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 FOXF1 2294 broad.mit.edu 37 16 86546577 86546578 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr16:86546577_86546578GG>AA uc002fjl.3 + 1 1069_1070 c.1026_1027GG>AA c.(1024-1029)aaggag>aaAAag p.E343K NM_001451 NP_001442 Q12946 FOXF1_HUMAN Homo sapiens forkhead box F1 (FOXF1), mRNA. 343 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel 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 factor binding p.Q342Q(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 12 GTGACCGAAAGGAGTTTGTCTT 0.609000 69 10 0 0 0.004672 0 0 BCOR 54880 broad.mit.edu 37 X 39932522 39932522 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:39932522G>A uc004den.4 - 3 2369 c.2077C>T c.(2077-2079)Cct>Tct p.P693S BCOR_uc004dep.4_Missense_Mutation_p.P693S|BCOR_uc004deo.4_Missense_Mutation_p.P693S|BCOR_uc004dem.4_Missense_Mutation_p.P693S|BCOR_uc004deq.4_Missense_Mutation_p.P693S NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA. 693 Pro-rich. heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 AGGTGCCCAGGAAACAGACTG 0.582000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 42 6 0 0 0.001168 0 0 IL10RA 3587 broad.mit.edu 37 11 117869672 117869672 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:117869672G>A uc001prv.3 + 6 1130 c.1053G>A c.(1051-1053)agG>agA p.R351R IL10RA_uc010rxl.2_Silent_p.R331R|IL10RA_uc010rxm.2_Silent_p.R331R|IL10RA_uc010rxn.2_Silent_p.R202R|IL10RA_uc001prw.3_Silent_p.R202R NM_001558 NP_001549 Q13651 I10R1_HUMAN Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA. 351 R -> G (in dbSNP:rs2229113). integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) TGGGAAACAGGGAGCCCCCTG 0.642000 50 11 0 0 0.000978 0 0 TKTL2 84076 broad.mit.edu 37 4 164393616 164393616 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:164393616G>A uc003iqp.4 - 0 1432 c.1271C>T c.(1270-1272)tCc>tTc p.S424F NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN Homo sapiens transketolase-like 2 (TKTL2), mRNA. 424 cytoplasm metal ion binding|transketolase activity p.V423I(1) 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) TTCTCCAGTGGATACCCCACA 0.483000 66 9 0 0 0.004482 0 0 ZBTB9 221504 broad.mit.edu 37 6 33423956 33423956 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr6:33423956C>T uc003oeq.3 + 1 1347 c.1079C>T c.(1078-1080)cCt>cTt p.P360L ZBTB9_uc021ywp.1_Missense_Mutation_p.P360L NM_152735 NP_689948 Q96C00 ZBTB9_HUMAN Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA. 360 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 GGTGGAGGACCTGGGGGAGCA 0.607000 40 6 0 0 0.001168 0 0 RUVBL2 10856 broad.mit.edu 37 19 49514511 49514512 + Silent DNP CC TT TT TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:49514511_49514512CC>TT uc002plr.1 + 10 958_959 c.945_946CC>TT c.(943-948)gccctg>gcTTtg p.315_316AL>AL RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Silent_p.270_271AL>AL NM_006666 NP_006657 Q9Y230 RUVB2_HUMAN Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA. 315 DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) TCAACCGGGCCCTGGAGAGTGA 0.614000 57 16 0 0 0.004672 0 0 COPG2 26958 broad.mit.edu 37 7 130295862 130295862 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:130295862G>A uc003vqh.1 - 8 789 c.699C>T c.(697-699)atC>atT p.I233I NM_012133 NP_036265 Q9UBF2 COPG2_HUMAN Homo sapiens coatomer protein complex, subunit gamma 2 (COPG2), mRNA. 233 intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat protein binding|structural molecule activity large_intestine(1) 1 Melanoma(18;0.0435) TGGCAATTCGGATCAGCATGC 0.383000 178 47 0 0 0.003610 0 0 ABCA12 26154 broad.mit.edu 37 2 215884507 215884507 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:215884507C>T uc002vew.3 - 11 1521 c.1301G>A c.(1300-1302)cGa>cAa p.R434Q ABCA12_uc002vev.3_Missense_Mutation_p.R116Q|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. 434 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GGTCAAGTTTCGAAGTTGAGA 0.363000 26 4 0 0 0.000602 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48603480 48603480 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:48603480G>A uc010wmr.2 + 13 2312 c.2150G>A c.(2149-2151)aGa>aAa p.R717K MYCBPAP_uc002iqz.3_Non-coding_Transcript NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Homo sapiens MYCBP associated protein (MYCBPAP), mRNA. 680 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) CAGAAGGCCAGAGTGGGGACC 0.602000 88 24 0 0 0.002299 0 0 ARAP2 116984 broad.mit.edu 37 4 36069761 36069761 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:36069761C>T uc003gsq.2 - 32 5221 c.4883G>A c.(4882-4884)cGa>cAa p.R1628Q ARAP2_uc003gso.3_Intron NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA. 1628 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 CCGATGTTTTCGGGGTCGATT 0.507000 17 4 0 0 0.000248 0 0 EP300 2033 broad.mit.edu 37 22 41573197 41573197 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr22:41573197C>T uc003azl.4 + 30 5877 c.5482C>T c.(5482-5484)Ctt>Ttt p.L1828F NM_001429 NP_001420 Q09472 EP300_HUMAN Homo sapiens E1A binding protein p300 (EP300), mRNA. 1828 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GGCCCAAATGCTTCGCAGGAG 0.612000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 51 17 0 0 0.004990 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959992 45959992 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr21:45959992G>A uc002zfh.1 - 0 87 c.42C>T c.(40-42)tcC>tcT p.S14S TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198691 NP_941964 P60331 KR101_HUMAN Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA. 14 keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 GCCAGGAGTCGGAGCAAGCGC 0.682000 113 24 0 0 0.005443 0 0 PRKCB 5579 broad.mit.edu 37 16 23847548 23847548 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr16:23847548G>A uc002dmd.3 + 0 249 c.52G>A c.(52-54)Gtg>Atg p.V18M PRKCB_uc002dme.3_Missense_Mutation_p.V18M NM_212535 NP_997700 P05771 KPCB_HUMAN Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA. 18 B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GGAGAGCACCGTGCGCTTCGC 0.711000 50 8 0 0 0.003080 0 0 GRIPAP1 56850 broad.mit.edu 37 X 48840277 48840277 + Silent SNP T C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:48840277T>C uc004dly.1 - 14 1217 c.1182A>G c.(1180-1182)tcA>tcG p.S394S GRIPAP1_uc004dlz.3_Silent_p.S284S|GRIPAP1_uc004dma.3_Silent_p.S341S NM_020137 NP_064522 Q4V328 GRAP1_HUMAN Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA. 394 early endosome breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2) 10 TGGCCCGTAATGACTCCTAAT 0.507000 101 11 0 0 0.000673 0 0 RALGAPB 57148 broad.mit.edu 37 20 37150215 37150215 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr20:37150215C>T uc002xiw.3 + 9 1750 c.1493C>T c.(1492-1494)cCt>cTt p.P498L RALGAPB_uc010zvz.1_Intron|RALGAPB_uc002xix.3_Missense_Mutation_p.P498L|RALGAPB_uc002xiy.1_Missense_Mutation_p.P498L|RALGAPB_uc002xiz.3_Missense_Mutation_p.P276L|RALGAPB_uc002xja.1_Missense_Mutation_p.P225L NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA. 498 activation of Ral GTPase activity intracellular Ral GTPase activator activity|protein heterodimerization activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 GTTTCCAATCCTATGTTTGAT 0.443000 54 6 0 0 0.001168 0 0 IGH 0 broad.mit.edu 37 16 32077387 32077387 + Splice_Site SNP A G G TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr16:32077387A>G uc010vft.2 + 1 c.1_splice c.e1-1 VHDJH_uc010vfu.2_5'Flank Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:aims0155h. GCCCAGTGTGAGGTGCAGCTG 0.537000 100 20 0 0 0.001216 0 0 OR52B6 340980 broad.mit.edu 37 11 5602787 5602787 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:5602787C>T uc010qzi.2 + 0 681 c.681C>T c.(679-681)ggC>ggT p.G227G HBG1_uc001mak.1_Intron NM_001005162 NP_001005162 Q8NGF0 O52B6_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA. 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTCCACAGGCCTAGACATCA 0.507000 203 35 0 0 0.003755 0 0 MUC16 94025 broad.mit.edu 37 19 9087174 9087174 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:9087174C>T uc002mkp.3 - 0 4845 c.4641G>A c.(4639-4641)gtG>gtA p.V1547V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1547 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 AGTGTTCAATCACACTGGTCC 0.488000 78 8 0 0 0.004482 0 0 CENPB 1059 broad.mit.edu 37 20 3766206 3766206 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr20:3766206G>A uc002wjk.3 - 0 1132 c.925C>T c.(925-927)Ctg>Ttg p.L309L CDC25B_uc010zqk.2_5'Flank|CDC25B_uc010zql.2_5'Flank|CDC25B_uc010zqm.2_5'Flank NM_001810 NP_001801 P07199 CENPB_HUMAN Homo sapiens centromere protein B, 80kDa (CENPB), mRNA. 309 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 ACATGCCGCAGGCCCGAGGTG 0.662000 20 3 0 0 0.000248 0 0 ASXL3 80816 broad.mit.edu 37 18 31323465 31323465 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr18:31323465C>T uc010dmg.1 + 11 3708 c.3653C>T c.(3652-3654)tCa>tTa p.S1218L ASXL3_uc002kxq.2_Missense_Mutation_p.S925L NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1218 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 AAAATTGTTTCATCTACCTCT 0.373000 52 13 0 0 0.001855 0 0 RRP8 23378 broad.mit.edu 37 11 6623248 6623248 + Missense_Mutation SNP C A A rs140361064 TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:6623248C>A uc001med.3 - 1 445 c.297G>T c.(295-297)caG>caT p.Q99H ILK_uc001mee.3_5'Flank|ILK_uc001mef.3_5'Flank|ILK_uc010rap.2_5'Flank|ILK_uc010raq.2_5'Flank|ILK_uc001meh.3_5'Flank NM_015324 NP_056139 O43159 RRP8_HUMAN Homo sapiens ribosomal RNA processing 8, methyltransferase, homolog (yeast) (RRP8), mRNA. 99 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin S-adenosylmethionine-dependent methyltransferase activity|methylated histone residue binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2) 13 AAGGTGGGCCCTGTTTTTGAC 0.463000 92 12 6.40141e-05 8.57815e-05 0.000978 1 0 CCDC33 80125 broad.mit.edu 37 15 74627341 74627341 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr15:74627341G>A uc002axo.3 + 17 2445 c.2051G>A c.(2050-2052)gGa>gAa p.G684E CCDC33_uc002axp.3_Missense_Mutation_p.G540E|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Missense_Mutation_p.G311E|CCDC33_uc002axr.3_Missense_Mutation_p.G277E NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA. 887 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CGACGCTGGGGACGAGAGAAG 0.577000 78 9 0 0 0.000978 0 0 ALDH4A1 8659 broad.mit.edu 37 1 19200962 19200962 + Missense_Mutation SNP G C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:19200962G>C uc001bbb.3 - 13 1850 c.1574C>G c.(1573-1575)gCc>gGc p.A525G ALDH4A1_uc010ocu.2_Missense_Mutation_p.A465G|ALDH4A1_uc001bbc.3_Missense_Mutation_p.A525G|ALDH4A1_uc021ohl.1_Missense_Mutation_p.A474G NM_170726 NP_001154976 P30038 AL4A1_HUMAN Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA. 525 RAS -> GSA (in Ref. 9; AA sequence). proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) CTCACCAGAGGCTCGGGCCCC 0.592000 97 19 0 0 0.001523 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G T T rs121913254 TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K 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.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(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) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 157 72 4.01556e-35 5.46905e-35 0.003610 1 0 PTGFR 5737 broad.mit.edu 37 1 78958820 78958820 + Missense_Mutation SNP T A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:78958820T>A uc001din.3 + 1 658 c.392T>A c.(391-393)aTt>aAt p.I131N PTGFR_uc001dim.3_Missense_Mutation_p.I131N NM_000959 NP_000950 P43088 PF2R_HUMAN Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA. 131 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity 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) GTGATGGCCATTGAGCGGTGT 0.408000 109 16 0 0 0.003163 0 0 D2HGDH 728294 broad.mit.edu 37 2 242684288 242684288 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:242684288C>T uc002wce.1 + 5 1022 c.849C>T c.(847-849)ttC>ttT p.F283F D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Silent_p.F149F|D2HGDH_uc002wcg.1_Non-coding_Transcript NM_152783 NP_689996 Q8N465 D2HDH_HUMAN Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA. 283 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) ACGTGGCTTTCCTCGGTGGGC 0.597000 186 26 0 0 0.004656 0 0 TSPYL6 388951 broad.mit.edu 37 2 54482630 54482630 + Missense_Mutation SNP T A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:54482630T>A uc002rxr.2 - 0 780 c.659A>T c.(658-660)gAc>gTc p.D220V ACYP2_uc002rxq.4_Intron NM_001003937 NP_001003937 Q8N831 TSYL6_HUMAN Homo sapiens TSPY-like 6 (TSPYL6), mRNA. 220 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 GAGCGCCCTGTCAGCCTCTGC 0.622000 77 6 0 0 0.001168 0 0 PCYOX1 51449 broad.mit.edu 37 2 70503997 70503997 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:70503997C>T uc002sgn.4 + 5 1057 c.991C>T c.(991-993)Cct>Tct p.P331S PCYOX1_uc010fdo.3_Missense_Mutation_p.P254S|PCYOX1_uc010yqu.2_Missense_Mutation_p.P313S NM_016297 NP_057381 Q9UHG3 PCYOX_HUMAN Homo sapiens prenylcysteine oxidase 1 (PCYOX1), mRNA. 331 prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6) 15 CAACTTTGATCCTCCAATTGA 0.368000 38 4 0 0 0.000602 0 0 DNAH17 8632 broad.mit.edu 37 17 76548857 76548857 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:76548857G>A uc010dhp.2 - 14 2334 c.2209C>T c.(2209-2211)Cta>Tta p.L737L DNAH17_uc002jvv.2_Silent_p.L439L 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) TTTATTAGTAGAAATTCTACT 0.413000 186 27 0 0 0.002096 0 0 MYO3A 53904 broad.mit.edu 37 10 26359144 26359144 + Splice_Site SNP G A A rs77562287 byFrequency TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr10:26359144G>A uc001isn.2 + 13 1635 c.1275_splice c.e13+1 p.Q425_splice MYO3A_uc009xko.1_Splice_Site_p.Q425_splice|MYO3A_uc009xkp.1_Splice_Site|MYO3A_uc009xkq.1_Splice_Site_p.Q425_splice NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 425 Myosin head-like. 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 ATTCAGATCAGGTAAGAAGAG 0.333000 34 11 0 0 0.000673 0 0 NEB 4703 broad.mit.edu 37 2 152534274 152534274 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:152534274C>T uc021vrb.1 - 31 3608 c.3579G>A c.(3577-3579)aaG>aaA p.K1193K NEB_uc002txu.3_Silent_p.K1193K|NEB_uc021vrc.1_Silent_p.K1193K|NEB_uc010fnx.3_Silent_p.K1193K|NEB_uc021vrd.1_Silent_p.K1193K NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 1193 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) TGTAGTCTTCCTTGTAGACGT 0.458000 149 15 0 0 0.004990 0 0 IGF2R 3482 broad.mit.edu 37 6 160517543 160517543 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr6:160517543C>T uc003qta.3 + 44 6876 c.6728C>T c.(6727-6729)aCc>aTc p.T2243I NM_000876 NP_000867 P11717 MPRI_HUMAN Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA. 2243 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GTTTCTTCCACCATCTTCTTC 0.547000 139 18 0 0 0.007413 0 0 KIAA0947 23379 broad.mit.edu 37 5 5461342 5461342 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:5461342C>T uc003jdm.4 + 12 2117 c.1895C>T c.(1894-1896)tCc>tTc p.S632F NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN Homo sapiens KIAA0947 (KIAA0947), mRNA. 632 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 AGTTTTTCTTCCTCTTCTACC 0.413000 70 13 0 0 0.001855 0 0 MYO9B 4650 broad.mit.edu 37 19 17283623 17283623 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:17283623G>A uc010eak.3 + 12 2143 c.1991G>A c.(1990-1992)cGg>cAg p.R664Q MYO9B_uc002nfi.3_Missense_Mutation_p.R664Q|MYO9B_uc002nfj.1_Missense_Mutation_p.R664Q NM_004145 NP_004136 Q13459 MYO9B_HUMAN Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA. 664 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GCCCTGCTGCGGGGCAGTGAC 0.657000 123 20 0 0 0.001523 0 0 LRTM1 57408 broad.mit.edu 37 3 54952852 54952852 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:54952852G>A uc003dhl.3 - 2 806 c.672C>T c.(670-672)atC>atT p.I224I CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA. 224 LRRCT. integral to membrane p.I224I(2) breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) GCTCATGAGGGATCCTAAGGA 0.542000 28 6 0 0 0.004482 0 0 AATF 26574 broad.mit.edu 37 17 35346599 35346600 + Missense_Mutation DNP GG TA TA TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:35346599_35346600GG>TA uc002hni.3 + 6 1454_1455 c.1203_1204GG>TA c.(1201-1206)atggac>atTAac p.401_402MD>IN NM_012138 NP_036270 Q9NY61 AATF_HUMAN Homo sapiens apoptosis antagonizing transcription factor (AATF), mRNA. 401 RB1 and SP1 binding. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2) 18 Breast(25;0.00607) ATATTCTGATGGACAAAGAGAG 0.475000 125 22 0 0 0.004672 0 0 CALML5 51806 broad.mit.edu 37 10 5541065 5541065 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr10:5541065G>A uc001iic.2 - 0 469 c.337C>T c.(337-339)Ccg>Tcg p.P113S NM_017422 NP_059118 Q9NZT1 CALL5_HUMAN Homo sapiens calmodulin-like 5 (CALML5), mRNA. 113 EF-hand 3. epidermis development|signal transduction calcium ion binding|protein binding p.P113L(1) biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1) 8 TGCGGCAGCGGCTGCCCCAGC 0.706000 23 5 0 0 0.000602 0 0 OR6C75 390323 broad.mit.edu 37 12 55759684 55759684 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:55759684G>A uc010spk.2 + 0 790 c.790G>A c.(790-792)Gaa>Aaa p.E264K NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA. 264 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 TTCTGCCAGAGAAAGGGTGAC 0.418000 8 3 0 0 0.004672 0 0 PKM2 5315 broad.mit.edu 37 15 72501167 72501167 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr15:72501167G>A uc002aty.2 - 5 915 c.631C>T c.(631-633)Ctt>Ttt p.L211F PKM2_uc010bit.1_Missense_Mutation_p.L216F|PKM2_uc010uki.2_Missense_Mutation_p.L285F|PKM2_uc002atx.2_Missense_Mutation_p.L211F|PKM2_uc002atw.2_Missense_Mutation_p.L211F|PKM2_uc010ukj.2_Missense_Mutation_p.L196F|PKM2_uc010ukk.2_Missense_Mutation_p.L137F|PKM2_uc002atv.2_Missense_Mutation_p.L246F|PKM2_uc010biu.1_Missense_Mutation_p.L232F NM_002654 NP_002645 P14618 KPYM_HUMAN Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA. 211 glycolysis|programmed cell death cytosol|nucleus|plasma membrane ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1) 13 Pyruvic acid(DB00119) GCCCCAGGAAGGTTCACACCC 0.542000 33 4 0 0 0.000602 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456640 5456640 + Missense_Mutation SNP C G G TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:5456640C>G uc002mca.4 + 0 1215 c.1138C>G c.(1138-1140)Cgg>Ggg p.R380G NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA. 380 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) ACCGGGCCACCGGCCCCCCAT 0.672000 65 7 0 0 0.001984 0 0 DNAH2 146754 broad.mit.edu 37 17 7637788 7637788 + Splice_Site SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:7637788C>T uc002giu.1 + 6 754 c.740_splice c.e6-1 p.T247_splice DNAH2_uc002git.3_Splice_Site_p.T247_splice|DNAH2_uc010vuk.2_Splice_Site_p.T247_splice NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 247 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TCCCCTGCAGCCTCCATGATC 0.532000 50 8 0 0 0.003080 0 0 FOXK2 3607 broad.mit.edu 37 17 80543958 80543958 + Silent SNP C G G rs148659399 TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:80543958C>G uc002kfn.3 + 6 1629 c.1458C>G c.(1456-1458)gcC>gcG p.A486A FOXK2_uc002kfm.1_Silent_p.A486A|FOXK2_uc010diu.3_Intron NM_004514 NP_004505 Q01167 FOXK2_HUMAN Homo sapiens forkhead box K2 (FOXK2), mRNA. 486 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|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 NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) CCAGTGTGGCCGGACTGGCCC 0.662000 58 6 0 0 0.006214 0 0 PLCD3 113026 broad.mit.edu 37 17 43194126 43194126 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:43194126G>A uc002iib.3 - 7 1400 c.1286C>T c.(1285-1287)tCc>tTc p.S429F NM_133373 NP_588614 Q8N3E9 PLCD3_HUMAN Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA. 429 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) GTTCTCCAGGGATAGGATGAC 0.647000 83 15 0 0 0.001216 0 0 MYO18B 84700 broad.mit.edu 37 22 26164562 26164562 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr22:26164562G>A uc003abz.1 + 3 929 c.679G>A c.(679-681)Gga>Aga p.G227R MYO18B_uc003aca.1_Missense_Mutation_p.G108R|MYO18B_uc010guy.1_Missense_Mutation_p.G108R|MYO18B_uc010guz.1_Missense_Mutation_p.G108R|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 227 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity p.G227E(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 CCCAGGCCAAGGAACTGTGGC 0.617000 20 5 0 0 0.000602 0 0 TECTA 7007 broad.mit.edu 37 11 121058591 121058591 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:121058591C>T uc010rzo.2 + 19 6050 c.6050C>T c.(6049-6051)tCc>tTc p.S2017F NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 2017 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AATGCAGTCTCCCTGACCTGT 0.433000 73 13 0 0 0.003163 0 0 APBB2 323 broad.mit.edu 37 4 40832536 40832536 + Nonsense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:40832536G>A uc003gvn.3 - 12 2218 c.1588C>T c.(1588-1590)Cga>Tga p.R530* APBB2_uc010ifu.3_Nonsense_Mutation_p.R101*|APBB2_uc003gvl.3_Nonsense_Mutation_p.R529*|APBB2_uc003gvm.3_Nonsense_Mutation_p.R508*|APBB2_uc003gvk.3_5'UTR|APBB2_uc021xnt.1_5'UTR NM_004307 NP_004298 Q92870 APBB2_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA. 529 PID 1. cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 GTGTCACATCGAAATACATGA 0.433000 42 5 0 0 0.000602 0 0 ISOC2 79763 broad.mit.edu 37 19 55967743 55967743 + Silent SNP G A A rs11555785 by1000genomes TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:55967743G>A uc002qla.3 - 1 285 c.111C>T c.