p.E458K|INSC_uc001mma.3_Missense_Mutation_p.E411K|INSC_uc010rcs.2_Missense_Mutation_p.E446K|INSC_uc001mmb.3_Missense_Mutation_p.E411K|INSC_uc001mmc.3_Missense_Mutation_p.E369K NM_001042536 NP_001036001 Q1MX18 INSC_HUMAN Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA. 458 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 CATCATTCAGGAAAATGGTAT 0.413000 57 42 0 0 0.00321405 0 0 DNAJC8 22826 broad.mit.edu 37 1 28527822 28527822 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:28527822C>T uc001bpn.3 - 8 732 c.699G>A c.(697-699)aaG>aaA p.K233K DNAJC8_uc001bpo.3_Non-coding_Transcript NM_014280 NP_055095 O75937 DNJC8_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 8 (DNAJC8), mRNA. 233 nuclear mRNA splicing, via spliceosome|protein folding nucleoplasm heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649) TCTTCTCTTTCTTCCCCTTCG 0.493000 124 113 0 0 0.00361006 0 0 C10orf118 55088 broad.mit.edu 37 10 115891749 115891749 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:115891749G>A uc001lbb.1 - 10 2502 c.1850C>T c.(1849-1851)tCc>tTc p.S617F C10orf118_uc009xyd.1_Missense_Mutation_p.S215F|C10orf118_uc009xye.1_Non-coding_Transcript|C10orf118_uc001lbc.1_Missense_Mutation_p.S617F NM_018017 NP_060487 Q7Z3E2 CJ118_HUMAN Homo sapiens chromosome 10 open reading frame 118 (C10orf118), mRNA. 617 NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2) 24 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) TTCACTACAGGAAACTTTATC 0.333000 39 28 0 0 0.00178596 0 0 CTNND2 1501 broad.mit.edu 37 5 10992745 10992745 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:10992745G>A uc003jfa.1 - 18 3274 c.3129C>T c.(3127-3129)atC>atT p.I1043I CTNND2_uc010itt.2_Silent_p.I952I|CTNND2_uc011cmy.1_Silent_p.I706I|CTNND2_uc011cmz.1_Silent_p.I610I|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.I635I NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 1043 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GGTCCCTCTCGATGGTTGAAG 0.572000 51 26 0 0 0.00127121 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140214325 140214325 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140214325G>A uc003lhq.2 + 0 357 c.357G>A c.(355-357)gtG>gtA p.V119V PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.V119V NM_018910 NP_061733 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA. 134 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTCCATGTGGACGTGGAGG 0.587000 170 43 0 0 0.00361006 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169550874 169550874 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:169550874C>T uc003fgb.3 + 3 1433 c.1433C>T c.(1432-1434)cCc>cTc p.P478L NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA. 478 p.N477T(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 ATGGACAATCCCATGGAAGAA 0.433000 35 18 0 0 0.00074312 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735767 55735767 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:55735767G>A uc010rit.2 - 0 173 c.173C>T c.(172-174)tCc>tTc p.S58F NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA. 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S58F(2)|p.S58S(1) 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) TTCCAAAAGGGAAAAATTGCT 0.348000 40 20 0 0 0.00152264 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140719247 140719247 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140719247G>A uc003ljk.2 + 0 894 c.709G>A c.(709-711)Gac>Aac p.D237N PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.D237N NM_018915 NP_061738 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA. 237 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATGCGAACGACAATGCGCC 0.587000 42 15 0 0 0.00400662 0 0 FAM75C1 441452 broad.mit.edu 37 9 90536048 90536048 + Missense_Mutation SNP G A A rs148240951 by1000genomes TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:90536048G>A uc010mqi.3 + 3 1255 c.1226G>A c.(1225-1227)aGg>aAg p.R409K FAM75C1_uc004apq.4_Missense_Mutation_p.R392K NM_001145124 NP_001138596 Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA. CCTTTGTTGAGGAAACAACTA 0.498000 206 33 0 0 0.00361006 0 0 APOBEC3C 27350 broad.mit.edu 37 22 39411611 39411612 + Missense_Mutation DNP AG GA GA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:39411611_39411612AG>GA uc003awr.3 + 1 132_133 c.29_30AG>GA c.(28-30)aag>aGA p.K10R NM_014508 NP_055323 Q9NRW3 ABC3C_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C (APOBEC3C), mRNA. 10 DNA demethylation|interspecies interaction between organisms|negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|skin(1) 6 Melanoma(58;0.04) AACCCGATGAAGGCAATGTATC 0.520000 53 28 0 0 6.4e-05 0 0 KLRC1 3821 broad.mit.edu 37 12 10601878 10601878 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:10601878C>T uc001qyl.3 - 4 661 c.447G>A c.(445-447)tcG>tcA p.S149S KLRC1_uc009zhm.2_Silent_p.S149S|KLRC1_uc001qym.3_Silent_p.S131S|KLRC1_uc001qyn.3_Silent_p.S149S|KLRC1_uc001qyo.3_Silent_p.S131S NM_002259 NP_998823 P26715 NKG2A_HUMAN Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA. 149 C-type lectin. cell surface receptor linked signaling pathway|regulation of immune response integral to plasma membrane sugar binding|transmembrane receptor activity p.S149S(4) NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 TGGAGTTCTTCGAAGTACAGG 0.368000 172 81 0 0 0.00361006 0 0 TCRBV20S1 0 broad.mit.edu 37 7 142032418 142032418 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:142032418C>T uc011krs.1 + 1 271 c.238C>T c.(238-240)Ccc>Tcc p.P80S TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds. ATCGGGGCTTCCCCGTGATCG 0.552000 12 10 0 0 0.000442599 0 0 AFF4 27125 broad.mit.edu 37 5 132227973 132227973 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:132227973G>A uc003kyd.3 - 12 2928 c.2520C>T c.(2518-2520)tcC>tcT p.S840S AFF4_uc011cxk.2_Silent_p.S518S|AFF4_uc003kye.1_Silent_p.S840S NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA. 840 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity p.S839F(1) SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTGACTTTAAGGAAGAAGACT 0.463000 102 49 0 0 0.00361006 0 0 ALPK3 57538 broad.mit.edu 37 15 85401399 85401399 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:85401399C>T uc002ble.3 + 5 4203 c.4036C>T c.(4036-4038)Cca>Tca p.P1346S NM_020778 NP_065829 Q96L96 ALPK3_HUMAN Homo sapiens alpha-kinase 3 (ALPK3), mRNA. 1346 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GGAGAAGTTCCCAGGGGAGGC 0.647000 5 8 0 0 0.000442599 0 0 C17orf97 400566 broad.mit.edu 37 17 263815 263815 + Missense_Mutation SNP C T T rs148328036 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:263815C>T uc021tna.1 + 1 1197 c.1181C>T c.(1180-1182)aCg>aTg p.T394M C17orf97_uc010vpz.1_Non-coding_Transcript NM_001013672 NP_001013694 Q6ZQX7 CQ097_HUMAN Homo sapiens chromosome 17 open reading frame 97 (C17orf97), mRNA. 424 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 AGGCAGCCCACGTCGAAAGCC 0.552000 56 28 0 0 0.000878237 0 0 CSF2RA 1438 broad.mit.edu 37 X 1428361 1428361 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:1428361G>A uc010nct.2 + 13 1514 c.1192G>A c.(1192-1194)Gaa>Aaa p.E398K CRLF2_uc022brt.1_Intron|CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_Missense_Mutation_p.E398K|CSF2RA_uc004cpo.2_Missense_Mutation_p.E398K|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.E265K|CSF2RA_uc004cpp.2_Missense_Mutation_p.G338E|CSF2RA_uc010ncv.2_Missense_Mutation_p.E432K|CSF2RA_uc004cpr.2_3'UTR NM_001161529 NP_001155004 P15509 CSF2R_HUMAN Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA. 398 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) GACCGTGAAGGAAATTACCTG 0.512000 102 43 0 0 0.0025221 0 0 SI 6476 broad.mit.edu 37 3 164737539 164737539 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:164737539C>T uc003fei.3 - 27 3337 c.3274G>A c.(3274-3276)Gga>Aga p.G1092R NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 1092 Sucrase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AAAGCAAATCCAGGCAGCCAA 0.353000 HNSCC(35;0.089) 37 16 0 0 0.000566183 0 0 DGKZ 8525 broad.mit.edu 37 11 46397925 46397925 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:46397925C>T uc001ncn.1 + 23 2828 c.2703C>T c.(2701-2703)tcC>tcT p.S901S DGKZ_uc001nch.2_Silent_p.S729S|DGKZ_uc010rgq.2_Silent_p.S695S|DGKZ_uc010rgr.2_Silent_p.S717S|DGKZ_uc001ncj.2_Silent_p.S679S|DGKZ_uc001nck.2_Silent_p.S491S|DGKZ_uc001ncm.2_Silent_p.S712S|DGKZ_uc001ncl.2_Silent_p.S713S|DGKZ_uc009yky.1_Silent_p.S713S|DGKZ_uc010rgs.1_Silent_p.S690S|MIR4688_uc021qim.1_5'Flank NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA. 901 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) AGAAACTGTCCCCCAAGTGGT 0.617000 87 36 0 0 0.00195071 0 0 IK 3550 broad.mit.edu 37 5 140039372 140039372 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140039372C>T uc003lgq.3 + 13 1337 c.1227C>T c.(1225-1227)tcC>tcT p.S409S IK_uc021yen.1_Silent_p.S350S|U7_uc021yeo.1_5'Flank NM_006083 NP_006074 Q13123 RED_HUMAN Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA. 409 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATCAAGTCCATCAATGAAA 0.478000 2 4 0 0 0.000602214 0 0 A2M 2 broad.mit.edu 37 12 9264772 9264772 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:9264772G>A uc001qvk.1 - 3 579 c.466C>T c.(466-468)Cac>Tac p.H156Y A2M_uc009zgk.1_Missense_Mutation_p.H6Y NM_000014 NP_000005 P01023 A2MG_HUMAN Homo sapiens alpha-2-macroglobulin (A2M), mRNA. 156 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TTCAGGGGGTGAAAGTTTTCA 0.418000 43 16 0 0 0.00121646 0 0 RXFP1 59350 broad.mit.edu 37 4 159559168 159559168 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:159559168C>T uc003ipz.3 + 12 1243 c.980C>T c.(979-981)tCc>tTc p.S327F RXFP1_uc010iqj.2_Missense_Mutation_p.S156F|RXFP1_uc010iqk.3_Missense_Mutation_p.S195F|RXFP1_uc011cja.2_Missense_Mutation_p.S222F|RXFP1_uc010iqo.3_Intron|RXFP1_uc011cjb.2_Intron|RXFP1_uc011cjc.2_Missense_Mutation_p.S246F|RXFP1_uc011cjd.2_Missense_Mutation_p.S246F|RXFP1_uc010iql.3_Missense_Mutation_p.S171F|RXFP1_uc011cje.2_Missense_Mutation_p.S354F|RXFP1_uc010iqm.3_Missense_Mutation_p.S294F|RXFP1_uc011cjf.2_Missense_Mutation_p.S197F|RXFP1_uc010iqn.3_Missense_Mutation_p.S273F NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA. 327 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) AGGAATCTTTCCTATAATCCA 0.294000 34 12 0 0 0.000978159 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145758632 145758632 + Silent SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:145758632T>A uc003zds.1 - 9 3321 c.2766A>T c.(2764-2766)gcA>gcT p.A922A ARHGAP39_uc011llk.1_Silent_p.A891A|ARHGAP39_uc003zdt.1_Silent_p.A891A NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA. 891 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CCTCCTGCAGTGCGCTGCCGA 0.647000 32 11 0 0 0.000978159 0 0 FSHR 2492 broad.mit.edu 37 2 49247283 49247283 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:49247283C>T uc002rww.3 - 2 351 c.241G>A c.(241-243)Gat>Aat p.D81N FSHR_uc010fbn.3_Missense_Mutation_p.D81N|FSHR_uc002rwx.3_Missense_Mutation_p.D81N|FSHR_uc010fbo.2_Non-coding_Transcript NM_000145 NP_000136 P23945 FSHR_HUMAN Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA. 81 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TCCAAGACATCATTCTGAGAG 0.408000 Gonadal Dysgenesis, 46 XX 213 83 0 0 0.00361006 0 0 ANKS4B 257629 broad.mit.edu 37 16 21261062 21261062 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:21261062G>A uc010bwp.1 + 1 218 c.175G>A c.(175-177)Gat>Aat p.D59N CRYM_uc010bwq.1_Intron NM_145865 NP_665872 Q8N8V4 ANS4B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA. 59 NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) AGGGGACCCTGATAGGTGTGA 0.428000 41 23 0 0 0.000878237 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105367188 105367188 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:105367188C>T uc003ylx.1 + 2 1162 c.1113C>T c.(1111-1113)ttC>ttT p.F371F NM_030788 NP_110415 Q9H295 TM7S4_HUMAN Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA. 371 osteoclast differentiation cell surface|integral to membrane|plasma membrane AACCAAAATTCCTTCTATCTG 0.353000 57 18 0 0 0.000958276 0 0 HR 55806 broad.mit.edu 37 8 21978728 21978728 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:21978728G>A uc003xas.3 - 9 2882 c.2217C>T c.(2215-2217)tcC>tcT p.S739S HR_uc003xat.3_Silent_p.S739S NM_005144 NP_005135 O43593 HAIR_HUMAN Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA. 739 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GGGTCTCAGCGGAATCGGGGG 0.642000 67 35 0 0 0.000953801 0 0 FAM70B 348013 broad.mit.edu 37 13 114498161 114498161 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:114498161C>T uc001vuh.3 + 3 320 c.293C>T c.(292-294)gCc>gTc p.A98V NM_182614 NP_872420 Q8WV15 FA70B_HUMAN Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA. 98 integral to membrane upper_aerodigestive_tract(1) 1 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) GGCGTGGTGGCCGCCTTCTGC 0.547000 21 22 0 0 0.000720815 0 0 E2F1 1869 broad.mit.edu 37 20 32264940 32264940 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:32264940G>A uc002wzu.4 - 5 1177 c.1037C>T c.(1036-1038)cCc>cTc p.P346L NECAB3_uc002wzm.4_5'Flank|NECAB3_uc002wzn.4_5'Flank|NECAB3_uc002wzo.4_5'Flank NM_005225 NP_005216 Q01094 E2F1_HUMAN Homo sapiens E2F transcription factor 1 (E2F1), mRNA. 346 Required for interaction with TRIM28. G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|apoptosis|cell proliferation|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle Rb-E2F complex|mitochondrion sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 16 AGACTGGCTGGGATCTGTGGT 0.637000 29 10 0 0 0.00136819 0 0 SLC6A5 9152 broad.mit.edu 37 11 20648311 20648311 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:20648311G>A uc001mqd.3 + 7 1591 c.1318G>A c.(1318-1320)Gga>Aga p.G440R SLC6A5_uc009yic.3_Missense_Mutation_p.G205R NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA. 440 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) CCTCATCCGAGGAGTCACCCT 0.552000 37 28 0 0 0.00127121 0 0 MTMR4 9110 broad.mit.edu 37 17 56581722 56581722 + Missense_Mutation SNP G A A rs144640723 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:56581722G>A uc002iwj.2 - 12 1537 c.1427C>T c.(1426-1428)tCt>tTt p.S476F NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN Homo sapiens myotubularin related protein 4 (MTMR4), mRNA. 476 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGATGAACAGAATCAAGCCA 0.493000 51 42 0 0 0.00195071 0 0 VWC2L 402117 broad.mit.edu 37 2 215279114 215279114 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:215279114G>A uc002vet.2 + 1 327 c.197G>A c.(196-198)cGa>cAa p.R66Q VWC2L_uc010zjl.1_Missense_Mutation_p.R66Q NM_001080500 NP_001073969 B2RUY7 VWC2L_HUMAN Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA. 66 VWFC 1. extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 TTGGGAGAACGATTTTTCCCT 0.458000 22 16 0 0 0.00316338 0 0 LRRTM4 80059 broad.mit.edu 37 2 76975989 76975989 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:76975989G>A uc002snr.3 - 3 2020 c.1605C>T c.(1603-1605)atC>atT p.I535I LRRTM4_uc002snq.3_Silent_p.I535I NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA. 535 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) GGCAGTACCCGATCACAGGCT 0.537000 32 16 0 0 0.00400662 0 0 DSG2 1829 broad.mit.edu 37 18 29102112 29102112 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:29102112C>T uc002kwu.4 + 5 778 c.590C>T c.(589-591)tCc>tTc p.S197F NM_001943 NP_001934 Q14126 DSG2_HUMAN Homo sapiens desmoglein 2 (DSG2), mRNA. 197 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TCGAAAATTTCCTATAGAATC 0.378000 34 19 0 0 0.00152264 0 0 SZT2 23334 broad.mit.edu 37 1 43909141 43909142 + Missense_Mutation DNP AC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:43909141_43909142AC>TT uc001cjk.2 + 59 8531_8532 c.5921_5922AC>TT c.(5920-5922)gac>gTT p.D1974V SZT2_uc001cjl.2_5'Flank NM_015284 NP_056099 Q5T011 SZT2_HUMAN Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA. 2873 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGACCCCCTGACGGGCAGGTAA 0.614000 16 16 0 0 6.4e-05 0 0 TTN 7273 broad.mit.edu 37 2 179636071 179636071 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179636071C>T uc021vsy.1 - 33 8208 c.7983G>A c.(7981-7983)ctG>ctA p.L2661L TTN_uc021vsz.1_Silent_p.L2615L|TTN_uc021vta.1_Silent_p.L2615L|TTN_uc021vtb.1_Silent_p.L2615L|TTN_uc002unb.2_Silent_p.L2661L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 2661 Ig-like 15. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.A2660S(1) 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) TGTTGTTAGTCAGTGGTAGGT 0.458000 43 20 0 0 0.00188189 0 0 NLRP8 126205 broad.mit.edu 37 19 56466865 56466865 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:56466865C>T uc002qmh.3 + 2 1512 c.1441C>T c.(1441-1443)Cag>Tag p.Q481* NLRP8_uc010etg.3_Nonsense_Mutation_p.Q481* NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 481 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CAAGCTGGATCAGACGGGAGT 0.493000 89 29 0 0 0.00127121 0 0 ARAP2 116984 broad.mit.edu 37 4 36230379 36230379 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:36230379G>A uc003gsq.2 - 1 1068 c.730C>T c.(730-732)Cca>Tca p.P244S ARAP2_uc003gsr.1_Missense_Mutation_p.P244S NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA. 244 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TTAAAGAATGGGGATGGTGGT 0.388000 65 28 0 0 0.00209593 0 0 A2ML1 144568 broad.mit.edu 37 12 8998761 8998761 + Silent SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:8998761T>C uc001quz.4 + 13 1724 c.1626T>C c.(1624-1626)agT>agC p.S542S A2ML1_uc001qva.1_Silent_p.S122S|A2ML1_uc010sgm.2_Silent_p.S42S NM_144670 NP_653271 B3KVV6 B3KVV6_HUMAN Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA. 386 extracellular space endopeptidase inhibitor activity p.S542G(1) NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TTTTTCCCAGTGGAGGTGTTG 0.463000 67 37 0 0 0.00428921 0 0 EMBP1 647121 broad.mit.edu 37 1 121298369 121298369 + RNA SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:121298369C>T uc001eiu.1 + 1 c.410C>T Homo sapiens embigin pseudogene 1 (EMBP1), non-coding RNA. ATGTAAATCTCACATGCCAGT 0.348000 69 50 0 0 0.00361006 0 0 SEPN1 57190 broad.mit.edu 37 1 26138011 26138011 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:26138011C>T uc021ojk.1 + 7 1132 c.1077C>T c.(1075-1077)atC>atT p.I359I SEPN1_uc021ojl.1_Silent_p.I325I NM_020451 NP_065184 Q9NZV5 SELN_HUMAN Homo sapiens selenoprotein N, 1 (SEPN1), transcript variant 1, mRNA. 359 endoplasmic reticulum membrane|extracellular region protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) AGGTGGACATCGGCTACATAC 0.607000 OREG0013258 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 168 47 0 0 0.00361006 0 0 INTS9 55756 broad.mit.edu 37 8 28625707 28625707 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:28625707C>T uc003xha.3 - 16 2232 c.1933G>A c.(1933-1935)Gtg>Atg p.V645M INTS9_uc011lav.2_Missense_Mutation_p.V621M|INTS9_uc011law.2_Missense_Mutation_p.V624M|INTS9_uc011lax.2_Missense_Mutation_p.V538M|INTS9_uc010lvc.3_Non-coding_Transcript NM_018250 NP_001166033 Q9NV88 INT9_HUMAN Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA. 645 snRNA processing integrator complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) CGCAGTCGCACTCTGAGCATC 0.537000 130 65 0 0 0.00361006 0 0 TPO 7173 broad.mit.edu 37 2 1457514 1457514 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:1457514C>T uc002qwr.3 + 5 617 c.531C>T c.(529-531)ctC>ctT p.L177L TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.L177L|TPO_uc002qwx.3_Silent_p.L177L|TPO_uc002qwu.3_Silent_p.L177L|TPO_uc010yio.2_Silent_p.L177L|TPO_uc010yip.2_Silent_p.L177L NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 177 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CACGATGGCTCCCTCCAGTCT 0.597000 60 27 0 0 0.000878237 0 0 RGPD4 285190 broad.mit.edu 37 2 108487530 108487530 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:108487530G>A uc010ywk.2 + 19 3152 c.3070G>A c.(3070-3072)Gat>Aat p.D1024N RGPD4_uc002tdu.3_Missense_Mutation_p.D211N|RGPD4_uc010ywl.2_Non-coding_Transcript NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 1024 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 CTTTGAGAAAGATGATGATGC 0.398000 222 109 0 0 0.00361006 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147336289 147336289 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:147336289C>T uc003weu.2 + 12 2505 c.1989C>T c.(1987-1989)ctC>ctT p.L663L NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 663 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGACACAGCTCGTTTACAGCG 0.498000 HNSCC(39;0.1) 61 28 0 0 0.00106085 0 0 TLR10 81793 broad.mit.edu 37 4 38774794 38774794 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:38774794C>T uc003gtj.3 - 3 3056 c.2418G>A c.(2416-2418)atG>atA p.M806I TLR10_uc021xnk.1_Missense_Mutation_p.M792I|TLR10_uc003gti.3_Missense_Mutation_p.M806I|TLR10_uc021xnl.1_Missense_Mutation_p.M806I|TLR10_uc003gtk.3_Missense_Mutation_p.M806I|TLR10_uc021xnm.1_Missense_Mutation_p.M806I NM_030956 NP_001182037 Q9BXR5 TLR10_HUMAN Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA. 806 MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 AATCTGTTCTCATCAGAGAGA 0.393000 34 21 0 0 0.00332997 0 0 AOC2 314 broad.mit.edu 37 17 40997478 40997478 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:40997478C>T uc002ibu.3 + 0 870 c.835C>T c.(835-837)Cgg>Tgg p.R279W AOC2_uc002ibt.3_Missense_Mutation_p.R279W NM_009590 NP_033720 O75106 AOC2_HUMAN Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA. 279 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) TAAGTCTGGCCGGTTGGAAGT 0.577000 51 34 0 0 0.00283554 0 0 HYAL4 23553 broad.mit.edu 37 7 123509272 123509272 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:123509272C>T uc003vlc.3 + 2 1583 c.945C>T c.(943-945)ttC>ttT p.F315F HYAL4_uc011knz.2_Silent_p.F315F NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA. 315 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 CTTTATTTTTCCTTTCTAAGG 0.378000 16 7 0 0 0.00198382 0 0 TRPC4 7223 broad.mit.edu 37 13 38357408 38357408 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:38357408C>T uc010abx.3 - 1 298 c.63G>A c.