(109-111)atC>atT p.I37I ISOC2_uc002qlb.3_Silent_p.I37I|ISOC2_uc002qlc.3_Silent_p.I37I NM_024710 NP_078986 Q96AB3 ISOC2_HUMAN Homo sapiens isochorismatase domain containing 2 (ISOC2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 37 protein destabilization mitochondrion|nucleus catalytic activity|protein binding endometrium(1)|lung(4)|ovary(1)|stomach(1) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0535) CCACTGAGACGATCTGTGGGA 0.627000 107 19 0 0 0.007413 0 0 PHF20L1 51105 broad.mit.edu 37 8 133858053 133858053 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr8:133858053G>A uc003ytt.3 + 20 3264 c.2939G>A c.(2938-2940)gGg>gAg p.G980E PHF20L1_uc011lja.2_Missense_Mutation_p.G954E NM_016018 NP_057102 A8MW92 P20L1_HUMAN Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA. 980 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 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) GATTTCACAGGGGAGTTGGAG 0.408000 25 4 0 0 0.001168 0 0 ZNF862 643641 broad.mit.edu 37 7 149557631 149557631 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:149557631G>A uc010lpn.3 + 6 1574 c.1382G>A c.(1381-1383)aGg>aAg p.R461K NM_001099220 NP_001092690 O60290 ZN862_HUMAN Homo sapiens zinc finger protein 862 (ZNF862), mRNA. 461 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 AGGACATACAGGCCCCGTTCC 0.537000 194 29 0 0 0.002445 0 0 CCDC88A 55704 broad.mit.edu 37 2 55544901 55544901 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:55544901G>A uc002ryv.2 - 19 4240 c.3398C>T c.(3397-3399)tCc>tTc p.S1133F CCDC88A_uc010ypa.1_Missense_Mutation_p.S1133F|CCDC88A_uc010yoz.1_Missense_Mutation_p.S1134F|CCDC88A_uc002ryu.2_Missense_Mutation_p.S416F|CCDC88A_uc002rys.3_Missense_Mutation_p.S119F|CCDC88A_uc002ryw.3_Missense_Mutation_p.S417F|CCDC88A_uc010fby.1_Missense_Mutation_p.S13F NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA. 1134 DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 ATTTTCTAAGGAAGACTGCTG 0.353000 34 6 0 0 0.001984 0 0 CLSTN2 64084 broad.mit.edu 37 3 140282952 140282952 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:140282952G>A uc003etn.3 + 15 2822 c.2632G>A c.(2632-2634)Gat>Aat p.D878N NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN Homo sapiens calsyntenin 2 (CLSTN2), mRNA. 878 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 GGACTGGGACGATTCTGCGCT 0.582000 HNSCC(16;0.037) 35 5 0 0 0.000602 0 0 SUN5 140732 broad.mit.edu 37 20 31572976 31572976 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr20:31572976G>A uc002wyi.3 - 11 1006 c.913C>T c.(913-915)Ccc>Tcc p.P305S NM_080675 NP_542406 Q8TC36 SUN5_HUMAN Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA. 305 SUN. spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 TCCTCCTTGGGGGAGCCCTCC 0.577000 79 13 0 0 0.003163 0 0 BLK 640 broad.mit.edu 37 8 11407733 11407733 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr8:11407733C>T uc003wty.3 + 5 1015 c.434C>T c.(433-435)gCc>gTc p.A145V NM_001715 NP_001706 P51451 BLK_HUMAN Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA. 145 SH2. 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) ATCAACAAGGCCGGCTCCTTT 0.557000 152 13 0 0 0.004990 0 0 ZNF569 148266 broad.mit.edu 37 19 37905009 37905009 + Missense_Mutation SNP G T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:37905009G>T uc002ogj.3 - 8 1555 c.623C>A c.(622-624)aCc>aAc p.T208N ZNF569_uc002ogh.3_Missense_Mutation_p.T25N|ZNF569_uc002ogi.3_Missense_Mutation_p.T184N NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN Homo sapiens zinc finger protein 569 (ZNF569), mRNA. 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTTAAAGGGGGTAATGACAAA 0.373000 28 6 0.00116845 0.00155326 0.001168 1 0 MACF1 23499 broad.mit.edu 37 1 39824448 39824449 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:39824448_39824449CC>TT uc021olw.1 + 9 7343_7344 c.7343_7344CC>TT c.(7342-7344)gcc>gTT p.A2448V MACF1_uc021ols.1_Missense_Mutation_p.A1946V|MACF1_uc001cdc.2_Missense_Mutation_p.A1946V|MACF1_uc021olt.1_Missense_Mutation_p.A1946V|MACF1_uc001cda.1_Missense_Mutation_p.A1854V|MACF1_uc001cdb.1_Missense_Mutation_p.A1033V NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 4013 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) AGCCTGCAGGCCTGGATGCAGG 0.500000 47 5 0 0 0.004672 0 0 TTBK2 146057 broad.mit.edu 37 15 43044548 43044548 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr15:43044548C>T uc001zqo.2 - 13 3335 c.2896G>A c.(2896-2898)Gaa>Aaa p.E966K TTBK2_uc010bcy.2_Missense_Mutation_p.E897K NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA. 966 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) AGGAGCTTTTCTTTTGCAGAA 0.443000 63 10 0 0 0.000673 0 0 CAP2 10486 broad.mit.edu 37 6 17539604 17539604 + Silent SNP C T T rs150167032 TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr6:17539604C>T uc003ncb.3 + 7 984 c.741C>T c.(739-741)ttC>ttT p.F247F CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Silent_p.F221F|CAP2_uc011djb.2_Silent_p.F183F|CAP2_uc011djc.2_Silent_p.F135F|CAP2_uc011djd.2_Intron NM_006366 NP_006357 P40123 CAP2_HUMAN Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA. 247 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) CTCCACTTTTCGAGAATGAAG 0.507000 61 15 0 0 0.004007 0 0 PNLIP 5406 broad.mit.edu 37 10 118315528 118315528 + Silent SNP G C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr10:118315528G>C uc001lcm.3 + 8 871 c.828G>C c.(826-828)gcG>gcC p.A276A NM_000936 NP_000927 P16233 LIPP_HUMAN Homo sapiens pancreatic lipase (PNLIP), mRNA. 276 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) GAGACTTTGCGGCCTGTAATC 0.403000 52 4 0 0 0.000248 0 0 NBPF10 100132406 broad.mit.edu 37 1 144828688 144828688 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:144828688C>T uc009wig.1 + 21 2921 c.2727C>T c.(2725-2727)caC>caT p.H909H NBPF10_uc010oxo.1_Silent_p.H836H|NBPF10_uc010oxn.1_Silent_p.H809H|NBPF10_uc021oth.1_Silent_p.H571H|NBPF10_uc021otj.1_Silent_p.H938H|NBPF10_uc021oto.1_Silent_p.H726H|NBPF10_uc021otr.1_Silent_p.H238H|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Silent_p.H482H|NBPF10_uc010oyd.1_Silent_p.H238H|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 911 p.H578H(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAACAGCACATCAGCTTCG 0.433000 70 46 0 0 0.003610 0 0 SLC45A4 57210 broad.mit.edu 37 8 142225904 142225904 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr8:142225904G>A uc003ywd.1 - 5 2050 c.1742C>T c.(1741-1743)tCc>tTc p.S581F SLC45A4_uc003ywc.1_Missense_Mutation_p.S581F|SLC45A4_uc010meq.1_Missense_Mutation_p.S579F NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA. 632 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) CGGGCAGTAGGAGATGCTCAT 0.607000 118 10 0 0 0.006214 0 0 PRRG3 79057 broad.mit.edu 37 X 150868496 150868496 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:150868496G>A uc022cgt.1 + 2 85 c.36G>A c.(34-36)tcG>tcA p.S12S PRRG3_uc004few.2_Silent_p.S12S NM_024082 NP_076987 Q9BZD7 TMG3_HUMAN Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA. 12 extracellular region|integral to membrane calcium ion binding p.S12L(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) ATGCCCATTCGGTCCTGAAAC 0.607000 73 11 0 0 0.000673 0 0 C14orf166B 145497 broad.mit.edu 37 14 77319594 77319594 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr14:77319594G>A uc001xsx.2 + 8 963 c.849G>A c.(847-849)atG>atA p.M283I C14orf166B_uc010asn.1_Missense_Mutation_p.M43I|C14orf166B_uc001xsw.2_Intron|C14orf166B_uc010tvg.1_Non-coding_Transcript|C14orf166B_uc010tvh.1_Non-coding_Transcript NM_194287 NP_919263 Q0VAA2 CN16B_HUMAN Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA. 283 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) ATCTCTCCATGAATGGCTTTG 0.547000 101 11 0 0 0.000978 0 0 BOC 91653 broad.mit.edu 37 3 112969407 112969407 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:112969407G>A uc003dzx.3 + 3 724 c.103G>A c.(103-105)Gtc>Atc p.V35I BOC_uc010hqi.3_Missense_Mutation_p.V35I|BOC_uc003dzy.3_Missense_Mutation_p.V35I|BOC_uc003dzz.3_Missense_Mutation_p.V35I|BOC_uc003dzw.1_Missense_Mutation_p.V35I|BOC_uc003eaa.1_Missense_Mutation_p.V35I NM_033254 NP_150279 Q9BWV1 BOC_HUMAN Homo sapiens Boc homolog (mouse) (BOC), mRNA. 35 cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding p.E34K(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) TCCAGACGAGGTCCCTCAGGT 0.552000 83 5 0 0 0.000602 0 0 TUBAL3 79861 broad.mit.edu 37 10 5435757 5435758 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr10:5435757_5435758GG>AA uc001ihy.3 - 3 1101_1102 c.1063_1064CC>TT c.(1063-1065)cca>TTa p.P355L TUBAL3_uc001ihz.3_Missense_Mutation_p.P315L NM_024803 NP_079079 A6NHL2 TBAL3_HUMAN Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA. 355 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 GAAACCAGTTGGACACCAATCT 0.569000 49 6 0 0 0.004672 0 0 CTAGE11P 647288 broad.mit.edu 37 13 75814354 75814354 + Missense_Mutation SNP C G G TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr13:75814354C>G uc010ths.2 - 0 164 c.123G>C c.(121-123)tgG>tgC p.W41C Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA. CCACCAGTTCCCATGGAAAAC 0.488000 87 4 0 0 0.000602 0 0 RBM10 8241 broad.mit.edu 37 X 47039321 47039321 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:47039321C>T uc004dhi.3 + 9 1368 c.1139C>T c.(1138-1140)tCc>tTc p.S380F RBM10_uc004dhf.3_Missense_Mutation_p.S315F|RBM10_uc004dhh.3_Missense_Mutation_p.S315F|RBM10_uc010nhq.3_Missense_Mutation_p.S238F|RBM10_uc004dhg.3_Missense_Mutation_p.S238F NM_001204468 NP_001191397 P98175 RBM10_HUMAN Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA. 315 RRM 2. RNA splicing|mRNA processing chromatin remodeling complex RNA binding|nucleotide binding|zinc ion binding p.E380K(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 ACCATGGATTCCATCCTGGGG 0.602000 24 9 0 0 0.004482 0 0 SLC17A1 6568 broad.mit.edu 37 6 25799037 25799037 + Silent SNP T C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr6:25799037T>C uc003nfh.4 - 11 1496 c.1380A>G c.(1378-1380)aaA>aaG p.K460K SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Silent_p.K460K|SLC17A1_uc010jqc.1_Silent_p.K404K NM_005074 NP_005065 Q14916 NPT1_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA. 460 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity p.K460K(2) 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 GTTGTTTTTCTTTAGCCCAGT 0.428000 44 9 0 0 0.000673 0 0 HYAL4 23553 broad.mit.edu 37 7 123517096 123517096 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:123517096G>A uc003vlc.3 + 4 1971 c.1333G>A c.(1333-1335)Gat>Aat p.D445N HYAL4_uc011knz.2_3'UTR NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA. 445 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity p.D445A(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 TGAAGGAGCTGATTGCAGAGA 0.453000 38 8 0 0 0.004482 0 0 CACNA1G 8913 broad.mit.edu 37 17 48695472 48695472 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:48695472C>T uc002irk.1 + 30 5662 c.5290C>T c.(5290-5292)Ctc>Ttc p.L1764F CACNA1G_uc002irj.1_Missense_Mutation_p.L1730F|CACNA1G_uc002irl.1_Missense_Mutation_p.L1741F|CACNA1G_uc002irm.1_Missense_Mutation_p.L1730F|CACNA1G_uc002irn.1_Missense_Mutation_p.L1723F|CACNA1G_uc002iro.1_Missense_Mutation_p.L1730F|CACNA1G_uc002irp.1_Missense_Mutation_p.L1764F|CACNA1G_uc002irq.1_Missense_Mutation_p.L1741F|CACNA1G_uc002irr.1_Missense_Mutation_p.L1764F|CACNA1G_uc002irs.1_Missense_Mutation_p.L1753F|CACNA1G_uc002irt.1_Missense_Mutation_p.L1746F|CACNA1G_uc002iru.1_Missense_Mutation_p.L1730F|CACNA1G_uc002irv.1_Missense_Mutation_p.L1753F|CACNA1G_uc002irw.1_Missense_Mutation_p.L1741F|CACNA1G_uc002irx.1_Missense_Mutation_p.L1677F|CACNA1G_uc002iry.1_Missense_Mutation_p.L1666F|CACNA1G_uc002isg.1_Missense_Mutation_p.L1625F|CACNA1G_uc002ish.1_Missense_Mutation_p.L1632F|CACNA1G_uc002isi.1_Missense_Mutation_p.L1620F|CACNA1G_uc002irz.1_Missense_Mutation_p.L1670F|CACNA1G_uc002isa.1_Missense_Mutation_p.L1643F|CACNA1G_uc002isd.1_Missense_Mutation_p.L1652F|CACNA1G_uc002isb.1_Missense_Mutation_p.L1684F|CACNA1G_uc002isc.1_Missense_Mutation_p.L1666F|CACNA1G_uc002ise.1_Missense_Mutation_p.L1632F|CACNA1G_uc002isf.1_Missense_Mutation_p.L1659F NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 1764 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) GGGCGTGGAGCTCTTTGGAGA 0.562000 70 6 0 0 0.003080 0 0 VPS13D 55187 broad.mit.edu 37 1 12416123 12416123 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:12416123C>T uc001atv.3 + 47 9988 c.9847C>T c.(9847-9849)Cca>Tca p.P3283S VPS13D_uc001atw.3_Missense_Mutation_p.P3258S|VPS13D_uc001atx.3_Missense_Mutation_p.P2470S NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 3282 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CATTTCTGCTCCATATTGGCT 0.448000 47 5 0 0 0.001984 0 0 ODZ4 26011 broad.mit.edu 37 11 78369243 78369244 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:78369243_78369244CC>TT uc001ozl.4 - 33 8632_8633 c.8169_8170GG>AA c.(8167-8172)ggggag>ggAAag p.E2724K ODZ4_uc001ozk.4_Missense_Mutation_p.E949K NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 2724 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 TGCTGCTTCTCCCCCTCTGTCC 0.653000 105 16 0 0 0.004672 0 0 C3orf71 646450 broad.mit.edu 37 3 48956246 48956246 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:48956246G>A uc010hkk.1 - 0 573 c.337C>T c.(337-339)Ccg>Tcg p.P113S ARIH2_uc003cvb.3_5'Flank|ARIH2_uc003cvc.3_5'Flank NM_001123040 NP_001116512 Q8N7S6 CC071_HUMAN Homo sapiens chromosome 3 open reading frame 71 (C3orf71), mRNA. 113 integral to membrane breast(1)|endometrium(2)|lung(1)|urinary_tract(1) 5 CCCCGATCCGGAAGTGACGCA 0.687000 38 8 0 0 0.004482 0 0 DPH2 1802 broad.mit.edu 37 1 44437691 44437692 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:44437691_44437692CC>TT uc001ckz.3 + 3 1312_1313 c.1117_1118CC>TT c.(1117-1119)cca>TTa p.P373L DPH2_uc001cla.3_Intron|DPH2_uc010okk.2_Missense_Mutation_p.P238L|DPH2_uc001clb.3_Missense_Mutation_p.P297L|ATP6V0B_uc001cld.3_5'Flank|ATP6V0B_uc001cle.3_5'Flank|ATP6V0B_uc001clf.3_5'Flank NM_001384 NP_001375 Q9BQC3 DPH2_HUMAN Homo sapiens DPH2 homolog (S. cerevisiae) (DPH2), transcript variant 1, mRNA. 373 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) CCCTGCCTGGCCACCTCCAGGC 0.599000 74 23 0 0 0.004672 0 0 PSD4 23550 broad.mit.edu 37 2 113950695 113950695 + Nonsense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:113950695C>T uc002tjc.3 + 6 2092 c.1909C>T c.(1909-1911)Cga>Tga p.R637* PSD4_uc002tjd.3_Nonsense_Mutation_p.R258*|PSD4_uc002tje.3_Nonsense_Mutation_p.R608*|PSD4_uc002tjf.3_Nonsense_Mutation_p.R258* NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA. 637 SEC7. R -> Q (in dbSNP:rs45487591). 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 GAGTCTGGACCGAGCCCTCCG 0.597000 54 7 0 0 0.003080 0 0 LILRA5 353514 broad.mit.edu 37 19 54823298 54823298 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:54823298C>T uc002qfe.3 - 3 365 c.245G>A c.(244-246)gGa>gAa p.G82E LILRA5_uc002qff.3_Missense_Mutation_p.G70E|LILRA5_uc010yev.2_Missense_Mutation_p.G82E|LILRA5_uc010yew.2_Missense_Mutation_p.G70E|LILRA5_uc002qfg.1_Missense_Mutation_p.G82E|LILRA5_uc002qfh.1_Missense_Mutation_p.G70E NM_021250 NP_067073 A6NI73 LIRA5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA. 82 Ig-like C2-type 1. innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TTCTGGGCTTCCCTCTTTAAC 0.597000 115 21 0 0 0.001523 0 0 TAF1L 138474 broad.mit.edu 37 9 32631080 32631080 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr9:32631080G>A uc003zrg.1 - 0 4588 c.4498C>T c.(4498-4500)Ctt>Ttt p.L1500F AX747113_uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 1500 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) TTCTCTTTAAGTTTTTCATCA 0.408000 43 8 0 0 0.000673 0 0 KCNQ3 3786 broad.mit.edu 37 8 133182620 133182620 + Nonsense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr8:133182620C>T uc003ytj.3 - 7 1421 c.1196G>A c.(1195-1197)tGg>tAg p.W399* KCNQ3_uc003yti.3_Nonsense_Mutation_p.W279*|KCNQ3_uc010mdt.3_Nonsense_Mutation_p.W399* NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 399 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) ATAAAATCTCCATGTCGCCAC 0.532000 32 5 0 0 0.001168 0 0 PRRC2C 23215 broad.mit.edu 37 1 171553299 171553299 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:171553299C>T uc010pmg.2 + 28 7874 c.7608C>T c.(7606-7608)tcC>tcT p.S2536S PRRC2C_uc010pmh.2_Silent_p.S1448S|PRRC2C_uc010pmi.2_Silent_p.S373S|PRRC2C_uc010pmj.2_Silent_p.S63S NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA. 2536 Gln-rich. protein C-terminus binding TAGGAGGTTCCCAGCTGATTG 0.448000 38 5 0 0 0.001168 0 0 abParts 0 broad.mit.edu 37 14 106725137 106725137 + RNA SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr14:106725137C>T uc021ser.1 - 928 c.22341G>A Parts of antibodies, mostly variable regions. CCGCTGATTTCCCCCCCATCG 0.587000 40 7 0 0 0.001984 0 0 CAMK1G 57172 broad.mit.edu 37 1 209785546 209785546 + Missense_Mutation SNP A C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:209785546A>C uc001hhd.3 + 10 1427 c.1325A>C c.(1324-1326)aAg>aCg p.K442T CAMK1G_uc001hhf.4_Missense_Mutation_p.K442T|CAMK1G_uc001hhe.3_Missense_Mutation_p.K442T NM_020439 NP_065172 Q96NX5 KCC1G_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA. 442 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) CTCCTCAAAAAGGCCAACAAA 0.532000 73 12 0 0 0.001368 0 0 H3F3C 440093 broad.mit.edu 37 12 31945009 31945009 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:31945009G>A uc001rkr.3 - 0 167 c.92C>T c.(91-93)cCc>cTc p.P31L NM_001013699 NP_001013721 Q6NXT2 H3C_HUMAN Homo sapiens H3 histone, family 3C (H3F3C), mRNA. 31 nucleosome assembly nucleosome|nucleus DNA binding p.T30I(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 18 GCAGGTAGAGGGGGTGCTTTT 0.587000 HNSCC(67;0.2) 83 15 0 0 0.004007 0 0 SORCS3 22986 broad.mit.edu 37 10 106959778 106959778 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr10:106959778C>T uc001kyi.1 + 14 2258 c.2031C>T c.(2029-2031)ctC>ctT p.L677L SORCS3_uc010qqz.1_Non-coding_Transcript NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 677 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) ACTTCAGCCTCCGCTCCGAAT 0.498000 13 3 0 0 0.004672 0 0 ABCC10 89845 broad.mit.edu 37 6 43402442 43402442 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr6:43402442C>T uc003ouy.1 + 3 1679 c.1464C>T c.(1462-1464)tgC>tgT p.C488C ABCC10_uc003ouz.1_Silent_p.C445C|ABCC10_uc010jyo.1_5'Flank NM_001198934 NP_001185863 Q5T3U5 MRP7_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA. 488 ABC transmembrane type-1 1. 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) TAGAGGCCTGCCGGGCTCGAG 0.592000 155 56 0 0 0.003610 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19415641 19415641 + RNA SNP A T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr13:19415641A>T uc010tcj.1 - 0 c.30469T>A Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. aaaaaaaaaaaaacccaaaca 0.418000 36 4 0 0 0.000248 0 0 ARHGAP11B 89839 broad.mit.edu 37 15 30938448 30938448 + RNA SNP A G G rs146574312 by1000genomes TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr15:30938448A>G uc010azv.1 + 10 c.1258A>G ARHGAP11B_uc001zeu.3_Non-coding_Transcript|LOC100288637_uc001zev.3_Non-coding_Transcript Q3KRB8 RHGBB_HUMAN Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1) 8 all_lung(180;2.71e-09)|Breast(32;0.00116) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) CTATTTGTGCATGGTGGCTGG 0.483000 15 3 0 0 0.000602 0 0 NCKAP5 344148 broad.mit.edu 37 2 133543088 133543088 + Silent SNP C T T rs142356779 TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:133543088C>T uc002ttp.3 - 13 1670 c.1296G>A c.(1294-1296)tcG>tcA p.S432S NCKAP5_uc002ttq.3_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 432 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TTCCTTCATTCGAGTTCATGC 0.463000 40 6 0 0 0.001168 0 0 DRD5 1816 broad.mit.edu 37 4 9784016 9784016 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:9784016C>T uc003gmb.4 + 0 759 c.363C>T c.(361-363)atC>atT p.I121I NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 121 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CCTTCGACATCATGTGCTCCA 0.617000 65 8 0 0 0.003080 0 0 CMTM2 146225 broad.mit.edu 37 16 66613691 66613691 + Missense_Mutation SNP G A A rs9925443 byFrequency TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr16:66613691G>A uc002ept.3 + 0 341 c.181G>A c.(181-183)Gaa>Aaa p.E61K CMTM2_uc010cdu.3_Missense_Mutation_p.E61K NM_144673 NP_653274 Q8TAZ6 CKLF2_HUMAN Homo sapiens CKLF-like MARVEL transmembrane domain containing 2 (CMTM2), transcript variant 1, mRNA. 61 chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212) GCCCAAGCACGAAGTGGGCAC 0.557000 96 13 0 0 0.003163 0 0 OXR1 55074 broad.mit.edu 37 8 107705067 107705067 + Missense_Mutation SNP T A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr8:107705067T>A uc011lht.2 + 5 739 c.640T>A c.(640-642)Ttt>Att p.F214I OXR1_uc022azp.1_Missense_Mutation_p.F213I|OXR1_uc003ymf.3_Missense_Mutation_p.F213I|OXR1_uc011lhu.2_Missense_Mutation_p.F206I|OXR1_uc010mcg.3_Intron|OXR1_uc003ymg.1_Missense_Mutation_p.F146I|OXR1_uc003ymi.1_Missense_Mutation_p.F125I NM_001198532 NP_001185461 Q8N573 OXR1_HUMAN Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA. 214 GRAM. cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) TACTGAGAAATTTCTTAAAAT 0.358000 30 10 0 0 0.006214 0 0 MPEG1 219972 broad.mit.edu 37 11 58980257 58980257 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:58980257C>T uc001nnu.4 - 0 238 c.82G>A c.(82-84)Gaa>Aaa p.E28K NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN Homo sapiens macrophage expressed 1 (MPEG1), mRNA. 28 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) ACTCCAACTTCGTCCATCTCT 0.557000 41 6 0 0 0.003080 0 0 RBM15B 29890 broad.mit.edu 37 3 51430259 51430259 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:51430259C>T uc003dbd.3 + 0 1561 c.1429C>T c.