(61-63)agG>agA p.R21R TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Silent_p.R21R|TRPC4_uc001uws.3_Silent_p.R21R|TRPC4_uc010tey.2_Silent_p.R21R|TRPC4_uc010abw.3_Silent_p.R21R|TRPC4_uc010aby.3_Silent_p.R21R NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 21 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CTCTTACTATCCTTAGAGGGA 0.418000 87 39 0 0 0.00128727 0 0 AKR1C3 8644 broad.mit.edu 37 10 5014477 5014477 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:5014477C>T uc001iho.3 + 10 1496 c.655C>T c.(655-657)Ctg>Ttg p.L219L AKR1C3_uc001ihr.3_Intron|AKR1C3_uc001ihq.3_Silent_p.L219L NM_001353 NP_001344 P42330 AK1C3_HUMAN Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1), mRNA. 219 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) CTATAGTGCTCTGGGATCCCA 0.408000 42 20 0 0 0.00188189 0 0 PXDNL 137902 broad.mit.edu 37 8 52359645 52359645 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:52359645C>T uc003xqu.4 - 11 1545 c.1444G>A c.(1444-1446)Gat>Aat p.D482N NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 482 Ig-like C2-type 3. 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) TGGCCTTGATCGTGCTGTGCT 0.473000 98 41 0 0 0.00361006 0 0 KLF17 128209 broad.mit.edu 37 1 44595472 44595472 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:44595472G>A uc001clp.3 + 1 587 c.529G>A c.(529-531)Gtg>Atg p.V177M KLF17_uc009vxf.1_Missense_Mutation_p.V140M NM_173484 NP_775755 Q5JT82 KLF17_HUMAN Homo sapiens Kruppel-like factor 17 (KLF17), mRNA. 177 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) GAACCCTCCAGTGCCTTACCC 0.597000 36 27 0 0 0.00127121 0 0 ZBBX 79740 broad.mit.edu 37 3 167051674 167051674 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:167051674C>T uc011bpc.2 - 9 965 c.628G>A c.(628-630)Gaa>Aaa p.E210K ZBBX_uc003feq.3_Missense_Mutation_p.E181K|ZBBX_uc003fep.3_Missense_Mutation_p.E210K NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 210 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TTACTGGTTTCCTTTGTAGAA 0.348000 49 30 0 0 0.00127121 0 0 UBA1 7317 broad.mit.edu 37 X 47065788 47065788 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:47065788C>T uc004dhj.4 + 15 2034 c.1883C>T c.(1882-1884)tCc>tTc p.S628F UBA1_uc004dhk.4_Missense_Mutation_p.S628F|UBA1_uc004dhm.3_5'Flank NM_153280 NP_695012 P22314 UBA1_HUMAN Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA. 628 cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CCTGAGAAGTCCATCCCCATC 0.572000 12 11 0 0 0.00185496 0 0 RGAG1 57529 broad.mit.edu 37 X 109696331 109696331 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:109696331G>A uc004eor.2 + 2 2732 c.2486G>A c.(2485-2487)gGa>gAa p.G829E RGAG1_uc011msr.1_Missense_Mutation_p.G829E NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA. 829 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 ACAGCCTCTGGAATGATGTCA 0.537000 31 66 0 0 0.00361006 0 0 FAM46D 169966 broad.mit.edu 37 X 79698500 79698500 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:79698500G>A uc022bzm.1 + 0 462 c.462G>A c.(460-462)ggG>ggA p.G154G FAM46D_uc004edl.1_Silent_p.G154G|FAM46D_uc004edm.2_Silent_p.G154G NM_152630 NP_689843 Q8NEK8 FA46D_HUMAN Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA. 154 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 ATAACACTGGGAAGAATTTAG 0.378000 22 28 0 0 0.00106085 0 0 CYP4F22 126410 broad.mit.edu 37 19 15648426 15648426 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:15648426C>T uc002nbh.4 + 5 669 c.502C>T c.(502-504)Ctg>Ttg p.L168L NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA. 168 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 CTTTGACATCCTGAAGCCTTA 0.567000 66 24 0 0 0.00278032 0 0 FRAS1 80144 broad.mit.edu 37 4 79462122 79462122 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:79462122G>A uc003hlb.2 + 73 12323 c.11883G>A c.(11881-11883)cgG>cgA p.R3961R NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 3956 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 ACCCGGACCGGGTGGAGAAGA 0.502000 69 16 0 0 0.000566183 0 0 SEC14L1 6397 broad.mit.edu 37 17 75186987 75186987 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:75186987G>A uc010dhc.3 + 3 486 c.166G>A c.(166-168)Gaa>Aaa p.E56K SEC14L1_uc021udv.1_Missense_Mutation_p.E56K|SEC14L1_uc021udw.1_Missense_Mutation_p.E56K|SEC14L1_uc021udx.1_Missense_Mutation_p.E56K|SEC14L1_uc002jto.3_Missense_Mutation_p.E56K|SEC14L1_uc010wth.2_Missense_Mutation_p.E56K|SEC14L1_uc002jtm.3_Missense_Mutation_p.E56K|SEC14L1_uc010wti.2_Missense_Mutation_p.E22K NM_001039573 NP_001191337 Q92503 S14L1_HUMAN Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA. 56 PRELI/MSF1. transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 TCATGTCATTGAAAGGCGCTG 0.512000 90 29 0 0 0.0024448 0 0 ITGA10 8515 broad.mit.edu 37 1 145539751 145539751 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:145539751C>T uc001eoa.3 + 26 3259 c.3183C>T c.(3181-3183)gtC>gtT p.V1061V ITGA10_uc010oyv.2_Silent_p.V930V|ITGA10_uc009wiw.3_Silent_p.V918V|ITGA10_uc010oyw.2_Intron NM_003637 NP_003628 O75578 ITA10_HUMAN Homo sapiens integrin, alpha 10 (ITGA10), mRNA. 1061 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGACTGAGGTCTCTGTTGGAC 0.488000 24 14 0 0 0.00316338 0 0 STXBP1 6812 broad.mit.edu 37 9 130425628 130425628 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:130425628C>T uc004brk.2 + 6 771 c.574C>T c.(574-576)Cgg>Tgg p.R192W STXBP1_uc004brl.2_Missense_Mutation_p.R192W NM_003165 NP_003156 P61764 STXB1_HUMAN Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA. 192 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 p.R192W(3) breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2) 23 TGTGCGGTATCGGGGGTAAGG 0.612000 60 13 0 0 0.00136819 0 0 ZFHX4 79776 broad.mit.edu 37 8 77761885 77761885 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:77761885C>T uc003yau.2 + 7 4170 c.3783C>T c.(3781-3783)ctC>ctT p.L1261L ZFHX4_uc003yaw.1_Silent_p.L1216L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 1216 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAATGCATCTCCAACTGCATC 0.483000 HNSCC(33;0.089) 35 8 0 0 0.000274275 0 0 GABRG1 2565 broad.mit.edu 37 4 46067418 46067418 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:46067418G>A uc003gxb.3 - 3 657 c.505C>T c.(505-507)Cga>Tga p.R169* NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA. 169 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.R169*(2) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTCCAAATTCGAAGCAGACGA 0.323000 59 21 0 0 0.00278032 0 0 ANKS1A 23294 broad.mit.edu 37 6 34949646 34949646 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:34949646C>T uc003ojx.4 + 3 757 c.615C>T c.(613-615)caC>caT p.H205H ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR|ANKS1A_uc010jvr.1_Non-coding_Transcript NM_015245 NP_056060 Q92625 ANS1A_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA. 205 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TTAATGCACACCCCAACCTCC 0.572000 85 29 0 0 0.001512 0 0 VPS16 64601 broad.mit.edu 37 20 2843460 2843460 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:2843460C>T uc002whe.3 + 12 1259 c.1211C>T c.(1210-1212)tCc>tTc p.S404F PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Intron|VPS16_uc002whg.3_Missense_Mutation_p.S90F NM_022575 NP_072097 Q9H269 VPS16_HUMAN Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA. 404 intracellular protein transport HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 CAGGCCGCCTCCTTCGGAAAG 0.632000 84 46 0 0 0.00361006 0 0 MUC16 94025 broad.mit.edu 37 19 9077276 9077276 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9077276G>A uc002mkp.3 - 2 10374 c.10170C>T c.(10168-10170)acC>acT p.T3390T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3391 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 CCCATGTCTCGGTTTTATGTT 0.443000 167 70 0 0 0.00361006 0 0 SELE 6401 broad.mit.edu 37 1 169697258 169697258 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:169697258G>A uc001ggm.4 - 7 1377 c.1220C>T c.(1219-1221)tCc>tTc p.S407F C1orf112_uc001ggj.3_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN Homo sapiens selectin E (SELE), mRNA. 407 Sushi 4. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) GAGCCTTTTGGATCCCTTCAA 0.463000 82 34 0 0 0.000953801 0 0 PLA2G6 8398 broad.mit.edu 37 22 38508283 38508284 + Missense_Mutation DNP AT CA CA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:38508283_38508284AT>CA uc003auy.1 - 16 2441_2442 c.2305_2306AT>TG c.(2305-2307)atg>TGg p.M769W PLA2G6_uc003auz.1_Missense_Mutation_p.M715W|PLA2G6_uc003ava.1_Missense_Mutation_p.M769W|PLA2G6_uc003avb.2_Missense_Mutation_p.M715W|BAIAP2L2_uc003auw.3_5'Flank|PLA2G6_uc003aux.1_Missense_Mutation_p.H160L NM_003560 NP_003551 O60733 PA2G6_HUMAN Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA. 769 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) CTCATCCAGCATGATGTCCGTC 0.619000 12 5 0 0 6.4e-05 0 0 DNMT1 1786 broad.mit.edu 37 19 10246816 10246816 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:10246816G>A uc002mng.3 - 36 4769 c.4589C>T c.(4588-4590)cCc>cTc p.P1530L DNMT1_uc002mnf.3_Missense_Mutation_p.P454L|DNMT1_uc010xlc.2_Missense_Mutation_p.P1546L|DNMT1_uc002mnh.3_Missense_Mutation_p.P1425L|DNMT1_uc010xld.2_Missense_Mutation_p.P1533L NM_001379 NP_001370 P26358 DNMT1_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA. 1530 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding p.P1530L(2) breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CATGGGCTCGGGGTTGGTGAC 0.652000 29 7 0 0 0.000274275 0 0 PHC3 80012 broad.mit.edu 37 3 169824618 169824618 + Splice_Site SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:169824618A>G uc003fgl.2 - 12 2502 c.2468_splice c.e12+1 p.R823_splice PHC3_uc010hws.1_Splice_Site_p.R811_splice|PHC3_uc011bpq.1_Splice_Site_p.R770_splice NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA. 811 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GCACAGAAATACCTTTTGGCA 0.373000 30 14 0 0 0.00185496 0 0 SYNE2 23224 broad.mit.edu 37 14 64588807 64588807 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:64588807G>A uc001xgl.3 + 68 13466 c.13236G>A c.(13234-13236)caG>caA p.Q4412Q SYNE2_uc001xgm.3_Silent_p.Q4412Q|SYNE2_uc021ruh.1_Silent_p.Q4427Q|SYNE2_uc010apy.3_Silent_p.Q797Q|SYNE2_uc010apz.1_Silent_p.Q304Q NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 4412 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane 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) TGTGGCCCCAGTATTGCCAAC 0.333000 23 32 0 0 0.00178596 0 0 PRR16 51334 broad.mit.edu 37 5 120022286 120022286 + Missense_Mutation SNP G A A rs148660943 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:120022286G>A uc003ksq.3 + 1 960 c.797G>A c.(796-798)gGa>gAa p.G266E PRR16_uc003ksp.3_Missense_Mutation_p.G243E|PRR16_uc003ksr.3_Missense_Mutation_p.G196E NM_016644 NP_057728 Q569H4 PRR16_HUMAN Homo sapiens proline rich 16 (PRR16), mRNA. 266 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) GAAAATGGGGGAATGGGAATA 0.542000 26 11 0 0 0.00136819 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65157146 65157146 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:65157146C>T uc002anv.3 + 5 666 c.532C>T c.(532-534)Ccg>Tcg p.P178S PLEKHO2_uc002anw.3_Missense_Mutation_p.P128S NM_025201 NP_079477 Q8TD55 PKHO2_HUMAN Homo sapiens pleckstrin homology domain containing, family O member 2 (PLEKHO2), transcript variant 1, mRNA. 178 Pro-rich. NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 TCTTGATGTTCCGGACAGTGG 0.592000 38 54 0 0 0.00361006 0 0 KRTAP12-1 353332 broad.mit.edu 37 21 46101782 46101782 + Missense_Mutation SNP C T T rs138110019 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:46101782C>T uc002zfv.3 - 0 297 c.257G>A c.(256-258)aGa>aAa p.R86K TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_181686 NP_859014 P59990 KR121_HUMAN Homo sapiens keratin associated protein 12-1 (KRTAP12-1), mRNA. 86 14 X 5 AA approximate repeats. keratin filament p.R86K(2) kidney(1)|large_intestine(1)|lung(1)|skin(2) 5 GGAGATGGGTCTGCAGAGGAC 0.637000 39 8 0 0 0.00307968 0 0 DNAH8 1769 broad.mit.edu 37 6 38994366 38994366 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:38994366G>A uc021yzh.1 + 91 13868 c.13759G>A c.(13759-13761)Ggc>Agc p.G4587S DNAH8_uc003ooe.2_Missense_Mutation_p.G4370S NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. 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 TGCCCACAAAGGCTGGGCACT 0.493000 39 20 0 0 0.00188189 0 0 EDEM1 9695 broad.mit.edu 37 3 5229907 5229907 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:5229907C>T uc003bqi.3 + 0 549 c.417C>T c.(415-417)gtC>gtT p.V139V EDEM1_uc011asz.1_5'UTR|EDEM1_uc021wsl.1_5'Flank NM_014674 NP_055489 Q92611 EDEM1_HUMAN Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA. 139 ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) GCATGTTCGTCTTTGGCTACG 0.701000 2 4 0 0 0.000602214 0 0 NOP10 55505 broad.mit.edu 37 15 34635360 34635361 + Splice_Site DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:34635360_34635361CC>TT uc001zie.1 - 1 1 c.-87_splice c.e1-1 C15orf55_uc010ucc.2_5'Flank|C15orf55_uc010ucd.2_5'Flank|C15orf55_uc001zif.3_5'Flank NM_018648 NP_061118 Q9NPE3 NOP10_HUMAN Homo sapiens NOP10 ribonucleoprotein homolog (yeast) (NOP10), mRNA. pseudouridine synthesis|rRNA processing Cajal body|nucleolus|small nucleolar ribonucleoprotein complex protein binding lung(1)|ovary(1) 2 TCGTCAATTTCCTTCCTGCATA 0.540000 OREG0023034 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 4 0 0 6.4e-05 0 0 AZGP1 563 broad.mit.edu 37 7 99566050 99566050 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:99566050G>A uc003ush.3 - 2 433 c.341C>T c.(340-342)tCt>tTt p.S114F NM_001185 NP_001176 P25311 ZA2G_HUMAN Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA. 114 antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation MHC class I protein complex|extracellular region fatty acid binding|protein transmembrane transporter activity|ribonuclease activity p.G113R(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1) 16 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) CAATACGTGAGACCCTGAAAA 0.433000 190 76 0 0 0.00361006 0 0 TLR4 7099 broad.mit.edu 37 9 120470924 120470925 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:120470924_120470925GG>AA uc004bjz.3 + 1 468_469 c.177_178GG>AA c.(175-180)ctggac>ctAAac p.D60N TLR4_uc004bkb.3_Intron|TLR4_uc004bka.3_Missense_Mutation_p.D20N NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 60 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity p.D60E(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 CCAAGAACCTGGACCTGAGCTT 0.431000 88 99 0 0 6.4e-05 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43828092 43828092 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:43828092G>A uc004ada.2 + 8 1758 c.1348G>A c.(1348-1350)Gat>Aat p.D450N CNTNAP3B_uc004acz.2_Non-coding_Transcript NM_001201380 NP_001188309 Q96NU0 CNT3B_HUMAN Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA. 450 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 TGGATTAAACGATGGGCAGTG 0.448000 74 33 0 0 0.00111076 0 0 ROBO4 54538 broad.mit.edu 37 11 124766556 124766556 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:124766556C>T uc001qbg.3 - 2 551 c.411G>A c.(409-411)gaG>gaA p.E137E ROBO4_uc010sas.2_5'UTR|ROBO4_uc001qbh.2_Silent_p.E27E|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA. 137 Ig-like C2-type 2. angiogenesis|cell differentiation integral to membrane receptor activity p.R136L(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TCTGGAAATCCTCCCGGAGGA 0.612000 6 4 0 0 0.00116845 0 0 PPP2CB 5516 broad.mit.edu 37 8 30655114 30655114 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:30655114C>T uc003xik.3 - 2 884 c.469G>A c.(469-471)Gct>Act p.A157T NM_001009552 NP_001009552 P62714 PP2AB_HUMAN Homo sapiens protein phosphatase 2, catalytic subunit, beta isozyme (PPP2CB), mRNA. 157 protein dephosphorylation chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole metal ion binding breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 9 KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114) Vitamin E(DB00163) TCTACTAAAGCTGTAAGTGGA 0.383000 47 16 0 0 0.000958276 0 0 KIF2B 84643 broad.mit.edu 37 17 51900950 51900950 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:51900950G>A uc002iua.2 + 0 712 c.556G>A c.(556-558)Gaa>Aaa p.E186K KIF2B_uc010wna.1_Non-coding_Transcript NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN Homo sapiens kinesin family member 2B (KIF2B), mRNA. 186 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CCCCAACTACGAAATCATGCA 0.567000 72 8 0 0 0.00307968 0 0 GOLGA3 2802 broad.mit.edu 37 12 133393269 133393269 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:133393269G>A uc001ukz.1 - 2 822 c.263C>T c.(262-264)cCa>cTa p.P88L GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.P88L|GOLGA3_uc001ulb.3_Missense_Mutation_p.P88L NM_005895 NP_005886 Q08378 GOGA3_HUMAN Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA. 88 Pro-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) AGGGCCCACTGGGCTTGTGGT 0.597000 45 17 0 0 0.00229938 0 0 FCGBP 8857 broad.mit.edu 37 19 40380328 40380328 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:40380328T>A uc002omp.4 - 22 10995 c.10987A>T c.(10987-10989)Acc>Tcc p.T3663S NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 3663 VWFD 9. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGAAGGTGGTGTAGTGGGGA 0.677000 23 12 0 0 0.00136819 0 0 MRC2 9902 broad.mit.edu 37 17 60741970 60741970 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:60741970G>A uc002jad.3 + 1 582 c.180G>A c.(178-180)ggG>ggA p.G60G Y_RNA_uc021ubi.1_5'Flank NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN Homo sapiens mannose receptor, C type 2 (MRC2), mRNA. 60 Ricin B-type lectin. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CCCAGGGCGGGCAGGTCAGAG 0.622000 70 22 0 0 0.00229938 0 0 BCR 613 broad.mit.edu 37 22 23524071 23524071 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:23524071C>T uc002zww.3 + 0 1520 c.924C>T c.(922-924)cgC>cgT p.R308R BCR_uc002zwx.3_Silent_p.R308R NM_004327 NP_004318 P11274 BCR_HUMAN Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA. 308 Binding to ABL SH2-domain.|Kinase. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity p.R308L(1) BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 AGGAGAAGCGCCTTACCTGGC 0.642000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 19 10 0 0 0.000673444 0 0 DCHS2 54798 broad.mit.edu 37 4 155242369 155242369 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:155242369G>A uc003inw.2 - 13 2817 c.2817C>T c.(2815-2817)atC>atT p.I939I NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 939 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGGATAGTGGGATCACCTGAA 0.284000 24 21 0 0 0.00332997 0 0 KIF2C 11004 broad.mit.edu 37 1 45226020 45226020 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:45226020G>A uc001cmg.4 + 14 1551 c.1436G>A c.(1435-1437)cGa>cAa p.R479Q KIF2C_uc010olb.2_Missense_Mutation_p.R438Q|KIF2C_uc010olc.2_Missense_Mutation_p.R366Q|KIF2C_uc001cmh.4_Missense_Mutation_p.R425Q NM_006845 NP_006836 Q99661 KIF2C_HUMAN Homo sapiens kinesin family member 2C (KIF2C), mRNA. 479 Kinesin-motor. blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1) 34 Acute lymphoblastic leukemia(166;0.155) ATTATTCTTCGAGCTAAAGGG 0.527000 47 25 0 0 0.000878237 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420485 55420485 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:55420485C>T uc001sgp.4 + 1 640 c.262C>T c.(262-264)Cga>Tga p.R88* NEUROD4_uc021qyr.1_Nonsense_Mutation_p.R88* NM_021191 NP_067014 Q9HD90 NDF4_HUMAN Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA. 88 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R88*(4) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 ATTCAGGGCTCGAAGAGTCAA 0.507000 37 12 0 0 0.00136819 0 0 CTCF 10664 broad.mit.edu 37 16 67662404 67662404 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:67662404C>T uc002etl.3 + 8 2094 c.1650C>T c.(1648-1650)ttC>ttT p.F550F CTCF_uc010cek.3_Silent_p.F222F|CTCF_uc002etm.1_Silent_p.F39F NM_006565 NP_001177951 P49711 CTCF_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA. 550 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) ACCCCAACTTCGTCCCTGCGG 0.502000 88 42 0 0 0.00361006 0 0 C7orf29 113763 broad.mit.edu 37 7 150027858 150027858 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:150027858C>T uc003wgy.3 + 0 921 c.365C>T c.(364-366)cCc>cTc p.P122L LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron NM_138434 NP_612443 Q96FA7 CG029_HUMAN Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA. 122 endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2) 9 OV - Ovarian serous cystadenocarcinoma(82;0.011) TCCCCAAGTCCCCTGCAAAGC 0.607000 29 13 0 0 0.00316338 0 0 EPB41L2 2037 broad.mit.edu 37 6 131191166 131191166 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:131191166G>A uc003qch.2 - 14 2326 c.2144C>T c.(2143-2145)tCa>tTa p.S715L EPB41L2_uc003qce.1_Missense_Mutation_p.S93L|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc010kfl.2_Missense_Mutation_p.S645L|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc003qci.3_Missense_Mutation_p.S645L|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Missense_Mutation_p.S112L NM_001431 NP_001422 O43491 E41L2_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA. 715 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) ACTCCCAGGTGATATCTCTTT 0.488000 26 6 0 0 0.00116845 0 0 ODZ4 26011 broad.mit.edu 37 11 78412733 78412733 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:78412733A>G uc001ozl.4 - 27 5388 c.4925T>C c.(4924-4926)cTg>cCg p.L1642P NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 1642 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 TGGGACCACCAGCCAGAGGGG 0.547000 18 11 0 0 0.00136819 0 0 PRB3 5544 broad.mit.edu 37 12 11420974 11420975 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:11420974_11420975CC>TT uc001qzs.3 - 2 246_247 c.208_209GG>AA c.(208-210)ggt>AAt p.G70N PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA. 70 10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich. extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) AGGTGGGGGACCTTGGGACTGG 0.624000 118 37 0 0 6.4e-05 0 0 NIPBL 25836 broad.mit.edu 37 5 37048731 37048731 + Silent SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:37048731C>A uc003jkl.4 + 38 7216 c.6717C>A c.(6715-6717)acC>acA p.T2239T NIPBL_uc003jkk.4_Silent_p.T2239T|NIPBL_uc003jkn.3_5'Flank NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA. 2239 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ACCTCCAGACCTACCTACAAG 0.294000 54 6 0.00116845 0.00365189 0.00116845 1 0 OR2T2 401992 broad.mit.edu 37 1 248616432 248616432 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:248616432G>A uc001iek.1 + 0 334 c.334G>A c.(334-336)Gaa>Aaa p.E112K NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA. 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATTGGAGGGGAATTCTTCCT 0.537000 149 21 0 0 0.00332997 0 0 ACOT12 134526 broad.mit.edu 37 5 80628307 80628307 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:80628307G>A uc003khl.4 - 12 1435 c.1380C>T c.(1378-1380)ccC>ccT p.P460P RNU5E-1_uc011cto.1_Intron NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA. 460 START. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) CATCTTTGAGGGGTTTTCTTC 0.368000 42 20 0 0 0.00229938 0 0 ANKRD42 338699 broad.mit.edu 37 11 82936039 82936039 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:82936039C>T uc010rsv.1 + 5 1151 c.729C>T c.(727-729)aaC>aaT p.N243N ANKRD42_uc001ozz.1_Silent_p.N215N|ANKRD42_uc001paa.3_Silent_p.N243N|ANKRD42_uc001pab.1_Silent_p.N242N Q8N9B4 ANR42_HUMAN Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA. 215 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 TCAAGCAGAACATTTTACAGT 0.378000 28 15 0 0 0.00074312 0 0 LY75-CD302 100526664 broad.mit.edu 37 2 160750531 160750531 + Silent SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:160750531C>A uc002ubb.4 - 2 605 c.531G>T c.(529-531)ggG>ggT p.G177G LY75-CD302_uc010fos.3_Silent_p.G177G|LY75-CD302_uc002ubc.4_Silent_p.G177G|LY75-CD302_uc010fot.2_Silent_p.G177G NM_001198759 NP_001185688 O60449 LY75_HUMAN Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA. 177 Fibronectin type-II. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding GATGCCAGGTCCCATCAATTA 0.433000 38 17 4.7546e-09 1.4968e-08 0.00400662 1 0 CDK20 23552 broad.mit.edu 37 9 90584726 90584726 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:90584726G>A uc004apr.3 - 5 1006 c.672C>T c.(670-672)aaC>aaT p.N224N CDK20_uc004aps.3_Silent_p.N203N|CDK20_uc022bjj.1_Silent_p.N203N|CDK20_uc004apt.3_Silent_p.N216N|CDK20_uc004apu.3_Intron NM_001039803 NP_001034892 Q8IZL9 CDK20_HUMAN Homo sapiens cyclin-dependent kinase 20 (CDK20), transcript variant 3, mRNA. 224 Protein kinase. cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity skin(1) 1 AGACTTGAGGGTTTGGGGTGC 0.567000 48 14 0 0 0.00316338 0 0 IFNK 56832 broad.mit.edu 37 9 27524689 27524689 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:27524689G>A uc022bez.1 + 0 355 c.355G>A c.(355-357)Gat>Aat p.D119N MOB3B_uc003zqn.3_Intron|IFNK_uc003zqp.3_Missense_Mutation_p.D119N NM_020124 NP_064509 Q9P0W0 IFNK_HUMAN Homo sapiens interferon, kappa (IFNK), mRNA. 119 cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus extracellular space cytokine activity|interferon-alpha/beta receptor binding large_intestine(1) 1 all_neural(11;7.9e-11) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158) AATAGGACTTGATCAGCAAGC 0.413000 69 39 0 0 0.00321405 0 0 PHTF1 10745 broad.mit.edu 37 1 114280739 114280739 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:114280739G>A uc009wgp.1 - 3 776 c.324C>T c.(322-324)ttC>ttT p.F108F PHTF1_uc001edn.3_Silent_p.F108F NM_006608 NP_006599 Q9UMS5 PHTF1_HUMAN Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA. 108 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TACCTTGCATGAAATAAAGTA 0.343000 37 9 0 0 0.000978159 0 0 STK24 8428 broad.mit.edu 37 13 99115960 99115960 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:99115960G>A uc001vnm.1 - 6 1185 c.950C>T c.(949-951)tCc>tTc p.S317F STK24_uc001vnn.1_Missense_Mutation_p.S305F|STK24_uc010tim.1_Missense_Mutation_p.S286F NM_003576 NP_003567 Q9Y6E0 STK24_HUMAN Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA. 317 cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GGAATCCTCGGAGCTCGAGTC 0.522000 20 7 0 0 0.00307968 0 0 DPPA3 359787 broad.mit.edu 37 12 7867918 7867918 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:7867918C>T uc001qtf.3 + 1 300 c.222C>T c.(220-222)atC>atT p.I74I NM_199286 NP_954980 Q6W0C5 DPPA3_HUMAN Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA. 74 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) TCAGGGAAATCGAAGATGAGT 0.468000 21 13 0 0 0.00136819 0 0 BLM 641 broad.mit.edu 37 15 91308595 91308596 + Missense_Mutation DNP CC AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:91308595_91308596CC>AA uc002bpr.3 + 8 2241_2242 c.2144_2145CC>AA c.(2143-2145)ccc>cAA p.P715Q BLM_uc010uqh.2_Missense_Mutation_p.P715Q|BLM_uc010uqi.2_Missense_Mutation_p.P340Q|BLM_uc010bnx.3_Missense_Mutation_p.P715Q NM_000057 NP_000048 P54132 BLM_HUMAN Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA. 715 Helicase ATP-binding. G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray PML body|cytoplasm|lateral element|nuclear matrix|nucleolus ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) GTCATTTCTCCCTTGAGATCAC 0.376000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 693 15 0 0 6.4e-05 0 0 CLUL1 27098 broad.mit.edu 37 18 619283 619283 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:619283G>A uc010wys.2 + 4 567 c.333G>A c.(331-333)atG>atA p.M111I CLUL1_uc002kkp.3_Missense_Mutation_p.M59I|CLUL1_uc002kkq.3_Missense_Mutation_p.M59I NM_199167 NP_954636 Q15846 CLUL1_HUMAN Homo sapiens clusterin-like 1 (retinal) (CLUL1), transcript variant 2, mRNA. 59 cell death extracellular region p.D111H(1) NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1) 24 TTAAGCAAATGAAAATCATGA 0.378000 27 13 0 0 0.00185496 0 0 TCTN2 79867 broad.mit.edu 37 12 124192218 124192218 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:124192218C>T uc001ufp.3 + 17 2180 c.2052C>T c.(2050-2052)ttC>ttT p.F684F TCTN2_uc009zya.3_Silent_p.F683F NM_024809 NP_079085 Q96GX1 TECT2_HUMAN Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA. 684 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TGGCCTTGTTCCTCAGCAACC 0.448000 76 42 0 0 0.00361006 0 0 OR56B1 387748 broad.mit.edu 37 11 5758025 5758025 + Silent SNP C T T rs141704797 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:5758025C>T uc001mbt.2 + 0 348 c.279C>T c.(277-279)atC>atT p.I93I TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Silent_p.I93I|OR56B1_uc009yev.1_Silent_p.I93I NM_001005180 NP_001005180 Q8NGI3 O56B1_HUMAN Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) TCCTGGCCATCTTCTGGTTTG 0.468000 39 9 0 0 0.000673444 0 0 LEPREL1 55214 broad.mit.edu 37 3 189690747 189690747 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:189690747G>A uc011bsk.2 - 10 2003 c.1615C>T c.(1615-1617)Cga>Tga p.R539* LEPREL1_uc003fsg.3_Nonsense_Mutation_p.R358* NM_018192 NP_001127890 Q8IVL5 P3H2_HUMAN Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA. 539 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation Golgi apparatus|basement membrane|endoplasmic reticulum L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ACAATCCTTCGAGCCTTTTCG 0.413000 31 11 0 0 0.00136819 0 0 ZNF208 7757 broad.mit.edu 37 19 22156654 22156654 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:22156654C>T uc021urr.1 - 3 1331 c.1182G>A c.(1180-1182)gaG>gaA p.E394E ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TGTAGGGTTTCTCTCCAGTAT 0.383000 50 30 0 0 0.00327116 0 0 PLCB4 5332 broad.mit.edu 37 20 9319670 9319670 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:9319670C>T uc021wam.1 + 3 370 c.355C>T c.(355-357)Cca>Tca p.P119S PLCB4_uc010gbw.1_Missense_Mutation_p.P119S|PLCB4_uc010gbx.3_Missense_Mutation_p.P119S|PLCB4_uc021wal.1_Missense_Mutation_p.P119S NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 119 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GGCTGAAAATCCAGAAGTAAC 0.378000 33 15 0 0 0.000958276 0 0 MYH8 4626 broad.mit.edu 37 17 10297710 10297710 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10297710C>T uc002gmm.2 - 34 5117 c.5022G>A c.(5020-5022)ctG>ctA p.L1674L AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1674 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin 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 CCACAATTGCCAGCTGTTCCT 0.542000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 17 12 0 0 0.000978159 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069353 114069353 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:114069353G>A uc003ebi.3 - 3 1752 c.1572C>T c.(1570-1572)ttC>ttT p.F524F ZBTB20_uc003ebj.3_Silent_p.F451F|ZBTB20_uc010hqp.3_Silent_p.F451F|ZBTB20_uc003ebk.3_Silent_p.F451F|ZBTB20_uc003ebl.3_Silent_p.F451F|ZBTB20_uc003ebm.3_Silent_p.F451F|ZBTB20_uc003ebn.3_Silent_p.F451F|ZBTB20-AS1_uc003ebo.2_5'Flank NM_001164342 NP_056457 Q9HC78 ZBT20_HUMAN Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA. 524 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) GGCTGAAGAGGAAAGGCTTGG 0.632000 43 16 0 0 0.000566183 0 0 DEFB115 245929 broad.mit.edu 37 20 29847306 29847306 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:29847306G>A uc002wvp.1 + 1 138 c.138G>A c.(136-138)agG>agA p.R46R NM_001037730 NP_001032819 Q30KQ5 DB115_HUMAN Homo sapiens defensin, beta 115 (DEFB115), mRNA. 46 defense response to bacterium extracellular region kidney(1)|lung(3)|ovary(1)|skin(1) 6 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) GCAGATGCAGGAAATCATGCA 0.328000 37 11 0 0 0.00185496 0 0 C2orf16 84226 broad.mit.edu 37 2 27802554 27802554 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:27802554G>A uc002rkz.4 + 0 3166 c.3115G>A c.(3115-3117)Gat>Aat p.D1039N NM_032266 NP_115642 Q68DN1 CB016_HUMAN Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA. 1039 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CATATTTTACGATAGAGAAGA 0.453000 81 49 0 0 0.00361006 0 0 SIRPB1 10326 broad.mit.edu 37 20 1551638 1551638 + Silent SNP C T T rs138084629 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:1551638C>T uc010gai.3 - 3 996 c.897G>A c.(895-897)tcG>tcA p.S299S SIRPB1_uc002wfk.4_Intron NM_006065 NP_006056 O00241 SIRB1_HUMAN Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA. 299 Ig-like C1-type 2. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.S299L(1) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CTATGAGGGTCGAAGCTGTTT 0.562000 37 22 0 0 0.00395357 0 0 SPRY3 10251 broad.mit.edu 37 X 155004345 155004345 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:155004345G>A uc022cio.1 + 0 812 c.812G>A c.(811-813)aGa>aAa p.R271K SPRY3_uc004fnq.1_Missense_Mutation_p.R271K NM_005840 NP_005831 O43610 SPY3_HUMAN Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA. 271 multicellular organismal development|regulation of signal transduction cytoplasm|membrane 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) ACTGTGTGCAGAAAGATCTCT 0.562000 87 41 0 0 0.00128727 0 0 TRBV4-2 28616 broad.mit.edu 37 7 142045754 142045754 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:142045754C>T uc003vxp.4 + 1 391 c.282C>T c.(280-282)ttC>ttT p.F94F TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; CTCACTTATTCCTTCACCTAC 0.502000 105 63 0 0 0.00361006 0 0 OR51G2 81282 broad.mit.edu 37 11 4936891 4936891 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:4936891C>T uc001lzr.1 - 0 3 c.3G>A c.(1-3)atG>atA p.M1I NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA. 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCCCAGGGTCATTGTGTGAG 0.527000 21 14 0 0 0.00244969 0 0 TAF1L 138474 broad.mit.edu 37 9 32633981 32633981 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:32633981G>A uc003zrg.1 - 0 1687 c.1597C>T c.(1597-1599)Cct>Tct p.P533S AX747113_uc003zrh.1_Non-coding_Transcript NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 533 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TTCTCATCAGGAATTTCCAAA 0.483000 44 36 0 0 0.00428921 0 0 HSPB9 94086 broad.mit.edu 37 17 40274945 40274945 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:40274945G>A uc002hyy.2 + 0 190 c.77G>A c.(76-78)cGg>cAg p.R26Q KAT2A_uc002hyx.2_5'Flank NM_033194 NP_149971 Q9BQS6 HSPB9_HUMAN Homo sapiens heat shock protein, alpha-crystallin-related, B9 (HSPB9), mRNA. 26 response to stress cytoplasm|nucleus protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 4 all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866) BRCA - Breast invasive adenocarcinoma(366;0.124) CTTGCTGAACGGAACCGGGTG 0.602000 39 22 0 0 0.00332997 0 0 FAM83B 222584 broad.mit.edu 37 6 54792355 54792355 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:54792355G>A uc003pck.3 + 3 775 c.659G>A c.(658-660)gGg>gAg p.G220E NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 220 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TCAAAAACAGGGGCAAAATTC 0.333000 62 35 0 0 0.00428921 0 0 GRIN2B 2904 broad.mit.edu 37 12 13761582 13761582 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:13761582G>A uc001rbt.2 - 8 2144 c.1965C>T c.(1963-1965)atC>atT p.I655I NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 655 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATTCCTCTTGGATCATGAAGG 0.498000 24 16 0 0 0.00400662 0 0 CUZD1 50624 broad.mit.edu 37 10 124591942 124591942 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:124591942T>C uc001lgs.3 - 10 2627 c.1676A>G c.(1675-1677)gAa>gGa p.E559G CUZD1_uc001lgp.3_Missense_Mutation_p.E278G|CUZD1_uc009yad.3_Missense_Mutation_p.E278G|CUZD1_uc009yaf.3_Missense_Mutation_p.E193G|CUZD1_uc001lgr.3_Missense_Mutation_p.E278G|CUZD1_uc010qty.2_Missense_Mutation_p.E278G|CUZD1_uc009yae.3_Missense_Mutation_p.E278G|CUZD1_uc010qtz.2_Missense_Mutation_p.E559G NM_022034 NP_071317 Q86UP6 CUZD1_HUMAN Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA. 559 cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) TGGAGTTTCTTCCGCATGTGT 0.368000 35 24 0 0 0.00127121 0 0 POLR3E 55718 broad.mit.edu 37 16 22328451 22328451 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:22328451C>T uc002dkk.3 + 11 945 c.789C>T c.(787-789)gcC>gcT p.A263A POLR3E_uc002dkj.1_Silent_p.A263A|POLR3E_uc002dkm.3_Silent_p.A227A|POLR3E_uc010vbr.2_Silent_p.A263A|POLR3E_uc002dkl.3_Silent_p.A263A|POLR3E_uc010vbs.2_Silent_p.A227A|POLR3E_uc010vbt.2_Silent_p.A207A NM_018119 NP_060589 Q9NVU0 RPC5_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide E (80kD) (POLR3E), mRNA. 263 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) AGCCTGTGGCCCCCAGCAACG 0.632000 59 25 0 0 0.00209593 0 0 PLA2G6 8398 broad.mit.edu 37 22 38565319 38565319 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:38565319G>A uc003auy.1 - 1 251 c.115C>T c.(115-117)Cgg>Tgg p.R39W PLA2G6_uc003auz.1_Missense_Mutation_p.R39W|PLA2G6_uc003ava.1_Missense_Mutation_p.R39W|PLA2G6_uc003avb.2_Missense_Mutation_p.R39W|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc011ano.1_Missense_Mutation_p.R39W NM_003560 NP_003551 O60733 PA2G6_HUMAN Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA. 39 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) CCTTCCTCCCGAACTCGGTCA 0.587000 21 9 0 0 0.000274275 0 0 SCAF1 58506 broad.mit.edu 37 19 50149840 50149840 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:50149840C>T uc002poq.3 + 4 443 c.319C>T c.(319-321)Ccg>Tcg p.P107S NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA. 107 RNA splicing|mRNA processing nucleus RNA binding p.P107P(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) CCTGGATCCCCCGGATACCTG 0.657000 37 21 0 0 0.00395357 0 0 A2ML1 144568 broad.mit.edu 37 12 9010680 9010680 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:9010680C>T uc001quz.4 + 25 3344 c.3246C>T c.(3244-3246)ctC>ctT p.L1082L A2ML1_uc001qva.1_Silent_p.L662L|A2ML1_uc010sgm.2_Silent_p.L582L NM_144670 NP_653271 B3KVV6 B3KVV6_HUMAN Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA. 926 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TGGGAAATCTCCTTCACACAG 0.527000 17 13 0 0 0.00316338 0 0 ABL2 27 broad.mit.edu 37 1 179084119 179084119 + Silent SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:179084119T>C uc001gmj.4 - 8 1742 c.1455A>G c.(1453-1455)ccA>ccG p.P485P ABL2_uc010pnf.2_Silent_p.P485P|ABL2_uc010png.2_Silent_p.P464P|ABL2_uc010pnh.2_Silent_p.P464P|ABL2_uc009wxe.3_Silent_p.P464P|ABL2_uc001gmg.4_Silent_p.P470P|ABL2_uc001gmi.4_Silent_p.P470P|ABL2_uc010pne.2_Silent_p.P449P NM_007314 NP_009298 P42684 ABL2_HUMAN Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA. 485 Protein kinase. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TACCTGGATATGGTGACATTC 0.393000 T ETV6 AML 83 29 0 0 0.00128727 0 0 TUFM 7284 broad.mit.edu 37 16 28855798 28855799 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:28855798_28855799GG>AA uc002drh.2 - 5 897_898 c.758_759CC>TT c.(757-759)ccc>cTT p.P253L NPIPL1_uc010vct.2_Intron|TUFM_uc021tft.1_5'Flank|SH2B1_uc002dri.3_5'Flank NM_003321 NP_003312 P49411 EFTU_HUMAN Homo sapiens Tu translation elongation factor, mitochondrial (TUFM), nuclear gene encoding mitochondrial protein, mRNA. 250 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 GGTCCCGGGCGGGCACTGGGAT 0.599000 24 10 0 0 6.4e-05 0 0 DNMT3A 1788 broad.mit.edu 37 2 25469100 25469101 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:25469100_25469101GG>AA uc002rgc.3 - 10 1614_1615 c.1357_1358CC>TT c.(1357-1359)cca>TTa p.P453L DNMT3A_uc002rgd.3_Missense_Mutation_p.P453L|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Missense_Mutation_p.P264L NM_022552 NP_783328 Q9Y6K1 DNM3A_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA. 453 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTTTTGGCTGGTGGAGGTGGT 0.559000 """Mis, F, N, S""" AML 82 32 0 0 6.4e-05 0 0 COL11A2 1302 broad.mit.edu 37 6 33135606 33135606 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:33135606G>A uc003ocx.1 - 54 4212 c.3984C>T c.(3982-3984)tcC>tcT p.S1328S COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.S1242S|COL11A2_uc003ocz.1_Silent_p.S1221S NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 1328 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GTCGCCCCTCGGAACCAGGCG 0.652000 36 9 0 0 0.000978159 0 0 SDK2 54549 broad.mit.edu 37 17 71426669 71426669 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:71426669C>T uc010dfm.3 - 11 1564 c.1564G>A c.(1564-1566)Gac>Aac p.D522N SDK2_uc010dfn.2_Missense_Mutation_p.D201N NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 522 Ig-like C2-type 6. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 ACTCGGGGGTCGTGGGTCACT 0.607000 10 6 0 0 0.000274275 0 0 DGKK 139189 broad.mit.edu 37 X 50136221 50136221 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:50136221G>A uc010njr.2 - 8 1568 c.1524C>T c.(1522-1524)ttC>ttT p.F508F NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA. 508 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) ATTTTCGGAGGAAGACGATCC 0.453000 7 17 0 0 0.00074312 0 0 MADD 8567 broad.mit.edu 37 11 47296350 47296350 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:47296350C>T uc001ner.1 + 2 490 c.299C>T c.(298-300)tCc>tTc p.S100F MADD_uc001neq.2_Missense_Mutation_p.S100F|MADD_uc001nev.1_Missense_Mutation_p.S100F|MADD_uc001nes.1_Missense_Mutation_p.S100F|MADD_uc001net.1_Missense_Mutation_p.S100F|MADD_uc009yln.1_Missense_Mutation_p.S100F|MADD_uc001neu.1_Missense_Mutation_p.S100F|MADD_uc001nez.2_Missense_Mutation_p.S100F|MADD_uc001new.2_Missense_Mutation_p.S100F|MADD_uc001nex.2_Missense_Mutation_p.S100F NM_003682 NP_003673 Q8WXG6 MADD_HUMAN Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA. 100 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) TTCTACCGCTCCTTCCAAAAG 0.557000 25 11 0 0 0.00136819 0 0 OR4C13 283092 broad.mit.edu 37 11 49974218 49974218 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:49974218G>A uc010rhz.2 + 0 276 c.244G>A c.(244-246)Gat>Aat p.D82N NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA. 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 GCTGATCACAGATTCACTCTA 0.418000 140 49 0 0 0.00361006 0 0 IZUMO2 126123 broad.mit.edu 37 19 50655885 50655885 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:50655885C>T uc002prp.1 - 6 734 c.647G>A c.(646-648)cGa>cAa p.R216Q NM_152358 NP_689571 Q6UXV1 IZUM2_HUMAN Homo sapiens IZUMO family member 2 (IZUMO2), mRNA. 216 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 CAGGAGTTTTCGGTTTTGTCT 0.403000 193 87 0 0 0.00361006 0 0 RASGRP3 25780 broad.mit.edu 37 2 33749041 33749041 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:33749041G>A uc002rox.3 + 8 1239 c.612G>A c.(610-612)tgG>tgA p.W204* RASGRP3_uc010ync.2_Nonsense_Mutation_p.W204*|RASGRP3_uc002roy.3_Nonsense_Mutation_p.W204* NM_170672 NP_733772 Q8IV61 GRP3_HUMAN Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA. 204 Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) TCTCTAAGTGGGTCCAGTTGA 0.428000 150 56 0 0 0.00361006 0 0 ZC3H18 124245 broad.mit.edu 37 16 88691074 88691074 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:88691074C>T uc010voz.2 + 12 2235 c.2035C>T c.(2035-2037)Cct>Tct p.P679S ZC3H18_uc002fky.3_Missense_Mutation_p.P655S|ZC3H18_uc010chw.3_Non-coding_Transcript|ZC3H18_uc002fkz.3_5'Flank NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA. 655 Ser-rich. nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) AACCACTGCTCCTGTCCCCGA 0.692000 12 7 0 0 0.000673444 0 0 RYR1 6261 broad.mit.edu 37 19 38939053 38939053 + Missense_Mutation SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:38939053G>T uc002oit.3 + 9 989 c.859G>T c.(859-861)Ggg>Tgg p.G287W RYR1_uc002oiu.3_Missense_Mutation_p.G287W NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 287 MIR 4. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGTCACTACCGGGCAGTACCT 0.652000 91 5 0.00116845 0.00365189 0.00116845 1 0 KRT1 3848 broad.mit.edu 37 12 53069116 53069117 + Missense_Mutation DNP GA AT AT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:53069116_53069117GA>AT uc001sau.1 - 8 1854_1855 c.1795_1796TC>AT c.(1795-1797)tct>ATt p.S599I KRT1_uc001sav.1_Missense_Mutation_p.S592I NM_006121 NP_006112 P04264 K2C1_HUMAN Homo sapiens keratin 1 (KRT1), mRNA. 599 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 CCGgccgccagagctgccgccg 0.713000 11 10 0 0 6.4e-05 0 0 MUC16 94025 broad.mit.edu 37 19 9087822 9087822 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9087822C>T uc002mkp.3 - 0 4197 c.3993G>A c.(3991-3993)aaG>aaA p.K1331K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1331 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 AACTTGTATCCTTAGGATCCG 0.522000 42 16 0 0 0.000566183 0 0 DNM1P46 196968 broad.mit.edu 37 15 100332974 100332974 + RNA SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:100332974G>A uc021sxl.1 - 1 c.179C>T DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA. GGGCAGGGGAGGCTCTCACTG 0.627000 76 5 0 0 0.000958276 0 0 HIVEP2 3097 broad.mit.edu 37 6 143081087 143081087 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:143081087G>A uc003qjd.3 - 8 7081 c.6338C>T c.