(1429-1431)Ccc>Tcc p.P477S NM_013286 NP_037418 Q8NDT2 RB15B_HUMAN Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA. 477 RRM 3. RNA splicing|interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm RNA binding|nucleotide binding|protein binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GAGGGGTTTTCCCTTGGGTGG 0.562000 94 16 0 0 0.004007 0 0 RCAN1 1827 broad.mit.edu 37 21 35895908 35895908 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr21:35895908G>A uc002yue.3 - 1 425 c.353C>T c.(352-354)tCc>tTc p.S118F RCAN1_uc002yuc.3_Missense_Mutation_p.S37F|RCAN1_uc002yud.3_5'UTR|RCAN1_uc002yub.3_Missense_Mutation_p.S63F|RCAN1_uc011adx.1_Missense_Mutation_p.S63F NM_004414 NP_004405 P53805 RCAN1_HUMAN Homo sapiens regulator of calcineurin 1 (RCAN1), transcript variant 1, mRNA. 118 blood circulation|calcium-mediated signaling|central nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 ATCTGCTGCGGAGAAGGGGTT 0.443000 665 75 0 0 0.003610 0 0 NRXN1 9378 broad.mit.edu 37 2 50779744 50779744 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:50779744G>A uc021vhh.1 - 7 2661 c.1740C>T c.(1738-1740)ttC>ttT p.F580F NRXN1_uc002rxb.4_Silent_p.F252F|NRXN1_uc021vhg.1_Silent_p.F620F|NRXN1_uc021vhi.1_Silent_p.F616F|NRXN1_uc021vhj.1_Silent_p.F576F|NRXN1_uc002rxc.1_Non-coding_Transcript NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 580 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CGTCTCTCTGGAAGTCCACAT 0.453000 94 17 0 0 0.007413 0 0 AMIGO1 57463 broad.mit.edu 37 1 110051031 110051032 + Missense_Mutation DNP GT AA AA TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:110051031_110051032GT>AA uc021org.1 - 0 503_504 c.503_504AC>TT c.(502-504)aac>aTT p.N168I AMIGO1_uc001dxx.4_Missense_Mutation_p.N168I NM_020703 NP_065754 Q86WK6 AMGO1_HUMAN Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA. 168 axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) GAGAGATCTGGTTCTGGCTCAA 0.530000 232 20 0 0 0.004672 0 0 LPCAT1 79888 broad.mit.edu 37 5 1474742 1474743 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:1474742_1474743CC>TT uc003jcm.3 - 9 1074_1075 c.957_958GG>AA c.(955-960)gcggaa>gcAAaa p.E320K NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA. 320 phospholipid biosynthetic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) AGCTGTCCTTCCGCCAGGGCCA 0.619000 35 6 0 0 0.004672 0 0 CAST 831 broad.mit.edu 37 5 96065389 96065389 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:96065389C>T uc011cuo.1 + 6 482 c.398C>T c.(397-399)tCa>tTa p.S133L CAST_uc003klt.3_Missense_Mutation_p.S87L|CAST_uc021ybr.1_Missense_Mutation_p.S148L|CAST_uc003klx.3_Missense_Mutation_p.S129L|CAST_uc003klz.1_Missense_Mutation_p.S87L|CAST_uc011cup.2_Missense_Mutation_p.S65L|CAST_uc011cuq.2_Intron|CAST_uc021ybs.1_Missense_Mutation_p.S87L|CAST_uc021ybt.1_Missense_Mutation_p.S65L|CAST_uc011cut.2_Missense_Mutation_p.S65L|CAST_uc011cur.2_Missense_Mutation_p.S73L|CAST_uc011cus.2_Missense_Mutation_p.S87L|CAST_uc003kma.2_Missense_Mutation_p.S46L|CAST_uc003kmd.3_Missense_Mutation_p.S65L NM_173060 NP_775083 P20810 ICAL_HUMAN Homo sapiens calpastatin (CAST), transcript variant 2, mRNA. 87 calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 22 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) GTTTCCAGATCAGCTGAACAG 0.423000 32 5 0 0 0.000602 0 0 EXOSC5 56915 broad.mit.edu 37 19 41898821 41898821 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:41898821G>A uc002oqo.3 - 1 236 c.213C>T c.(211-213)ttC>ttT p.F71F BCKDHA_uc002oqm.4_Intron NM_020158 NP_064543 Q9NQT4 EXOS5_HUMAN Homo sapiens exosome component 5 (EXOSC5), mRNA. 71 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|RNA binding|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 7 TGGCCTTGTTGAAAATCTCTT 0.572000 88 13 0 0 0.002450 0 0 DRGX 644168 broad.mit.edu 37 10 50594617 50594617 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr10:50594617G>A uc010qgq.2 - 4 448 c.448C>T c.(448-450)Cct>Tct p.P150S DRGX_uc021pqd.1_Missense_Mutation_p.P145S NM_001080520 NP_001073989 C9JW76 C9JW76_HUMAN Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA. 150 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 GGCCCTGCAGGACCTACCGTT 0.627000 7 4 0 0 0.000602 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813481 106813481 + Missense_Mutation SNP C A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr8:106813481C>A uc003ymd.3 + 7 1194 c.1171C>A c.(1171-1173)Ctt>Att p.L391I ZFPM2_uc011lhs.2_Missense_Mutation_p.L122I NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 391 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TAGCGGCAAACTTCCCAGAGA 0.517000 41 7 0.00198382 0.00263192 0.001984 1 0 RGS12 6002 broad.mit.edu 37 4 3417784 3417785 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:3417784_3417785CC>TT uc003ggw.3 + 6 3267_3268 c.2363_2364CC>TT c.(2362-2364)gcc>gTT p.A788V RGS12_uc003ggu.2_Missense_Mutation_p.A788V|RGS12_uc010ics.1_5'UTR|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.A788V|RGS12_uc003ggy.1_Missense_Mutation_p.A186V|RGS12_uc010ict.1_Missense_Mutation_p.A140V|RGS12_uc003ggz.3_Missense_Mutation_p.A140V|RGS12_uc010icu.1_5'UTR|RGS12_uc011bvs.2_Missense_Mutation_p.A130V|RGS12_uc003gha.3_Missense_Mutation_p.A130V|RGS12_uc010icv.3_5'UTR|RGS12_uc003ghb.2_5'UTR NM_198229 NP_937872 O14924 RGS12_HUMAN Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA. 788 RGS. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GACAGCCAGGCCCAGCTAGCAG 0.599000 56 7 0 0 0.004672 0 0 BMPER 168667 broad.mit.edu 37 7 34009962 34009962 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:34009962G>A uc011kap.2 + 5 798 c.424G>A c.(424-426)Ggg>Agg p.G142R NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN Homo sapiens BMP binding endothelial regulator (BMPER), mRNA. 142 VWFC 2. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 CACAGAGTCTGGGGTGCGCTG 0.493000 46 7 0 0 0.003080 0 0 POLR2A 5430 broad.mit.edu 37 17 7402610 7402610 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:7402610C>T uc002ghf.4 + 9 1857 c.1471C>T c.(1471-1473)Ccg>Tcg p.P491S POLR2A_uc002ghe.3_Missense_Mutation_p.P491S NM_000937 NP_000928 P24928 RPB1_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA. 491 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) TGTGACAACTCCGTACAATGC 0.547000 46 8 0 0 0.003080 0 0 ADAM18 8749 broad.mit.edu 37 8 39564371 39564371 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr8:39564371C>T uc003xni.3 + 17 2020 c.1965C>T c.(1963-1965)ttC>ttT p.F655F ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.F631F NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 655 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding p.F655I(1) 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) ATTGTAAATTCCAGTTTGGTT 0.338000 69 21 0 0 0.003954 0 0 MRPL38 64978 broad.mit.edu 37 17 73895042 73895042 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:73895042G>A uc010wso.1 - 8 1257 c.1032C>T c.(1030-1032)ttC>ttT p.F344F FBF1_uc002jqa.1_Non-coding_Transcript|TRIM65_uc002jpx.3_5'Flank|MRPL38_uc002jpz.1_Non-coding_Transcript NM_032478 NP_115867 Q96DV4 RM38_HUMAN Homo sapiens mitochondrial ribosomal protein L38 (MRPL38), nuclear gene encoding mitochondrial protein, mRNA. 344 actin cytoskeleton|mitochondrion|ribosome ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) GCGGCCGCACGAACTCAAACA 0.672000 23 5 0 0 0.001168 0 0 PRSS22 64063 broad.mit.edu 37 16 2906157 2906157 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr16:2906157C>T uc002cry.1 - 2 273 c.207G>A c.(205-207)aaG>aaA p.K69K NM_022119 NP_071402 Q9GZN4 BSSP4_HUMAN Homo sapiens protease, serine, 22 (PRSS22), mRNA. 69 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2) 10 GGGTCCCATTCTTCTGGATGC 0.627000 101 11 0 0 0.000978 0 0 BHLHB9 80823 broad.mit.edu 37 X 102004256 102004256 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:102004256C>T uc022cbi.1 + 0 333 c.333C>T c.(331-333)ttC>ttT p.F111F BHLHB9_uc010nog.3_Silent_p.F111F|BHLHB9_uc011mrq.2_Silent_p.F111F|BHLHB9_uc011mrr.2_Silent_p.F111F|BHLHB9_uc011mrs.2_Silent_p.F111F|BHLHB9_uc011mrt.2_Silent_p.F111F|BHLHB9_uc004ejo.3_Silent_p.F111F|BHLHB9_uc011mru.2_Silent_p.F111F|BHLHB9_uc011mrv.2_Silent_p.F111F NM_030639 NP_085142 Q6PI77 BHLH9_HUMAN Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA. 111 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATGCCTGGTTCTGGGCTGGGG 0.493000 85 18 0 0 0.006122 0 0 MLL2 8085 broad.mit.edu 37 12 49434651 49434652 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:49434651_49434652GG>AA uc001rta.4 - 30 6901_6902 c.6901_6902CC>TT c.(6901-6903)ccc>TTc p.P2301F NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 2301 Pro-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 CAGGTTTGGGGGCCCATAGCTA 0.614000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 64 11 0 0 0.004672 0 0 FNBP1 23048 broad.mit.edu 37 9 132678258 132678258 + Splice_Site SNP A C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr9:132678258A>C uc004byw.1 - 11 1390 c.1171_splice c.e11-1 p.L391_splice FNBP1_uc011mbv.1_Splice_Site_p.L381_splice|FNBP1_uc011mbw.1_Intron|FNBP1_uc004bza.2_Intron|FNBP1_uc004byz.1_Splice_Site_p.L362_splice|FNBP1_uc011mbu.1_Splice_Site_p.L19_splice|FNBP1_uc004byx.1_Intron|FNBP1_uc004byy.1_Intron NM_015033 NP_055848 Q96RU3 FNBP1_HUMAN Homo sapiens formin binding protein 1 (FNBP1), mRNA. 391 Required for self-association and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) CTTGAGAGAAAGCTTCATGTA 0.393000 T MLL AML 16 3 0 0 0.004672 0 0 IQCF1 132141 broad.mit.edu 37 3 51937102 51937102 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:51937102C>T uc003dbv.3 - 1 105 c.7G>A c.(7-9)Gag>Aag p.E3K IQCF1_uc003dbq.4_Non-coding_Transcript NM_152397 NP_689610 Q8N6M8 IQCF1_HUMAN Homo sapiens IQ motif containing F1 (IQCF1), mRNA. 3 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GGCTGCTTCTCCTCCTGCAAT 0.527000 255 48 0 0 0.003610 0 0 abParts 0 broad.mit.edu 37 2 90139548 90139548 + RNA SNP A G G TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:90139548A>G uc010yts.2 + 30 c.3606A>G Parts of antibodies, mostly variable regions. AGATTTTGCAACTTATTACTG 0.512000 11 3 0 0 0.001168 0 0 MLL2 8085 broad.mit.edu 37 12 49432233 49432233 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:49432233G>A uc001rta.4 - 33 8906 c.8906C>T c.(8905-8907)tCg>tTg p.S2969L NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 2969 Pro-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 CTCAGTGCTCGACGGGGGCCG 0.612000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 157 27 0 0 0.001512 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766838 77766838 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr8:77766838C>T uc003yau.2 + 9 8068 c.7681C>T c.(7681-7683)Cct>Tct p.P2561S ZFHX4_uc003yaw.1_Missense_Mutation_p.P2516S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2516 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) TCAAATGCCCCCTCAGGCCAG 0.493000 HNSCC(33;0.089) 24 7 0 0 0.001984 0 0 HEPACAM 220296 broad.mit.edu 37 11 124794781 124794781 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:124794781G>A uc001qbk.3 - 1 676 c.270C>T c.(268-270)acC>acT p.T90T HEPACAM_uc009zbj.3_5'Flank|HEPACAM_uc001qbl.1_Silent_p.T90T NM_152722 NP_689935 Q14CZ8 HECAM_HUMAN Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA. 90 Ig-like V-type. cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) CAGGCCGCAGGGTGCCGATGA 0.592000 111 14 0 0 0.004990 0 0 OR8H3 390152 broad.mit.edu 37 11 55890553 55890553 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:55890553G>A uc001nii.1 + 0 705 c.705G>A c.(703-705)caG>caA p.Q235Q NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA. 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) CAGGAAAGCAGAAAGCTTTCT 0.413000 19 3 0 0 0.004672 0 0 PNPLA6 10908 broad.mit.edu 37 19 7626392 7626392 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:7626392C>T uc010xjq.2 + 33 4312 c.4072C>T c.(4072-4074)Ctc>Ttc p.L1358F PNPLA6_uc002mgq.2_Missense_Mutation_p.L1310F|PNPLA6_uc010xjp.2_Missense_Mutation_p.L1283F|PNPLA6_uc002mgr.2_Missense_Mutation_p.L1310F|PNPLA6_uc002mgs.3_Missense_Mutation_p.L1348F NM_001166111 NP_001159583 Q8IY17 PLPL6_HUMAN Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA. 1349 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 GAAGTCGATTCTCCGGCAACG 0.652000 20 5 0 0 0.001984 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12954433 12954433 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:12954433G>A uc001auo.3 - 2 923 c.850C>T c.(850-852)Ctg>Ttg p.L284L NM_001039361 NP_001034450 O60809 PRA10_HUMAN Homo sapiens PRAME family member 10 (PRAMEF10), mRNA. 284 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) AGGTGCTCCAGGTGCTCTTTG 0.448000 68 10 0 0 0.004990 0 0 C7orf60 154743 broad.mit.edu 37 7 112462260 112462260 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:112462260G>A uc011kms.1 - 5 962 c.835C>T c.(835-837)Cct>Tct p.P279S C7orf60_uc003vgo.1_Missense_Mutation_p.P253S NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA. 253 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 CGCTGGTAAGGAGATGGAAAA 0.403000 15 4 0 0 0.000248 0 0 CHST11 50515 broad.mit.edu 37 12 105151222 105151222 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:105151222G>A uc001tkz.3 + 2 1198 c.700G>A c.(700-702)Gat>Aat p.D234N CHST11_uc001tky.3_Missense_Mutation_p.D229N NM_018413 NP_060883 Q9NPF2 CHSTB_HUMAN Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA. 234 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 CAAAGGGGACGATGTCAAATT 0.562000 63 4 0 0 0.000602 0 0 ENC1 8507 broad.mit.edu 37 5 73931417 73931417 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:73931417G>A uc003kdc.4 - 1 2025 c.894C>T c.(892-894)ttC>ttT p.F298F ENC1_uc011css.2_Silent_p.F225F|ENC1_uc021yao.1_Silent_p.F298F NM_003633 NP_003624 O14682 ENC1_HUMAN Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA. 298 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) CTCCCAGAAGGAAGAGGGCAT 0.507000 80 12 0 0 0.000978 0 0 DYSF 8291 broad.mit.edu 37 2 71740985 71740985 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:71740985G>A uc010fen.3 + 6 834 c.693G>A c.(691-693)ggG>ggA p.G231G DYSF_uc010fei.3_Silent_p.G230G|DYSF_uc010feh.3_Silent_p.G199G|DYSF_uc002sig.4_Silent_p.G199G|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.G230G|DYSF_uc010fee.3_Silent_p.G199G|DYSF_uc010fef.3_Silent_p.G230G|DYSF_uc002sie.3_Silent_p.G199G|DYSF_uc010feo.3_Silent_p.G231G|DYSF_uc010fej.3_Silent_p.G200G|DYSF_uc010fel.3_Silent_p.G200G|DYSF_uc010fem.3_Silent_p.G200G|DYSF_uc002sif.3_Silent_p.G200G|DYSF_uc010fek.3_Silent_p.G231G NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 199 C2 2. 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 ACTACCCCGGGATCAAAAGAA 0.587000 49 4 0 0 0.000602 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605331 140605331 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:140605331G>A uc003ljb.3 + 0 2254 c.2254G>A c.(2254-2256)Gag>Aag p.E752K NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN Homo sapiens protocadherin beta 14 (PCDHB14), mRNA. 752 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.E752K(2)|p.Y751Y(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTACCAATACGAGGTGTGTCT 0.572000 201 22 0 0 0.002299 0 0 USP26 83844 broad.mit.edu 37 X 132161158 132161158 + Missense_Mutation SNP A G G TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:132161158A>G uc011mvf.2 - 0 1143 c.1091T>C c.(1090-1092)cTt>cCt p.L364P USP26_uc010nrm.1_Missense_Mutation_p.L364P NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA. 364 L -> F. protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.L364P(2) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) GGCCTTTTTAAGATTCAAGAG 0.373000 26 3 0 0 0.004672 0 0 ATP2B4 493 broad.mit.edu 37 1 203680092 203680092 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:203680092C>T uc001gzw.3 + 11 2784 c.1887C>T c.(1885-1887)ccC>ccT p.P629P ATP2B4_uc001gzv.3_Silent_p.P629P|ATP2B4_uc009xaq.3_Silent_p.P629P NM_001684 NP_001675 P23634 AT2B4_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA. 629 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TCATCGAGCCCATGGCCTGTG 0.522000 12 5 0 0 0.000602 0 0 MAGEA5 4104 broad.mit.edu 37 X 151283948 151283949 + Missense_Mutation DNP GC AA AA TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:151283948_151283949GC>AA uc004ffj.3 - 2 236_237 c.64_65GC>TT c.(64-66)gcc>TTc p.A22F MAGEA5_uc022cgy.1_Missense_Mutation_p.A22F NM_021049 NP_066387 P43359 MAGA5_HUMAN Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA. 22 MAGE. endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Acute lymphoblastic leukemia(192;6.56e-05) CAGGCCCAGGGCCTCTTCTTGG 0.629000 62 8 0 0 0.004672 0 0 GAPVD1 26130 broad.mit.edu 37 9 128083743 128083743 + Missense_Mutation SNP A C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr9:128083743A>C uc004bpp.3 + 7 1794 c.1634A>C c.(1633-1635)cAa>cCa p.Q545P GAPVD1_uc011lzs.1_Missense_Mutation_p.Q545P|GAPVD1_uc004bpq.3_Missense_Mutation_p.Q545P|GAPVD1_uc010mwx.3_Missense_Mutation_p.Q545P|GAPVD1_uc004bpr.3_Missense_Mutation_p.Q545P|GAPVD1_uc004bps.3_Missense_Mutation_p.Q545P|GAPVD1_uc010mwy.1_Missense_Mutation_p.Q404P NM_015635 NP_056450 Q14C86 GAPD1_HUMAN Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA. 545 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GATGGAGGACAAGGAGATGTC 0.383000 51 4 0 0 0.000248 0 0 PSG4 5672 broad.mit.edu 37 19 43414918 43414918 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:43414918C>T uc002ovj.1 - 2 619 c.520G>A c.(520-522)Gat>Aat p.D174N PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.D174N NM_002782 NP_002773 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA. 175 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) TAGCTTGCATCCGGAGTCTCA 0.537000 125 34 0 0 0.002096 0 0 SLC6A11 6538 broad.mit.edu 37 3 10960088 10960088 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:10960088G>A uc003bvz.3 + 7 1104 c.1070G>A c.(1069-1071)gGt>gAt p.G357D NM_014229 NP_055044 P48066 S6A11_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA. 357 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) TCAGTCCTGGGTTTTATGGCG 0.587000 43 8 0 0 0.004482 0 0 HIF3A 64344 broad.mit.edu 37 19 46832553 46832553 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:46832553G>A uc002peh.3 + 11 1561 c.1530G>A c.(1528-1530)agG>agA p.R510R HIF3A_uc002peg.4_Silent_p.R510R|HIF3A_uc021uwf.1_Silent_p.R454R|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Silent_p.R441R|HIF3A_uc002pel.3_Silent_p.R508R|HIF3A_uc010xxz.2_Silent_p.R459R NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA. 510 ODD. 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) AGCTACCCAGGGCCTACCACA 0.652000 105 16 0 0 0.004007 0 0 USP39 10713 broad.mit.edu 37 2 85866352 85866352 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:85866352C>T uc002sqe.3 + 8 1158 c.1122C>T c.(1120-1122)ctC>ctT p.L374L USP39_uc002sqb.3_Silent_p.L105L|USP39_uc010ysu.2_Silent_p.L296L|USP39_uc010ysv.2_Silent_p.L271L|USP39_uc010fgn.1_Silent_p.L374L|USP39_uc002sqg.3_Silent_p.L374L|USP39_uc010fgo.3_Silent_p.L374L NM_006590 NP_006581 Q53GS9 SNUT2_HUMAN Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA. 374 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 AGCAGTTGCTCCATAATGACG 0.478000 31 5 0 0 0.001168 0 0 TNN 63923 broad.mit.edu 37 1 175048471 175048471 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:175048471C>T uc001gkl.1 + 2 525 c.412C>T c.(412-414)Cta>Tta p.L138L TNN_uc010pmx.1_Silent_p.L138L NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 138 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCTCCCAGATCTAAGCCGCCA 0.622000 25 4 0 0 0.001168 0 0 STRADA 92335 broad.mit.edu 37 17 61781861 61781861 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:61781861G>A uc002jbm.3 - 10 1214 c.940C>T c.(940-942)Cct>Tct p.P314S STRADA_uc002jbn.3_Missense_Mutation_p.P256S|STRADA_uc010wpq.2_Missense_Mutation_p.P270S|STRADA_uc010wpr.2_Missense_Mutation_p.P285S|STRADA_uc002jbo.3_Missense_Mutation_p.P277S|STRADA_uc002jbp.3_Missense_Mutation_p.P277S|STRADA_uc010ddw.3_Missense_Mutation_p.P285S|STRADA_uc002jbr.3_3'UTR NM_001003787 NP_001003788 Q7RTN6 STRAA_HUMAN Homo sapiens STE20-related kinase adaptor alpha (STRADA), transcript variant 1, mRNA. 314 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|kinase binding|protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2) 13 GAGCGCGAAGGGCTCATGGTC 0.637000 96 14 0 0 0.007413 0 0 TGM5 9333 broad.mit.edu 37 15 43552346 43552346 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr15:43552346G>A uc001zrd.2 - 2 348 c.340C>T c.(340-342)Cgg>Tgg p.R114W TGM5_uc001zre.2_Intron NM_201631 NP_963925 O43548 TGM5_HUMAN Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA. 114 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) AAGAGGTACCGACCCACGGCC 0.612000 149 14 0 0 0.002450 0 0 MYBPC2 4606 broad.mit.edu 37 19 50944201 50944201 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:50944201G>A uc002psf.2 + 7 688 c.637G>A c.(637-639)Gag>Aag p.E213K NM_004533 NP_004524 Q14324 MYPC2_HUMAN Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA. 213 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) CATCCCCCCGGAGATTTGGGA 0.577000 32 14 0 0 0.002450 0 0 DDN 23109 broad.mit.edu 37 12 49390535 49390535 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:49390535C>T uc001rsv.1 - 1 2142 c.2124G>A c.(2122-2124)agG>agA p.R708R NM_015086 NP_055901 O94850 DEND_HUMAN Homo sapiens dendrin (DDN), mRNA. 708 Interaction with CD2AP and NPHS1 (By similarity). dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 ACTGCCTCTTCCTATTTCCCT 0.547000 OREG0021778 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 71 13 0 0 0.003163 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143604 61143604 + RNA SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr20:61143604G>A uc021wfy.1 - 0 c.279C>T C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds. GGGGCTAAGGGGCCACTTGGG 0.652000 68 11 0 0 0.000673 0 0 POTEC 388468 broad.mit.edu 37 18 14511935 14511935 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr18:14511935C>T uc010dln.3 - 10 2045 c.1591G>A c.