(6337-6339)cCa>cTa p.P2113L NM_006734 NP_006725 P31629 ZEP2_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA. 2113 10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TGGCCTCCTTGGAGACAAATG 0.468000 26 11 0 0 0.000673444 0 0 SEZ6L 23544 broad.mit.edu 37 22 26694973 26694973 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:26694973C>T uc003acb.3 + 4 1382 c.1186C>T c.(1186-1188)Ccc>Tcc p.P396S SEZ6L_uc003acd.3_Missense_Mutation_p.P396S|SEZ6L_uc011akd.2_Missense_Mutation_p.P396S|SEZ6L_uc003ace.3_Missense_Mutation_p.P396S|SEZ6L_uc011akc.2_Missense_Mutation_p.P396S|SEZ6L_uc003acc.3_Missense_Mutation_p.P396S|SEZ6L_uc003acf.1_Missense_Mutation_p.P169S|SEZ6L_uc010gvc.1_Missense_Mutation_p.P169S NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 396 Sushi 1. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CTGCAACTTTCCCCGCCGGCC 0.592000 28 14 0 0 0.000566183 0 0 RAI1 10743 broad.mit.edu 37 17 17701563 17701563 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:17701563C>T uc002grm.3 + 2 5770 c.5301C>T c.(5299-5301)ggC>ggT p.G1767G RAI1_uc002grn.1_Silent_p.G1767G NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN Homo sapiens retinoic acid induced 1 (RAI1), mRNA. 1767 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) CCAAGCAGGGCCCACTGCGCA 0.706000 0 5 0 0 0.00198382 0 0 SLC29A3 55315 broad.mit.edu 37 10 73121932 73121932 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:73121932C>T uc001jrr.4 + 5 1052 c.995C>T c.(994-996)tCc>tTc p.S332F SLC29A3_uc001jrs.4_3'UTR|SLC29A3_uc010qjq.2_Missense_Mutation_p.S186F|SLC29A3_uc001jrt.4_Missense_Mutation_p.S126F NM_018344 NP_060814 Q9BZD2 S29A3_HUMAN Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA. 332 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 AACATCGAGTCCCTCAACAAG 0.567000 88 68 0 0 0.00361006 0 0 CD163L1 283316 broad.mit.edu 37 12 7556136 7556136 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:7556136C>T uc010sge.2 - 5 1459 c.1433G>A c.(1432-1434)tGt>tAt p.C478Y CD163L1_uc001qsy.3_Missense_Mutation_p.C468Y NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 468 SRCR 5. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CTTACCAGAACAAATTACTCC 0.393000 45 18 0 0 0.00152264 0 0 MAP3K14 9020 broad.mit.edu 37 17 43364173 43364173 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:43364173G>A uc002iiw.1 - 5 883 c.774C>T c.(772-774)ccC>ccT p.P258P MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_5'UTR NM_003954 NP_003945 Q99558 M3K14_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA. 259 I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GTCTGCTATAGGGGAAGGGGT 0.612000 13 4 0 0 0.000602214 0 0 PTCHD4 442213 broad.mit.edu 37 6 47976780 47976780 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:47976780C>T uc011dwm.2 - 1 531 c.497G>A c.(496-498)cGg>cAg p.R166Q PTCHD4_uc011dwn.2_5'UTR|PTCHD4_uc003ozf.2_Missense_Mutation_p.R166Q NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA. 166 integral to membrane hedgehog receptor activity TGACTTGACCCGCTGATCTTT 0.493000 23 7 0 0 0.00198382 0 0 CYSLTR2 57105 broad.mit.edu 37 13 49281386 49281386 + Silent SNP C A A rs139045217 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:49281386C>A uc010acw.1 + 1 723 c.433C>A c.(433-435)Cgg>Agg p.R145R CYSLTR2_uc010acx.1_Silent_p.R145R|CYSLTR2_uc010acy.1_Silent_p.R145R|CYSLTR2_uc010acz.1_Silent_p.R145R|CYSLTR2_uc010ada.1_Silent_p.R145R|CYSLTR2_uc010adb.1_Silent_p.R145R|CYSLTR2_uc010adc.1_Silent_p.R145R|CYSLTR2_uc010add.1_Silent_p.R145R|CYSLTR2_uc001vck.2_Silent_p.R145R|CYSLTR2_uc021rjl.1_Silent_p.R145R NM_020377 NP_065110 Q9NS75 CLTR2_HUMAN Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA. 145 immune response integral to membrane|plasma membrane endometrium(2)|large_intestine(4)|lung(12)|skin(2) 20 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) TCACCCCTTTCGGCTTCTGCA 0.478000 103 42 8.72198e-27 2.75872e-26 0.00361006 1 0 CRB1 23418 broad.mit.edu 37 1 197390665 197390665 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:197390665C>T uc001gtz.3 + 5 1916 c.1707C>T c.(1705-1707)ttC>ttT p.F569F CRB1_uc010poz.2_Silent_p.F500F|CRB1_uc009wza.3_Silent_p.F457F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.F569F|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.F50F|CRB1_uc001gub.1_Silent_p.F218F NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 569 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.F569F(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AGTGGCATTTCGTGGAGGTAA 0.453000 83 30 0 0 0.00327116 0 0 MBD3 53615 broad.mit.edu 37 19 1581157 1581157 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:1581157G>A uc002ltj.3 - 4 633 c.611C>T c.(610-612)cCc>cTc p.P204L MBD3_uc002ltk.3_Missense_Mutation_p.P172L|MBD3_uc002ltl.1_Missense_Mutation_p.P204L NM_003926 NP_003917 O95983 MBD3_HUMAN Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA. 204 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CCATACGCCGGGGTTCTTCTC 0.657000 19 12 0 0 0.00136819 0 0 VSTM2A 222008 broad.mit.edu 37 7 54610435 54610435 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:54610435C>T uc022adk.1 + 0 417 c.12C>T c.(10-12)atC>atT p.I4I VSTM2A_uc010kzf.3_Silent_p.I4I NM_182546 NP_872352 Q8TAG5 VTM2A_HUMAN Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA. 4 extracellular region p.M2_G3>IW(1) endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) TGATGGGGATCTTTTTGGTGT 0.448000 75 28 0 0 0.00127121 0 0 COL5A1 1289 broad.mit.edu 37 9 137630331 137630331 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:137630331C>T uc004cfe.3 + 9 1783 c.1401C>T c.(1399-1401)atC>atT p.I467I NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 467 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCATGCTCATCGAGGGCCCGC 0.647000 42 14 0 0 0.00400662 0 0 DAB1 1600 broad.mit.edu 37 1 57538053 57538053 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:57538053G>A uc009vzx.1 - 4 661 c.341C>T c.(340-342)tCc>tTc p.S114F DAB1_uc001cyt.1_Missense_Mutation_p.S114F|DAB1_uc001cyq.1_Missense_Mutation_p.S114F|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Missense_Mutation_p.S114F|DAB1_uc001cys.1_Missense_Mutation_p.S114F NM_021080 NP_066566 O75553 DAB1_HUMAN Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA. 114 PID. 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 TGCAATGTAGGATATTTCATG 0.438000 20 50 0 0 0.00361006 0 0 GCLC 2729 broad.mit.edu 37 6 53363632 53363632 + Missense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:53363632T>A uc003pbw.2 - 15 2320 c.1836A>T c.(1834-1836)ttA>ttT p.L612F GCLC_uc003pbv.1_Missense_Mutation_p.L336F|GCLC_uc021zau.1_Missense_Mutation_p.L574F NM_001498 NP_001489 P48506 GSH1_HUMAN Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA. 612 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) GGCATTCACATAATTCATTTG 0.338000 106 44 0 0 0.00321405 0 0 KIAA1755 85449 broad.mit.edu 37 20 36841513 36841513 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:36841513G>A uc002xhy.1 - 13 3806 c.3534C>T c.(3532-3534)tcC>tcT p.S1178S KIAA1755_uc002xhv.1_Silent_p.S242S|KIAA1755_uc002xhw.1_Silent_p.S233S|KIAA1755_uc002xhx.1_Silent_p.S456S NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN Homo sapiens KIAA1755 (KIAA1755), mRNA. 1178 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) TCCCCTCTGAGGAGAAGCTGC 0.647000 28 14 0 0 0.00316338 0 0 LMO1 4004 broad.mit.edu 37 11 8248592 8248592 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:8248592C>T uc001mgg.1 - 2 792 c.295G>A c.(295-297)Gag>Aag p.E99K LMO1_uc009yfo.1_Non-coding_Transcript|LMO1_uc001mgh.1_Missense_Mutation_p.E98K NM_002315 NP_002306 P25800 RBTN1_HUMAN Homo sapiens LIM domain only 1 (rhombotin 1) (LMO1), mRNA. 99 LIM zinc-binding 2. cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1) 5 Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203) ATCACCATCTCGAAGGCTGGG 0.617000 """T, A""" TRD@ """T-ALL, neuroblastoma""" neuroblastoma 23 5 0 0 0.000602214 0 0 KCNQ1 3784 broad.mit.edu 37 11 2591881 2591881 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:2591881C>T uc001lwn.3 + 2 609 c.501C>T c.(499-501)ttC>ttT p.F167F KCNQ1_uc009ydp.1_Intron|KCNQ1_uc001lwo.3_Silent_p.F40F NM_000218 NP_000209 P51787 KCNQ1_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA. 167 FG -> W (in LQT1). blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) TGGTGTTCTTCGGGACGGAGT 0.642000 91 45 0 0 0.00361006 0 0 KLF3 51274 broad.mit.edu 37 4 38690447 38690447 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:38690447C>T uc003gth.4 + 2 631 c.299C>T c.(298-300)tCc>tTc p.S100F KLF3_uc003gtg.2_Missense_Mutation_p.S100F NM_016531 NP_057615 P57682 KLF3_HUMAN Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA. 100 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 ATGCCTTCTTCCAGCCCACCG 0.617000 50 18 0 0 0.00188189 0 0 CCDC88B 283234 broad.mit.edu 37 11 64108111 64108111 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:64108111G>A uc001nzy.3 + 1 142 c.93G>A c.(91-93)gcG>gcA p.A31A CCDC88B_uc009ypo.2_Silent_p.A31A|CCDC88B_uc001nzz.1_5'Flank NM_032251 NP_115627 A6NC98 CC88B_HUMAN Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA. 31 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCggggaggcggaggactcgg 0.682000 20 20 0 0 0.00332997 0 0 TSSK2 23617 broad.mit.edu 37 22 19119524 19119524 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:19119524G>A uc002zow.2 + 0 1204 c.612G>A c.(610-612)gtG>gtA p.V204V DGCR14_uc002zou.3_3'UTR NM_053006 NP_443732 Q96PF2 TSSK2_HUMAN Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA. 204 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.V204M(1)|p.G203C(1) endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) GCCTGGGCGTGATCCTGTACA 0.597000 51 19 0 0 0.000958276 0 0 ITIH2 3698 broad.mit.edu 37 10 7745462 7745462 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:7745462C>T uc001ijs.3 + 0 227 c.65C>T c.(64-66)cCc>cTc p.P22L NM_002216 NP_002207 P19823 ITIH2_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA. 22 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TTCGAAATCCCCATAAATGGA 0.413000 60 21 0 0 0.00188189 0 0 TLL1 7092 broad.mit.edu 37 4 166978381 166978381 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:166978381G>A uc003irh.2 + 13 2413 c.1766G>A c.(1765-1767)cGa>cAa p.R589Q TLL1_uc011cjn.2_Missense_Mutation_p.R612Q|TLL1_uc011cjo.2_Missense_Mutation_p.R413Q NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 589 EGF-like 1; calcium-binding (Potential). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGTGAGCAGCGATGTCTGAAC 0.478000 48 24 0 0 0.000720815 0 0 KCTD3 51133 broad.mit.edu 37 1 215777493 215777493 + Silent SNP C T T rs138597417 by1000genomes TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:215777493C>T uc001hks.3 + 12 1452 c.1158C>T c.(1156-1158)atC>atT p.I386I KCTD3_uc001hkt.3_Silent_p.I386I|KCTD3_uc010pub.2_Silent_p.I284I|KCTD3_uc009xdn.3_Silent_p.I138I NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA. 386 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) GTAACTGGATCGAGATCGCCT 0.443000 47 15 0 0 0.00074312 0 0 ZNF99 7652 broad.mit.edu 37 19 22941261 22941261 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:22941261C>T uc021urt.1 - 3 1605 c.1450G>A c.(1450-1452)Gaa>Aaa p.E484K NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. p.K484N(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CCACATTCTTCACATTTGTAG 0.368000 42 14 0 0 0.00316338 0 0 CLTCL1 8218 broad.mit.edu 37 22 19221047 19221047 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:19221047G>A uc021wle.1 - 7 1341 c.1266C>T c.(1264-1266)ctC>ctT p.L422L CLTCL1_uc021wld.1_Silent_p.L422L|CLTCL1_uc021wlc.1_Silent_p.L422L|CLTCL1_uc021wlf.1_Silent_p.L422L|CLTCL1_uc011agw.1_Silent_p.L422L NM_007098 NP_009029 P53675 CLH2_HUMAN Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA. 422 Globular terminal domain. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) GACCCTGGTCGAGCAGGATTC 0.502000 T ? ALCL 34 9 0 0 0.000673444 0 0 ZDBF2 57683 broad.mit.edu 37 2 207173185 207173185 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:207173185G>A uc002vbp.2 + 4 4183 c.3933G>A c.(3931-3933)agG>agA p.R1311R NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 1311 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 ATCTTTTGAGGGAGGAACATG 0.363000 32 12 0 0 0.00185496 0 0 NCOR2 9612 broad.mit.edu 37 12 124831144 124831144 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:124831144G>A uc021rga.1 - 30 4463 c.4346C>T c.(4345-4347)gCc>gTc p.A1449V NCOR2_uc021rgb.1_Missense_Mutation_p.A1433V|NCOR2_uc010tbb.2_Missense_Mutation_p.A1442V|NCOR2_uc010tbc.2_Missense_Mutation_p.A1432V|NCOR2_uc021rgc.1_Missense_Mutation_p.A1432V|NCOR2_uc010tba.2_Missense_Mutation_p.A1450V|NCOR2_uc001ugj.1_Missense_Mutation_p.A1450V NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA. 1450 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CGGCCGCGGGGCCAGGGGCAG 0.731000 9 4 0 0 0.00024832 0 0 TSLP 85480 broad.mit.edu 37 5 110407731 110407731 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:110407731C>T uc003kpb.2 + 0 342 c.143C>T c.(142-144)tCt>tTt p.S48F TSLP_uc003kpa.2_Non-coding_Transcript NM_033035 NP_149024 Q969D9 TSLP_HUMAN Homo sapiens thymic stromal lymphopoietin (TSLP), transcript variant 1, mRNA. 48 extracellular space cytokine activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) AGTACTATTTCTAAAGACCTG 0.358000 46 18 0 0 0.00121646 0 0 NLRP7 199713 broad.mit.edu 37 19 55450450 55450450 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55450450C>T uc002qih.4 - 3 1813 c.1737G>A c.(1735-1737)caG>caA p.Q579Q NLRP7_uc010esk.3_Silent_p.Q579Q|NLRP7_uc002qig.4_Silent_p.Q579Q|NLRP7_uc002qii.4_Silent_p.Q579Q|NLRP7_uc010esl.3_Silent_p.Q607Q NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 579 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GCTCCTCCTCCTGAGACTCAT 0.493000 42 17 0 0 0.000958276 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140176535 140176535 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140176535G>A uc003lhd.2 + 0 2092 c.1986G>A c.(1984-1986)acG>acA p.T662T PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.T662T|PCDHAC2_uc011czy.2_Silent_p.T662T NM_018905 NP_061728 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA. 673 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACAGCCACGGCCACCGTGT 0.662000 52 22 0 0 0.00229938 0 0 USP43 124739 broad.mit.edu 37 17 9632076 9632076 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:9632076C>T uc010cod.3 + 14 3141 c.3141C>T c.(3139-3141)atC>atT p.I1047I USP43_uc002gma.4_Silent_p.I736I|USP43_uc010vva.2_Silent_p.I1042I|USP43_uc010coe.3_Silent_p.I844I|USP43_uc002gmc.4_Silent_p.I559I NM_153210 NP_694942 Q70EL4 UBP43_HUMAN Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA. 1047 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 CCCTCAGGATCCCAGAGGGCC 0.706000 2 9 0 0 0.000274275 0 0 ELAVL3 1995 broad.mit.edu 37 19 11565576 11565576 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:11565576T>C uc002mry.1 - 6 1249 c.869A>G c.(868-870)aAc>aGc p.N290S ELAVL3_uc002mrx.1_Missense_Mutation_p.N283S NM_001420 NP_001411 Q14576 ELAV3_HUMAN Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA. 290 RRM 3. cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 CGGTGACAGGTTGTACACGAA 0.652000 23 24 0 0 0.00278032 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142539863 142539863 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:142539863G>A uc003evd.3 - 7 1281 c.974C>T c.(973-975)aCc>aTc p.T325I NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA. 325 NTR. extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 GCGAGTGATGGTTGTGATAAC 0.453000 34 22 0 0 0.000720815 0 0 ABCC9 10060 broad.mit.edu 37 12 21998642 21998642 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:21998642C>T uc001rfh.3 - 23 3011 c.2991G>A c.(2989-2991)atG>atA p.M997I ABCC9_uc001rfi.1_Missense_Mutation_p.M997I NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 997 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TAGAGAAAATCATCAGGATGA 0.438000 27 19 0 0 0.00152264 0 0 MUC16 94025 broad.mit.edu 37 19 9086951 9086952 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9086951_9086952GG>AA uc002mkp.3 - 0 5067_5068 c.4863_4864CC>TT c.(4861-4866)ggccca>ggTTca p.P1622S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1622 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 ATGTTTGTTGGGCCAGTCTCAA 0.515000 120 30 0 0 6.4e-05 0 0 SHANK2 22941 broad.mit.edu 37 11 70333102 70333102 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:70333102G>A uc001oqc.3 - 20 3210 c.3098C>T c.(3097-3099)tCc>tTc p.S1033F SHANK2_uc010rqn.2_Missense_Mutation_p.S509F|SHANK2_uc001opz.3_Missense_Mutation_p.S504F|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 720 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GAAGGCCGGGGAGTTCCTCCT 0.697000 12 9 0 0 0.000274275 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6422912 6422912 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:6422912C>T uc001qnr.3 + 2 404 c.256C>T c.(256-258)Cat>Tat p.H86Y PLEKHG6_uc001qns.3_Missense_Mutation_p.H86Y|PLEKHG6_uc010sew.2_Missense_Mutation_p.H86Y|PLEKHG6_uc010sex.2_Missense_Mutation_p.H54Y NM_018173 NP_060643 Q3KR16 PKHG6_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA. 86 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 GCACGGGGGCCATGTGGGGGC 0.637000 33 16 0 0 0.00188189 0 0 TRERF1 55809 broad.mit.edu 37 6 42227184 42227184 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:42227184G>A uc003ose.2 - 8 2785 c.2222C>T c.(2221-2223)tCg>tTg p.S741L TRERF1_uc011duq.1_Missense_Mutation_p.S638L|TRERF1_uc003osb.2_Missense_Mutation_p.S477L|TRERF1_uc003osc.2_Missense_Mutation_p.S477L|TRERF1_uc003osd.2_Missense_Mutation_p.S721L NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 721 Interacts with CREBBP.|Pro-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GAAGAGCCCCGAGCCCTGGCG 0.731000 12 5 0 0 0.000602214 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966907 41966907 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:41966907A>T uc010skn.2 + 9 2334 c.2326A>T c.(2326-2328)Atg>Ttg p.M776L PDZRN4_uc001rmq.4_Missense_Mutation_p.M518L|PDZRN4_uc009zjz.3_Missense_Mutation_p.M516L|PDZRN4_uc001rmr.3_Missense_Mutation_p.M403L NM_001164595 NP_001158067 Q6ZMN7 PZRN4_HUMAN Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA. 776 ubiquitin-protein ligase activity|zinc ion binding p.V775M(1) 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) GAGAAGCACAATGGCAGCCAC 0.517000 88 35 0 0 0.000953801 0 0 KRTDAP 388533 broad.mit.edu 37 19 35979706 35979706 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:35979706C>T uc002nzh.3 - 1 213 c.124G>A c.(124-126)Gag>Aag p.E42K KRTDAP_uc021uso.1_Missense_Mutation_p.E42K NM_207392 NP_997275 P60985 KTDAP_HUMAN Homo sapiens keratinocyte differentiation-associated protein (KRTDAP), transcript variant 1, mRNA. 42 cell differentiation extracellular region breast(1)|lung(4)|prostate(1) 6 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGGCTTACCTCGGGTCGTGAC 0.552000 32 21 0 0 0.00229938 0 0 PPIAL4G 644591 broad.mit.edu 37 1 143767740 143767740 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:143767740G>A uc001ejt.3 - 0 142 c.109C>T c.(109-111)Cgt>Tgt p.R37C NM_001123068 NP_001116540 A2BFH1 PAL4G_HUMAN Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA. 37 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 CTCAGAGCACGAAAGTTTTCT 0.478000 218 54 0 0 0.00361006 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140754405 140754405 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140754405C>T uc003ljy.2 + 0 755 c.755C>T c.(754-756)cCt>cTt p.P252L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.P252L NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 252 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTAAGTGTTCCTGAAAACCTG 0.493000 23 10 0 0 0.00136819 0 0 NYAP2 57624 broad.mit.edu 37 2 226447550 226447550 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:226447550C>T uc002voe.2 + 3 1592 c.1417C>T c.(1417-1419)Cct>Tct p.P473S NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.P243S NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 473 Pro-rich. TCCTTCAGTGCCTCACTCGAC 0.662000 34 17 0 0 0.00074312 0 0 SLC26A8 116369 broad.mit.edu 37 6 35959503 35959503 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:35959503C>T uc003olm.3 - 6 986 c.875G>A c.(874-876)cGa>cAa p.R292Q SLC26A8_uc003oll.3_Intron|SLC26A8_uc003oln.3_Missense_Mutation_p.R292Q NM_001193476 NP_443193 Q96RN1 S26A8_HUMAN Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA. 292 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 TTTGTTGATTCGCAGAGCAAC 0.333000 29 25 0 0 0.00332997 0 0 CCDC102B 79839 broad.mit.edu 37 18 66678171 66678171 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:66678171G>A uc002lkk.2 + 9 1487 c.1264_splice c.e9-1 p.E422_splice CCDC102B_uc002lki.2_Splice_Site_p.E422_splice NM_001093729 NP_079057 Q68D86 C102B_HUMAN Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA. 422 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) CCTTTGAAAGGAATTACTGAA 0.318000 24 4 0 0 0.00024832 0 0 XDH 7498 broad.mit.edu 37 2 31605980 31605980 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:31605980C>T uc002rnv.1 - 10 1004 c.925G>A c.(925-927)Gaa>Aaa p.E309K NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 309 FAD-binding PCMH-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AGGGTTTTTTCCACAATGCTC 0.532000 35 14 0 0 0.00244969 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764324 77764324 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:77764324C>T uc003yau.2 + 9 5554 c.5167C>T c.(5167-5169)Cct>Tct p.P1723S ZFHX4_uc003yaw.1_Missense_Mutation_p.P1678S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 1678 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P1723T(2) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCCTCATTTTCCTATGACCCC 0.473000 HNSCC(33;0.089) 43 23 0 0 0.00395357 0 0 KSR2 283455 broad.mit.edu 37 12 118105405 118105405 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:118105405C>T uc001two.2 - 4 1013 c.958G>A c.(958-960)Gag>Aag p.E320K NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 349 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) GGGATGTTCTCGCAGCTGCCT 0.552000 22 8 0 0 0.00307968 0 0 SCAND3 114821 broad.mit.edu 37 6 28543043 28543043 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:28543043C>T uc003nlo.3 - 2 2057 c.1439G>A c.