(1591-1593)Gaa>Aaa p.E531K POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 531 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GCAATTTCTTCCTGCAACATG 0.358000 15 4 0 0 0.000248 0 0 FAM113B 91523 broad.mit.edu 37 12 47629420 47629420 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:47629420G>A uc001rpq.3 + 1 1099 c.574G>A c.(574-576)Gaa>Aaa p.E192K FAM113B_uc001rpn.3_Missense_Mutation_p.E192K|FAM113B_uc021qxi.1_Missense_Mutation_p.E192K NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 192 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) CCTGAAAAACGAAGTGGTCAA 0.582000 48 6 0 0 0.001168 0 0 SEPT14 346288 broad.mit.edu 37 7 55874819 55874819 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:55874819C>T uc003tqz.2 - 7 1067 c.950G>A c.(949-951)gGc>gAc p.G317D NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN Homo sapiens septin 14 (SEPT14), mRNA. 317 cell cycle|cell division septin complex GTP binding|protein binding p.G317F(2)|p.G317V(2)|p.G106V(1)|p.G106F(1)|p.G317C(1) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ATCTGTAAAGCCCATTTTCTG 0.383000 72 9 0 0 0.004482 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813462 106813462 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr8:106813462C>T uc003ymd.3 + 7 1175 c.1152C>T c.(1150-1152)ctC>ctT p.L384L ZFPM2_uc011lhs.2_Silent_p.L115L NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 384 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ACCAGGAGCTCCATGTCCCTA 0.507000 57 8 0 0 0.003080 0 0 TRAM1L1 133022 broad.mit.edu 37 4 118006337 118006337 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:118006337G>A uc003ibv.4 - 0 400 c.213C>T c.(211-213)tcC>tcT p.S71S NM_152402 NP_689615 Q8N609 TR1L1_HUMAN Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA. 71 protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 AATAATAGAGGGACTTTGAGC 0.453000 38 6 0 0 0.001984 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74911402 74911402 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:74911402C>T uc001owb.3 + 10 2128 c.1733C>T c.(1732-1734)aCc>aTc p.T578I SLCO2B1_uc010rrq.2_Missense_Mutation_p.T323I|SLCO2B1_uc010rrr.2_Missense_Mutation_p.T434I|SLCO2B1_uc010rrs.2_Missense_Mutation_p.T462I|SLCO2B1_uc001owc.3_Missense_Mutation_p.T351I|SLCO2B1_uc001owd.3_Missense_Mutation_p.T556I NM_007256 NP_001138683 O94956 SO2B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA. 578 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) GCCTGTCTCACCCACACACCC 0.622000 154 28 0 0 0.002836 0 0 SYT15 83849 broad.mit.edu 37 10 46967552 46967552 + Silent SNP T C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr10:46967552T>C uc001jea.3 - 3 678 c.525A>G c.(523-525)caA>caG p.Q175Q SYT15_uc001jdz.2_Silent_p.Q175Q|SYT15_uc001jeb.3_Silent_p.Q53Q|SYT15_uc010qfp.1_Non-coding_Transcript NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA. 175 C2 1. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CCGAGGGGGCTTGCAGGTGCT 0.637000 147 10 0 0 0.006214 0 0 KANK4 163782 broad.mit.edu 37 1 62739414 62739414 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:62739414G>A uc001dah.4 - 2 1739 c.1362C>T c.(1360-1362)ctC>ctT p.L454L KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA. 454 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 GCCCCCATAGGAGGCCATTCT 0.567000 190 34 0 0 0.003271 0 0 CA6 765 broad.mit.edu 37 1 9019055 9019055 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:9019055C>T uc001apm.3 + 3 519 c.495C>T c.(493-495)ttC>ttT p.F165F CA6_uc009vmn.3_Silent_p.F105F NM_001215 NP_001206 P23280 CAH6_HUMAN Homo sapiens carbonic anhydrase VI (CA6), mRNA. 165 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding p.F165F(2) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) TGGCAGCCTTCGTTGAGGTAA 0.408000 106 24 0 0 0.003330 0 0 PIM1 5292 broad.mit.edu 37 6 37138792 37138792 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr6:37138792C>T uc003onk.3 + 2 655 c.225C>T c.(223-225)tcC>tcT p.S75S PIM1_uc011dtw.2_5'Flank NM_002648 NP_002639 P11309 PIM1_HUMAN Homo sapiens pim-1 oncogene (PIM1), transcript variant 1, mRNA. 166 cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding p.S75F(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) ACCGGATTTCCGACTGGGGAG 0.701000 T BCL6 NHL 141 24 0 0 0.004656 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 38489 38489 + Missense_Mutation SNP A T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrGL000209.1:38489A>T uc010yic.2 + 0 10 c.1A>T c.(1-3)Atg>Ttg p.M1L KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Missense_Mutation_p.M1L|KIR2DL2_uc002qty.3_Missense_Mutation_p.M1L NM_001083539 NP_001077008 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA. 4 regulation of immune response integral to membrane|plasma membrane receptor activity CATGTCGCTCATGGTCGTCAG 0.617000 50 4 0 0 0.000602 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147040888 147040888 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:147040888C>T uc010jgo.1 - 1 398 c.250G>A c.(250-252)Gag>Aag p.E84K JAKMIP2_uc003loq.1_Missense_Mutation_p.E84K|JAKMIP2_uc011dbx.1_Missense_Mutation_p.E42K|JAKMIP2_uc003lor.1_Missense_Mutation_p.E84K|LOC153469_uc003lop.1_3'UTR NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA. 84 Golgi apparatus p.E84G(1) NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTGCAGCTCCTTCATCTTC 0.537000 118 24 0 0 0.002780 0 0 DDX23 9416 broad.mit.edu 37 12 49237795 49237795 + Missense_Mutation SNP C A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:49237795C>A uc001rsm.3 - 2 339 c.248G>T c.(247-249)cGg>cTg p.R83L NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA. 83 Arg-rich. U5 snRNP|catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding p.R83L(2) NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 ATTCCGATCCCGCTCCTTATC 0.488000 316 6 0.000157383 0.000210476 0.003080 1 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032136 46032136 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr21:46032136C>T uc002zfo.1 + 0 141 c.119C>T c.(118-120)tCc>tTc p.S40F TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198695 NP_941968 P60410 KR108_HUMAN Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA. 40 19 X 5 AA repeats of C-C-X(3). keratin filament breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 17 ACTGGCTCCTCCTGGCAGGTG 0.642000 86 15 0 0 0.004007 0 0 HRNR 388697 broad.mit.edu 37 1 152188335 152188335 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:152188335C>T uc001ezt.1 - 2 5846 c.5770G>A c.(5770-5772)Ggt>Agt p.G1924S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 1924 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGCTGACCATAGCTGGAA 0.582000 886 32 0 0 0.004289 0 0 DSP 1832 broad.mit.edu 37 6 7568053 7568053 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr6:7568053G>A uc003mxp.1 + 9 1459 c.1180G>A c.(1180-1182)Ggg>Agg p.G394R DSP_uc003mxq.1_Missense_Mutation_p.G394R|DSP_uc021yle.1_Missense_Mutation_p.G394R NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 394 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 p.G394W(2) 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) ATACCTGAAGGGGCTCCAGGA 0.493000 21 10 0 0 0.006214 0 0 ITFG1 81533 broad.mit.edu 37 16 47189662 47189662 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr16:47189662C>T uc002eet.3 - 17 1866 c.1807G>A c.(1807-1809)Gaa>Aaa p.E603K ITFG1_uc010vgg.2_Missense_Mutation_p.E348K|ITFG1_uc010vgh.2_3'UTR NM_030790 NP_110417 Q8TB96 TIP_HUMAN Homo sapiens integrin alpha FG-GAP repeat containing 1 (ITFG1), mRNA. 603 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) CGGTGGGCTTCTTGTCGTTTT 0.333000 66 10 0 0 0.001368 0 0 ITGA2B 3674 broad.mit.edu 37 17 42451818 42451818 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:42451818C>T uc002igt.1 - 28 2996 c.2964G>A c.(2962-2964)cgG>cgA p.R988R ITGA2B_uc002igu.1_3'UTR NM_000419 NP_000410 P08514 ITA2B_HUMAN Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA. 988 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) CCTCCAAGGCCCGGAGCAGCT 0.607000 119 12 0 0 0.000978 0 0 F2RL2 2151 broad.mit.edu 37 5 75914172 75914172 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:75914172G>A uc003kem.3 - 1 545 c.360C>T c.(358-360)ttC>ttT p.F120F IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Silent_p.F98F NM_004101 NP_004092 O00254 PAR3_HUMAN Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA. 120 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) TGGTCCTGAAGAAAAGCATCC 0.453000 40 6 0 0 0.001168 0 0 KLC1 3831 broad.mit.edu 37 14 104123953 104123953 + Missense_Mutation SNP G T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr14:104123953G>T uc001yno.3 + 2 640 c.332G>T c.(331-333)cGt>cTt p.R111L KLC1_uc010tyd.1_Missense_Mutation_p.R270L|KLC1_uc010tye.1_Missense_Mutation_p.R107L|KLC1_uc001ynm.1_Missense_Mutation_p.R111L|KLC1_uc010tyf.2_Missense_Mutation_p.R111L NM_182923 NP_891553 Q07866 KLC1_HUMAN Homo sapiens kinesin light chain 1 (KLC1), transcript variant 2, mRNA. 111 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) GCGCAGGTTCGTCGTCTGTGC 0.537000 73 8 0.000274275 0.000366067 0.004482 1 0 CCNE2 9134 broad.mit.edu 37 8 95897774 95897774 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr8:95897774G>A uc003yhc.3 - 7 717 c.613C>T c.(613-615)Cct>Tct p.P205S CCNE2_uc003yhd.2_Missense_Mutation_p.P205S NM_057749 NP_477097 O96020 CCNE2_HUMAN Homo sapiens cyclin E2 (CCNE2), mRNA. 205 G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) TGGAGTTTAGGAGCATAGATT 0.313000 231 75 0 0 0.003610 0 0 POSTN 10631 broad.mit.edu 37 13 38137495 38137495 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr13:38137495C>T uc001uwo.4 - 22 2604 c.2486G>A c.(2485-2487)cGa>cAa p.R829Q POSTN_uc010tet.2_Missense_Mutation_p.R330Q|POSTN_uc001uwp.4_Missense_Mutation_p.R772Q|POSTN_uc001uwr.3_Missense_Mutation_p.R774Q|POSTN_uc001uwq.3_Missense_Mutation_p.R744Q NM_006475 NP_006466 Q15063 POSTN_HUMAN Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA. 829 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TTCCCTTAATCGTCTTCTAGA 0.303000 33 4 0 0 0.001168 0 0 TPP2 7174 broad.mit.edu 37 13 103279436 103279436 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr13:103279436C>T uc001vpi.4 + 6 962 c.859C>T c.(859-861)Cct>Tct p.P287S NM_003291 NP_003282 P29144 TPP2_HUMAN Homo sapiens tripeptidyl peptidase II (TPP2), mRNA. 287 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGGGGTAGCTCCTGGTGCTCA 0.463000 64 8 0 0 0.004482 0 0 MED13L 23389 broad.mit.edu 37 12 116422133 116422133 + Silent SNP A C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:116422133A>C uc001tvw.3 - 19 4438 c.4383T>G c.(4381-4383)cgT>cgG p.R1461R NM_015335 NP_056150 Q71F56 MD13L_HUMAN Homo sapiens mediator complex subunit 13-like (MED13L), mRNA. 1461 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent 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) TGATCCCGTCACGTAGCACTT 0.488000 18 3 0 0 0.000248 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51920492 51920492 + Missense_Mutation SNP G C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:51920492G>C uc002pwo.3 - 1 487 c.265C>G c.(265-267)Cga>Gga p.R89G SIGLEC10_uc002pwp.3_Missense_Mutation_p.R89G|SIGLEC10_uc021uyl.1_Missense_Mutation_p.R89G|SIGLEC10_uc002pwq.3_Missense_Mutation_p.R89G|SIGLEC10_uc010ycz.2_Missense_Mutation_p.R89G|SIGLEC10_uc002pws.2_Missense_Mutation_p.R89G|SIGLEC10_uc002pwr.3_Missense_Mutation_p.R89G|SIGLEC10_uc010ycy.2_Missense_Mutation_p.R89G|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_Non-coding_Transcript NM_033130 NP_149121 Q96LC7 SIG10_HUMAN Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA. 89 Ig-like V-type. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) AGCTGGAATCGGCCCCGGGTG 0.567000 106 16 0 0 0.004007 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 163322 163322 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:163322G>A uc003jak.2 + 10 2117 c.2067G>A c.(2065-2067)ggG>ggA p.G689G NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 689 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GCCTTCCAGGGGCAGGGGCCA 0.672000 30 6 0 0 0.001168 0 0 COL12A1 1303 broad.mit.edu 37 6 75797361 75797361 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr6:75797361G>A uc021zbv.1 - 63 9148 c.9113C>T c.(9112-9114)cCa>cTa p.P3038L COL12A1_uc021zbw.1_Missense_Mutation_p.P1874L|COL12A1_uc003phs.3_Missense_Mutation_p.P3038L|COL12A1_uc003pht.3_Missense_Mutation_p.P1874L NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 3038 Triple-helical region (COL1) with 2 imperfections. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AGGAGGACCTGGGGGTCCTCG 0.577000 153 19 0 0 0.001523 0 0 PSG4 5672 broad.mit.edu 37 19 43708311 43708311 + Missense_Mutation SNP G T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:43708311G>T uc002ovy.3 - 1 259 c.157C>A c.(157-159)Cta>Ata p.L53I PSG4_uc002ovz.3_Missense_Mutation_p.L53I|PSG4_uc002owb.3_Missense_Mutation_p.L53I NM_002780 NP_002771 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA. 53 Ig-like V-type. 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) TGGACAAGTAGAAGAACATCC 0.458000 210 24 9.57634e-11 1.29368e-10 0.003330 1 0 TRPC3 7222 broad.mit.edu 37 4 122831397 122831397 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:122831397C>T uc003ieg.2 - 5 1778 c.1704G>A c.(1702-1704)acG>acA p.T568T TRPC3_uc010inr.2_Silent_p.T440T|TRPC3_uc003ief.2_Silent_p.T495T|TRPC3_uc011cgl.1_Silent_p.T232T NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA. 483 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GTTGTGCCTTCGTTGCCTGAA 0.453000 25 4 0 0 0.000602 0 0 CACNA1H 8912 broad.mit.edu 37 16 1260873 1260873 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr16:1260873C>T uc002cks.3 + 20 4373 c.4125C>T c.(4123-4125)tcC>tcT p.S1375S CACNA1H_uc002ckt.3_Silent_p.S1375S|CACNA1H_uc002cku.3_Silent_p.S81S|CACNA1H_uc010brj.3_Silent_p.S81S|CACNA1H_uc002ckv.3_Silent_p.S81S NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 1375 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TGCTGGTGTCCCTGGTGGACA 0.682000 153 19 0 0 0.006122 0 0 ODZ1 10178 broad.mit.edu 37 X 123654524 123654524 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:123654524C>T uc010nqy.3 - 17 3208 c.3144G>A c.(3142-3144)acG>acA p.T1048T ODZ1_uc011muj.2_Silent_p.T1047T|ODZ1_uc004euj.3_Silent_p.T1048T NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 1048 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 CTACAGGAATCGTTGAATGTG 0.493000 20 9 0 0 0.000673 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153312963 153312963 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:153312963G>A uc001fbo.3 - 6 783 c.718C>T c.(718-720)Cac>Tac p.H240Y PGLYRP4_uc001fbp.3_Missense_Mutation_p.H236Y NM_020393 NP_065126 Q96LB8 PGRP4_HUMAN Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA. 240 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(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) CCGGCAGTGTGGATAATGATG 0.582000 25 12 0 0 0.000978 0 0 UBA7 7318 broad.mit.edu 37 3 49848190 49848190 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:49848190G>A uc003cxr.3 - 10 1477 c.1306C>T c.(1306-1308)Ctc>Ttc p.L436F NM_003335 NP_003326 P41226 UBA7_HUMAN Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA. 436 2 approximate repeats. ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CTCACCAGGAGGTAGTGCTGG 0.612000 134 10 0 0 0.000673 0 0 ADH1B 125 broad.mit.edu 37 4 100235078 100235078 + Missense_Mutation SNP T C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:100235078T>C uc003hus.4 - 5 812 c.728A>G c.(727-729)aAc>aGc p.N243S ADH1B_uc003hut.4_Missense_Mutation_p.N203S|ADH1B_uc011ceh.2_Missense_Mutation_p.N88S|ADH1B_uc011cei.1_Missense_Mutation_p.N203S NM_000668 NP_000659 P00325 ADH1B_HUMAN Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA. 243 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GTCTTGAGGGTTGATGCATTC 0.473000 155 19 0 0 0.003330 0 0 C1orf177 163747 broad.mit.edu 37 1 55271814 55271815 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:55271814_55271815GG>AA uc001cyb.4 + 0 79_80 c.25_26GG>AA c.(25-27)gga>AAa p.G9K C1orf177_uc001cya.4_Missense_Mutation_p.G9K NM_001110533 NP_001104003 Q3ZCV2 CA177_HUMAN Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA. 9 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 GGATGCCGCCGGAGCTCATGGC 0.723000 12 12 0 0 0.004672 0 0 PGS1 9489 broad.mit.edu 37 17 76396765 76396765 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:76396765C>T uc002jvm.3 + 5 721 c.709C>T c.(709-711)Ctg>Ttg p.L237L PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_Intron|PGS1_uc002jvo.3_Non-coding_Transcript|PGS1_uc002jvp.1_5'Flank NM_024419 NP_077733 Q32NB8 PGPS1_HUMAN Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA. 237 PLD phosphodiesterase 1. phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) TAGTGCAAACCTGAGTGACTC 0.602000 167 22 0 0 0.002299 0 0 FSD2 123722 broad.mit.edu 37 15 83455736 83455736 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr15:83455736C>T uc002bjd.2 - 1 574 c.407G>A c.(406-408)gGg>gAg p.G136E FSD2_uc010uol.1_Missense_Mutation_p.G136E|FSD2_uc010uom.1_Missense_Mutation_p.G136E NM_001007122 NP_001007123 A1L4K1 FSD2_HUMAN Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA. 136 breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 TGAGCCCCACCCTCCGAAGCC 0.592000 61 5 0 0 0.001168 0 0 FHOD1 29109 broad.mit.edu 37 16 67273330 67273330 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr16:67273330G>A uc002esl.3 - 1 341 c.229C>T c.(229-231)Ccc>Tcc p.P77S FHOD1_uc010ced.3_5'UTR|FHOD1_uc010vjh.1_5'UTR NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA. 77 GBD/FH3. 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) TATCCGGAGGGAGACACTTGC 0.567000 86 12 0 0 0.001368 0 0 PDZD2 23037 broad.mit.edu 37 5 32074434 32074434 + Nonsense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:32074434G>A uc003jhl.3 + 17 3610 c.3222G>A c.(3220-3222)tgG>tgA p.W1074* PDZD2_uc003jhm.3_Nonsense_Mutation_p.W1074*|PDZD2_uc011cnx.1_Nonsense_Mutation_p.W900* NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 1074 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 GAAGCTGGTGGAAGAAGGAAC 0.587000 124 21 0 0 0.003330 0 0 CSMD2 114784 broad.mit.edu 37 1 34034989 34034989 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:34034989C>T uc001bxm.1 - 51 8293 c.8116G>A c.(8116-8118)Gaa>Aaa p.E2706K CSMD2_uc001bxn.1_Missense_Mutation_p.E2708K NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2708 Sushi 17. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CAGCGGACTTCAGAGCCACTC 0.527000 49 5 0 0 0.000602 0 0 TAF1 6872 broad.mit.edu 37 X 70598119 70598119 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:70598119C>T uc004dzu.4 + 6 1016 c.965C>T c.(964-966)tCc>tTc p.S322F BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.S343F NM_138923 NP_620278 P21675 TAF1_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA. 322 Protein kinase 1. G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) TCCAAATTTTCCCAATCAACT 0.468000 35 4 0 0 0.000248 0 0 C12orf36 283422 broad.mit.edu 37 12 13529165 13529165 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:13529165G>A uc001rbs.2 - 1 427 c.175C>T c.(175-177)Ctg>Ttg p.L59L Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA. lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) cacctccacagcctctgagtc 0.498000 40 6 0 0 0.003080 0 0 PRKAA2 5563 broad.mit.edu 37 1 57173220 57173220 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:57173220C>T uc001cyk.4 + 8 1564 c.1493C>T c.(1492-1494)cCa>cTa p.P498L NM_006252 NP_006243 P54646 AAPK2_HUMAN Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA. 498 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 TTACACAGACCAAGATCAAGT 0.473000 68 7 0 0 0.001984 0 0 WBSCR17 64409 broad.mit.edu 37 7 70881033 70881033 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:70881033G>A uc003tvy.3 + 3 748 c.748G>A c.(748-750)Gaa>Aaa p.E250K WBSCR17_uc003tvz.3_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 250 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TGCCCACGTGGAATTCACCGC 0.567000 43 8 0 0 0.003080 0 0 LMNB2 84823 broad.mit.edu 37 19 2433919 2433919 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:2433919G>A uc002lvy.3 - 7 1414 c.1327C>T c.(1327-1329)Cac>Tac p.H443Y NM_032737 NP_116126 Q03252 LMNB2_HUMAN Homo sapiens lamin B2 (LMNB2), mRNA. 443 Tail. LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979). nuclear inner membrane structural molecule activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 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) TGGGCCAGGTGGAAGCCACCG 0.677000 389 45 0 0 0.003214 0 0 ARAP1 116985 broad.mit.edu 37 11 72424253 72424253 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:72424253G>A uc001osu.3 - 4 904 c.715C>T c.(715-717)Ccg>Tcg p.P239S ARAP1_uc001osv.3_Missense_Mutation_p.P239S|ARAP1_uc001osr.3_5'UTR|ARAP1_uc001oss.3_5'UTR|ARAP1_uc009yth.3_5'UTR|ARAP1_uc010rre.2_5'UTR NM_001040118 NP_056057 Q96P48 ARAP1_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA. 239 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction Golgi cisterna membrane|cytosol|plasma membrane ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 GGGGCCCCCGGCCCCTCCTCT 0.667000 262 21 0 0 0.002299 0 0 INPP5D 3635 broad.mit.edu 37 2 234078776 234078776 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:234078776G>A uc010zmo.2 + 13 1823 c.1670G>A c.