(1438-1440)cGa>cAa p.R480Q NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 480 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 AATCCTCTTTCGGATATCCTC 0.428000 94 27 0 0 0.000878237 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846809 47846809 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:47846809C>T uc011dwm.2 - 2 1805 c.1771G>A c.(1771-1773)Gat>Aat p.D591N PTCHD4_uc011dwn.2_Missense_Mutation_p.D338N NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA. 591 integral to membrane hedgehog receptor activity AAGATGATATCATTTCGAAAA 0.423000 30 10 0 0 0.000673444 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48558162 48558162 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:48558162G>A uc010xzd.2 - 14 1769 c.1432C>T c.(1432-1434)Ccc>Tcc p.P478S PLA2G4C_uc002phw.3_Missense_Mutation_p.P403S|PLA2G4C_uc010elr.3_Missense_Mutation_p.P468S|PLA2G4C_uc002phx.3_Missense_Mutation_p.P468S NM_001159322 NP_001152794 Q9UP65 PA24C_HUMAN Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA. 468 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding p.P468T(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) TTGAACAGGGGAAAATGCATC 0.517000 66 20 0 0 0.00278032 0 0 B4GALNT4 338707 broad.mit.edu 37 11 380147 380147 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:380147G>A uc001lpb.3 + 16 2669 c.2660G>A c.(2659-2661)cGa>cAa p.R887Q NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA. 887 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TACCTGAGACGAACCGGGAAC 0.687000 13 5 0 0 0.00198382 0 0 CHD4 1108 broad.mit.edu 37 12 6715448 6715448 + Missense_Mutation SNP G A A rs138912992 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:6715448G>A uc001qpo.3 - 1 256 c.92C>T c.(91-93)cCc>cTc p.P31L CHD4_uc001qpn.3_Missense_Mutation_p.P31L|CHD4_uc001qpp.3_Missense_Mutation_p.P31L NM_001273 NP_001264 Q14839 CHD4_HUMAN Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA. 31 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ACCTGGGTGGGGTGGGGGCAG 0.657000 25 19 0 0 0.00152264 0 0 IL2 3558 broad.mit.edu 37 4 123377456 123377456 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:123377456C>T uc003ier.3 - 0 195 c.140G>A c.(139-141)gGa>gAa p.G47E NM_000586 NP_000577 P60568 IL2_HUMAN Homo sapiens interleukin 2 (IL2), mRNA. 47 T cell differentiation|anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of B cell proliferation|positive regulation of activated T cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein extracellular space cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity endometrium(2)|large_intestine(4)|lung(6)|skin(1) 13 LUSC - Lung squamous cell carcinoma(721;0.185) TACATTAATTCCATTCAAAAT 0.308000 T TNFRSF17 intestinal T-cell lymphoma 27 10 0 0 0.000442599 0 0 MAPT 4137 broad.mit.edu 37 17 44039838 44039838 + Splice_Site SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:44039838T>C uc002ijr.4 + 2 455 c.133_splice c.e2+2 p.E45_splice MAPT_uc010dau.3_Splice_Site_p.E45_splice|MAPT_uc002ijs.4_Splice_Site_p.E45_splice|MAPT_uc002ijx.4_Splice_Site_p.E45_splice|MAPT_uc021tyv.1_Splice_Site_p.E45_splice|MAPT_uc002ijt.4_Splice_Site_p.A45_splice|MAPT_uc021tyw.1_Splice_Site_p.E45_splice|MAPT_uc002iju.4_Splice_Site_p.A45_splice NM_016835 NP_058519 P10636 TAU_HUMAN Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA. 45 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) GCCTGAAAGGTTAGTGGACAG 0.527000 12 9 0 0 0.000274275 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137358 40137358 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:40137358C>T uc021qgf.1 - 0 485 c.485G>A c.(484-486)aGc>aAc p.S162N LRRC4C_uc001mxc.1_Missense_Mutation_p.S158N|LRRC4C_uc001mxd.1_Missense_Mutation_p.S158N|LRRC4C_uc001mxa.1_Missense_Mutation_p.S162N|LRRC4C_uc001mxb.1_Missense_Mutation_p.S158N NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 162 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) AGAAGGGATGCTTTCAATGGG 0.423000 51 14 0 0 0.000566183 0 0 OR3A2 4995 broad.mit.edu 37 17 3181445 3181445 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:3181445C>T uc002fvg.3 - 0 824 c.785G>A c.(784-786)gGa>gAa p.G262E NM_002551 NP_002542 P47893 OR3A2_HUMAN Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA. 262 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 GATACCTCTTCCAAAGAAAAG 0.502000 24 19 0 0 0.00152264 0 0 RDH13 112724 broad.mit.edu 37 19 55556545 55556545 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55556545G>A uc002qio.3 - 6 1078 c.893C>T c.(892-894)cCc>cTc p.P298L RDH13_uc002qip.2_Missense_Mutation_p.P227L|RDH13_uc010esr.1_Non-coding_Transcript NM_001145971 NP_612421 Q8NBN7 RDH13_HUMAN Homo sapiens retinol dehydrogenase 13 (all-trans/9-cis) (RDH13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 298 binding|oxidoreductase activity endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.199) GBM - Glioblastoma multiforme(193;0.0504) Vitamin A(DB00162) CTCAGCCTCGGGGGCCGGGGC 0.657000 32 21 0 0 0.00152264 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558545 140558545 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140558545C>T uc011dai.2 + 0 1175 c.930C>T c.(928-930)ttC>ttT p.F310F PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 310 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) AACTTGATTTCGAAAAATTTC 0.383000 184 28 0 0 0.00127121 0 0 HDAC9 9734 broad.mit.edu 37 7 18801810 18801810 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:18801810G>A uc003sui.3 + 13 2115 c.2074G>A c.(2074-2076)Gaa>Aaa p.E692K HDAC9_uc003sue.3_Missense_Mutation_p.E689K|HDAC9_uc011jyd.2_Missense_Mutation_p.E689K|HDAC9_uc003suh.3_Missense_Mutation_p.E689K|HDAC9_uc003suj.3_Missense_Mutation_p.E648K|HDAC9_uc003sua.1_Missense_Mutation_p.E667K NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA. 689 Histone deacetylase. 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 NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity p.E692*(2) 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) CAGCCTGGAGGAAATACAGCT 0.483000 26 10 0 0 0.000978159 0 0 ADCY8 114 broad.mit.edu 37 8 131859750 131859750 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:131859750C>T uc003ytd.4 - 10 2678 c.2422G>A c.(2422-2424)Gat>Aat p.D808N ADCY8_uc010mds.3_Intron NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 808 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) TTGTCAAAATCACACCACAGC 0.393000 HNSCC(32;0.087) 42 18 0 0 0.000958276 0 0 ASB5 140458 broad.mit.edu 37 4 177142371 177142371 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:177142371C>T uc003iuq.2 - 4 719 c.605G>A c.(604-606)gGa>gAa p.G202E ASB5_uc003iup.2_Missense_Mutation_p.G149E NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA. 202 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) GAGAGGAGTTCCCAAATGAGG 0.403000 44 26 0 0 0.000720815 0 0 CARS 833 broad.mit.edu 37 11 3047965 3047965 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:3047965G>A uc001lxf.3 - 9 1178 c.1094C>T c.(1093-1095)tCc>tTc p.S365F CARS_uc010qxo.2_Missense_Mutation_p.S365F|CARS_uc001lxe.3_Missense_Mutation_p.S272F|CARS_uc001lxg.3_Missense_Mutation_p.S282F|CARS_uc001lxh.3_Missense_Mutation_p.S282F|CARS_uc010qxp.2_Missense_Mutation_p.S295F|AX747870_uc001lxi.1_5'Flank NM_001014437 NP_001014437 P49589 SYCC_HUMAN Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA. 282 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) CTTCCCATAGGAGTGCTTCTC 0.522000 T ALK ALCL 62 23 0 0 0.00332997 0 0 NBEAL1 65065 broad.mit.edu 37 2 203974915 203974916 + Missense_Mutation DNP CC AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:203974915_203974916CC>AA uc002uzt.3 + 13 2238_2239 c.1905_1906CC>AA c.(1903-1908)acccat>acAAat p.H636N NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 636 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CCTTTATTACCCATTCAGGTAT 0.381000 569 15 0 0 6.4e-05 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19413005 19413005 + RNA SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:19413005G>A uc010tcj.1 - 0 c.33105C>T Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. GATTACCTCTGAAGTTAAAGA 0.308000 54 18 0 0 0.00074312 0 0 LILRA1 11024 broad.mit.edu 37 19 55086445 55086445 + Silent SNP G A A rs141931276 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55086445G>A uc010ern.3 + 4 1069 c.600G>A c.(598-600)tcG>tcA p.S200S LILRA1_uc002qgg.4_Silent_p.S200S|LILRA1_uc002qgf.3_Silent_p.S200S|LILRA1_uc010yfe.1_Silent_p.S200S|LILRA1_uc010yff.1_Silent_p.S188S|LILRA1_uc010ero.3_Silent_p.S188S|LILRA1_uc010yfg.1_Silent_p.S200S O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA. 202 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CTTATGACTCGAACTCTCCCT 0.577000 92 36 0 0 0.00128727 0 0 NRG1 3084 broad.mit.edu 37 8 32621314 32621314 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:32621314C>T uc003xiv.2 + 11 1834 c.1317C>T c.(1315-1317)ttC>ttT p.F439F NRG1_uc022ats.1_Silent_p.F389F|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Silent_p.F444F|NRG1_uc003xiw.2_Silent_p.F436F|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Silent_p.F181F|NRG1_uc010lvs.2_Silent_p.F181F|NRG1_uc010lvp.2_Silent_p.F393F|NRG1_uc010lvq.2_Silent_p.F369F|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Silent_p.F282F|NRG1_uc003xja.2_Silent_p.F250F NM_013964 NP_039258 Q02297 NRG1_HUMAN Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA. 439 Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CTGTAGATTTCCACACGCCAA 0.557000 68 25 0 0 0.00178596 0 0 LRBA 987 broad.mit.edu 37 4 151770044 151770044 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:151770044G>A uc010ipj.3 - 25 4509 c.4265C>T c.(4264-4266)tCt>tTt p.S1422F LRBA_uc003ilt.4_Missense_Mutation_p.S81F|LRBA_uc003ilu.4_Missense_Mutation_p.S1422F NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 1422 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) AAAGCCAAGAGAACTTGCAAA 0.413000 111 36 0 0 0.00148497 0 0 SDK2 54549 broad.mit.edu 37 17 71348736 71348736 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:71348736C>T uc010dfm.3 - 40 5634 c.5634G>A c.(5632-5634)aaG>aaA p.K1878K SDK2_uc002jjt.4_Silent_p.K1018K|SDK2_uc002jjv.1_Non-coding_Transcript NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 1878 Fibronectin type-III 13. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 AGCTCACCTCCTTGGGGATGT 0.597000 38 14 0 0 0.00400662 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113223516 113223516 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:113223516G>A uc001vse.1 - 1 321 c.134C>T c.(133-135)cCa>cTa p.P45L TUBGCP3_uc010tjq.1_Missense_Mutation_p.P45L|TUBGCP3_uc001vsf.3_Missense_Mutation_p.P45L|TUBGCP3_uc001vsg.1_Missense_Mutation_p.P45L NM_006322 NP_006313 Q96CW5 GCP3_HUMAN Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA. 45 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) TTCAACAGTTGGGGCGAAGTT 0.418000 65 21 0 0 0.00395357 0 0 SLC24A3 57419 broad.mit.edu 37 20 19665797 19665797 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:19665797C>T uc002wrl.3 + 11 1313 c.1116C>T c.(1114-1116)gcC>gcT p.A372A NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA. 372 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CTGAGGTGGCCATCAAAATCC 0.537000 50 28 0 0 0.00127121 0 0 VCAM1 7412 broad.mit.edu 37 1 101197031 101197031 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:101197031C>T uc001dti.3 + 5 1703 c.1482C>T c.(1480-1482)ttC>ttT p.F494F VCAM1_uc010ouj.2_Silent_p.F432F|VCAM1_uc001dtj.3_Silent_p.F402F NM_001078 NP_001069 P19320 VCAM1_HUMAN Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA. 494 Ig-like C2-type 5. 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) ACATGGAATTCGAACCCAAAC 0.378000 60 26 0 0 0.00209593 0 0 PPL 5493 broad.mit.edu 37 16 4935273 4935273 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:4935273C>T uc002cyd.1 - 21 3473 c.3383G>A c.(3382-3384)aGg>aAg p.R1128K NM_002705 NP_002696 O60437 PEPL_HUMAN Homo sapiens periplakin (PPL), mRNA. 1128 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 GCTGACCTCCCTCTCGGTGGC 0.617000 22 10 0 0 0.000442599 0 0 TRPC4 7223 broad.mit.edu 37 13 38211422 38211422 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:38211422C>T uc010abx.3 - 10 2802 c.2567G>A c.(2566-2568)cGa>cAa p.R856Q TRPC4_uc010abv.3_Missense_Mutation_p.R431Q|TRPC4_uc001uwt.3_Intron|TRPC4_uc001uws.3_Missense_Mutation_p.R851Q|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Missense_Mutation_p.R678Q|TRPC4_uc010aby.3_Intron NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 851 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTGTTTTGATCGTCTATGAAA 0.438000 33 17 0 0 0.00074312 0 0 PAPOLB 56903 broad.mit.edu 37 7 4900186 4900186 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:4900186G>A uc003snk.3 - 0 1440 c.1256C>T c.(1255-1257)cCa>cTa p.P419L RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron NM_020144 NP_064529 Q9NRJ5 PAPOB_HUMAN Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA. 418 RNA polyadenylation|mRNA processing|transcription, DNA-dependent nucleus ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) AAATGACTGTGGATTCACATG 0.403000 181 86 0 0 0.00361006 0 0 SSPO 23145 broad.mit.edu 37 7 149500813 149500813 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:149500813G>A uc010lpk.3 + 54 8122 c.8122G>A c.(8122-8124)Ggc>Agc p.G2708S NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 2711 cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCAACCAGGGGGCTGCCCCCT 0.692000 10 6 0 0 0.00116845 0 0 PYGO2 90780 broad.mit.edu 37 1 154932030 154932030 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:154932030G>A uc001fft.3 - 2 652 c.446C>T c.(445-447)cCc>cTc p.P149L NM_138300 NP_612157 Q9BRQ0 PYGO2_HUMAN Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA. 149 Pro-rich. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1) 10 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) AGGACCCTGGGGGGGCATGTT 0.627000 25 10 0 0 0.000978159 0 0 C12orf63 374467 broad.mit.edu 37 12 97073486 97073486 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:97073486G>A uc021rcc.1 + 6 1025 c.947G>A c.(946-948)cGa>cAa p.R316Q Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 316 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 AGATCAATCCGACACAGCAGA 0.453000 82 40 0 0 0.00222228 0 0 C10orf81 79949 broad.mit.edu 37 10 115527213 115527213 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:115527213G>A uc001lat.2 + 3 878 c.316G>A c.(316-318)Gaa>Aaa p.E106K C10orf81_uc009xyc.2_Missense_Mutation_p.E24K|C10orf81_uc001lar.2_Missense_Mutation_p.E112K|C10orf81_uc001las.2_Missense_Mutation_p.E24K NM_182601 NP_872407 Q5SXH7 CJ081_HUMAN Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA. 106 PH. central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2) 15 Colorectal(252;0.175) Epithelial(162;0.0181)|all cancers(201;0.0204) CACTAACAGGGAATACTTCCT 0.388000 27 19 0 0 0.00152264 0 0 GPR149 344758 broad.mit.edu 37 3 154146580 154146580 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:154146580G>A uc003faa.3 - 0 925 c.825C>T c.(823-825)ttC>ttT p.F275F NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA. 275 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CACCCGGTCCGAACACGGTGT 0.677000 21 11 0 0 0.000673444 0 0 TRERF1 55809 broad.mit.edu 37 6 42231058 42231058 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:42231058G>A uc003ose.2 - 7 2447 c.1884C>T c.(1882-1884)ctC>ctT p.L628L TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Splice_Site_p.L628_splice NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 628 Interacts with CREBBP.|Pro-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TCATCCTCACGAGCACAGGCA 0.667000 52 9 0 0 0.000274275 0 0 MAPK4 5596 broad.mit.edu 37 18 48190850 48190850 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:48190850C>T uc002lev.3 + 1 1522 c.522C>T c.(520-522)atC>atT p.I174I MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Silent_p.I174I NM_002747 NP_002738 P31152 MK04_HUMAN Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA. 174 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) TGGCAAGGATCGTTGATCAGC 0.532000 49 23 0 0 0.000720815 0 0 LPIN3 64900 broad.mit.edu 37 20 39978916 39978916 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:39978916G>A uc010ggh.3 + 6 1075 c.984G>A c.(982-984)gaG>gaA p.E328E LPIN3_uc002xjx.3_Silent_p.E327E|LPIN3_uc010zwf.2_Non-coding_Transcript NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN Homo sapiens lipin 3 (LPIN3), mRNA. 327 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) CAGAGACAGAGGAAAGCAAGA 0.617000 27 9 0 0 0.000274275 0 0 RCOR3 55758 broad.mit.edu 37 1 211487014 211487014 + Silent SNP C T T rs139368264 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:211487014C>T uc010psw.2 + 11 1761 c.1566C>T c.(1564-1566)ccC>ccT p.P522P RCOR3_uc001hif.3_3'UTR|RCOR3_uc001hig.3_Silent_p.P464P|RCOR3_uc009xcz.3_Non-coding_Transcript NM_001136223 NP_060724 Q9P2K3 RCOR3_HUMAN Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA. 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) CCATGCCACCCCGTCTAAACC 0.527000 55 22 0 0 0.00332997 0 0 FAM167A 83648 broad.mit.edu 37 8 11301779 11301779 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:11301779C>T uc010lry.1 - 1 762 c.142G>A c.(142-144)Gaa>Aaa p.E48K FAM167A_uc003wtw.2_Missense_Mutation_p.E48K NM_053279 NP_444509 Q96KS9 F167A_HUMAN Homo sapiens family with sequence similarity 167, member A (FAM167A), mRNA. 48 breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1) 9 GCCTGCCATTCCAGGTAGGAG 0.706000 37 17 0 0 0.000958276 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112778290 112778290 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:112778290G>A uc004bei.2 + 7 1441 c.1249G>A c.(1249-1251)Gaa>Aaa p.E417K PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.E185K|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.E185K|PALM2-AKAP2_uc004bel.1_5'UTR NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA. 0 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 GAACGCCACAGAAACATCCGG 0.473000 47 29 0 0 0.00375469 0 0 STXBP4 252983 broad.mit.edu 37 17 53084923 53084923 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:53084923C>T uc002iuf.1 + 7 838 c.631C>T c.(631-633)Ccc>Tcc p.P211S STXBP4_uc010dcc.1_Missense_Mutation_p.P136S|STXBP4_uc010dcd.1_Missense_Mutation_p.P211S NM_178509 NP_848604 Q6ZWJ1 STXB4_HUMAN Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA. 211 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 CTCCCTAAATCCCTCTGTTCG 0.368000 455 139 0 0 0.00361006 0 0 GPR115 221393 broad.mit.edu 37 6 47681738 47681738 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:47681738G>A uc003oyz.1 + 6 928 c.928G>A c.(928-930)Gag>Aag p.E310K GPR115_uc003oza.1_Missense_Mutation_p.E253K|GPR115_uc003ozb.1_Missense_Mutation_p.E253K|RN7SK_uc021zaf.1_5'Flank NM_153838 NP_722580 Q8IZF3 GP115_HUMAN Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA. 253 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 TAATACCTCAGAGAAAAGCCT 0.403000 50 19 0 0 0.000958276 0 0 TKTL2 84076 broad.mit.edu 37 4 164393571 164393571 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:164393571G>A uc003iqp.4 - 0 1477 c.1316C>T c.(1315-1317)gCc>gTc p.A439V NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN Homo sapiens transketolase-like 2 (TKTL2), mRNA. 439 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TCGGAACATGGCTAGATCCTC 0.483000 59 25 0 0 0.000878237 0 0 C1orf94 84970 broad.mit.edu 37 1 34666597 34666597 + Nonsense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:34666597C>T uc001bxt.3 + 2 2072 c.1234C>T c.(1234-1236)Cga>Tga p.R412* C1orf94_uc001bxs.4_Nonsense_Mutation_p.R222* NM_001134734 NP_116273 Q6P1W5 CA094_HUMAN Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA. 222 protein binding p.R222*(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) GCCGAGACTTCGAAACAAAGT 0.577000 7 5 0 0 0.000602214 0 0 C1orf106 55765 broad.mit.edu 37 1 200878057 200878057 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:200878057G>A uc001gvo.3 + 6 1071 c.1029G>A c.(1027-1029)tgG>tgA p.W343* C1orf106_uc010ppm.2_Nonsense_Mutation_p.W258* NM_018265 NP_001136041 Q3KP66 CA106_HUMAN Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA. 343 Pro-rich. endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CTGAGCCCTGGAGCGAGTCCA 0.632000 14 8 0 0 0.00307968 0 0 MGAM 8972 broad.mit.edu 37 7 141732706 141732706 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:141732706C>T uc003vwy.3 + 13 1720 c.1666C>T c.(1666-1668)Ccc>Tcc p.P556S NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 556 Maltase. 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) CCCATTCACTCCCAGTAAGTC 0.378000 14 8 0 0 0.000274275 0 0 ACSM1 116285 broad.mit.edu 37 16 20682950 20682950 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:20682950C>T uc002dhm.1 - 3 723 c.655G>A c.(655-657)Gac>Aac p.D219N ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.D219N NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 219 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 ACCATTGGGTCCAAGGTCTTT 0.483000 53 23 0 0 0.00332997 0 0 PAK7 57144 broad.mit.edu 37 20 9543585 9543585 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:9543585C>T uc002wnl.2 - 6 2114 c.1569G>A c.(1567-1569)atG>atA p.M523I PAK7_uc002wnk.2_Missense_Mutation_p.M523I|PAK7_uc002wnj.2_Missense_Mutation_p.M523I|PAK7_uc010gby.1_Missense_Mutation_p.M523I NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 523 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CTAGAAACTCCATGACCACCC 0.498000 81 37 0 0 0.00170553 0 0 FAT2 2196 broad.mit.edu 37 5 150947743 150947743 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:150947743G>A uc003lue.4 - 0 763 c.750C>T c.(748-750)ctC>ctT p.L250L FAT2_uc010jhx.1_Silent_p.L250L NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 250 Cadherin 2. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGGCTTCCTGAGGGCAGGCT 0.567000 17 12 0 0 0.000978159 0 0 COL7A1 1294 broad.mit.edu 37 3 48617237 48617237 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:48617237C>T uc003ctz.2 - 56 5136 c.5135G>A c.(5134-5136)gGa>gAa p.G1712E COL7A1_uc021wxp.1_5'Flank NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 1712 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity p.G1712V(2)|p.G1712R(1) NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGCTCCAGGTCCTGTGTCTAC 0.582000 27 20 0 0 0.00278032 0 0 OR8H1 219469 broad.mit.edu 37 11 56057731 56057731 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:56057731C>T uc010rje.2 - 0 808 c.808G>A c.