(1669-1671)gGg>gAg p.G557E INPP5D_uc010zmp.2_Missense_Mutation_p.G556E NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 586 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) TTCTGGTTTGGGGATCTTAAC 0.557000 66 8 0 0 0.003080 0 0 TCFL5 10732 broad.mit.edu 37 20 61485473 61485473 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr20:61485473G>A uc002ydp.3 - 4 1368 c.1275C>T c.(1273-1275)ctC>ctT p.L425L TCFL5_uc002ydo.3_Silent_p.L198L|TCFL5_uc002ydq.3_Silent_p.L424L NM_006602 NP_006593 Q9UL49 TCFL5_HUMAN Homo sapiens transcription factor-like 5 (basic helix-loop-helix) (TCFL5), mRNA. 425 Helix-loop-helix motif. cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1) 9 Breast(26;5.68e-08) ACGGCACTAAGAGATTCAACT 0.463000 68 6 0 0 0.001168 0 0 ZNF23 7571 broad.mit.edu 37 16 71482269 71482269 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr16:71482269G>A uc002faf.3 - 5 2473 c.1659C>T c.(1657-1659)atC>atT p.I553I ZNF23_uc002fah.3_Silent_p.I553I|ZNF23_uc002fad.3_Silent_p.I495I|ZNF23_uc010vmf.2_Silent_p.I495I|ZNF23_uc002fag.3_Silent_p.I495I|ZNF23_uc002fai.3_Silent_p.I592I NM_145911 NP_666016 P17027 ZNF23_HUMAN Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA. 553 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1) 29 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) CTCCTGTATGGATTCTCTGGT 0.433000 38 5 0 0 0.000602 0 0 FAM83G 644815 broad.mit.edu 37 17 18881077 18881077 + Silent SNP T A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:18881077T>A uc002guw.3 - 4 2069 c.1902A>T c.(1900-1902)tcA>tcT p.S634S SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA. 634 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 CCACTTGCTCTGAGTGGCGCC 0.667000 58 10 0 0 0.000673 0 0 VSTM1 284415 broad.mit.edu 37 19 54561969 54561969 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:54561969C>T uc002qcw.4 - 1 228 c.52G>A c.(52-54)Gaa>Aaa p.E18K VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_5'UTR|VSTM1_uc002qcx.4_Missense_Mutation_p.E18K|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Intron NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA. 18 integral to membrane p.E18K(2) 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) TTCTCATCTTCGTAGCCCAGA 0.403000 69 13 0 0 0.001368 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43808517 43808517 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr21:43808517G>A uc002zbb.2 - 4 642 c.441C>T c.(439-441)ttC>ttT p.F147F TMPRSS3_uc002zaz.2_Silent_p.F20F|TMPRSS3_uc002zba.2_Silent_p.F20F|TMPRSS3_uc002zbc.2_Silent_p.F147F|TMPRSS3_uc002zbd.3_Silent_p.F147F NM_024022 NP_076927 P57727 TMPS3_HUMAN Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA. 147 SRCR. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 CTTACCTTGGGAAACCCAGTT 0.483000 81 13 0 0 0.001855 0 0 REST 5978 broad.mit.edu 37 4 57797292 57797293 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:57797292_57797293CC>TT uc003hch.3 + 3 2615_2616 c.2268_2269CC>TT c.(2266-2271)gtccag>gtTTag p.Q757* REST_uc003hci.3_Nonsense_Mutation_p.Q757*|REST_uc010ihf.3_Nonsense_Mutation_p.Q431* NM_005612 NP_005603 Q13127 REST_HUMAN Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA. 757 Pro-rich. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding p.M753_P768delMEVVQKEPVKIELSPP(2) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) TGGAGGTGGTCCAGAAGGAACC 0.550000 247 37 0 0 0.004672 0 0 MAN2C1 4123 broad.mit.edu 37 15 75654998 75654998 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr15:75654998G>A uc002bah.3 - 6 899 c.882C>T c.(880-882)atC>atT p.I294I MAN2C1_uc010bkk.3_Intron|MAN2C1_uc002baf.3_Silent_p.I294I|MAN2C1_uc002bag.3_Silent_p.I294I|MAN2C1_uc010umi.1_Silent_p.I76I|MAN2C1_uc010umj.1_Non-coding_Transcript Q9NTJ4 MA2C1_HUMAN Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA. 294 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 AGCAGGCAAAGATGAACTCAG 0.632000 59 8 0 0 0.003080 0 0 HTR1A 3350 broad.mit.edu 37 5 63257242 63257242 + Nonsense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:63257242C>T uc011cqt.2 - 0 305 c.305G>A c.(304-306)tGg>tAg p.W102* NM_000524 NP_000515 P08908 5HT1A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA. 102 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GCCCAGTGTCCACTTGTTGAG 0.587000 29 6 0 0 0.001168 0 0 PRKAA2 5563 broad.mit.edu 37 1 57169911 57169911 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:57169911G>A uc001cyk.4 + 6 1127 c.1056G>A c.(1054-1056)atG>atA p.M352I NM_006252 NP_006243 P54646 AAPK2_HUMAN Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA. 352 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 GTTCTTTTATGGATGATAGTG 0.468000 51 18 0 0 0.006122 0 0 OR6T1 219874 broad.mit.edu 37 11 123814138 123814138 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:123814138C>T uc010sab.2 - 0 408 c.408G>A c.(406-408)atG>atA p.M136I NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA. 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L135P(1) 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) CATGGCCATTCATCAGGGTCT 0.552000 18 4 0 0 0.000602 0 0 SDS 10993 broad.mit.edu 37 12 113835157 113835157 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:113835157G>A uc001tvg.3 - 5 588 c.466C>T c.(466-468)Ctg>Ttg p.L156L SDS_uc001tvh.1_Silent_p.L156L NM_006843 NP_006834 P20132 SDHL_HUMAN Homo sapiens serine dehydratase (SDS), mRNA. 156 L-serine catabolic process|gluconeogenesis|pyruvate biosynthetic process cytoplasm L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1) 11 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TTTTCCCACAGTGTCTCCTTC 0.677000 82 14 0 0 0.002450 0 0 SPRR1A 6698 broad.mit.edu 37 1 152957746 152957746 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:152957746C>T uc021ozn.1 + 0 40 c.40C>T c.(40-42)Cct>Tct p.P14S SPRR1A_uc009wnu.2_Missense_Mutation_p.P14S|SPRR1A_uc001faw.3_Missense_Mutation_p.P14S NM_005987 NP_005978 P35321 SPR1A_HUMAN Homo sapiens small proline-rich protein 1A (SPRR1A), transcript variant 2, mRNA. 14 2 X 12 AA approximate repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1) 7 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) CACCCCACCCCCTCAGCCTCA 0.517000 69 15 0 0 0.004007 0 0 WSCD2 9671 broad.mit.edu 37 12 108618519 108618519 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:108618519G>A uc001tms.3 + 4 1430 c.686G>A c.(685-687)gGa>gAa p.G229E WSCD2_uc001tmt.3_Missense_Mutation_p.G229E|WSCD2_uc001tmu.3_5'UTR NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN Homo sapiens WSC domain containing 2 (WSCD2), mRNA. 229 integral to membrane p.G229V(2) breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 TCTTCAGATGGAAGTGCAGTG 0.522000 59 9 0 0 0.006214 0 0 KTN1 3895 broad.mit.edu 37 14 56084684 56084684 + Missense_Mutation SNP T C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr14:56084684T>C uc001xcb.3 + 4 966 c.664T>C c.(664-666)Ttc>Ctc p.F222L KTN1_uc001xcc.3_Missense_Mutation_p.F222L|KTN1_uc001xcd.3_Missense_Mutation_p.F222L|KTN1_uc001xce.3_Missense_Mutation_p.F222L|KTN1_uc010trb.2_Missense_Mutation_p.F222L|KTN1_uc001xcf.1_Missense_Mutation_p.F222L NM_182926 NP_891556 Q86UP2 KTN1_HUMAN Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA. 222 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 AATTGCAGTCTTCGTAGATGA 0.313000 T RET papillary thryoid 20 3 0 0 0.004672 0 0 DHX40 79665 broad.mit.edu 37 17 57648001 57648001 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:57648001C>T uc002ixn.2 + 2 550 c.403C>T c.(403-405)Cgt>Tgt p.R135C DHX40_uc010woe.2_Intron|DHX40_uc002ixo.1_Missense_Mutation_p.R36C NM_024612 NP_078888 Q8IX18 DHX40_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA. 135 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(7)|large_intestine(6)|lung(6)|prostate(1) 20 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) ATACCAAGTTCGTTTTGATGA 0.428000 54 5 0 0 0.000602 0 0 KCNA5 3741 broad.mit.edu 37 12 5153890 5153890 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:5153890C>T uc001qni.3 + 0 806 c.577C>T c.(577-579)Ctg>Ttg p.L193L NM_002234 NP_002225 P22460 KCNA5_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA. 193 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 CAACGTCTCCCTGGACGTGTT 0.617000 76 15 0 0 0.004007 0 0 TRIM14 9830 broad.mit.edu 37 9 100862240 100862240 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr9:100862240C>T uc004ayd.2 - 2 528 c.510G>A c.(508-510)caG>caA p.Q170Q TRIM14_uc004ayg.1_Silent_p.Q170Q|TRIM14_uc004ayh.1_Silent_p.Q170Q NM_033220 NP_150089 Q14142 TRI14_HUMAN Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA. 170 cytoplasm|intracellular zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(62;0.0559) GATCGGGCTCCTGGCTGATAC 0.532000 50 11 0 0 0.000978 0 0 CDH18 1016 broad.mit.edu 37 5 19747249 19747249 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:19747249C>T uc003jgd.3 - 3 859 c.325G>A c.(325-327)Gat>Aat p.D109N CDH18_uc011cnm.2_Missense_Mutation_p.D109N|CDH18_uc003jgc.3_Missense_Mutation_p.D109N|CDH18_uc021xwu.1_Missense_Mutation_p.D109N NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 109 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) GAGTGGATATCACCCGTGGTA 0.448000 81 12 0 0 0.001368 0 0 DHRS2 10202 broad.mit.edu 37 14 24108421 24108421 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr14:24108421G>A uc001wkt.4 + 2 621 c.174G>A c.(172-174)cgG>cgA p.R58R DHRS2_uc010aku.1_Silent_p.R58R|DHRS2_uc001wku.4_Silent_p.R58R|DHRS2_uc010akv.3_Non-coding_Transcript NM_182908 NP_878912 Q13268 DHRS2_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA. 36 L -> V (in Ref. 6; AA sequence). C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) GTCTGGCCCGGGACGGGGCCC 0.642000 175 36 0 0 0.004878 0 0 FGR 2268 broad.mit.edu 37 1 27943740 27943740 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:27943740C>T uc001boj.3 - 3 642 c.496G>A c.(496-498)Ggg>Agg p.G166R FGR_uc001boi.3_5'Flank|FGR_uc001bok.3_Missense_Mutation_p.G166R|FGR_uc001bol.3_Missense_Mutation_p.G166R|FGR_uc001bom.3_Missense_Mutation_p.G166R NM_005248 NP_005239 P09769 FGR_HUMAN Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA. 166 SH2. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AGAAAGGCCCCCTGGGGGTTG 0.602000 95 14 0 0 0.002450 0 0 F11 2160 broad.mit.edu 37 4 187192920 187192920 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:187192920C>T uc003iza.1 + 2 546 c.213C>T c.(211-213)acC>acT p.T71T F11_uc003iyz.3_Silent_p.T71T NM_000128 NP_000119 P03951 FA11_HUMAN Homo sapiens coagulation factor XI (F11), mRNA. 71 Apple 1. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) AGGATCCCACCCGATGGTAAA 0.408000 57 5 0 0 0.000602 0 0 PRDM4 11108 broad.mit.edu 37 12 108147758 108147759 + Silent DNP GG AA AA TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:108147758_108147759GG>AA uc001tmp.3 - 3 710_711 c.273_274CC>TT c.(271-276)acccta>acTTta p.91_92TL>TL PRDM4_uc001tmq.3_Non-coding_Transcript NM_012406 NP_036538 Q9UKN5 PRDM4_HUMAN Homo sapiens PR domain containing 4 (PRDM4), mRNA. 91 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 GGTGGAGGTAGGGTGTAGTTTC 0.480000 58 8 0 0 0.004672 0 0 ZFP42 132625 broad.mit.edu 37 4 188924669 188924669 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:188924669C>T uc003izh.1 + 3 1116 c.708C>T c.(706-708)ttC>ttT p.F236F ZFP42_uc003izi.1_Silent_p.F236F|ZFP42_uc021xvm.1_Silent_p.F236F NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA. 236 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.H235N(1) 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) AGAGACATTTCCTGGTTCATA 0.512000 59 10 0 0 0.006214 0 0 PRR5L 79899 broad.mit.edu 37 11 36472831 36472831 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:36472831C>T uc001mwo.4 + 7 1047 c.658C>T c.(658-660)Cct>Tct p.P220S PRR5L_uc001mwp.3_Missense_Mutation_p.P220S|PRR5L_uc009ykk.3_Missense_Mutation_p.P92S|PRR5L_uc010rfc.2_Intron NM_001160167 NP_079117 Q6MZQ0 PRR5L_HUMAN Homo sapiens proline rich 5 like (PRR5L), transcript variant 1, mRNA. 220 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 AGTGGTTTCTCCTTTCCTCGG 0.532000 59 13 0 0 0.001855 0 0 KLC1 3831 broad.mit.edu 37 14 104123955 104123955 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr14:104123955C>T uc001yno.3 + 2 642 c.334C>T c.(334-336)Cgt>Tgt p.R112C KLC1_uc010tyd.1_Missense_Mutation_p.R271C|KLC1_uc010tye.1_Missense_Mutation_p.R108C|KLC1_uc001ynm.1_Missense_Mutation_p.R112C|KLC1_uc010tyf.2_Missense_Mutation_p.R112C NM_182923 NP_891553 Q07866 KLC1_HUMAN Homo sapiens kinesin light chain 1 (KLC1), transcript variant 2, mRNA. 112 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) GCAGGTTCGTCGTCTGTGCCA 0.532000 75 8 0 0 0.004482 0 0 CD5L 922 broad.mit.edu 37 1 157803059 157803059 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:157803059G>A uc001frk.4 - 4 1105 c.962C>T c.(961-963)tCc>tTc p.S321F NM_005894 NP_005885 O43866 CD5L_HUMAN Homo sapiens CD5 molecule-like (CD5L), mRNA. 321 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CTGCTCCAGGGACTGCTCCTC 0.572000 75 7 0 0 0.001984 0 0 UGT3A1 133688 broad.mit.edu 37 5 35955811 35955811 + Missense_Mutation SNP G A A rs141143848 byFrequency TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:35955811G>A uc003jjv.2 - 5 1424 c.1231C>T c.(1231-1233)Cgg>Tgg p.R411W UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.R411W|UGT3A1_uc011cor.2_Missense_Mutation_p.R377W NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 411 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGATTCAACCGGATAGAGACA 0.483000 93 11 0 0 0.000978 0 0 GDF5OS 554250 broad.mit.edu 37 20 34021881 34021881 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr20:34021881C>T uc002xcj.3 + 1 367 c.292C>T c.(292-294)Cgt>Tgt p.R98C GDF5_uc010gfc.1_Silent_p.T444T|GDF5_uc002xck.1_Silent_p.T444T Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds. cervix(1)|endometrium(4)|lung(4) 9 CTGCATGATTCGTGGGCTCCA 0.612000 56 12 0 0 0.000978 0 0 ITGAL 3683 broad.mit.edu 37 16 30490500 30490500 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr16:30490500C>T uc002dyi.4 + 4 592 c.416C>T c.(415-417)cCc>cTc p.P139L ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Intron|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. 139 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) CTGCAGGGTCCCATGCTGCAG 0.547000 78 11 0 0 0.002450 0 0 MUC16 94025 broad.mit.edu 37 19 9073638 9073638 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:9073638C>T uc002mkp.3 - 2 14012 c.13808G>A c.(13807-13809)cGa>cAa p.R4603Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4605 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.R4603Q(5)|p.R236Q(2)|p.G4602G(1)|p.R4603*(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 GTTCTCTTTTCGTCCAGCAGT 0.502000 11 4 0 0 0.000602 0 0 PAX4 5078 broad.mit.edu 37 7 127253886 127253886 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:127253886G>A uc010lld.1 - 3 668 c.462C>T c.(460-462)ccC>ccT p.P154P PAX4_uc003vmf.2_Silent_p.P152P|PAX4_uc003vmg.1_Silent_p.P154P|PAX4_uc003vmh.3_Silent_p.P152P NM_006193 NP_006184 O43316 PAX4_HUMAN Homo sapiens paired box 4 (PAX4), mRNA. 162 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GGGTACCCCGGGGAGTCTCAG 0.572000 62 23 0 0 0.002780 0 0 TTPAL 79183 broad.mit.edu 37 20 43108650 43108650 + Missense_Mutation SNP A C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr20:43108650A>C uc002xmc.1 + 2 135 c.11A>C c.(10-12)gAa>gCa p.E4A TTPAL_uc002xmd.1_Missense_Mutation_p.E4A|TTPAL_uc010ggr.1_5'UTR NM_024331 NP_077307 Q9BTX7 TTPAL_HUMAN Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA. 4 intracellular transporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5) 18 ATGTCCGAAGAAAGTGACTCT 0.507000 61 12 0 0 0.003163 0 0 DVL2 1856 broad.mit.edu 37 17 7130544 7130544 + Missense_Mutation SNP G C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:7130544G>C uc002gez.1 - 12 1690 c.1408C>G c.(1408-1410)Cct>Gct p.P470A DVL2_uc010vtr.1_Missense_Mutation_p.P464A NM_004422 NP_004413 O14641 DVL2_HUMAN Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA. 470 DEP. canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 CGCCGCTCAGGAAAGCCCTCC 0.577000 125 12 0 0 0.004007 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820805 35820805 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:35820805G>A uc010ngt.1 + 1 771 c.492G>A c.(490-492)atG>atA p.M164I MAGEB16_uc022bus.1_Missense_Mutation_p.M164I NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA. 164 MAGE. breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 ACCTAGAGATGATATTTGGCC 0.468000 61 6 0 0 0.001168 0 0 ST18 9705 broad.mit.edu 37 8 53085133 53085133 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr8:53085133C>T uc003xqz.2 - 4 444 c.288G>A c.(286-288)atG>atA p.M96I ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.M61I|ST18_uc011lds.1_Missense_Mutation_p.M1I|ST18_uc003xra.2_Missense_Mutation_p.M96I|ST18_uc003xrb.2_Missense_Mutation_p.M96I NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 96 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) TAGGTTTTATCATGATTTCCT 0.318000 26 4 0 0 0.000602 0 0 KCTD13 253980 broad.mit.edu 37 16 29922374 29922374 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr16:29922374G>A uc002duv.3 - 4 869 c.678C>T c.(676-678)ttC>ttT p.F226F BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc021tge.1_Non-coding_Transcript NM_178863 NP_849194 Q8WZ19 BACD1_HUMAN Homo sapiens potassium channel tetramerisation domain containing 13 (KCTD13), mRNA. 226 DNA replication|cell migration|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 7 CCTGCCCGTAGAAAGACCAGC 0.577000 77 8 0 0 0.003080 0 0 OSMR 9180 broad.mit.edu 37 5 38933161 38933161 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:38933161C>T uc003jln.2 + 17 2957 c.2555C>T c.(2554-2556)cCc>cTc p.P852L OSMR_uc011cpj.2_Missense_Mutation_p.P56L NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 852 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GGCCCTGGCCCCTGCATCTGT 0.493000 102 25 0 0 0.004656 0 0 ZBTB40 9923 broad.mit.edu 37 1 22837755 22837755 + Silent SNP G A A rs140676819 byFrequency TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:22837755G>A uc001bft.2 + 10 2428 c.1917G>A c.(1915-1917)ccG>ccA p.P639P ZBTB40_uc001bfu.2_Silent_p.P639P|ZBTB40_uc009vqi.1_Silent_p.P527P|ZBTB40_uc001bfv.1_Silent_p.P268P NM_001083621 NP_055685 Q9NUA8 ZBT40_HUMAN Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA. 639 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) AATCAGTCCCGGCCATTGAAA 0.517000 42 10 0 0 0.006214 0 0 NPAS4 266743 broad.mit.edu 37 11 66191061 66191061 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:66191061G>A uc001ohx.1 + 5 997 c.821G>A c.(820-822)gGa>gAa p.G274E NPAS4_uc010rpc.1_Missense_Mutation_p.G64E NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA. 274 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 GCTGAGAGTGGAGATATTCAG 0.522000 85 9 0 0 0.000978 0 0 NOTCH4 4855 broad.mit.edu 37 6 32190333 32190334 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr6:32190333_32190334GG>AA uc003obb.3 - 2 544_545 c.405_406CC>TT c.(403-408)atccag>atTTag p.Q136* NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Nonsense_Mutation_p.Q136* NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 136 EGF-like 3. 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 CCCGAGGCCTGGATGTGGCAGC 0.634000 475 63 0 0 0.004672 0 0 FRAS1 80144 broad.mit.edu 37 4 79301095 79301095 + Missense_Mutation SNP T G G TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:79301095T>G uc003hlb.2 + 26 3948 c.3508T>G c.(3508-3510)Tgg>Ggg p.W1170G FRAS1_uc003hkw.3_Missense_Mutation_p.W1170G NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 1169 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 CCGTTTTAGCTGGAAAGATGT 0.453000 39 7 0 0 0.003080 0 0 ADH1C 126 broad.mit.edu 37 4 100261809 100261809 + RNA SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:100261809G>A uc021xqi.1 - 6 c.972C>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) GGAATCAGGAGGTACCCCTAC 0.468000 70 9 0 0 0.000673 0 0 RAD1 5810 broad.mit.edu 37 5 34911751 34911751 + Silent SNP C A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:34911751C>A uc003jix.3 - 3 803 c.474G>T c.(472-474)ctG>ctT p.L158L RAD1_uc003jiw.3_Silent_p.L49L|RAD1_uc003jiy.3_Silent_p.L158L NM_002853 NP_002844 O60671 RAD1_HUMAN Homo sapiens RAD1 homolog (S. pombe) (RAD1), transcript variant 1, mRNA. 158 DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I nucleoplasm 3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1) 10 all_lung(31;0.000107) Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) CCTCTGACTGCAGAATAATTT 0.423000 Other conserved DNA damage response genes 81 11 2.27111e-07 3.05568e-07 0.001368 1 0 ELOVL6 79071 broad.mit.edu 37 4 110972501 110972501 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:110972501G>A uc003hzz.3 - 4 917 c.791C>T c.(790-792)gCt>gTt p.A264V ELOVL6_uc003iaa.3_Missense_Mutation_p.A264V NM_001130721 NP_076995 Q9H5J4 ELOV6_HUMAN Homo sapiens ELOVL fatty acid elongase 6 (ELOVL6), transcript variant 2, mRNA. 264 fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process fatty acid elongase activity|protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(123;0.00462) ACACTATTCAGCTTTCGTTGT 0.438000 25 3 0 0 0.004672 0 0 KRT16P2 400578 broad.mit.edu 37 17 16734763 16734763 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:16734763G>A uc010vwr.1 - 2 812 c.370C>T c.(370-372)Ctg>Ttg p.L124L Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA. TCCTCCTTCAGGCCTTCCATC 0.632000 70 6 0 0 0.004482 0 0 TRPM5 29850 broad.mit.edu 37 11 2439807 2439807 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:2439807C>T uc010qxl.2 - 4 673 c.664G>A c.(664-666)Gag>Aag p.E222K TRPM5_uc001lwm.4_Missense_Mutation_p.E222K|TRPM5_uc009ydn.3_Missense_Mutation_p.E224K NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA. 222 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) ACAGGGATCTCGATGCTGCCA 0.642000 286 40 0 0 0.002222 0 0 YIPF3 25844 broad.mit.edu 37 6 43483726 43483726 + Missense_Mutation SNP G T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr6:43483726G>T uc003ovl.2 - 1 372 c.189C>A c.