(808-810)Gat>Aat p.D270N NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA. 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) GCCACTTGATCCCTTCCCAAA 0.338000 35 24 0 0 0.00278032 0 0 CERS4 79603 broad.mit.edu 37 19 8319473 8319473 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:8319473C>T uc002mjg.3 + 3 584 c.264C>T c.(262-264)ttC>ttT p.F88F CERS4_uc002mji.3_5'UTR|CERS4_uc010dvz.3_Silent_p.F88F NM_024552 NP_078828 Q9HA82 CERS4_HUMAN Homo sapiens ceramide synthase 4 (CERS4), mRNA. 88 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity AGAAACACTTCCTCACGGAAG 0.652000 7 4 0 0 0.000602214 0 0 PARP9 83666 broad.mit.edu 37 3 122269585 122269585 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:122269585G>A uc010hri.3 - 5 1422 c.1277C>T c.(1276-1278)tCc>tTc p.S426F PARP9_uc003eff.4_Missense_Mutation_p.S391F|PARP9_uc011bjs.2_Missense_Mutation_p.S391F|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.S391F|PARP9_uc003efh.3_Missense_Mutation_p.S426F|PARP9_uc003efj.2_Missense_Mutation_p.S391F NM_001146102 NP_113646 Q8IXQ6 PARP9_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA. 426 Macro 2. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) GGCAGGAAAGGAAATGGAAGT 0.348000 32 17 0 0 0.000566183 0 0 DNAH9 1770 broad.mit.edu 37 17 11631209 11631209 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:11631209C>T uc002gne.3 + 27 5852 c.5784C>T c.(5782-5784)tcC>tcT p.S1928S DNAH9_uc010coo.3_Silent_p.S1222S NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 1928 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ATCGAATCTCCGTGGAGGTCT 0.483000 11 12 0 0 0.00185496 0 0 OR56A5 390084 broad.mit.edu 37 11 5989611 5989611 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:5989611G>A uc010qzu.2 - 0 114 c.114C>T c.(112-114)ttC>ttT p.F38F NM_001146033 NP_001139505 P0C7T3 O56A5_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA. 38 integral to membrane|plasma membrane olfactory receptor activity TGGCCAGGAGGAAGAGGAGGC 0.572000 11 4 0 0 0.00024832 0 0 SCN7A 6332 broad.mit.edu 37 2 167322343 167322343 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:167322343C>T uc002udu.2 - 6 949 c.819G>A c.(817-819)gaG>gaA p.E273E SCN7A_uc010fpm.2_Non-coding_Transcript NM_002976 NP_002967 Q01118 SCN7A_HUMAN Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA. 273 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.Q272*(1) 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 CATTTTCATTCTCTTGGGGCC 0.363000 83 35 0 0 0.00170553 0 0 HHAT 55733 broad.mit.edu 37 1 210637944 210637944 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:210637944C>T uc010psr.2 + 6 1060 c.955C>T c.(955-957)Cca>Tca p.P319S HHAT_uc009xcx.3_Missense_Mutation_p.P318S|HHAT_uc010psq.2_Missense_Mutation_p.P181S|HHAT_uc009xcy.3_Missense_Mutation_p.P253S|HHAT_uc010pss.2_Missense_Mutation_p.P273S|HHAT_uc010pst.2_Missense_Mutation_p.P255S|HHAT_uc001hhz.4_Missense_Mutation_p.P318S|HHAT_uc021pip.1_Missense_Mutation_p.P318S|HHAT_uc010psu.2_Missense_Mutation_p.P253S|HHAT_uc001hia.4_Missense_Mutation_p.P8S NM_001170587 NP_001164058 Q5VTY9 HHAT_HUMAN Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA. 318 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) TGGACTCACTCCACCCGCCCT 0.587000 44 28 0 0 0.000878237 0 0 CHAD 1101 broad.mit.edu 37 17 48542684 48542684 + Missense_Mutation SNP C T T rs142153342 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:48542684C>T uc010dbr.3 - 2 1108 c.1055G>A c.(1054-1056)aGg>aAg p.R352K ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.3_Missense_Mutation_p.R352K NM_001267 NP_001258 O15335 CHAD_HUMAN Homo sapiens chondroadherin (CHAD), mRNA. 352 regulation of cell growth proteinaceous extracellular matrix extracellular matrix structural constituent central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2) 15 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) TTTCTTGGACCTCTTGGTGGG 0.592000 22 19 0 0 0.00188189 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43777712 43777712 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:43777712C>T uc010skx.2 - 29 4521 c.4521G>A c.(4519-4521)caG>caA p.Q1507Q NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 1507 TSP type-1 12. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTTCAACCACCTGACCAACAC 0.502000 43 29 0 0 0.00127121 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41054925 41054925 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:41054925G>A uc003jmj.4 - 10 1541 c.1051C>T c.(1051-1053)Cac>Tac p.H351Y HEATR7B2_uc003jmi.4_Intron NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 351 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 GAAATGATGTGATCCCTCAAC 0.373000 61 29 0 0 0.0024448 0 0 MARC2 54996 broad.mit.edu 37 1 220955232 220955232 + Silent SNP C A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:220955232C>A uc001hmq.3 + 6 1195 c.997C>A c.(997-999)Cgg>Agg p.R333R MARC2_uc001hmr.3_Silent_p.R333R|MARC2_uc009xdx.3_Intron NM_017898 NP_060368 Q969Z3 MOSC2_HUMAN Homo sapiens mitochondrial amidoxime reducing component 2 (MARC2), nuclear gene encoding mitochondrial protein, mRNA. 333 MOSC. mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding CCCTGTGTATCGGATGGTGTA 0.433000 98 37 1.22674e-20 3.87847e-20 0.00195071 1 0 CCDC141 285025 broad.mit.edu 37 2 179732807 179732807 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179732807G>A uc002une.2 - 15 2638 c.2520C>T c.(2518-2520)ctC>ctT p.L840L CCDC141_uc002unf.1_Silent_p.L319L NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 265 Ig-like. protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CCAGTCTGTGGAGATGGTCTA 0.512000 50 16 0 0 0.00121646 0 0 SETX 23064 broad.mit.edu 37 9 135139746 135139746 + Silent SNP G A A rs80296256 by1000genomes TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:135139746G>A uc004cbk.3 - 25 8097 c.7914C>T c.(7912-7914)ttC>ttT p.F2638F SETX_uc004cbj.3_Silent_p.F2286F|SETX_uc010mzt.3_Silent_p.F2224F NM_015046 NP_055861 Q7Z333 SETX_HUMAN Homo sapiens senataxin (SETX), mRNA. 2638 RNA processing|cell death|double-strand break repair cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CCCCTTCACTGAAAGCCCTGG 0.592000 194 150 0 0 0.00361006 0 0 C20orf152 140894 broad.mit.edu 37 20 34596326 34596326 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:34596326G>A uc002xer.1 + 8 1234 c.1078G>A c.(1078-1080)Ggg>Agg p.G360R C20orf152_uc002xes.1_Missense_Mutation_p.G360R|C20orf152_uc010gfp.1_Non-coding_Transcript NM_080834 NP_543024 Q96M20 CT152_HUMAN Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA. 360 breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1) 18 Breast(12;0.00631) GGGGCTACAGGGGACAAGCTT 0.493000 56 31 0 0 0.00327116 0 0 AVP 551 broad.mit.edu 37 20 3065240 3065240 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:3065240C>T uc002whu.3 - 0 131 c.81G>A c.(79-81)agG>agA p.R27R NM_000490 NP_000481 P01185 NEU2_HUMAN Homo sapiens arginine vasopressin (AVP), mRNA. 27 ERK1 and ERK2 cascade|cell-cell signaling|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport cytosol|soluble fraction V1A vasopressin receptor binding|caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity central_nervous_system(1)|prostate(1)|skin(1) 3 COAD - Colon adenocarcinoma(99;0.00643) TCTTGCCGCCCCTCGGGCAGT 0.647000 83 29 0 0 0.00327116 0 0 EPPK1 83481 broad.mit.edu 37 8 144941947 144941947 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:144941947C>T uc003zaa.1 - 0 5488 c.5475G>A c.(5473-5475)gaG>gaA p.E1825E NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 1825 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) CCAGCAATTTCTCCAGGCCCC 0.547000 103 56 0 0 0.00361006 0 0 NLRP5 126206 broad.mit.edu 37 19 56539225 56539225 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:56539225G>A uc002qmj.3 + 6 1626 c.1626G>A c.(1624-1626)agG>agA p.R542R NLRP5_uc002qmi.3_Silent_p.R523R NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 542 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGTGGAATAGGAAGTCAGTGT 0.562000 18 6 0 0 0.00116845 0 0 IL4 3565 broad.mit.edu 37 5 132018273 132018273 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:132018273G>A uc003kxk.1 + 3 826 c.456G>A c.(454-456)tcG>tcA p.S152S IL4_uc003kxl.1_Silent_p.S136S NM_000589 NP_000580 P05112 IL4_HUMAN Homo sapiens interleukin 4 (IL4), transcript variant 1, mRNA. 152 B cell differentiation|T-helper 2 cell cytokine production|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity|growth factor activity|interleukin-4 receptor binding p.S152L(1) NS(1)|large_intestine(3)|lung(3)|prostate(1) 8 all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.00245) CAAAGTGTTCGAGCTGAATAT 0.299000 40 11 0 0 0.000673444 0 0 ENC1 8507 broad.mit.edu 37 5 73931665 73931665 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:73931665T>C uc003kdc.4 - 1 1777 c.646A>G c.(646-648)Aac>Gac p.N216D ENC1_uc011css.2_Missense_Mutation_p.N143D|ENC1_uc021yao.1_Missense_Mutation_p.N216D NM_003633 NP_003624 O14682 ENC1_HUMAN Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA. 216 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) CTGATCCAGTTAATTGCAGAC 0.498000 45 21 0 0 0.00152264 0 0 GRM4 2914 broad.mit.edu 37 6 34008079 34008079 + Missense_Mutation SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:34008079T>C uc003oir.4 - 6 1745 c.1382A>G c.(1381-1383)aAc>aGc p.N461S GRM4_uc011dsn.2_Missense_Mutation_p.N414S|GRM4_uc010jvh.3_Missense_Mutation_p.N461S|GRM4_uc010jvi.3_Missense_Mutation_p.N153S|GRM4_uc003oio.3_Missense_Mutation_p.N153S|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.N321S|GRM4_uc003oiq.3_Missense_Mutation_p.N328S|GRM4_uc011dsm.2_Missense_Mutation_p.N292S NM_000841 NP_000832 Q14833 GRM4_HUMAN Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA. 461 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GGTCACAGGGTTCCCTGCGAT 0.577000 91 24 0 0 0.00395357 0 0 PLXNA3 55558 broad.mit.edu 37 X 153698863 153698863 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:153698863G>A uc004flm.3 + 29 5238 c.5065G>A c.(5065-5067)Gcc>Acc p.A1689T NM_017514 NP_059984 P51805 PLXA3_HUMAN Homo sapiens plexin A3 (PLXNA3), mRNA. 1689 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCTGCCCCTGGCCATCAAGTA 0.612000 19 30 0 0 0.00178596 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37451713 37451713 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:37451713G>A uc021ppc.1 + 16 1870 c.1771G>A c.(1771-1773)Gaa>Aaa p.E591K ANKRD30A_uc001iza.1_Missense_Mutation_p.E591K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 647 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 GCCTGCCACTGAAATGCAAAA 0.303000 90 49 0 0 0.00361006 0 0 BPIFB4 149954 broad.mit.edu 37 20 31672707 31672707 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:31672707C>T uc010zue.2 + 3 702 c.687C>T c.(685-687)atC>atT p.I229I NM_182519 NP_872325 P59827 LPLC4_HUMAN Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA. 229 I -> V (in dbSNP:rs2070325). cytoplasm|extracellular region lipid binding GGCTGCGTATCGTGGAGCTGA 0.662000 10 11 0 0 0.00136819 0 0 MDGA1 266727 broad.mit.edu 37 6 37631751 37631751 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:37631751G>A uc003onu.1 - 1 1378 c.199C>T c.(199-201)Cga>Tga p.R67* NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA. 67 Ig-like 1. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane p.R67R(2) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 ACCTGGGGTCGAGGGTGCCCT 0.602000 22 12 0 0 0.000978159 0 0 CYLC2 1539 broad.mit.edu 37 9 105767772 105767772 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:105767772G>A uc004bbs.2 + 4 929 c.859G>A c.(859-861)Gat>Aat p.D287N NM_001340 NP_001331 Q14093 CYLC2_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA. 287 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) CTCAAAGGATgatgtcaagaa 0.398000 29 11 0 0 0.00136819 0 0 STRN 6801 broad.mit.edu 37 2 37085021 37085021 + Silent SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:37085021T>A uc002rpn.3 - 13 1824 c.1815A>T c.(1813-1815)ctA>ctT p.L605L STRN_uc010ezx.3_Silent_p.L568L NM_003162 NP_003153 O43815 STRN_HUMAN Homo sapiens striatin, calmodulin binding protein (STRN), mRNA. 605 Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) TAAATACACTTAGTGCTGGAG 0.363000 30 10 0 0 0.00136819 0 0 CRAT 1384 broad.mit.edu 37 9 131870246 131870247 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:131870246_131870247GG>AA uc004bxh.3 - 1 419_420 c.137_138CC>TT c.(136-138)tcc>tTT p.S46F CRAT_uc004bxk.4_Missense_Mutation_p.S25F|CRAT_uc004bxj.2_Missense_Mutation_p.S47F|PPP2R4_uc004bxl.2_5'Flank NM_000755 NP_000746 P43155 CACP_HUMAN Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 46 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) AGTGGTCCAGGGACTGCTGGAG 0.624000 62 9 0 0 6.4e-05 0 0 BAI3 577 broad.mit.edu 37 6 69348689 69348689 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:69348689C>T uc010kak.3 + 1 398 c.122C>T c.(121-123)tCg>tTg p.S41L BAI3_uc003pev.4_Missense_Mutation_p.S41L NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 41 CUB. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATTTATGGATCGTATTCTGTA 0.368000 43 20 0 0 0.00188189 0 0 RBM44 375316 broad.mit.edu 37 2 238738075 238738075 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:238738075C>T uc002vxi.4 + 12 2951 c.2819C>T c.(2818-2820)tCt>tTt p.S940F NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN Homo sapiens RNA binding motif protein 44 (RBM44), mRNA. 939 RNA binding|nucleotide binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) TTCTCCATTTCTAGATTGCCC 0.413000 107 41 0 0 0.00195071 0 0 GABRR2 2570 broad.mit.edu 37 6 89967511 89967511 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:89967511G>A uc003pnb.2 - 8 1359 c.1351C>T c.(1351-1353)Ctg>Ttg p.L451L GABRR2_uc011dzx.1_Silent_p.L327L NM_002043 NP_002034 P28476 GBRR2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA. 451 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) TGGCCCTTCAGAAGCCCCTTC 0.473000 26 16 0 0 0.000566183 0 0 CYFIP2 26999 broad.mit.edu 37 5 156734867 156734867 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:156734867C>T uc021ygm.1 + 8 1029 c.891C>T c.(889-891)ttC>ttT p.F297F CYFIP2_uc011ddn.2_Silent_p.F272F|CYFIP2_uc011ddo.2_Silent_p.F102F|CYFIP2_uc021ygn.1_Silent_p.F297F|CYFIP2_uc021ygo.1_Silent_p.F297F|CYFIP2_uc003lwt.3_Silent_p.F176F|CYFIP2_uc011ddp.2_Silent_p.F32F NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA. 298 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) TTGATAAATTCTTTAAGGTCA 0.458000 184 67 0 0 0.00361006 0 0 PTPN11 5781 broad.mit.edu 37 12 112891006 112891006 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:112891006C>T uc001ttx.3 + 3 720 c.340C>T c.(340-342)Cat>Tat p.H114Y PTPN11_uc001ttw.1_Missense_Mutation_p.H114Y NM_002834 NP_002825 Q06124 PTN11_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA. 114 SH2 2. T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 TAGGTGGTTTCATGGACATCT 0.358000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 78 25 0 0 0.000878237 0 0 DNAJB2 3300 broad.mit.edu 37 2 220147566 220147566 + Silent SNP G T T rs149109769 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:220147566G>T uc002vkx.1 + 5 597 c.360G>T c.(358-360)ctG>ctT p.L120L DNAJB2_uc002vkw.1_Silent_p.L120L|DNAJB2_uc010zlb.1_5'UTR NM_006736 NP_006727 P25686 DNJB2_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2 (DNAJB2), transcript variant 2, mRNA. 120 ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein inclusion body Hsp70 protein binding|heat shock protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 Renal(207;0.0474) Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGATGACCTGGGCCCCTTCT 0.512000 101 6 0.00307968 0.00956451 0.00307968 1 0 OR2F1 26211 broad.mit.edu 37 7 143657981 143657982 + Nonsense_Mutation DNP GA AG AG TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:143657981_143657982GA>AG uc003wds.1 + 0 962_963 c.918_919GA>AG c.(916-921)tggaaa>tgAGaa p.306_307WK>*E NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W306C(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) AACTATTATGGAAATTCTCTGG 0.431000 46 14 0 0 6.4e-05 0 0 ZNF177 7730 broad.mit.edu 37 19 9492327 9492327 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9492327G>A uc021uon.1 + 5 1481 c.1320G>A c.(1318-1320)agG>agA p.R440R ZNF177_uc002mli.3_Silent_p.R280R|ZNF177_uc002mlj.3_3'UTR|ZNF177_uc002mlk.3_Silent_p.R280R NM_001172651 NP_001166122 Q13360 ZN177_HUMAN Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA. 280 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2) 13 CTTGCCTGAGGGTACACGTGA 0.433000 87 32 0 0 0.001512 0 0 OR52E2 119678 broad.mit.edu 37 11 5079889 5079889 + Silent SNP C T T rs148031312 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:5079889C>T uc010qyw.2 - 0 969 c.969G>A c.(967-969)acG>acA p.T323T NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA. 323 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) TTCAGAACCTCGTATGTATTA 0.318000 49 21 0 0 0.00278032 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68179591 68179591 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:68179591C>T uc003xxo.2 - 10 2049 c.1659G>A c.(1657-1659)acG>acA p.T553T ARFGEF1_uc003xxl.1_Silent_p.T7T NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA. 553 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CACAAATCCTCGTCAGTGTCT 0.303000 82 31 0 0 0.00111076 0 0 DNAH11 8701 broad.mit.edu 37 7 21765493 21765493 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:21765493C>T uc003svc.3 + 45 7383 c.7352C>T c.(7351-7353)cCg>cTg p.P2451L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 2451 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GTGAAATTTCCGTCGCAGGGA 0.403000 Kartagener syndrome 15 5 0 0 0.00116845 0 0 PTPRR 5801 broad.mit.edu 37 12 71147971 71147971 + Splice_Site SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:71147971C>T uc001swi.2 - 5 1152 c.738_splice c.e5+1 p.M246_splice PTPRR_uc001swh.2_Splice_Site_p.M1_splice|PTPRR_uc009zrs.3_Splice_Site_p.M40_splice|PTPRR_uc010stq.2_Splice_Site_p.M134_splice|PTPRR_uc010str.1_Splice_Site_p.M95_splice NM_002849 NP_570897 Q15256 PTPRR_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA. 246 in utero embryonic development Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) GCAAACTTACCATCAAACACG 0.373000 28 8 0 0 0.000442599 0 0 KCNA4 3739 broad.mit.edu 37 11 30032434 30032434 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:30032434G>A uc021qfi.1 - 0 1792 c.1792C>T c.(1792-1794)Cgg>Tgg p.R598W KCNA4_uc001msk.3_Missense_Mutation_p.R598W NM_002233 NP_002224 P22459 KCNA4_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA. 598 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity p.R598W(2) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 GTAGAGCTCCGAAATTTCTTG 0.458000 23 9 0 0 0.000274275 0 0 TDRKH 11022 broad.mit.edu 37 1 151748675 151748675 + Nonsense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:151748675G>A uc009wnb.1 - 7 1296 c.1114C>T c.(1114-1116)Cga>Tga p.R372* TDRKH_uc001eyy.2_Nonsense_Mutation_p.R148*|TDRKH_uc001ezb.4_Nonsense_Mutation_p.R368*|TDRKH_uc001ezc.4_Nonsense_Mutation_p.R327*|TDRKH_uc001eza.4_Nonsense_Mutation_p.R372*|TDRKH_uc001ezd.4_Nonsense_Mutation_p.R372*|TDRKH_uc010pdn.1_Nonsense_Mutation_p.R148* NM_006862 NP_006853 Q9Y2W6 TDRKH_HUMAN Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA. 372 Tudor. RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) ACCCGGGCTCGATACCAGGAA 0.507000 59 40 0 0 0.00195071 0 0 STARD3NL 83930 broad.mit.edu 37 7 38259190 38259190 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:38259190C>T uc003tfr.3 + 6 851 c.578C>T c.(577-579)tCa>tTa p.S193L NM_032016 NP_114405 O95772 MENTO_HUMAN Homo sapiens STARD3 N-terminal like (STARD3NL), mRNA. 193 MENTAL. integral to membrane|late endosome membrane endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 CAGGATGCTTCAGAGAGGGCA 0.408000 96 52 0 0 0.00361006 0 0 HYDIN 54768 broad.mit.edu 37 16 70891710 70891710 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:70891710G>A uc002ezr.3 - 71 12341 c.12190C>T c.(12190-12192)Ccc>Tcc p.P4064S HYDIN_uc010cfy.3_Non-coding_Transcript NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 4065 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) TTGTGCTCGGGAATTAGGAAG 0.468000 32 6 0 0 0.000274275 0 0 KIAA0947 23379 broad.mit.edu 37 5 5464486 5464486 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:5464486C>T uc003jdm.4 + 12 5261 c.5039C>T c.(5038-5040)gCc>gTc p.A1680V NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN Homo sapiens KIAA0947 (KIAA0947), mRNA. 1680 Pro-rich. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 GTGCCTCCTGCCATGTCTCCA 0.577000 113 62 0 0 0.00361006 0 0 ANK2 287 broad.mit.edu 37 4 114277268 114277268 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:114277268C>T uc003ibe.4 + 37 7594 c.7494C>T c.(7492-7494)ctC>ctT p.L2498L ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.L2513L NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 2465 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AAACAGAACTCTTGACGGAAG 0.537000 47 30 0 0 0.001512 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3677938 3677938 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:3677938G>A uc002wja.3 - 8 2174 c.2174C>T c.(2173-2175)gCc>gTc p.A725V SIGLEC1_uc002wiz.4_Missense_Mutation_p.A725V NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 725 Ig-like C2-type 7. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 AGTCAAGTTGGCTTCTGTGCC 0.632000 31 10 0 0 0.000978159 0 0 ADAM30 11085 broad.mit.edu 37 1 120437263 120437264 + Missense_Mutation DNP GG TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:120437263_120437264GG>TT uc001eij.3 - 0 1884_1885 c.1696_1697CC>AA c.(1696-1698)cct>AAt p.P566N NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 566 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) TGGCAAATCAGGGATGGTTTCA 0.386000 840 21 0 0 6.4e-05 0 0 SAMD4A 23034 broad.mit.edu 37 14 55168868 55168868 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:55168868C>T uc001xbb.3 + 1 590 c.282C>T c.(280-282)ctC>ctT p.L94L SAMD4A_uc001xba.3_Silent_p.L95L|SAMD4A_uc001xbc.3_Silent_p.L95L|SAMD4A_uc001xbf.2_Non-coding_Transcript|SAMD4A_uc001xbe.3_5'UTR NM_015589 NP_056404 Q9UPU9 SMAG1_HUMAN Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA. 95 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 CAGGAAACCTCGACGCGAAAG 0.458000 27 14 0 0 0.00185496 0 0 AXDND1 126859 broad.mit.edu 37 1 179398701 179398701 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:179398701G>A uc001gmo.3 + 12 1666 c.1279G>A c.(1279-1281)Gaa>Aaa p.E427K AXDND1_uc001gmn.2_Missense_Mutation_p.E215K|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E385K NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA. 427 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 TTACCTTAATGAAAAAGGCTG 0.318000 46 20 0 0 0.00278032 0 0 CTAG2 30848 broad.mit.edu 37 X 153880690 153880690 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:153880690C>T uc004fmi.2 - 1 549 c.485G>A c.(484-486)gGg>gAg p.G162E CTAG2_uc004fmh.2_Intron NM_020994 NP_066274 O75638 CTAG2_HUMAN Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA. 162 centrosome central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGCTTTCTGCCCCTCCGGGGA 0.632000 15 35 0 0 0.00128727 0 0 HIVEP2 3097 broad.mit.edu 37 6 143074913 143074913 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:143074913G>A uc003qjd.3 - 9 7415 c.6672C>T c.(6670-6672)gcC>gcT p.A2224A NM_006734 NP_006725 P31629 ZEP2_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA. 2224 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TGGGGATAGGGGCTCGCACTT 0.542000 63 32 0 0 0.00283554 0 0 MEPE 56955 broad.mit.edu 37 4 88767097 88767097 + Silent SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:88767097T>C uc021xpx.1 + 3 1182 c.1170T>C c.(1168-1170)gaT>gaC p.D390D MEPE_uc021xpu.1_Silent_p.D359D|MEPE_uc021xpv.1_Silent_p.D246D|MEPE_uc021xpw.1_Silent_p.D246D|MEPE_uc010ikn.3_Silent_p.D246D|MEPE_uc003hqy.3_Silent_p.D359D|MEPE_uc021xpy.1_Silent_p.D246D NM_001184697 NP_001171626 Q9NQ76 MEPE_HUMAN Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA. 359 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) ACAGAGTGGATGCTGGCAGCC 0.473000 31 12 0 0 0.00185496 0 0 STAB2 55576 broad.mit.edu 37 12 104084258 104084258 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:104084258C>T uc001tjw.3 + 29 3425 c.3239C>T c.(3238-3240)tCt>tTt p.S1080F NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 1080 FAS1 3. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CTGTCTTCTTCTGACATGTTG 0.418000 52 34 0 0 0.00195071 0 0 CXorf22 170063 broad.mit.edu 37 X 35993901 35993901 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:35993901G>A uc004ddj.3 + 14 2650 c.2584G>A c.(2584-2586)Ggc>Agc p.G862S CXorf22_uc010ngv.3_Non-coding_Transcript NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 862 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 GAGACCACGAGGCTTCTTCAT 0.443000 39 51 0 0 0.00361006 0 0 SLC5A9 200010 broad.mit.edu 37 1 48697256 48697256 + Missense_Mutation SNP C G G rs147266128 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:48697256C>G uc001crn.2 + 6 777 c.725C>G c.(724-726)aCg>aGg p.T242R SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Missense_Mutation_p.T217R|SLC5A9_uc010omt.1_Missense_Mutation_p.T231R|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR NM_001135181 NP_001128653 Q2M3M2 SC5A9_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA. 217 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity p.G241E(1) breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 GCTCTGCAGACGGTGATCATG 0.542000 13 14 0 0 0.00074312 0 0 XIRP2 129446 broad.mit.edu 37 2 168107053 168107053 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:168107053G>A uc002udx.3 + 8 9240 c.9151G>A c.(9151-9153)Gaa>Aaa p.E3051K XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E2876K|XIRP2_uc010fpq.3_Missense_Mutation_p.E2829K|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2876 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 TAGTCTTGATGAAACATCATC 0.353000 79 42 0 0 0.00361006 0 0 OTUD7A 161725 broad.mit.edu 37 15 31793992 31793992 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:31793992G>A uc001zfq.3 - 7 1144 c.1051C>T c.(1051-1053)Ccc>Tcc p.P351S OTUD7A_uc001zfr.3_Missense_Mutation_p.P358S NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN Homo sapiens OTU domain containing 7A (OTUD7A), mRNA. 351 Catalytic (By similarity).|OTU.|TRAF-binding (By similarity). cytoplasm|nucleus DNA binding|cysteine-type peptidase activity|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CATCTGTTGGGAGGGACCTCC 0.577000 18 21 0 0 0.00188189 0 0 ADAD1 132612 broad.mit.edu 37 4 123301320 123301320 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:123301320G>A uc003ieo.3 + 2 328 c.96G>A c.(94-96)acG>acA p.T32T ADAD1_uc003iep.3_Silent_p.T32T|ADAD1_uc003ieq.3_Silent_p.T14T NM_139243 NP_001152767 Q96M93 ADAD1_HUMAN Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA. 32 RNA processing|multicellular organismal development nucleus adenosine deaminase activity|double-stranded RNA binding p.K31K(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 CGACAAAGACGATAACTACAC 0.468000 43 21 0 0 0.00229938 0 0 SPRR2G 6706 broad.mit.edu 37 1 153122505 153122505 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:153122505G>A uc021ozu.1 - 0 82 c.82C>T c.(82-84)Cca>Tca p.P28S SPRR2G_uc009wod.2_Missense_Mutation_p.P28S NM_001014291 NP_001014313 Q9BYE4 SPR2G_HUMAN Homo sapiens small proline-rich protein 2G (SPRR2G), mRNA. 28 3 X 9 AA approximate tandem repeats. keratinization cornified envelope|cytoplasm p.P28S(2) endometrium(1)|lung(1)|skin(1) 3 all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TTCGGGGGTGGACATGGCTCT 0.597000 50 26 0 0 0.00178596 0 0 SDPR 8436 broad.mit.edu 37 2 192701434 192701434 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:192701434C>T uc002utb.3 - 1 848 c.493G>A c.(493-495)Gag>Aag p.E165K NM_004657 NP_004648 O95810 SDPR_HUMAN Homo sapiens serum deprivation response (SDPR), mRNA. 165 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GCAGGGATCTCATTTTCCTCC 0.468000 12 6 0 0 0.00198382 0 0 OR4A15 81328 broad.mit.edu 37 11 55135991 55135991 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:55135991C>T uc010rif.2 + 0 632 c.632C>T c.(631-633)cCc>cTc p.P211L NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA. 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GATTTGTATCCCTTATTGAAA 0.413000 29 30 0 0 0.00327116 0 0 A2M 2 broad.mit.edu 37 12 9262611 9262611 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:9262611G>A uc001qvk.1 - 5 638 c.525C>T c.(523-525)atC>atT p.I175I A2M_uc009zgk.1_Silent_p.I25I NM_000014 NP_000005 P01023 A2MG_HUMAN Homo sapiens alpha-2-macroglobulin (A2M), mRNA. 175 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding p.I175I(2)|p.R174H(1) breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) GCCATTGTGCGATGCGATTTC 0.433000 97 49 0 0 0.00361006 0 0 HTR2A 3356 broad.mit.edu 37 13 47409042 47409042 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:47409042C>T uc010acr.3 - 3 2035 c.1346G>A c.(1345-1347)gGa>gAa p.G449E HTR2A_uc001vbr.3_Missense_Mutation_p.G365E NM_000621 NP_000612 P28223 5HT2A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA. 449 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) ATGCTGCTTTCCTAGAGCAAC 0.448000 92 41 0 0 0.0025221 0 0 TCRVA15 0 broad.mit.edu 37 14 22217917 22217917 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:22217917G>A uc010aiq.1 + 1 347 c.268G>A c.(268-270)Gat>Aat p.D90N TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Missense_Mutation_p.D86N Homo sapiens mRNA for T cell receptor alpha variable 5, partial cds, clone: SEB 96. GAATAAAAAGGATAAACATCT 0.433000 28 17 0 0 0.00074312 0 0 TRANK1 9881 broad.mit.edu 37 3 36874203 36874203 + Missense_Mutation SNP C G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:36874203C>G uc003cgj.3 - 20 6987 c.6739G>C c.(6739-6741)Gaa>Caa p.E2247Q NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2247 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TTGAGGATTTCTTTGCATGCC 0.433000 28 35 0 0 0.00222228 0 0 SLC22A9 114571 broad.mit.edu 37 11 63141131 63141131 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:63141131C>T uc001nww.3 + 2 790 c.522C>T c.(520-522)ttC>ttT p.F174F SLC22A9_uc001nwx.3_Intron NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA. 174 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 GGAGAAGGTTCGTGCTCAGAT 0.458000 25 21 0 0 0.00229938 0 0 CCDC63 160762 broad.mit.edu 37 12 111321930 111321930 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:111321930G>A uc001trv.1 + 7 1145 c.950G>A c.(949-951)gGg>gAg p.G317E CCDC63_uc010sye.1_Missense_Mutation_p.G277E|CCDC63_uc001trw.1_Missense_Mutation_p.G232E NM_152591 NP_689804 Q8NA47 CCD63_HUMAN Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA. 317 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 GCTGAGAGTGGGAACCTAAAC 0.502000 75 39 0 0 0.00128727 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724243 7724243 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:7724243G>A uc001aoi.3 + 8 1843 c.1636G>A c.(1636-1638)Gaa>Aaa p.E546K NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA. 546 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GATGGCCAAAGAAGCGTACTC 0.682000 T WWTR1 epitheliod hemangioendothelioma 12 27 0 0 0.00178596 0 0 SCEL 8796 broad.mit.edu 37 13 78214846 78214846 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:78214846G>A uc001vki.3 + 30 2044 c.1874G>A c.(1873-1875)cGa>cAa p.R625Q SCEL_uc010thx.2_Missense_Mutation_p.R583Q|SCEL_uc001vkj.3_Missense_Mutation_p.R605Q NM_144777 NP_659001 O95171 SCEL_HUMAN Homo sapiens sciellin (SCEL), transcript variant 1, mRNA. 625 LIM zinc-binding. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) ACTTACTGCCGAAAACCCTTG 0.313000 41 24 0 0 0.00127121 0 0 FAM75A6 389730 broad.mit.edu 37 9 43625386 43625386 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:43625386G>A uc011lrb.2 - 3 3330 c.3301C>T c.(3301-3303)Ccc>Tcc p.P1101S NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA. 1101 integral to membrane breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1) 54 TGAATAGGGGGAAACATTGGC 0.488000 141 62 0 0 0.00361006 0 0 DIP2B 57609 broad.mit.edu 37 12 51135318 51135318 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:51135318G>A uc001rwv.3 + 36 4630 c.4474G>A c.(4474-4476)Gaa>Aaa p.E1492K DIP2B_uc009zlt.3_Missense_Mutation_p.E922K NM_173602 NP_775873 Q9P265 DIP2B_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA. 1492 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 AAGCATTGCTGAATGGTAACT 0.468000 42 19 0 0 0.00188189 0 0 ADCY8 114 broad.mit.edu 37 8 131880124 131880124 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:131880124G>A uc003ytd.4 - 8 2434 c.2178C>T c.(2176-2178)atC>atT p.I726I ADCY8_uc010mds.3_Intron NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 726 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) GTATTGCCGTGATAAATAGAA 0.348000 HNSCC(32;0.087) 40 19 0 0 0.00188189 0 0 MUC16 94025 broad.mit.edu 37 19 9063888 9063888 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9063888G>A uc002mkp.3 - 2 23762 c.23558C>T c.(23557-23559)tCt>tTt p.S7853F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7855 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 GGGCACTTTAGAGAGGACAGT 0.547000 29 11 0 0 0.000673444 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588761 140588761 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140588761G>A uc003liz.3 + 0 471 c.282G>A c.(280-282)gaG>gaA p.E94E PCDHB12_uc011dak.2_Intron NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 94 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.E94D(2) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAGGGAGGAGCTCTGTGGCT 0.478000 49 22 0 0 0.00152264 0 0 SLC3A1 6519 broad.mit.edu 37 2 44547676 44547676 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:44547676G>A uc002ruc.4 + 9 2034 c.1956G>A c.(1954-1956)acG>acA p.T652T PREPL_uc002rug.3_3'UTR|PREPL_uc002ruh.3_3'UTR|PREPL_uc002ruf.3_3'UTR|PREPL_uc010fax.3_3'UTR|PREPL_uc002rui.4_3'UTR|PREPL_uc002ruj.2_3'UTR|PREPL_uc002ruk.2_3'UTR|SLC3A1_uc002rud.4_Silent_p.T374T|SLC3A1_uc002rue.4_Silent_p.T272T NM_000341 NP_000332 Q07837 SLC31_HUMAN Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA. 652 T -> R (in CSNU1). carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) AACACAACACGAAGAATCTCC 0.418000 43 21 0 0 0.00278032 0 0 CACNA1B 774 broad.mit.edu 37 9 140953056 140953056 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:140953056C>T uc004cog.3 + 28 4489 c.4344C>T c.(4342-4344)ccC>ccT p.P1448P CACNA1B_uc022bqn.1_Silent_p.P1448P|CACNA1B_uc011mfd.2_Silent_p.P1049P|CACNA1B_uc004coi.3_Silent_p.P662P NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 1448 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GCGCCAAACCCCTGACACGGT 0.527000 17 14 0 0 0.00074312 0 0 OR4S1 256148 broad.mit.edu 37 11 48327915 48327915 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:48327915C>T uc010rhu.2 + 0 141 c.141C>T c.(139-141)atC>atT p.I47I NM_001004725 NP_001004725 Q8NGB4 OR4S1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA. 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 TCATCACCATCAATGCTAGAA 0.448000 70 38 0 0 0.00111076 0 0 TRIM15 89870 broad.mit.edu 37 6 30134956 30134956 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:30134956C>T uc010jrx.3 + 1 864 c.385C>T c.(385-387)Cgt>Tgt p.R129C NM_033229 NP_150232 Q9C019 TRI15_HUMAN Homo sapiens tripartite motif containing 15 (TRIM15), mRNA. 129 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 CCCACAGGATCGTCTCAGGAG 0.468000 81 29 0 0 0.00327116 0 0 DPYD 1806 broad.mit.edu 37 1 98205983 98205983 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:98205983C>T uc001drv.3 - 3 423 c.286G>A c.(286-288)Gat>Aat p.D96N DPYD_uc010oub.1_Non-coding_Transcript|DPYD_uc001drw.3_Missense_Mutation_p.D96N NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 96 4Fe-4S ferredoxin-type 1. 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GATTTAATATCAAGATTAGTT 0.323000 119 64 0 0 0.00361006 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834329 125834329 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:125834329C>T uc001uhe.1 + 1 392 c.384C>T c.(382-384)tcC>tcT p.S128S TMEM132B_uc021rgl.1_Silent_p.S18S NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 128 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TTGACAGCTCCATCTACTCCA 0.468000 91 40 0 0 0.00222228 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83374994 83374994 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:83374994C>T uc004eej.2 - 8 724 c.688G>A c.(688-690)Gct>Act p.A230T RPS6KA6_uc011mqt.2_Missense_Mutation_p.A230T|RPS6KA6_uc011mqu.2_Missense_Mutation_p.A127T|RPS6KA6_uc010nmo.1_Non-coding_Transcript NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA. 230 Protein kinase 1. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 AATGAGTAAGCCTTCTTTTCT 0.373000 15 17 0 0 0.000958276 0 0 TRHDE 29953 broad.mit.edu 37 12 72771779 72771779 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:72771779G>A uc001sxa.3 + 2 1088 c.1058G>A c.(1057-1059)cGa>cAa p.R353Q NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 353 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.R353Q(2)|p.R353*(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 aattaGGTACGATTATATGCA 0.313000 29 15 0 0 0.00244969 0 0 ANKRD33 341405 broad.mit.edu 37 12 52284533 52284533 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:52284533G>A uc001rzd.3 + 4 981 c.803G>A c.(802-804)gGg>gAg p.G268E ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.G143E|ANKRD33_uc001rze.3_Missense_Mutation_p.G164E|ANKRD33_uc001rzg.4_Missense_Mutation_p.G70E|ANKRD33_uc001rzi.4_Missense_Mutation_p.G143E NM_182608 NP_872414 Q7Z3H0 ANR33_HUMAN Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA. 143 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) GCCTTGTCCGGGCTCGTggcc 0.667000 17 9 0 0 0.000442599 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6055779 6055779 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:6055779C>T uc010idb.1 - 12 2290 c.1804G>A c.(1804-1806)Gaa>Aaa p.E602K JAKMIP1_uc010idc.1_Missense_Mutation_p.E417K|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Missense_Mutation_p.E602K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.E437K|JAKMIP1_uc003giv.4_Missense_Mutation_p.E602K|JAKMIP1_uc010ide.3_3'UTR NM_001099433 NP_001092903 Q96N16 JKIP1_HUMAN Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA. 602 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding p.L601L(1) NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCTCTTACTTCGAGTTCTAGC 0.403000 113 50 0 0 0.00361006 0 0 ZNF229 7772 broad.mit.edu 37 19 44934018 44934018 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:44934018C>T uc002oze.1 - 5 1372 c.938G>A c.(937-939)aGa>aAa p.R313K ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.R307K NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN Homo sapiens zinc finger protein 229 (ZNF229), mRNA. 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TGTGGGAACTCTTTGATGTCT 0.507000 21 5 0 0 0.00198382 0 0 FAT4 79633 broad.mit.edu 37 4 126412600 126412600 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:126412600G>A uc003ifj.4 + 16 14623 c.14623G>A c.(14623-14625)Gaa>Aaa p.E4875K FAT4_uc011cgp.2_Missense_Mutation_p.E3116K|FAT4_uc003ifi.1_Missense_Mutation_p.E2352K NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 4875 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 TCAAGTCAATGAATCTGATGC 0.483000 38 20 0 0 0.00152264 0 0 SMARCA1 6594 broad.mit.edu 37 X 128645872 128645872 + Missense_Mutation SNP G T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:128645872G>T uc011muk.1 - 5 832 c.719C>A c.(718-720)cCa>cAa p.P240Q SMARCA1_uc004eun.4_Missense_Mutation_p.P240Q|SMARCA1_uc004eup.4_Missense_Mutation_p.P240Q|SMARCA1_uc011mul.1_Missense_Mutation_p.P240Q NM_003069 NP_003060 P28370 SMCA1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA. 240 Helicase ATP-binding. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 AGTAGACTTTGGAACTAAAAC 0.413000 182 7 0.00198382 0.00617672 0.00198382 1 0 LINGO1 84894 broad.mit.edu 37 15 77906604 77906604 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:77906604G>A uc002bct.1 - 1 1697 c.1645C>T c.(1645-1647)Cct>Tct p.P549S LINGO1_uc002bcu.1_Missense_Mutation_p.P543S NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN Homo sapiens leucine rich repeat and Ig domain containing 1 (LINGO1), mRNA. 549 negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 AAGGGGAAAGGCACAGTGGCG 0.607000 24 50 0 0 0.00361006 0 0 COPS4 51138 broad.mit.edu 37 4 83970440 83970440 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:83970440C>T uc003hoa.3 + 2 415 c.276C>T c.(274-276)atC>atT p.I92I COPS4_uc010ijx.3_Silent_p.I92I NM_016129 NP_057213 Q9BT78 CSN4_HUMAN Homo sapiens COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis) (COPS4), mRNA. 92 cullin deneddylation cytoplasm|signalosome protein binding endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2) 13 Hepatocellular(203;0.114) TGGAAAAGATCCAGCCTAGAG 0.393000 44 21 0 0 0.00229938 0 0 GLI2 2736 broad.mit.edu 37 2 121732662 121732662 + Missense_Mutation SNP G A A rs13427953 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:121732662G>A uc010flp.3 + 7 1375 c.1345G>A c.(1345-1347)Gac>Aac p.D449N GLI2_uc002tmq.1_Missense_Mutation_p.D121N|GLI2_uc002tmr.1_Missense_Mutation_p.D104N|GLI2_uc002tmt.4_Missense_Mutation_p.D121N|GLI2_uc002tmu.4_Missense_Mutation_p.D104N|GLI2_uc010flo.1_Missense_Mutation_p.D307N|GLI2_uc002tmw.1_Missense_Mutation_p.D432N NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 449 D -> H (in dbSNP:rs13427953). 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) CAAGGAGTACGACACCCAGGA 0.592000 34 7 0 0 0.00307968 0 0 GHITM 27069 broad.mit.edu 37 10 85912039 85912039 + Missense_Mutation SNP G A A rs143660911 by1000genomes TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:85912039G>A uc001kcs.1 + 8 1177 c.973G>A c.(973-975)Gat>Aat p.D325N GHITM_uc010qma.1_Missense_Mutation_p.D256N|GHITM_uc010qmb.1_Missense_Mutation_p.D255N NM_014394 NP_055209 Q9H3K2 GHITM_HUMAN Homo sapiens growth hormone inducible transmembrane protein (GHITM), mRNA. 325 apoptosis integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2) 10 TATCTACATGGATACATTAAA 0.333000 18 14 0 0 0.00400662 0 0 FOXK1 221937 broad.mit.edu 37 7 4798970 4798970 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:4798970C>T uc003snc.1 + 6 1450 c.1440C>T c.(1438-1440)atC>atT p.I480I FOXK1_uc003sna.1_Silent_p.I317I NM_001037165 NP_001032242 P85037 FOXK1_HUMAN Homo sapiens forkhead box K1 (FOXK1), mRNA. 480 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) AGCCAGTGATCATGGCCGTGC 0.746000 10 7 0 0 0.000978159 0 0 TPTE 7179 broad.mit.edu 37 21 10916422 10916422 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:10916422G>A uc002yip.1 - 19 1592 c.1224C>T c.(1222-1224)ctC>ctT p.L408L TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Silent_p.L390L|TPTE_uc002yir.1_Silent_p.L370L|TPTE_uc010gkv.1_Silent_p.L270L NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 408 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R408H(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) GTCTTGGAGGGAGATTCCAGT 0.363000 137 10 0 0 0.000673444 0 0 SMARCA1 6594 broad.mit.edu 37 X 128605256 128605256 + Silent SNP T C C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:128605256T>C uc011muk.1 - 19 2603 c.2490A>G c.(2488-2490)gaA>gaG p.E830E SMARCA1_uc004eun.4_Silent_p.E830E|SMARCA1_uc004eup.4_Silent_p.E818E|SMARCA1_uc011mul.1_Silent_p.E818E NM_003069 NP_003060 P28370 SMCA1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA. 830 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 TTTTTTGCTCTTCTCTTTGAG 0.343000 40 57 0 0 0.00361006 0 0 FLNC 2318 broad.mit.edu 37 7 128478071 128478071 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:128478071C>T uc003vnz.4 + 5 1209 c.1000C>T c.(1000-1002)Cgc>Tgc p.R334C FLNC_uc003voa.4_Missense_Mutation_p.R334C NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 334 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGACAAGGATCGCACCTATGC 0.537000 45 29 0 0 0.00428921 0 0 ALG14 199857 broad.mit.edu 37 1 95538398 95538398 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:95538398G>A uc001dra.2 - 0 110 c.57C>T c.(55-57)atC>atT p.I19I NM_144988 NP_659425 Q96F25 ALG14_HUMAN Homo sapiens asparagine-linked glycosylation 14 homolog (S. cerevisiae) (ALG14), mRNA. 19 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|large_intestine(1)|lung(2)|pancreas(1) 6 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.0615)|Epithelial(280;0.139) ATATTCGCAGGATTAGGAAAA 0.587000 55 56 0 0 0.00361006 0 0 ANKIB1 54467 broad.mit.edu 37 7 91924316 91924316 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:91924316C>T uc003ulw.2 + 1 400 c.24C>T c.