(187-189)gaC>gaA p.D63E YIPF3_uc011dvk.2_Missense_Mutation_p.D28E|POLR1C_uc003ovn.3_5'Flank|POLR1C_uc003ovo.2_5'Flank NM_015388 NP_056203 Q9GZM5 YIPF3_HUMAN Homo sapiens Yip1 domain family, member 3 (YIPF3), mRNA. 63 cell differentiation integral to membrane|plasma membrane|transport vesicle large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) CTGCATCAGCGTCTACTTCTT 0.562000 114 14 3.35478e-16 4.55047e-16 0.003163 1 0 OR52M1 119772 broad.mit.edu 37 11 4566953 4566953 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:4566953C>T uc010qyf.2 + 0 533 c.533C>T c.(532-534)tCc>tTc p.S178F NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA. 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CATGTTATCTCCCACTCCTAC 0.527000 34 6 0 0 0.001984 0 0 CYP2C19 1557 broad.mit.edu 37 10 96541630 96541630 + Missense_Mutation SNP A G G TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr10:96541630A>G uc010qnz.2 + 4 695 c.695A>G c.(694-696)aAa>aGa p.K232R CYP2C19_uc009xus.1_Missense_Mutation_p.K97R|CYP2C19_uc010qny.2_Missense_Mutation_p.K210R NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 232 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 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) ACCCATAACAAATTACTTAAA 0.299000 10 3 0 0 0.000248 0 0 TKT 7086 broad.mit.edu 37 3 53263300 53263300 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:53263300G>A uc003dgo.3 - 8 1432 c.1260C>T c.(1258-1260)tcC>tcT p.S420S TKT_uc003dgp.2_Silent_p.S52S|TKT_uc011beo.1_Silent_p.S373S|TKT_uc003dgq.3_Silent_p.S420S|TKT_uc011beq.2_Silent_p.S428S|TKT_uc011ber.2_Silent_p.S222S NM_001135055 NP_001128527 P29401 TKT_HUMAN Homo sapiens transketolase (TKT), transcript variant 2, mRNA. 420 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) ACTCACCGATGGAAACGCCGC 0.587000 37 8 0 0 0.003080 0 0 THADA 63892 broad.mit.edu 37 2 43519316 43519317 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:43519316_43519317GG>AA uc002rsw.4 - 32 5215_5216 c.4863_4864CC>TT c.(4861-4866)ccccag>ccTTag p.Q1622* THADA_uc010far.3_Nonsense_Mutation_p.Q817*|THADA_uc002rsx.4_Nonsense_Mutation_p.Q1622*|THADA_uc002rsy.4_Non-coding_Transcript NM_001083953 NP_071348 Q6YHU6 THADA_HUMAN Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA. 1622 binding p.Q1622H(1) 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) TGCTCCGTCTGGGGAAGCCACT 0.475000 385 28 0 0 0.004672 0 0 NHSL2 340527 broad.mit.edu 37 X 71360043 71360043 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:71360043C>T uc011mqa.2 + 5 2645 c.2645C>T c.(2644-2646)cCa>cTa p.P882L NHSL2_uc004eak.1_Missense_Mutation_p.P516L|NHSL2_uc010nli.2_Missense_Mutation_p.P651L NM_001013627 NP_001013649 F5H593 F5H593_HUMAN Homo sapiens NHS-like 2 (NHSL2), mRNA. 882 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) CGGAGGCCTCCAAGCTTGGTC 0.552000 39 4 0 0 0.000248 0 0 MDN1 23195 broad.mit.edu 37 6 90402272 90402272 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr6:90402272G>A uc003pnn.1 - 62 10593 c.10477C>T c.(10477-10479)Ccc>Tcc p.P3493S NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 3493 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.P3493H(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCCCGAGTGGGACAGGCTTTC 0.577000 39 6 0 0 0.001168 0 0 PTPRM 5797 broad.mit.edu 37 18 8376576 8376576 + Missense_Mutation SNP T G G TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr18:8376576T>G uc002knn.4 + 23 3907 c.3404T>G c.(3403-3405)gTg>gGg p.V1135G PTPRM_uc010dkv.3_Missense_Mutation_p.V1148G|PTPRM_uc010wzl.2_Missense_Mutation_p.V922G NM_002845 NP_002836 P28827 PTPRM_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA. 1135 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) TCACGGAGGGTGAACATGGTG 0.572000 59 10 0 0 0.006214 0 0 TDRD5 163589 broad.mit.edu 37 1 179609005 179609005 + Nonsense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:179609005C>T uc010pnp.2 + 9 2070 c.1552C>T c.(1552-1554)Cga>Tga p.R518* TDRD5_uc021pfm.1_Nonsense_Mutation_p.R518*|TDRD5_uc001gnf.2_Nonsense_Mutation_p.R518*|TDRD5_uc021pfn.1_Nonsense_Mutation_p.R518*|TDRD5_uc001gnh.2_Nonsense_Mutation_p.R73* NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 518 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 GGTTTCTGATCGATATGTCAT 0.383000 83 10 0 0 0.000978 0 0 GAK 2580 broad.mit.edu 37 4 860181 860181 + Missense_Mutation SNP G T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:860181G>T uc003gbm.4 - 21 3213 c.3014C>A c.(3013-3015)cCa>cAa p.P1005Q GAK_uc003gbn.4_Missense_Mutation_p.P926Q|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.P858Q NM_005255 NP_005246 O14976 GAK_HUMAN Homo sapiens cyclin G associated kinase (GAK), mRNA. 1005 cell cycle Golgi apparatus|focal adhesion|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) GCTGCAGGATGGGGGCGGAGC 0.632000 103 10 1.08611e-07 1.46427e-07 0.000978 1 0 WNT3A 89780 broad.mit.edu 37 1 228238562 228238562 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:228238562G>A uc001hrp.2 + 2 626 c.519G>A c.(517-519)cgG>cgA p.R173R WNT3A_uc001hrq.2_Silent_p.R173R NM_033131 NP_149122 P56704 WNT3A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA. 173 Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) CCGACGCCCGGGAGAACCGGC 0.662000 48 5 0 0 0.001168 0 0 COL4A6 1288 broad.mit.edu 37 X 107554042 107554042 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:107554042C>T uc004enw.4 - 2 186 c.83G>A c.(82-84)gGa>gAa p.G28E COL4A6_uc004env.4_Missense_Mutation_p.G27E|COL4A6_uc011msn.2_Missense_Mutation_p.G27E|COL4A6_uc010npk.3_Missense_Mutation_p.G27E|COL4A6_uc004enx.2_Non-coding_Transcript|COL4A6_uc004eny.2_Non-coding_Transcript NM_001847 NP_001838 Q14031 CO4A6_HUMAN Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA. 28 7S domain. 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 ACATGGCTTTCCATAAGACTT 0.413000 Alport syndrome with Diffuse Leiomyomatosis 57 6 0 0 0.003080 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454713 84454713 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr13:84454713C>T uc001vlk.3 - 0 1816 c.930G>A c.(928-930)aaG>aaA p.K310K NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA. 310 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TGCCTGGGATCTTTGTACCTC 0.537000 71 14 0 0 0.001855 0 0 KCNB2 9312 broad.mit.edu 37 8 73480025 73480026 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr8:73480025_73480026CC>TT uc003xzb.3 + 1 644_645 c.56_57CC>TT c.(55-57)tcc>tTT p.S19F NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 19 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) TCGACACTTTCCCTTCCTCCAG 0.520000 30 8 0 0 0.004672 0 0 APOB 338 broad.mit.edu 37 2 21228131 21228131 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:21228131G>A uc002red.3 - 25 11737 c.11609C>T c.(11608-11610)tCt>tTt p.S3870F NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3870 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 p.F3869F(1) 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) AGCAGGTACAGAGAACTTAAT 0.473000 141 20 0 0 0.001216 0 0 EOMES 8320 broad.mit.edu 37 3 27761806 27761806 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:27761806G>A uc003cdy.3 - 1 892 c.892C>T c.(892-894)Cct>Tct p.P298S EOMES_uc003cdx.3_Missense_Mutation_p.P298S|EOMES_uc010hfn.2_Missense_Mutation_p.P298S|EOMES_uc011axc.1_Missense_Mutation_p.P3S NM_005442 NP_005433 O95936 EOMES_HUMAN Homo sapiens eomesodermin (EOMES), mRNA. 298 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 CTCAAGAAAGGAAACATGCGC 0.537000 151 17 0 0 0.004990 0 0 NEK3 4752 broad.mit.edu 37 13 52728269 52728269 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr13:52728269G>A uc001vgh.3 - 1 1451 c.220C>T c.(220-222)Ctt>Ttt p.L74F NEK3_uc001vgi.3_Missense_Mutation_p.L53F|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Missense_Mutation_p.L53F NM_001146099 NP_001139571 P51956 NEK3_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA. 53 Interaction with VAV2.|Protein kinase. cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2) 18 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) TTGGCTAAAAGAACAGCCTCC 0.299000 22 4 0 0 0.000602 0 0 GGTLC2 91227 broad.mit.edu 37 22 22989317 22989317 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr22:22989317G>A uc010gts.2 + 1 304 c.270G>A c.(268-270)ggG>ggA p.G90G abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gtt.2_Silent_p.G90G NM_199127 NP_954578 Q14390 GGTL2_HUMAN Homo sapiens gamma-glutamyltransferase light chain 2 (GGTLC2), transcript variant 1, mRNA. 90 glutathione biosynthetic process gamma-glutamyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 11 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23) READ - Rectum adenocarcinoma(21;0.145) ACGAGTTTGGGGTGCCCCCCT 0.612000 170 20 0 0 0.003330 0 0 CALCA 796 broad.mit.edu 37 11 14992730 14992730 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:14992730G>A uc001mlv.1 - 1 60 c.9C>T c.(7-9)ttC>ttT p.F3F CALCA_uc001mlt.2_Silent_p.F3F|CALCA_uc001mlu.2_Non-coding_Transcript|CALCA_uc001mlw.1_Silent_p.F3F NM_001741 NP_001732 P06881 CALCA_HUMAN Homo sapiens calcitonin-related polypeptide alpha (CALCA), transcript variant 1, mRNA. 3 activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation cytosol|extracellular space hormone activity central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 8 Phentolamine(DB00692) AGAACTTTTGGAAGCCCATGA 0.542000 68 8 0 0 0.006214 0 0 CD200R1L 344807 broad.mit.edu 37 3 112546213 112546213 + Splice_Site SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:112546213C>T uc003dzi.1 - 3 656 c.430_splice c.e3+1 p.V144_splice CD200R1L_uc010hqf.1_Splice_Site_p.V123_splice|CD200R1L_uc011bhw.1_Splice_Site_p.V123_splice NM_001008784 NP_001186144 Q6Q8B3 MO2R2_HUMAN Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA. 144 Ig-like C2-type. integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 ATGCTCCTTACCTAACACTTG 0.428000 40 5 0 0 0.000602 0 0 LLGL2 3993 broad.mit.edu 37 17 73569591 73569591 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:73569591G>A uc002joh.3 + 20 2909 c.2755G>A c.(2755-2757)Gag>Aag p.E919K LLGL2_uc002joi.3_Missense_Mutation_p.E919K|LLGL2_uc010dgg.2_Missense_Mutation_p.E919K|LLGL2_uc002joj.3_Missense_Mutation_p.E908K|LLGL2_uc010wsd.2_Missense_Mutation_p.E546K NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA. 919 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CTCGGAGTTTGAGCGCTTCTC 0.642000 188 22 0 0 0.003954 0 0 CLDN18 51208 broad.mit.edu 37 3 137742645 137742645 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:137742645G>A uc003ero.1 + 1 419 c.366G>A c.(364-366)ggG>ggA p.G122G CLDN18_uc003erp.1_Silent_p.G122G|CLDN18_uc010hue.1_Missense_Mutation_p.D118N NM_001002026 NP_001002026 P56856 CLD18_HUMAN Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA. 122 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 6 TGACCTCCGGGATCATGTTCA 0.493000 35 6 0 0 0.006214 0 0 ASH1L 55870 broad.mit.edu 37 1 155348300 155348300 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:155348300G>A uc009wqq.3 - 8 6712 c.6232C>T c.(6232-6234)Cgt>Tgt p.R2078C ASH1L_uc001fkt.3_Missense_Mutation_p.R2073C NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA. 2078 DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|chromosome|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.Y2077Y(1)|p.R2073C(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TCACTTGAACGAATTTTCTTA 0.343000 35 6 0 0 0.001168 0 0 TRPM6 140803 broad.mit.edu 37 9 77448962 77448962 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr9:77448962G>A uc004ajl.1 - 5 859 c.621C>T c.(619-621)atC>atT p.I207I TRPM6_uc004ajk.1_Silent_p.I202I|TRPM6_uc022bib.1_Silent_p.I202I|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.I207I|TRPM6_uc010mpd.1_Silent_p.I207I|TRPM6_uc010mpe.1_Silent_p.I207I|TRPM6_uc004ajn.1_Silent_p.I207I NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 207 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.G206G(1) 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 CCCAAGGAGGGATTCCAACTG 0.423000 40 6 0 0 0.001984 0 0 UGT3A2 167127 broad.mit.edu 37 5 36035968 36035968 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:36035968C>T uc003jjz.2 - 6 1536 c.1404G>A c.(1402-1404)gcG>gcA p.A468A UGT3A2_uc011cos.2_Silent_p.A434A|UGT3A2_uc011cot.2_Silent_p.A166A NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA. 468 integral to membrane glucuronosyltransferase activity p.A468T(1) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGAGGTGCGTCGCGCCCCCTG 0.637000 44 6 0 0 0.001168 0 0 OR8H3 390152 broad.mit.edu 37 11 55890093 55890093 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:55890093C>T uc001nii.1 + 0 245 c.245C>T c.(244-246)aCc>aTc p.T82I NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA. 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) ACACCTAAAACCTTAGCGAAC 0.433000 90 11 0 0 0.003163 0 0 GDF2 2658 broad.mit.edu 37 10 48416570 48416570 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr10:48416570C>T uc001jfa.1 - 0 284 c.124G>A c.(124-126)Ggg>Agg p.G42R NM_016204 NP_057288 Q9UK05 GDF2_HUMAN Homo sapiens growth differentiation factor 2 (GDF2), mRNA. 42 BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 CCAGGCACCCCCAGTGGGCTG 0.637000 39 7 0 0 0.001984 0 0 C15orf2 23742 broad.mit.edu 37 15 24922056 24922056 + Nonsense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr15:24922056C>T uc001ywo.3 + 0 1516 c.1042C>T c.(1042-1044)Cga>Tga p.R348* NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 348 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis p.R348L(1) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GCTGTGGGATCGAGGTGAGCT 0.567000 63 11 0 0 0.000673 0 0 MYO19 80179 broad.mit.edu 37 17 34856791 34856791 + Silent SNP A C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:34856791A>C uc010wcy.2 - 23 3248 c.2256T>G c.(2254-2256)ctT>ctG p.L752L MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Silent_p.L552L NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA. 752 mitochondrial outer membrane|myosin complex ATP binding|actin binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CACATTCCAGAAGCTCCAGCT 0.657000 30 5 0 0 0.001168 0 0 CASZ1 54897 broad.mit.edu 37 1 10707917 10707917 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:10707917C>T uc001aro.3 - 15 3758 c.3438G>A c.(3436-3438)acG>acA p.T1146T CASZ1_uc001arp.1_Silent_p.T1146T NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA. 1146 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CTAGAGAAGTCGTTGCCAAGG 0.642000 146 12 0 0 0.001855 0 0 MUC16 94025 broad.mit.edu 37 19 9063015 9063015 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:9063015C>T uc002mkp.3 - 2 24635 c.24431G>A c.(24430-24432)gGa>gAa p.G8144E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8146 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 AGTGGGCACTCCAGAAAGGAC 0.542000 22 4 0 0 0.000248 0 0 RBM10 8241 broad.mit.edu 37 X 47035967 47035967 + Missense_Mutation SNP G C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:47035967G>C uc004dhi.3 + 6 1069 c.840G>C c.(838-840)gaG>gaC p.E280D RBM10_uc004dhe.2_3'UTR|RBM10_uc004dhf.3_Missense_Mutation_p.E215D|RBM10_uc004dhh.3_Missense_Mutation_p.E215D|RBM10_uc010nhq.3_Missense_Mutation_p.E138D|RBM10_uc004dhg.3_Missense_Mutation_p.E138D NM_001204468 NP_001191397 P98175 RBM10_HUMAN Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA. 215 RNA splicing|mRNA processing chromatin remodeling complex RNA binding|nucleotide binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 AGATCAATGAGGACTGGCTGT 0.577000 82 17 0 0 0.006122 0 0 DUOX2 50506 broad.mit.edu 37 15 45387730 45387730 + Silent SNP A G G TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr15:45387730A>G uc001zun.3 - 30 4347 c.4144T>C c.(4144-4146)Ttg>Ctg p.L1382L DUOX2_uc010bea.3_Silent_p.L1382L NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 1382 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CCTCCCACCAACACTGACACC 0.547000 82 14 0 0 0.002450 0 0 SYNPO2 171024 broad.mit.edu 37 4 119952318 119952318 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:119952318C>T uc010inb.3 + 3 2584 c.2388C>T c.(2386-2388)aaC>aaT p.N796N SYNPO2_uc010ina.3_Silent_p.N796N|SYNPO2_uc003icm.4_Silent_p.N796N|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Silent_p.N724N|SYNPO2_uc021xrd.1_5'Flank NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 796 Pro-rich. Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCACATCCAACCCATCAAAGG 0.567000 52 7 0 0 0.001984 0 0 ADAM33 80332 broad.mit.edu 37 20 3652877 3652877 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr20:3652877G>A uc002wit.3 - 13 1588 c.1501C>T c.(1501-1503)Cta>Tta p.L501L ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Silent_p.L501L|ADAM33_uc002wis.3_Silent_p.L23L|ADAM33_uc002wiu.3_Silent_p.L501L|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA. 501 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 CCGTCCAGTAGGTAAACGTCT 0.662000 139 16 0 0 0.006122 0 0 ZNF174 7727 broad.mit.edu 37 16 3454462 3454462 + Nonsense_Mutation SNP G T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr16:3454462G>T uc002cvc.3 + 1 1254 c.439G>T c.(439-441)Gag>Tag p.E147* ZNF174_uc002cva.2_Nonsense_Mutation_p.E147*|ZNF174_uc002cvb.3_Nonsense_Mutation_p.E147* NM_003450 NP_003441 Q15697 ZN174_HUMAN Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA. 147 negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 GGTGCTCTTGGAGAAAACTGG 0.522000 248 22 2.50493e-22 3.40466e-22 0.004656 1 0 PLD2 5338 broad.mit.edu 37 17 4722096 4722096 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:4722096C>T uc002fzc.3 + 20 2277 c.2151C>T c.(2149-2151)atC>atT p.I717I PLD2_uc002fzd.3_Silent_p.I717I NM_002663 NP_002654 O14939 PLD2_HUMAN Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA. 717 Catalytic. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) AGTATTCAATCCTGCATCGCC 0.637000 145 14 0 0 0.007413 0 0 PEX5 5830 broad.mit.edu 37 12 7361078 7361078 + Nonsense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:7361078C>T uc009zfu.2 + 13 1787 c.1207C>T c.(1207-1209)Cag>Tag p.Q403* PEX5_uc001qsw.3_Nonsense_Mutation_p.Q403*|PEX5_uc010sgc.2_Nonsense_Mutation_p.Q418*|PEX5_uc001qsu.3_Nonsense_Mutation_p.Q366*|PEX5_uc010sgd.2_Nonsense_Mutation_p.Q424*|PEX5_uc001qsv.3_Nonsense_Mutation_p.Q395* NM_001131026 NP_001124498 P50542 PEX5_HUMAN Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA. 403 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 breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 GCCAGATAACCAGACAGCACT 0.552000 30 7 0 0 0.004482 0 0 TDRD5 163589 broad.mit.edu 37 1 179603594 179603594 + Nonsense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:179603594C>T uc010pnp.2 + 7 1647 c.1129C>T c.(1129-1131)Cag>Tag p.Q377* TDRD5_uc021pfm.1_Nonsense_Mutation_p.Q377*|TDRD5_uc001gnf.2_Nonsense_Mutation_p.Q377*|TDRD5_uc021pfn.1_Nonsense_Mutation_p.Q377*|TDRD5_uc001gnh.2_5'UTR NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 377 Lotus/OST-HTH 3. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 GTGTTTAGTTCAGTCAGATAA 0.383000 48 7 0 0 0.001984 0 0 FAT2 2196 broad.mit.edu 37 5 150947448 150947448 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:150947448C>T uc003lue.4 - 0 1058 c.1045G>A c.(1045-1047)Ggc>Agc p.G349S FAT2_uc010jhx.1_Missense_Mutation_p.G349S NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 349 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) AGGTGAAAGCCCCTGATCTGG 0.522000 99 16 0 0 0.004007 0 0 ILDR1 286676 broad.mit.edu 37 3 121712524 121712524 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:121712524G>A uc003ees.3 - 6 1275 c.1072C>T c.(1072-1074)Ccc>Tcc p.P358S ILDR1_uc003eeq.3_Missense_Mutation_p.P326S|ILDR1_uc003eer.3_Missense_Mutation_p.P314S|ILDR1_uc010hrg.3_Missense_Mutation_p.P269S NM_001199799 NP_001186728 Q86SU0 ILDR1_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA. 358 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) GGCCTGGAGGGAATTGGGGTG 0.602000 56 11 0 0 0.001368 0 0 DEFB118 117285 broad.mit.edu 37 20 29956462 29956462 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr20:29956462C>T uc002wvr.3 + 0 42 c.9C>T c.(7-9)ctC>ctT p.L3L NM_054112 NP_473453 Q96PH6 DB118_HUMAN Homo sapiens defensin, beta 118 (DEFB118), mRNA. 3 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CCATGAAACTCCTGCTGCTGG 0.493000 86 9 0 0 0.006214 0 0 CAMK1G 57172 broad.mit.edu 37 1 209785234 209785234 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:209785234C>T uc001hhd.3 + 10 1115 c.1013C>T c.(1012-1014)cCt>cTt p.P338L CAMK1G_uc001hhf.4_Missense_Mutation_p.P338L|CAMK1G_uc001hhe.3_Missense_Mutation_p.P338L NM_020439 NP_065172 Q96NX5 KCC1G_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA. 338 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) AACAGGCCGCCTGAAACTCAA 0.602000 109 63 0 0 0.003610 0 0 NLRP7 199713 broad.mit.edu 37 19 55451638 55451638 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:55451638C>T uc002qih.4 - 3 625 c.549G>A c.(547-549)ggG>ggA p.G183G NLRP7_uc010esk.3_Silent_p.G183G|NLRP7_uc002qig.4_Silent_p.G183G|NLRP7_uc002qii.4_Silent_p.G183G|NLRP7_uc010esl.3_Silent_p.G211G NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 183 NACHT. ATP binding p.V182M(1) 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) GCGTGGTTTTCCCCACGCCTG 0.562000 143 20 0 0 0.007413 0 0 ANK1 286 broad.mit.edu 37 8 41547811 41547811 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr8:41547811C>T uc003xok.3 - 32 4122 c.4038G>A c.