(22-24)ttC>ttT p.F8F NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA. 8 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CCACCAAATTCCGTAAAGCAC 0.388000 13 4 0 0 0.00024832 0 0 FHOD1 29109 broad.mit.edu 37 16 67265199 67265199 + Silent SNP C T T rs143498229 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:67265199C>T uc002esl.3 - 16 2671 c.2559G>A c.(2557-2559)acG>acA p.T853T FHOD1_uc010ced.3_Silent_p.T660T NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA. 853 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GTCGACGCACCGTGTCCTTCA 0.587000 25 15 0 0 0.000566183 0 0 TEKT1 83659 broad.mit.edu 37 17 6722553 6722553 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:6722553C>T uc002gdt.3 - 2 425 c.315G>A c.(313-315)ttG>ttA p.L105L TEKT1_uc010vth.2_Intron NM_053285 NP_444515 Q969V4 TEKT1_HUMAN Homo sapiens tektin 1 (TEKT1), mRNA. 105 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) AGGGCTCTTTCAAGGTCTCCA 0.438000 35 33 0 0 0.00428921 0 0 TSPAN9 10867 broad.mit.edu 37 12 3387672 3387672 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:3387672C>T uc001qlp.3 + 3 332 c.149C>T c.(148-150)tCg>tTg p.S50L TSPAN9_uc021qtd.1_Missense_Mutation_p.S50L NM_006675 NP_006666 O75954 TSN9_HUMAN Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA. 50 integral to plasma membrane|membrane fraction p.P49H(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831) AGCTTCCCTTCGTTGTCTGCA 0.592000 50 23 0 0 0.00229938 0 0 DAPK2 23604 broad.mit.edu 37 15 64218270 64218270 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:64218270G>A uc002amr.3 - 7 713 c.682C>T c.(682-684)Ctg>Ttg p.L228L DAPK2_uc010uim.2_Non-coding_Transcript NM_014326 NP_055141 Q9UIK4 DAPK2_HUMAN Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA. 228 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) GTGTCTCCCAGGAAAGGGGAT 0.502000 29 45 0 0 0.00361006 0 0 CXCR7 57007 broad.mit.edu 37 2 237489411 237489411 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:237489411G>A uc021vys.1 + 0 303 c.303G>A c.(301-303)gtG>gtA p.V101V CXCR7_uc010fyq.3_Silent_p.V101V|CXCR7_uc002vwd.3_Silent_p.V101V NM_020311 NP_064707 P25106 CXCR7_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA. 101 interspecies interaction between organisms integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(2)|skin(1) 4 Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223) Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118) CAGTCTGGGTGGTCAGTCTCG 0.552000 58 22 0 0 0.00332997 0 0 OR2B6 26212 broad.mit.edu 37 6 27925618 27925618 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:27925618C>T uc011dkx.2 + 0 600 c.600C>T c.(598-600)ttC>ttT p.F200F NM_012367 NP_036499 P58173 OR2B6_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA. 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CTGAACTATTCCTTGTCAGTG 0.438000 115 30 0 0 0.00178596 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004814 75004814 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:75004814C>T uc004ecj.2 - 0 266 c.73G>A c.(73-75)Gaa>Aaa p.E25K NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA. 25 autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCTTGTATTTCACCTCTGCCG 0.577000 9 8 0 0 0.000274275 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767828 77767828 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:77767828G>A uc003yau.2 + 9 9058 c.8671G>A c.(8671-8673)Gac>Aac p.D2891N ZFHX4_uc003yaw.1_Missense_Mutation_p.D2846N NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2846 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CATCACAGATGACCCGGATGA 0.493000 HNSCC(33;0.089) 41 11 0 0 0.00136819 0 0 EIF2B2 8892 broad.mit.edu 37 14 75475861 75475861 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:75475861A>T uc001xrc.2 + 7 1108 c.1026A>T c.(1024-1026)gaA>gaT p.E342D NM_014239 NP_055054 P49770 EI2BB_HUMAN Homo sapiens eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa (EIF2B2), mRNA. 342 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.00661) TGATGAGTGAACTCTACCATC 0.473000 63 48 0 0 0.00361006 0 0 PID1 55022 broad.mit.edu 37 2 230020561 230020561 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:230020561C>T uc002vpr.4 - 1 287 c.249G>A c.(247-249)atG>atA p.M83I PID1_uc002vps.4_Missense_Mutation_p.M81I|PID1_uc002vpt.4_Missense_Mutation_p.M50I|PID1_uc002vpu.4_Intron NM_001100818 NP_001094288 Q7Z2X4 PCLI1_HUMAN Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA. 83 cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) TCCTTGTCTTCATCAGCGGTG 0.522000 54 21 0 0 0.00395357 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42279469 42279469 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:42279469G>A uc021sjp.1 - 16 1936 c.1936C>T c.(1936-1938)Ctt>Ttt p.L646F PLA2G4E_uc010udc.2_Missense_Mutation_p.L89F|PLA2G4E_uc001zov.2_Missense_Mutation_p.L270F NM_001206670 NP_001193599 Q3MJ16 PA24E_HUMAN Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA. 634 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) CGATGGGTAAGGATTTCTCGG 0.527000 9 17 0 0 0.000566183 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110476758 110476758 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:110476758A>G uc003yne.3 + 48 7801 c.7697A>G c.(7696-7698)aAc>aGc p.N2566S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 2566 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGGGTCACCAACCCGAACAAT 0.478000 HNSCC(38;0.096) 43 9 0 0 0.000442599 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759211 121759211 + Missense_Mutation SNP A T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:121759211A>T uc003ksw.1 + 3 985 c.779A>T c.(778-780)aAc>aTc p.N260I SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.N260I|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.N307I|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.N260I NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 260 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GACTTCCTAAACAAGACATTT 0.473000 28 12 0 0 0.000978159 0 0 OR13C3 138803 broad.mit.edu 37 9 107298917 107298917 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:107298917G>A uc004bcb.1 - 0 178 c.178C>T c.(178-180)Ctc>Ttc p.L60F NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA. 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 ACTAGAATGAGAGCAAAGTAA 0.383000 40 26 0 0 0.00209593 0 0 ACP2 53 broad.mit.edu 37 11 47270236 47270236 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:47270236G>A uc001nei.3 - 0 222 c.105C>T c.(103-105)ttC>ttT p.F35F ACP2_uc010rhe.2_5'Flank|ACP2_uc009ylj.3_5'UTR|ACP2_uc010rhf.2_Silent_p.F35F|ACP2_uc010rhg.2_Silent_p.F35F|ACP2_uc010rhh.2_5'UTR|ACP2_uc009ylk.2_Silent_p.F35F|ACP2_uc010rhi.1_5'UTR|ACP2_uc010rhj.1_Silent_p.F35F|NR1H3_uc010rhk.2_5'UTR|NR1H3_uc009yll.2_5'UTR|NR1H3_uc001nek.3_5'Flank NM_001610 NP_001601 P11117 PPAL_HUMAN Homo sapiens acid phosphatase 2, lysosomal (ACP2), transcript variant 1, mRNA. 35 integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 CCAAGGTAACGAAGCGCAGAC 0.632000 14 5 0 0 0.00198382 0 0 MLL5 55904 broad.mit.edu 37 7 104722179 104722179 + Nonsense_Mutation SNP T A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:104722179T>A uc003vcm.3 + 12 1827 c.1293T>A c.(1291-1293)taT>taA p.Y431* MLL5_uc010lja.1_Nonsense_Mutation_p.Y285*|MLL5_uc010ljb.1_Nonsense_Mutation_p.Y431*|MLL5_uc003vcl.3_Nonsense_Mutation_p.Y431*|MLL5_uc010ljc.3_Nonsense_Mutation_p.Y431*|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_Nonsense_Mutation_p.Y69* NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA. 431 SET. DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 63 TTTATATTTATTCTATACACA 0.303000 93 45 0 0 0.00361006 0 0 MXRA5 25878 broad.mit.edu 37 X 3241590 3241590 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:3241590C>T uc004crg.4 - 4 2293 c.2136G>A c.(2134-2136)agG>agA p.R712R NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 712 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCAGAAGTCTCCTTGAAGTGT 0.502000 13 27 0 0 0.00106085 0 0 AFF1 4299 broad.mit.edu 37 4 88055746 88055746 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:88055746C>T uc011ccz.2 + 19 3710 c.3435C>T c.(3433-3435)acC>acT p.T1145T AFF1_uc003hqj.4_Silent_p.T1137T|AFF1_uc003hqk.4_Silent_p.T1138T|AFF1_uc011cda.2_Silent_p.T776T NM_001166693 NP_001160165 P51825 AFF1_HUMAN Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA. 1137 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CCCCAGTCACCATCCAGAATA 0.552000 106 50 0 0 0.00361006 0 0 NOS1 4842 broad.mit.edu 37 12 117696204 117696204 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:117696204C>T uc001twn.2 - 15 3240 c.2529G>A c.(2527-2529)agG>agA p.R843R NOS1_uc021ren.1_Silent_p.R507R|NOS1_uc021reo.1_Silent_p.R507R|NOS1_uc001twm.2_Silent_p.R843R NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 843 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TCACTTACTTCCTTTCTTCCT 0.493000 39 17 0 0 0.000958276 0 0 CLCN1 1180 broad.mit.edu 37 7 143017764 143017764 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:143017764C>T uc003wcr.1 + 2 396 c.309C>T c.(307-309)atC>atT p.I103I CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_5'Flank|CLCN1_uc010lox.1_5'Flank|CLCN1_uc010loy.1_5'Flank NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 103 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TAGATTGTATCCACCGCCTGG 0.438000 37 12 0 0 0.00136819 0 0 HSPA1L 3305 broad.mit.edu 37 6 31778985 31778985 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:31778985G>A uc003nxh.3 - 1 948 c.765C>T c.(763-765)atC>atT p.I255I HSPA1L_uc010jte.3_Silent_p.I255I|HSPA1L_uc021yuz.1_Silent_p.I255I NM_005527 NP_005518 P34931 HS71L_HUMAN Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA. 255 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 TGTTCTGGCTGATGTCCTTTT 0.587000 286 274 0 0 0.00361006 0 0 SELP 6403 broad.mit.edu 37 1 169582930 169582930 + Splice_Site SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:169582930G>A uc001ggi.4 - 4 547 c.482_splice c.e4-1 p.A161_splice SELP_uc001ggh.3_Splice_Site|SELP_uc009wvr.3_Splice_Site_p.A161_splice NM_003005 NP_002996 P16109 LYAM3_HUMAN Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA. 161 EGF-like. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CCTGGCAGGAGGCTGCATAGA 0.507000 25 19 0 0 0.000958276 0 0 PCLO 27445 broad.mit.edu 37 7 82581416 82581416 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:82581416C>T uc003uhx.2 - 4 9142 c.8853G>A c.(8851-8853)agG>agA p.R2951R PCLO_uc003uhv.2_Silent_p.R2951R|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2882 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 CTGTGCAGCTCCTTCCAAATG 0.433000 78 42 0 0 0.00148497 0 0 TMEM119 338773 broad.mit.edu 37 12 108985675 108985675 + Missense_Mutation SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:108985675G>A uc001tng.3 - 1 648 c.485C>T c.(484-486)cCc>cTc p.P162L TMEM119_uc021rdl.1_Missense_Mutation_p.P162L NM_181724 NP_859075 Q4V9L6 TM119_HUMAN Homo sapiens transmembrane protein 119 (TMEM119), mRNA. 162 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 GGCTTCCTCGGGCCTGCTGTC 0.692000 14 8 0 0 0.000978159 0 0 MACF1 23499 broad.mit.edu 37 1 39901420 39901420 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:39901420C>T uc021olw.1 + 33 13295 c.13295C>T c.(13294-13296)tCc>tTc p.S4432F MACF1_uc021ols.1_Missense_Mutation_p.S3930F|MACF1_uc001cdc.2_Missense_Mutation_p.S3800F|MACF1_uc021olt.1_Missense_Mutation_p.S3930F|MACF1_uc001cda.1_Missense_Mutation_p.S3817F NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 6004 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAAGCCGTGTCCCAGTCCACA 0.483000 41 39 0 0 0.00195071 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76569483 76569483 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:76569483C>T uc002fex.1 + 16 2945 c.2806C>T c.(2806-2808)Cgg>Tgg p.R936W CNTNAP4_uc002feu.1_Missense_Mutation_p.R932W|CNTNAP4_uc002fev.1_Missense_Mutation_p.R797W|CNTNAP4_uc010chb.1_Missense_Mutation_p.R860W NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 933 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GGGCTGCATTCGGTCTCTGCA 0.493000 38 22 0 0 0.00332997 0 0 DYNLRB2 83657 broad.mit.edu 37 16 80583473 80583473 + Missense_Mutation SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:80583473C>T uc002ffo.3 + 2 292 c.172C>T c.(172-174)Cgt>Tgt p.R58C DYNLRB2_uc002ffp.3_Non-coding_Transcript|DYNLRB2_uc002ffq.3_Non-coding_Transcript NM_130897 NP_570967 Q8TF09 DLRB2_HUMAN Homo sapiens dynein, light chain, roadblock-type 2 (DYNLRB2), mRNA. 58 microtubule-based movement|transport cytoplasmic dynein complex|microtubule microtubule motor activity large_intestine(1)|lung(4)|prostate(1) 6 AAGCACAGTTCGTGATATTGA 0.403000 26 9 0 0 0.000442599 0 0 DDX43 55510 broad.mit.edu 37 6 74115448 74115448 + Missense_Mutation SNP A G G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:74115448A>G uc003pgw.3 + 5 1041 c.697A>G c.(697-699)Aaa>Gaa p.K233E DDX43_uc011dyn.1_Non-coding_Transcript NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA. 233 intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 GGATGGGGAGAAACGACCTAT 0.393000 24 6 0 0 0.00198382 0 0 CEP70 80321 broad.mit.edu 37 3 138219316 138219317 + Silent DNP GG TT TT TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:138219316_138219317GG>TT uc003esl.3 - 14 1659_1660 c.1461_1462CC>AA c.(1459-1464)ccccga>ccAAga p.487_488PR>PR CEP70_uc011bmk.2_Silent_p.467_468PR>PR|CEP70_uc011bml.2_Silent_p.469_470PR>PR|CEP70_uc011bmm.2_Silent_p.335_336PR>PR|CEP70_uc003esm.3_Silent_p.487_488PR>PR NM_024491 NP_077817 Q8NHQ1 CEP70_HUMAN Homo sapiens centrosomal protein 70kDa (CEP70), mRNA. 487 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding p.R488R(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 TCATTCATTCGGGGATAGACTC 0.376000 586 14 0 0 6.4e-05 0 0 HEPH 9843 broad.mit.edu 37 X 65413365 65413365 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:65413365G>A uc011moz.2 + 7 1553 c.1416G>A c.(1414-1416)caG>caA p.Q472Q HEPH_uc004dwn.3_Silent_p.Q421Q|HEPH_uc004dwo.3_Silent_p.Q151Q|HEPH_uc010nkr.3_Silent_p.Q421Q|HEPH_uc011mpa.2_Silent_p.Q421Q NM_138737 NP_055614 Q9BQS7 HEPH_HUMAN Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA. 418 Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 AGTTTTTCCAGAAGAGCTCCA 0.398000 12 6 0 0 0.00307968 0 0 CHAT 1103 broad.mit.edu 37 10 50828588 50828588 + Silent SNP C T T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:50828588C>T uc001jhz.2 + 3 780 c.627C>T c.(625-627)gcC>gcT p.A209A CHAT_uc001jhv.1_Silent_p.A91A|CHAT_uc001jhx.1_Silent_p.A91A|CHAT_uc001jhy.1_Silent_p.A91A|CHAT_uc001jia.2_Silent_p.A127A|CHAT_uc010qgs.1_Silent_p.A91A NM_020549 NP_066266 P28329 CLAT_HUMAN Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA. 209 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) ACCGCCTGGCCCTGCCTGTCA 0.602000 23 22 0 0 0.00152264 0 0 SMYD3 64754 broad.mit.edu 37 1 246078853 246078853 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:246078853G>A uc001ibl.3 - 7 917 c.792C>T c.(790-792)ttC>ttT p.F264F SMYD3_uc001ibk.3_Silent_p.F205F|SMYD3_uc001ibj.3_Silent_p.F75F NM_001167740 NP_073580 Q9H7B4 SMYD3_HUMAN Homo sapiens SET and MYND domain containing 3 (SMYD3), transcript variant 1, mRNA. 264 cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding breast(3)|large_intestine(5)|lung(8)|skin(1) 17 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) TTTGGCAACGGAAACAGTCAC 0.498000 57 19 0 0 0.00121646 0 0 FAT4 79633 broad.mit.edu 37 4 126411357 126411357 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:126411357G>A uc003ifj.4 + 16 13380 c.13380G>A c.(13378-13380)agG>agA p.R4460R FAT4_uc011cgp.2_Silent_p.R2701R|FAT4_uc003ifi.1_Silent_p.R1937R NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 4460 EGF-like 6. 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 ACACGGGAAGGACCTGTGAGA 0.627000 36 17 0 0 0.00400662 0 0 ZNF346 23567 broad.mit.edu 37 5 176471497 176471497 + Silent SNP G A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:176471497G>A uc003mfk.1 + 4 598 c.555G>A c.(553-555)aaG>aaA p.K185K ZNF346_uc003mfi.3_Silent_p.K160K|ZNF346_uc011dfr.2_Silent_p.K128K|ZNF346_uc011dfs.2_Intron|ZNF346_uc011dft.1_Intron NM_012279 NP_036411 Q9UL40 ZN346_HUMAN Homo sapiens zinc finger protein 346 (ZNF346), mRNA. 160 cytoplasm|nucleolus double-stranded RNA binding|zinc ion binding p.D184Y(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 14 all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) 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) CCCACGCAAAGAACTTAAAGC 0.547000 75 21 0 0 0.00332997 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151204160 151204160 + Frame_Shift_Del DEL C - - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:151204160delC uc001exj.3 + 4 703 c.251delC c.(250-252)gccfs p.A84fs PIP5K1A_uc021oyo.1_Frame_Shift_Del_p.A72fs|PIP5K1A_uc001exi.3_Frame_Shift_Del_p.A71fs|PIP5K1A_uc010pcu.2_Frame_Shift_Del_p.A72fs|PIP5K1A_uc001exk.3_Frame_Shift_Del_p.A71fs|PIP5K1A_uc010pcv.2_5'Flank NM_001135638 NP_001129110 Q99755 PI51A_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA. 84 PIPK. phospholipid biosynthetic process|signal transduction Golgi stack|endomembrane system|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1) 5 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;0.181) ACCTCATCAGCCTTGAAAGGT 0.433 --- 63 --- --- 22 --- CEP350 9857 broad.mit.edu 37 1 179983057 179983065 + In_Frame_Del DEL GTTCGAGAA - - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:179983057_179983065delGTTCGAGAA uc001gnt.3 + 9 1852_1860 c.1469_1477delGTTCGAGAA c.(1468-1479)cgttcgagaagt>cgt p.SRS491del CEP350_uc009wxl.2_In_Frame_Del_p.SRS490del|CEP350_uc001gnu.3_In_Frame_Del_p.SRS325del NM_014810 NP_055625 Q5VT06 CE350_HUMAN Homo sapiens centrosomal protein 350kDa (CEP350), mRNA. 491 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 AACTCAGAACGTTCGAGAAGTAAATCTCG 0.373 --- 71 --- --- 22 --- TTN 7273 broad.mit.edu 37 2 179439386 179439393 + Frame_Shift_Del DEL TAAATGGA - - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179439386_179439393delTAAATGGA uc021vsy.1 - 274 63987_63994 c.63762_63769delTCCATTTA c.(63760-63771)tatccatttaagfs p.Y21254fs MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.Y14949fs|TTN_uc021vta.1_Frame_Shift_Del_p.Y14882fs|TTN_uc021vtb.1_Frame_Shift_Del_p.Y14757fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 22181 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) CCAGGAACCTTAAATGGATAGTTGGCAA 0.471 --- 56 --- --- 16 --- SLC25A2 83884 broad.mit.edu 37 5 140682838 140682839 + Frame_Shift_Ins INS - A A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140682838_140682839insA uc003ljf.3 - 0 774_775 c.594_595insT c.(592-597)tttgcgfs p.F198fs NM_031947 NP_114153 Q9BXI2 ORNT2_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA. 198 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity p.A199V(1) breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) CTCCCTGACGCAAAAAACGATC 0.475 --- 100 --- --- 31 --- FKBPL 63943 broad.mit.edu 37 6 32097086 32097086 + Frame_Shift_Del DEL C - - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32097086delC uc003nzr.3 - 1 742 c.472delG c.(472-474)gagfs p.E158fs ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Frame_Shift_Del_p.E158fs NM_022110 NP_071393 Q9UIM3 FKBPL_HUMAN Homo sapiens FK506 binding protein like (FKBPL), mRNA. 158 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity TCTATGAGCTCCCCCCAAGTT 0.587 --- 776 --- --- 7 --- B2M 567 broad.mit.edu 37 15 45003781 45003784 + Frame_Shift_Del DEL CTCT - - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:45003781_45003784delCTCT uc001zuc.3 + 0 97_100 c.37_40delCTCT c.(37-42)ctctctfs p.L13fs B2M_uc010uek.1_Frame_Shift_Del_p.L13fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L13fs NM_004048 NP_004039 P61769 B2MG_HUMAN Homo sapiens beta-2-microglobulin (B2M), mRNA. 13 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction Golgi membrane|MHC class I protein complex|early endosome membrane protein binding p.L15fs*41(4)|p.L13F(2)|p.L12Q(1)|p.A11fs*42(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) GCTCGCGCTACTCTCTCTTTCTGG 0.613 --- 29 --- --- 18 --- WFIKKN1 117166 broad.mit.edu 37 16 683416 683416 + Frame_Shift_Del DEL G - - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:683416delG uc002cht.1 + 1 1248 c.1006delG c.(1006-1008)gggfs p.G336fs AK128777_uc002chs.1_3'UTR NM_053284 NP_444514 Q96NZ8 WFKN1_HUMAN Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 (WFIKKN1), mRNA. 336 BPTI/Kunitz inhibitor 1. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1) 4 Hepatocellular(780;0.00335) TGGCTGTGATGGGGCGGCCCG 0.736 --- 4 --- --- 2 --- EFTUD2 9343 broad.mit.edu 37 17 42932017 42932017 + Frame_Shift_Del DEL G - - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:42932017delG uc002ihn.2 - 21 2427 c.2166delC c.(2164-2166)tacfs p.Y722fs EFTUD2_uc010wje.1_Frame_Shift_Del_p.Y687fs|EFTUD2_uc010wjf.1_Frame_Shift_Del_p.Y712fs NM_004247 NP_001136077 Q15029 U5S1_HUMAN Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA. 722 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) GATCCCAATCGTACTTGGTCT 0.572 --- 56 --- --- 40 --- TP53INP2 58476 broad.mit.edu 37 20 33296571 33296571 + Frame_Shift_Del DEL T - - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:33296571delT uc002xau.1 + 2 363 c.28delT c.(28-30)ttcfs p.F10fs TP53INP2_uc021wcc.1_5'Flank NM_021202 NP_067025 Q8IXH6 T53I2_HUMAN Homo sapiens tumor protein p53 inducible nuclear protein 2 (TP53INP2), mRNA. 10 nucleus endometrium(1)|urinary_tract(1) 2 CAGCCTCTTCTTCAGCACCCC 0.652 --- 4 --- --- 2 --- AP1S2 8905 broad.mit.edu 37 X 15845465 15845465 + Frame_Shift_Del DEL C - - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:15845465delC uc010nex.3 - 5 756 c.592delG c.(592-594)gaafs p.E198fs AP1S2_uc004cxh.3_3'UTR|AP1S2_uc004cxi.3_Frame_Shift_Del_p.E153fs NM_003916 NP_003907 P56377 AP1S2_HUMAN Homo sapiens adaptor-related protein complex 1, sigma 2 subunit (AP1S2), mRNA. 153 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction AP-type membrane coat adaptor complex|Golgi membrane|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane protein transporter activity large_intestine(1) 1 Hepatocellular(33;0.183) AGTCCAATTTCTTCAAGAACA 0.453 --- 28 --- --- 55 ---