(4036-4038)gcG>gcA p.A1346A NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.A662A|ANK1_uc003xoi.3_Silent_p.A1346A|ANK1_uc003xoj.3_Silent_p.A1346A|ANK1_uc003xol.3_Silent_p.A1346A|ANK1_uc003xom.3_Silent_p.A1387A NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 1346 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.A1346A(2) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CGTACTTCATCGCCTTGCGCA 0.597000 119 14 0 0 0.001855 0 0 RASAL3 64926 broad.mit.edu 37 19 15562672 15562672 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:15562672C>T uc002nbe.2 - 17 3056 c.2970G>A c.(2968-2970)agG>agA p.R990R WIZ_uc002nbb.4_5'Flank|RASAL3_uc002nbd.3_3'UTR NM_022904 NP_075055 Q86YV0 RASL3_HUMAN Homo sapiens RAS protein activator like 3 (RASAL3), mRNA. 990 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 ACCCCCGCGTCCTTGGAGAAA 0.612000 112 19 0 0 0.007413 0 0 PSG5 5673 broad.mit.edu 37 19 43689221 43689221 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:43689221C>T uc002ovu.3 - 1 274 c.143G>A c.(142-144)gGg>gAg p.G48E PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.G48E NM_002781 NP_002772 Q15238 PSG5_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA. 48 Ig-like V-type. female pregnancy extracellular region 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) AACATCCTTCCCCTCGGAAAC 0.463000 167 33 0 0 0.002096 0 0 PADI4 23569 broad.mit.edu 37 1 17657608 17657608 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:17657608G>A uc001baj.2 + 1 265 c.237G>A c.(235-237)acG>acA p.T79T PADI4_uc009vpc.2_Silent_p.T79T NM_012387 NP_036519 Q9UM07 PADI4_HUMAN Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA. 79 T -> M (in dbSNP:rs35809521). chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) TGACCCTGACGATGAAAGTGG 0.602000 43 4 0 0 0.000248 0 0 PREX2 80243 broad.mit.edu 37 8 69033271 69033271 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr8:69033271G>A uc003xxv.1 + 29 3738 c.3711G>A c.(3709-3711)agG>agA p.R1237R NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 1237 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding p.R1237R(2) 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 AGAACATCAGGAAATTTGTTG 0.403000 23 3 0 0 0.004672 0 0 B3GAT3 26229 broad.mit.edu 37 11 62384617 62384617 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:62384617G>A uc001ntw.3 - 2 688 c.460C>T c.(460-462)Cat>Tat p.H154Y B3GAT3_uc001ntx.3_Non-coding_Transcript|B3GAT3_uc009ynz.3_Missense_Mutation_p.H147Y|B3GAT3_uc010rlz.2_Missense_Mutation_p.H154Y NM_012200 NP_036332 O94766 B3GA3_HUMAN Homo sapiens beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) (B3GAT3), mRNA. 154 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1) 12 CCACGGGGATGAACCCAGCCA 0.687000 60 9 0 0 0.000673 0 0 CDCA7 83879 broad.mit.edu 37 2 174224214 174224214 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:174224214G>A uc002uic.1 + 2 510 c.379G>A c.(379-381)Gga>Aga p.G127R CDCA7_uc002uid.1_Intron|CDCA7_uc010zej.1_Missense_Mutation_p.G83R|CDCA7_uc010zek.1_Intron NM_031942 NP_114148 Q9BWT1 CDCA7_HUMAN Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA. 48 regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) GATACAAGATGGAATGGTGAG 0.373000 47 8 0 0 0.003080 0 0 COX5B 1329 broad.mit.edu 37 2 98264520 98264521 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:98264520_98264521CC>TT uc002sya.3 + 3 368_369 c.339_340CC>TT c.(337-342)tgcccc>tgTTcc p.P114S NM_001862 NP_001853 P10606 COX5B_HUMAN Homo sapiens cytochrome c oxidase subunit Vb (COX5B), nuclear gene encoding mitochondrial protein, mRNA. 114 respiratory electron transport chain|respiratory gaseous exchange mitochondrial inner membrane cytochrome-c oxidase activity|metal ion binding endometrium(1)|lung(1)|urinary_tract(1) 3 CCCAGCGATGCCCCCGCTGTGG 0.510000 47 9 0 0 0.004672 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48898778 48898778 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:48898778C>T uc002rwp.2 + 9 3514 c.3400C>T c.(3400-3402)Ctg>Ttg p.L1134L STON1-GTF2A1L_uc021vhf.1_Silent_p.L1134L|STON1-GTF2A1L_uc010yol.2_Silent_p.L1087L|STON1-GTF2A1L_uc002rws.2_Silent_p.L430L|STON1-GTF2A1L_uc010yom.2_Silent_p.L396L NM_172311 NP_758515 B7ZL16 B7ZL16_HUMAN Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA. 1087 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGTGCCAGACCTGTTTGACAC 0.338000 67 14 0 0 0.004007 0 0 LILRB1 10859 broad.mit.edu 37 19 55148324 55148324 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:55148324C>T uc002qgj.3 + 15 2288 c.1948C>T c.(1948-1950)Cac>Tac p.H650Y LILRB1_uc002qgl.3_Missense_Mutation_p.H651Y|LILRB1_uc002qgk.3_Missense_Mutation_p.H651Y|LILRB1_uc002qgm.3_Missense_Mutation_p.H652Y|LILRB1_uc010erq.3_Missense_Mutation_p.H634Y|LILRB1_uc010err.3_Non-coding_Transcript NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA. 650 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TCTGGCCATCCACTAGCCCAG 0.647000 HNSCC(37;0.09) 46 9 0 0 0.000978 0 0 ABCB5 340273 broad.mit.edu 37 7 20721180 20721180 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:20721180G>A uc010kuh.3 + 14 1997 c.1760G>A c.(1759-1761)cGa>cAa p.R587Q ABCB5_uc003suw.4_Missense_Mutation_p.R142Q NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 142 ABC transporter 2. regulation of membrane potential Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity p.R142Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TCTACTATTCGAAGTGCAGAT 0.403000 46 9 0 0 0.004482 0 0 NRK 203447 broad.mit.edu 37 X 105168906 105168906 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:105168906C>T uc004emd.3 + 18 3498 c.3195C>T c.(3193-3195)gtC>gtT p.V1065V NRK_uc010npc.1_Silent_p.V733V NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 1065 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 GTAAGGGAGTCGTTCGAACCA 0.507000 HNSCC(51;0.14) 12 3 0 0 0.004672 0 0 SNX9 51429 broad.mit.edu 37 6 158349733 158349733 + Splice_Site SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr6:158349733C>T uc003qqv.1 + 12 1461 c.1288_splice c.e12+1 p.P430_splice NM_016224 NP_057308 Q9Y5X1 SNX9_HUMAN Homo sapiens sorting nexin 9 (SNX9), mRNA. 430 BAR. cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) GCTGCACGGGCCGTAAGTCCA 0.592000 7 3 0 0 0.004672 0 0 SETMAR 6419 broad.mit.edu 37 3 4355407 4355407 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:4355407C>T uc011asp.2 + 1 1049 c.982C>T c.(982-984)Cct>Tct p.P328S SUMF1_uc003bps.2_Intron|SETMAR_uc003bpw.4_Missense_Mutation_p.P315S|SETMAR_uc011asq.2_Missense_Mutation_p.P189S|SETMAR_uc003bpy.4_Missense_Mutation_p.P50S|SETMAR_uc011asr.2_Missense_Mutation_p.P72S|SETMAR_uc010hbx.3_Missense_Mutation_p.P123S NM_006515 NP_006506 Q53H47 SETMR_HUMAN Homo sapiens SET domain and mariner transposase fusion gene (SETMAR), transcript variant 1, mRNA. 315 Histone-lysine N-methyltransferase. DNA integration|DNA repair|transposition, DNA-mediated chromosome|nucleus DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Melanoma(143;0.0657) Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114) TGGCTCAGCCCCTTCTGTGTT 0.512000 Chromatin Structure 25 4 0 0 0.000602 0 0 MICAL3 57553 broad.mit.edu 37 22 18347693 18347693 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr22:18347693G>A uc002zng.4 - 18 2930 c.2577C>T c.(2575-2577)gcC>gcT p.A859A MICAL3_uc011agl.2_Silent_p.A859A|MICAL3_uc002znh.2_Silent_p.A859A|MICAL3_uc002znj.1_Silent_p.A587A|MICAL3_uc002znk.1_Silent_p.A859A|MICAL3_uc002znl.1_Silent_p.A492A|MICAL3_uc002znm.3_Silent_p.A360A|MICAL3_uc010grf.3_Silent_p.A983A NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA. 859 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) AGCTGGCCACGGCGTTGGCCC 0.587000 121 15 0 0 0.007413 0 0 LCTL 197021 broad.mit.edu 37 15 66856293 66856293 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr15:66856293C>T uc002aqc.3 - 2 458 c.326G>A c.(325-327)cGa>cAa p.R109Q LCTL_uc002aqd.4_5'UTR|LCTL_uc010bhw.3_5'UTR NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN Homo sapiens lactase-like (LCTL), mRNA. 109 carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CAGGGAGAATCGGTAGTGGTT 0.622000 92 10 0 0 0.001368 0 0 SMARCD1 6602 broad.mit.edu 37 12 50480090 50480090 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:50480090C>T uc001rvx.4 + 1 494 c.324C>T c.(322-324)atC>atT p.I108I SMARCD1_uc010smo.1_Silent_p.I108I|SMARCD1_uc001rvy.4_Silent_p.I108I|SMARCD1_uc009zlp.3_Silent_p.I108I NM_003076 NP_003067 Q96GM5 SMRD1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 (SMARCD1), transcript variant 1, mRNA. 108 Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4. chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm protein complex scaffold|transcription coactivator activity NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 18 CTCAGCAGATCCAGCAGGTCC 0.632000 66 6 0 0 0.001984 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793308 65793308 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:65793308G>A uc001ogt.3 - 0 681 c.543C>T c.(541-543)ccC>ccT p.P181P NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA. 181 His-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 TGGGTCCATGGGGGAGGTAGG 0.592000 88 14 0 0 0.002450 0 0 HCRTR1 3061 broad.mit.edu 37 1 32084967 32084967 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:32084967C>T uc009vtx.2 + 2 559 c.174C>T c.(172-174)gtC>gtT p.V58V HCRTR1_uc001btc.4_Missense_Mutation_p.S32L|HCRTR1_uc001btd.2_Silent_p.V58V|HCRTR1_uc010ogl.2_Silent_p.V58V NM_001525 NP_001516 O43613 OX1R_HUMAN Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA. 58 feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 7 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) CTGTGTTCGTCGTGGCCCTGG 0.587000 138 14 0 0 0.001855 0 0 KIRREL 55243 broad.mit.edu 37 1 158059518 158059518 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:158059518C>T uc001frn.4 + 9 1586 c.1182C>T c.(1180-1182)atC>atT p.I394I KIRREL_uc010pib.2_Silent_p.I294I|KIRREL_uc009wsq.3_Silent_p.I230I|KIRREL_uc001fro.4_Silent_p.I208I NM_018240 NP_060710 Q96J84 KIRR1_HUMAN Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA. 394 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) GGCCCCCCATCATCTCCAGTG 0.597000 127 18 0 0 0.001523 0 0 SRGAP3 9901 broad.mit.edu 37 3 9066956 9066956 + Missense_Mutation SNP G A A rs146672079 TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:9066956G>A uc003brf.1 - 13 2343 c.1667C>T c.(1666-1668)tCc>tTc p.S556F SRGAP3_uc003brg.1_Missense_Mutation_p.S532F|SRGAP3_uc003bri.1_Non-coding_Transcript NM_014850 NP_055665 O43295 SRGP2_HUMAN Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA. 556 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding p.S556F(2) SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TCTCTCAAAGGAATTTTTGAT 0.478000 T RAF1 pilocytic astrocytoma 39 6 0 0 0.001984 0 0 TECTA 7007 broad.mit.edu 37 11 121016712 121016712 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:121016712C>T uc010rzo.2 + 10 3992 c.3992C>T c.(3991-3993)tCt>tTt p.S1331F NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 1331 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CTGTTTGACTCTTGCATCGAT 0.572000 155 18 0 0 0.001523 0 0 FCAR 2204 broad.mit.edu 37 19 55396884 55396884 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:55396884G>A uc002qhr.1 + 2 505 c.308G>A c.(307-309)aGg>aAg p.R103K FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.R103K|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Missense_Mutation_p.R76K|FCAR_uc010esi.1_Missense_Mutation_p.R76K|FCAR_uc002qhu.1_Missense_Mutation_p.R103K|FCAR_uc002qhv.1_Missense_Mutation_p.R103K|FCAR_uc002qhw.1_Missense_Mutation_p.R91K|FCAR_uc002qhx.1_Missense_Mutation_p.R91K|FCAR_uc002qhy.1_Missense_Mutation_p.R91K|FCAR_uc002qhz.1_Missense_Mutation_p.R91K|FCAR_uc002qia.1_Intron NM_002000 NP_001991 P24071 FCAR_HUMAN Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA. 103 Ig-like C2-type 1. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) TGCCAATATAGGATAGGGCAC 0.488000 69 14 0 0 0.002450 0 0 RNASEL 6041 broad.mit.edu 37 1 182554562 182554562 + Missense_Mutation SNP A T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:182554562A>T uc009wxz.2 - 1 1637 c.1380T>A c.(1378-1380)ttT>ttA p.F460L RNASEL_uc001gpk.3_Missense_Mutation_p.F460L|RNASEL_uc009wya.1_Missense_Mutation_p.F460L NM_021133 NP_066956 Q05823 RN5A_HUMAN Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA. 460 Protein kinase. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 CATTTCGGGCAAATTCATCTT 0.463000 38 7 0 0 0.001984 0 0 BPIFB6 128859 broad.mit.edu 37 20 31620862 31620862 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr20:31620862G>A uc010zuc.2 + 1 170 c.170G>A c.(169-171)gGg>gAg p.G57E BPIFB6_uc010zud.2_5'UTR NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA. 57 extracellular region lipid binding AAACAGCCAGGGATGAAACCT 0.562000 84 14 0 0 0.003163 0 0 RBP3 5949 broad.mit.edu 37 10 48388910 48388910 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr10:48388910G>A uc001jez.3 - 0 2082 c.1968C>T c.(1966-1968)gtC>gtT p.V656V NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 656 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) TCTGCCCCACGACCTCTGGCC 0.662000 27 4 0 0 0.000248 0 0 SEH1L 81929 broad.mit.edu 37 18 12984128 12984128 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr18:12984128C>T uc002krq.3 + 7 1147 c.1009C>T c.(1009-1011)Cct>Tct p.P337S SEH1L_uc002krr.3_Missense_Mutation_p.P337S NM_001013437 NP_001013455 Q96EE3 SEH1_HUMAN Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA. 337 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|condensed chromosome kinetochore|cytosol central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 AACCTCAAATCCTTCCCTAGG 0.413000 77 20 0 0 0.001216 0 0 CD1E 913 broad.mit.edu 37 1 158323802 158323802 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:158323802C>T uc001fse.3 + 0 317 c.24C>T c.(22-24)ttC>ttT p.F8F CD1E_uc010pid.2_Intron|CD1E_uc010pie.2_Silent_p.F8F|CD1E_uc001fsh.3_Silent_p.F8F|CD1E_uc001fry.3_Silent_p.F8F|CD1E_uc001fsf.3_Silent_p.F8F|CD1E_uc001fsg.3_Silent_p.F8F|CD1E_uc009wsv.3_Silent_p.F8F|CD1E_uc001fsj.3_Silent_p.F8F|CD1E_uc001fsk.3_Silent_p.F8F|CD1E_uc001fsa.3_Silent_p.F8F|CD1E_uc001fsd.3_Silent_p.F8F|CD1E_uc001frz.3_Silent_p.F8F|CD1E_uc010pig.2_Silent_p.F8F|CD1E_uc001fsc.3_Silent_p.F8F|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA. 8 antigen processing and presentation|immune response Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen p.F8L(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) TCCTCCTCTTCGAGGGTCTCT 0.522000 53 7 0 0 0.006214 0 0 NPHS1 4868 broad.mit.edu 37 19 36332637 36332637 + Missense_Mutation SNP T C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:36332637T>C uc002oby.3 - 19 2951 c.2795A>G c.(2794-2796)aAc>aGc p.N932S NPHS1_uc010eem.1_5'Flank NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 932 Ig-like C2-type 8. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGTTGAATGTTGGTTTGGTC 0.597000 73 20 0 0 0.003330 0 0 CADPS 8618 broad.mit.edu 37 3 62385086 62385086 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:62385086C>T uc003dll.2 - 29 4417 c.4057G>A c.(4057-4059)Gat>Aat p.D1353N CADPS_uc003dlj.1_Missense_Mutation_p.D308N|CADPS_uc003dlk.1_Missense_Mutation_p.D801N|CADPS_uc003dlm.2_Missense_Mutation_p.D1314N|CADPS_uc003dln.2_Missense_Mutation_p.D1274N|CADPS_uc021wzv.1_Missense_Mutation_p.D1344N NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA. 1353 Mediates targeting and association with DCVs (By similarity). exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) ATGGTCTAATCGTCTTCTTCG 0.488000 22 5 0 0 0.000602 0 0 FAM75E1 286234 broad.mit.edu 37 9 90503330 90503330 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr9:90503330G>A uc004app.4 + 3 3963 c.3928G>A c.(3928-3930)Gac>Aac p.D1310N NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA. 1310 integral to membrane GCAGTTTATGGACTGCATGGC 0.577000 29 6 0 0 0.001984 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320203 79320203 + Silent SNP C T T rs150789659 by1000genomes TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr9:79320203C>T uc010mpk.3 - 7 7111 c.6987G>A c.(6985-6987)ccG>ccA p.P2329P PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Silent_p.P2151P NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 2329 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTGGCGTTTCCGGATGGCCTT 0.478000 23 9 0 0 0.004482 0 0 ANKRD32 84250 broad.mit.edu 37 5 94022323 94022323 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:94022323C>T uc003kkr.4 + 15 2101 c.2021C>T c.(2020-2022)tCc>tTc p.S674F ANKRD32_uc003kks.3_Missense_Mutation_p.S38F NM_032290 NP_115666 Q9BQI6 ANR32_HUMAN Homo sapiens ankyrin repeat domain 32 (ANKRD32), mRNA. 674 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) TCCTTTTCCTCCTCCTGGCTT 0.373000 141 9 0 0 0.000673 0 0 GPR128 84873 broad.mit.edu 37 3 100364864 100364864 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:100364864C>T uc003duc.3 + 8 1290 c.1022C>T c.(1021-1023)tCg>tTg p.S341L GPR128_uc011bhc.2_Missense_Mutation_p.S42L NM_032787 NP_116176 Q96K78 GP128_HUMAN Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA. 341 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 ACAGCTAAATCGGATTTTAGT 0.333000 23 6 0 0 0.001168 0 0 PNMA5 114824 broad.mit.edu 37 X 152159672 152159672 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:152159672C>T uc022chn.1 - 0 471 c.471G>A c.(469-471)agG>agA p.R157R PNMA5_uc010ntx.3_Silent_p.R157R|PNMA5_uc010ntw.3_Silent_p.R157R|PNMA5_uc004fgy.4_Silent_p.R157R|PNMA5_uc022chm.1_Silent_p.R157R NM_052926 NP_443158 Q96PV4 PNMA5_HUMAN Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA. 157 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) CTTTCAGTTTCCTGTACCACA 0.527000 248 30 0 0 0.007291 0 0 ACAN 176 broad.mit.edu 37 15 89401744 89401744 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr15:89401744G>A uc010upo.1 + 11 6302 c.5928G>A c.(5926-5928)ggG>ggA p.G1976G ACAN_uc010upp.1_Silent_p.G1976G|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 1976 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) ACATGTCTGGGGAGCATTCTG 0.537000 44 11 0 0 0.000978 0 0 LAMA3 3909 broad.mit.edu 37 18 21343417 21343417 + Missense_Mutation SNP T C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr18:21343417T>C uc002kuq.3 + 7 1198 c.1112T>C c.(1111-1113)gTt>gCt p.V371A LAMA3_uc010dlv.2_Missense_Mutation_p.V371A|LAMA3_uc002kur.3_Missense_Mutation_p.V371A NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 371 Domain V.|Laminin EGF-like 2. 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 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) GATCCAGATGTTGAGCGGCAG 0.443000 91 8 0 0 0.003080 0 0 C19orf57 79173 broad.mit.edu 37 19 14000264 14000264 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:14000264C>T uc002mxl.1 - 5 1464 c.1405G>A c.(1405-1407)Gac>Aac p.D469N C19orf57_uc002mxk.1_Missense_Mutation_p.D351N NM_024323 NP_077299 Q0VDD7 CS057_HUMAN Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA. 469 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CCCTCGAGGTCTCGTTCGAGG 0.602000 157 21 0 0 0.001523 0 0 AMPD1 270 broad.mit.edu 37 1 115218564 115218564 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:115218564G>A uc001efe.2 - 10 1596 c.1548C>T c.(1546-1548)ttC>ttT p.F516F AMPD1_uc001eff.2_Silent_p.F512F NM_000036 NP_000027 P23109 AMPD1_HUMAN Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA. 483 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) ACACTGGCATGAAAATATTCT 0.443000 101 42 0 0 0.006999 0 0 FNDC3A 22862 broad.mit.edu 37 13 49772281 49772281 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr13:49772281C>T uc001vcm.3 + 21 2959 c.2654C>T c.(2653-2655)cCt>cTt p.P885L FNDC3A_uc001vcn.3_Missense_Mutation_p.P885L|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Missense_Mutation_p.P829L NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA. 885 Fibronectin type-III 7. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TGGGAAAAGCCTTGTGATCAT 0.403000 45 4 0 0 0.000602 0 0 ENTHD1 150350 broad.mit.edu 37 22 40231964 40231964 + Splice_Site SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr22:40231964C>T uc003ayg.3 - 4 844 c.593_splice c.e4-1 p.R198_splice NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA. 198 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) CACACATTTCCTGTCAACAAT 0.348000 43 4 0 0 0.000248 0 0 RAD1 5810 broad.mit.edu 37 5 34911702 34911702 + Missense_Mutation SNP C G G TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:34911702C>G uc003jix.3 - 3 852 c.523G>C c.(523-525)Gaa>Caa p.E175Q RAD1_uc003jiw.3_Missense_Mutation_p.E66Q|RAD1_uc003jiy.3_Missense_Mutation_p.E175Q NM_002853 NP_002844 O60671 RAD1_HUMAN Homo sapiens RAD1 homolog (S. pombe) (RAD1), transcript variant 1, mRNA. 175 DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I nucleoplasm 3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1) 10 all_lung(31;0.000107) Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) TGTAGGACTTCACTCGTCATA 0.413000 Other conserved DNA damage response genes 75 11 0 0 0.000673 0 0 IQCA1 79781 broad.mit.edu 37 2 237374155 237374155 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:237374155C>T uc002vwb.2 - 5 974 c.940G>A c.(940-942)Gaa>Aaa p.E314K IQCA1_uc002vvz.1_Missense_Mutation_p.E307K|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.E307K NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA. 307 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 CACCTGCATTCGATGAACCAA 0.428000 16 5 0 0 0.001984 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140756033 140756033 + Nonsense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:140756033C>T uc003ljy.2 + 0 2383 c.2383C>T c.(2383-2385)Cag>Tag p.Q795* 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_Nonsense_Mutation_p.Q795* NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 805 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) TCTGATAACTCAGGATTTACT 0.478000 66 7 0 0 0.004482 0 0 RBFOX1 54715 broad.mit.edu 37 16 7568299 7568299 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr16:7568299G>A uc002cys.2 + 4 1166 c.178G>A c.(178-180)Gag>Aag p.E60K RBFOX1_uc010buf.1_Missense_Mutation_p.E60K|RBFOX1_uc002cyr.1_Missense_Mutation_p.E60K|RBFOX1_uc002cyt.2_Missense_Mutation_p.E60K|RBFOX1_uc010uxz.1_Missense_Mutation_p.E103K|RBFOX1_uc010uya.1_Missense_Mutation_p.E96K|RBFOX1_uc002cyv.1_Missense_Mutation_p.E60K|RBFOX1_uc010uyb.1_Missense_Mutation_p.E60K|RBFOX1_uc002cyw.2_Missense_Mutation_p.E80K|RBFOX1_uc002cyy.2_Missense_Mutation_p.E80K|RBFOX1_uc002cyx.2_Missense_Mutation_p.E80K|RBFOX1_uc010uyc.1_Missense_Mutation_p.E80K NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA. 60 RNA splicing|RNA transport|mRNA processing nucleus|trans-Golgi network RNA binding|nucleotide binding|protein C-terminus binding p.A59V(1) 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 CACGGTTCCCGAGCACACATT 0.657000 183 19 0 0 0.007413 0 0 ACSBG1 23205 broad.mit.edu 37 15 78470956 78470956 + Splice_Site SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr15:78470956C>T uc002bdh.3 - 11 1908 c.1702_splice c.e11+1 p.E568_splice ACSBG1_uc010umx.2_Splice_Site_p.E326_splice|ACSBG1_uc010umw.2_Splice_Site_p.E564_splice NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA. 568 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 GGGTGCTCACCTTTGAGGCGC 0.617000 30 6 0 0 0.001168 0 0 LINC00174 285908 broad.mit.edu 37 7 65842497 65842497 + RNA SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:65842497G>A uc003tux.3 - 4 c.2958C>T Homo sapiens long intergenic non-protein coding RNA 174 (LINC00174), non-coding RNA. CGGCCCCCATGGGCCACTGTG 0.647000 20 6 0 0 0.001168 0 0 TACC2 10579 broad.mit.edu 37 10 123842181 123842181 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr10:123842181G>A uc001lfv.3 + 3 526 c.166G>A c.(166-168)Gga>Aga p.G56R TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.G56R|TACC2_uc010qtv.2_Missense_Mutation_p.G56R NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 56 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) CGTTGGGCTTGGAGGCTTCTG 0.562000 110 7 0 0 0.004482 0 0 LRRN2 10446 broad.mit.edu 37 1 204587262 204587262 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:204587262G>A uc021phy.1 - 0 1859 c.1859C>T c.(1858-1860)tCt>tTt p.S620F MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.S620F|LRRN2_uc001hbf.1_Missense_Mutation_p.S620F|LRRN2_uc009xbf.1_Missense_Mutation_p.S620F|MDM4_uc001hbc.3_Intron NM_201630 NP_963924 O75325 LRRN2_HUMAN Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA. 620 cell adhesion integral to membrane receptor activity p.T619T(1) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) TCTGTGGCAAGAAGTGGCCTC 0.627000 39 12 0 0 0.001368 0 0 ADARB1 104 broad.mit.edu 37 21 46595747 46595747 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr21:46595747G>A uc002zgy.2 + 3 566 c.131G>A c.(130-132)gGg>gAg p.G44E ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Missense_Mutation_p.G44E|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Missense_Mutation_p.G44E|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgr.2_Missense_Mutation_p.G44E|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript|ADARB1_uc011afo.1_Missense_Mutation_p.G93E NM_015833 NP_056648 P78563 RED1_HUMAN Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA. 44 RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing nucleoplasm|nucleus RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) CTCTCCAATGGGGGTGGTGGT 0.622000 152 23 0 0 0.002299 0 0 CYP4X1 260293 broad.mit.edu 37 1 47505044 47505044 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:47505044G>A uc001cqt.3 + 7 1163 c.913G>A c.(913-915)Gat>Aat p.D305N CYP4X1_uc001cqr.3_Missense_Mutation_p.D304N|CYP4X1_uc001cqs.3_Missense_Mutation_p.D240N NM_178033 NP_828847 Q8N118 CP4X1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA. 305 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 CTCAGATATTGATGTACACTC 0.408000 18 4 0 0 0.001168 0 0 SLC7A4 6545 broad.mit.edu 37 22 21384498 21384498 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr22:21384498C>T uc002zud.3 - 2 1193 c.1125G>A c.(1123-1125)ggG>ggA p.G375G SLC7A4_uc002zue.3_Silent_p.G375G NM_004173 NP_004164 O43246 CTR4_HUMAN Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA. 375 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2) 18 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CCGTGAGGAGCCCGAACGCCA 0.632000 67 9 0 0 0.004482 0 0 FZD10 11211 broad.mit.edu 37 12 130648594 130648594 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:130648594C>T uc001uii.3 + 0 1591 c.1107C>T c.(1105-1107)atC>atT p.I369I FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN Homo sapiens frizzled family receptor 10 (FZD10), mRNA. 369 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CCATCCTGATCCTGGTCATGC 0.667000 77 11 0 0 0.000978 0 0 CFB 629 broad.mit.edu 37 6 31918995 31918995 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr6:31918995G>A uc003nyj.4 + 14 2208 c.1930G>A c.(1930-1932)Gag>Aag p.E644K CFB_uc011dor.2_Missense_Mutation_p.E1146K NM_001710 NP_001701 P00751 CFAB_HUMAN Homo sapiens complement factor B (CFB), mRNA. 644 Peptidase S1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 GACTCGGAAGGAGGTCTACAT 0.498000 338 34 0 0 0.003271 0 0 MYBPC3 4607 broad.mit.edu 37 11 47360953 47360953 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:47360953C>T uc021qis.1 - 21 2125 c.2070G>A c.(2068-2070)ggG>ggA p.G690G MYBPC3_uc021qir.1_Silent_p.G342G|MYBPC3_uc010rhl.2_Non-coding_Transcript NM_000256 NP_000247 Q14896 MYPC3_HUMAN Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA. 689 Ig-like C2-type 5. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) GGGCCTTATTCCCCTGGGAAC 0.617000 149 24 0 0 0.003954 0 0 ANKRA2 57763 broad.mit.edu 37 5 72858543 72858543 + Missense_Mutation SNP A C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:72858543A>C uc003kcu.2 - 1 823 c.164T>G c.(163-165)aTa>aGa p.I55R NM_023039 NP_075526 Q9H9E1 ANRA2_HUMAN Homo sapiens ankyrin repeat, family A (RFXANK-like), 2 (ANKRA2), mRNA. 55 cytoskeleton|cytosol|membrane low-density lipoprotein particle binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 Lung NSC(167;0.0378)|Ovarian(174;0.0908) OV - Ovarian serous cystadenocarcinoma(47;3.71e-54) GTTAGGCAATATGAATTTCAT 0.388000 133 15 0 0 0.001216 0 0 GABRE 2564 broad.mit.edu 37 X 151123984 151123984 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:151123984G>A uc004ffi.3 - 7 1047 c.993C>T c.(991-993)ttC>ttT p.F331F GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank NM_004961 NP_004952 P78334 GBRE_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA. 331 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) AGACACGCGGGAAATTCTTAC 0.507000 61 11 0 0 0.002450 0 0 FAM19A1 407738 broad.mit.edu 37 3 68055810 68055810 + Nonsense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:68055810G>A uc003dnd.3 + 1 257 c.41G>A c.(40-42)tGg>tAg p.W14* FAM19A1_uc003dne.3_Nonsense_Mutation_p.W14*|FAM19A1_uc003dng.3_Nonsense_Mutation_p.W14*|FAM19A1_uc003dnf.1_Non-coding_Transcript NM_001252216 NP_001239145 Q7Z5A9 F19A1_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA. 14 endoplasmic reticulum|extracellular region p.L13F(1) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) CTGTATTTGTGGATAAGTGCT 0.522000 150 17 0 0 0.006122 0 0 TREML5P 221438 broad.mit.edu 37 6 41217317 41217317 + RNA SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr6:41217317G>A uc003oqe.1 + 0 c.203G>A Homo sapiens triggering receptor expressed on myeloid cells-like 2 pseudogene 1 (TREML2P1), non-coding RNA. GACTCAGGCCGATACTGGTGC 0.627000 38 5 0 0 0.001984 0 0 PLXNA3 55558 broad.mit.edu 37 X 153697519 153697519 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:153697519C>T uc004flm.3 + 25 4728 c.4555C>T c.(4555-4557)Ccg>Tcg p.P1519S NM_017514 NP_059984 P51805 PLXA3_HUMAN Homo sapiens plexin A3 (PLXNA3), mRNA. 1519 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) CAAGGGCATTCCGTACTCCCA 0.602000 116 22 0 0 0.001882 0 0 NUMA1 4926 broad.mit.edu 37 11 71725701 71725701 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:71725701C>T uc001orl.1 - 14 3020 c.2848G>A c.(2848-2850)Gag>Aag p.E950K NUMA1_uc009ysw.1_Missense_Mutation_p.E513K|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.E950K|NUMA1_uc001orn.2_Missense_Mutation_p.E513K|NUMA1_uc009ysx.1_Missense_Mutation_p.E950K|NUMA1_uc001oro.1_Missense_Mutation_p.E950K NM_006185 NP_006176 Q14980 NUMA1_HUMAN Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA. 950 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 TCCAGCCACTCGGGCTGTCTG 0.637000 T RARA APL 86 14 0 0 0.001855 0 0 ARHGAP11B 89839 broad.mit.edu 37 15 30938440 30938440 + RNA SNP A G G rs115448147 by1000genomes TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr15:30938440A>G uc010azv.1 + 10 c.1250A>G ARHGAP11B_uc001zeu.3_Non-coding_Transcript|LOC100288637_uc001zev.3_Non-coding_Transcript Q3KRB8 RHGBB_HUMAN Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1) 8 all_lung(180;2.71e-09)|Breast(32;0.00116) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) CTCCTTTGCTATTTGTGCATG 0.493000 16 3 0 0 0.000602 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480581 140480581 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:140480581C>T uc003lio.3 + 0 348 c.348C>T c.(346-348)ttC>ttT p.F116F BC016751_uc003lin.3_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 116 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTTGCAATTCGTTACAAACG 0.418000 114 15 0 0 0.003163 0 0 WDR38 401551 broad.mit.edu 37 9 127619777 127619777 + Splice_Site SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr9:127619777G>A uc011lzo.2 + 9 873 c.817_splice c.e9-1 p.Q273_splice WDR38_uc011lzn.2_Splice_Site_p.Q262_splice|WDR38_uc011lzp.2_Splice_Site_p.Q224_splice|WDR38_uc004box.3_Intron NM_001045476 NP_001038941 Q5JTN6 WDR38_HUMAN Homo sapiens WD repeat domain 38 (WDR38), mRNA. 272 breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 TCTACTCTTAGCAGGGAGTCC 0.567000 73 19 0 0 0.001216 0 0 HIVEP3 59269 broad.mit.edu 37 1 42048937 42048937 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:42048937G>A uc001cgz.4 - 3 2745 c.1532C>T c.(1531-1533)tCc>tTc p.S511F HIVEP3_uc001cha.4_Missense_Mutation_p.S511F|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. 511 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). 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) CTCACTGTGGGATGACAGGGG 0.612000 133 11 0 0 0.000673 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138432301 138432301 + Missense_Mutation SNP T G G rs140896827 TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:138432301T>G uc003vuf.3 - 11 1427 c.1189A>C c.(1189-1191)Acc>Ccc p.T397P ATP6V0A4_uc003vug.3_Missense_Mutation_p.T397P|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.T397P NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA. 397 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GTGATGATGGTGTAGGGGGCT 0.577000 36 6 0 0 0.001168 0 0 ZNF320 162967 broad.mit.edu 37 19 53384496 53384496 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:53384496G>A uc002qag.3 - 3 1074 c.883C>T c.(883-885)Cat>Tat p.H295Y ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.H241Y|ZNF320_uc002qai.3_Missense_Mutation_p.H295Y NM_207333 NP_997216 A2RRD8 ZN320_HUMAN Homo sapiens zinc finger protein 320 (ZNF320), mRNA. 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) TCTGCAGTATGAACTGCCTTA 0.428000 38 4 0 0 0.000602 0 0 CCDC67 159989 broad.mit.edu 37 11 93170761 93170761 + Missense_Mutation SNP T A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:93170761T>A uc001pdq.3 + 13 1791 c.1691T>A c.(1690-1692)cTg>cAg p.L564Q NM_181645 NP_857596 Q05D60 CCD67_HUMAN Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA. 564 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) CATTTCCTTCTGGAAGAAGAG 0.373000 37 7 0 0 0.001984 0 0 SHH 6469 broad.mit.edu 37 7 155604658 155604658 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:155604658C>T uc003wmk.1 - 0 310 c.159G>A c.(157-159)gaG>gaA p.E53E SHH_uc003wmh.1_5'Flank|SHH_uc003wmi.1_5'Flank|SHH_uc003wmj.1_5'Flank NM_000193 NP_000184 Q15465 SHH_HUMAN Homo sapiens sonic hedgehog (SHH), mRNA. 53 E -> K (in HPE3). CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of T cell differentiation in thymus|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding p.E53*(1) central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTAGGGTCTTCTCGGCCACAT 0.557000 338 106 0 0 0.003610 0 0 MUC17 140453 broad.mit.edu 37 7 100674976 100674976 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:100674976G>A uc003uxp.1 + 2 332 c.279G>A c.(277-279)tcG>tcA p.S93S MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 93 Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.S93L(1) 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) AGATGACCTCGATTGAGTCCA 0.488000 48 17 0 0 0.004007 0 0 PPFIA2 8499 broad.mit.edu 37 12 82147926 82147926 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:82147926C>T uc001szo.2 - 2 236 c.75G>A c.(73-75)tcG>tcA p.S25S PPFIA2_uc021rbi.1_Silent_p.S25S|PPFIA2_uc021rbj.1_Silent_p.S25S|PPFIA2_uc021rbk.1_Silent_p.S25S|PPFIA2_uc021rbl.1_Silent_p.S25S NM_003625 NP_003616 B7Z663 B7Z663_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA. 284 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 AGTCTGAGTCCGAGCCACTGC 0.498000 15 4 0 0 0.000248 0 0 ADAM18 8749 broad.mit.edu 37 8 39587442 39587442 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr8:39587442G>A uc003xni.3 + 19 2258 c.2203G>A c.(2203-2205)Gat>Aat p.D735N ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.D711N NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 735 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) ATCAGAAAGCGATGACGTGGG 0.328000 100 25 0 0 0.001786 0 0 MYH2 4620 broad.mit.edu 37 17 10440552 10440552 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:10440552C>T uc010coi.3 - 15 2023 c.1895G>A c.(1894-1896)gGa>gAa p.G632E AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.G632E|MYH2_uc010coj.3_Missense_Mutation_p.G632E NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 632 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 p.E631V(2) 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 AGCATTACCTCCTTCAGCAGT 0.438000 49 10 0 0 0.000673 0 0 CD1C 911 broad.mit.edu 37 1 158262056 158262056 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:158262056G>A uc001fru.3 + 2 803 c.511G>A c.(511-513)Gaa>Aaa p.E171K CD1C_uc021pbl.1_5'Flank NM_001765 NP_001756 P29017 CD1C_HUMAN Homo sapiens CD1c molecule (CD1C), mRNA. 171 T cell activation involved in immune response|antigen processing and presentation endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) TCATCAGTATGAAGGCGTCAC 0.463000 108 16 0 0 0.004990 0 0 VAV2 7410 broad.mit.edu 37 9 136645046 136645046 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr9:136645046C>T uc004ces.3 - 20 1802 c.1756G>A c.(1756-1758)Gga>Aga p.G586R VAV2_uc004cer.3_Missense_Mutation_p.G576R|VAV2_uc004cet.1_Missense_Mutation_p.G125R NM_001134398 NP_001127870 P52735 VAV2_HUMAN Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA. 586 SH3 1. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|metal ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) TCACCTGGTCCCGCTCCGGAG 0.622000 53 12 0 0 0.002450 0 0 NID1 4811 broad.mit.edu 37 1 236154240 236154241 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:236154240_236154241GG>AA uc001hxo.3 - 13 2975_2976 c.2873_2874CC>TT c.(2872-2874)ccc>cTT p.P958L NID1_uc009xgd.3_Missense_Mutation_p.P825L|NID1_uc009xgc.3_Missense_Mutation_p.P44L NM_002508 NP_002499 P14543 NID1_HUMAN Homo sapiens nidogen 1 (NID1), mRNA. 958 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TTCCCTCCAGGGGCAGGCGCTC 0.574000 87 11 0 0 0.004672 0 0 GREB1 9687 broad.mit.edu 37 2 11706713 11706713 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:11706713G>A uc002rbk.1 + 3 685 c.385G>A c.(385-387)Gac>Aac p.D129N GREB1_uc002rbl.3_Missense_Mutation_p.D129N|GREB1_uc002rbm.3_Missense_Mutation_p.D19N|GREB1_uc002rbn.1_Missense_Mutation_p.D129N NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA. 129 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CAGCCTGCCGGACCATCTCCT 0.587000 105 8 0 0 0.004482 0 0 XPNPEP3 63929 broad.mit.edu 37 22 41310302 41310302 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr22:41310302C>T uc003azh.3 + 6 1130 c.1029C>T c.(1027-1029)atC>atT p.I343I XPNPEP3_uc003azi.3_Silent_p.I264I|XPNPEP3_uc011aoy.1_Non-coding_Transcript NM_022098 NP_071381 Q9NQH7 XPP3_HUMAN Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 343 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 TGAGTGACATCACACGTACGT 0.458000 56 8 0 0 0.003080 0 0 B3GALT6 126792 broad.mit.edu 37 1 1168182 1168182 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:1168182C>T uc001adk.3 + 0 554 c.524C>T c.(523-525)cCc>cTc p.P175L SDF4_uc001adh.4_5'Flank|SDF4_uc001adi.4_5'Flank|SDF4_uc009vjw.3_5'Flank NM_080605 NP_542172 Q96L58 B3GT6_HUMAN Homo sapiens UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 (B3GALT6), mRNA. 175 glycosaminoglycan biosynthetic process|protein glycosylation Golgi cisterna membrane|Golgi medial cisterna|integral to membrane galactosylxylosylprotein 3-beta-galactosyltransferase activity lung(3) 3 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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) gcccgcgagcccgcgcgccgc 0.751000 16 4 0 0 0.001168 0 0 CCDC110 256309 broad.mit.edu 37 4 186380140 186380140 + Missense_Mutation SNP A G G TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:186380140A>G uc003ixu.4 - 5 1677 c.1601T>C c.(1600-1602)tTa>tCa p.L534S CCDC110_uc003ixv.4_Missense_Mutation_p.L497S|CCDC110_uc011ckt.1_Missense_Mutation_p.L534S NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA. 534 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TTGCTTCTCTAAAGAAAGTTG 0.274000 23 6 0 0 0.001984 0 0 GPR63 81491 broad.mit.edu 37 6 97246999 97246999 + Nonsense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr6:97246999C>T uc010kcl.3 - 2 1087 c.609G>A c.(607-609)tgG>tgA p.W203* GPR63_uc003pou.3_Nonsense_Mutation_p.W203*|GPR63_uc021zcy.1_Nonsense_Mutation_p.W203* NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA. 203 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding p.W203L(2)|p.W203C(2) kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) AGGAAGTTGCCCAAGAAACTG 0.463000 36 7 0 0 0.001984 0 0 SFXN5 94097 broad.mit.edu 37 2 73298765 73298765 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:73298765G>A uc002siq.3 - 0 201 c.70C>T c.(70-72)Cct>Tct p.P24S SFXN5_uc010fet.3_Missense_Mutation_p.P24S NM_144579 NP_653180 Q8TD22 SFXN5_HUMAN Homo sapiens sideroflexin 5 (SFXN5), nuclear gene encoding mitochondrial protein, mRNA. 24 iron ion homeostasis integral to membrane cation transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 AGTTGGAAAGGAGGTGCATCG 0.657000 29 4 0 0 0.000602 0 0 MYOM2 9172 broad.mit.edu 37 8 2092691 2092691 + Missense_Mutation SNP T C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr8:2092691T>C uc003wpx.4 + 36 4322 c.4184T>C c.(4183-4185)gTg>gCg p.V1395A MYOM2_uc011kwi.2_Missense_Mutation_p.V820A NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 1395 Ig-like C2-type 5. 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) TCGGTGAAGGTGGAGCAGGCC 0.532000 109 16 0 0 0.006122 0 0 PYGO1 26108 broad.mit.edu 37 15 55838771 55838771 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr15:55838771G>A uc002adf.1 - 2 710 c.710C>T c.(709-711)cCa>cTa p.P237L PYGO1_uc010bfl.1_Missense_Mutation_p.P237L NM_015617 NP_056432 Q9Y3Y4 PYGO1_HUMAN Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA. 237 Asn-rich. Wnt receptor signaling pathway nucleus zinc ion binding endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) GTCTTGTTTTGGGGGTGGTGC 0.373000 21 5 0 0 0.001168 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146825856 146825856 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:146825856G>A uc003weu.2 + 6 1527 c.1011G>A c.(1009-1011)atG>atA p.M337I NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 337 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.M337I(2) 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) AAGGCTGCATGGAAAGCATCA 0.413000 HNSCC(39;0.1) 36 4 0 0 0.000602 0 0 PRDM15 63977 broad.mit.edu 37 21 43277340 43277340 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr21:43277340G>A uc002yzq.1 - 10 1439 c.1328C>T c.(1327-1329)cCc>cTc p.P443L PRDM15_uc002yzo.3_Missense_Mutation_p.P114L|PRDM15_uc002yzp.3_Missense_Mutation_p.P114L|PRDM15_uc002yzr.1_Missense_Mutation_p.P114L NM_022115 NP_071398 P57071 PRD15_HUMAN Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA. 443 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 GGACTCAAAGGGACCGAACTG 0.547000 149 8 0 0 0.006214 0 0 NEURL3 93082 broad.mit.edu 37 2 97166202 97166202 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:97166202C>T uc010yuo.2 - 1 559 c.488G>A c.(487-489)gGg>gAg p.G163E NEURL3_uc010fhx.3_Non-coding_Transcript|NEURL3_uc002swc.3_Non-coding_Transcript|NEURL3_uc010yup.1_Missense_Mutation_p.G163E Homo sapiens neuralized homolog 3 (Drosophila) pseudogene (NEURL3), non-coding RNA. CTTAGTGGTCCCATACACGTC 0.706000 20 4 0 0 0.000248 0 0 SACS 26278 broad.mit.edu 37 13 23906876 23906876 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr13:23906876G>A uc001uon.2 - 9 11728 c.11139C>T c.(11137-11139)ccC>ccT p.P3713P SACS_uc001uoo.2_Silent_p.P3566P|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. 3713 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) TAATGCTTAAGGGTGTAGCTT 0.393000 37 4 0 0 0.000248 0 0 TUBB8 347688 broad.mit.edu 37 10 93805 93805 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr10:93805G>A uc001ifi.2 - 3 527 c.527C>T c.(526-528)tCg>tTg p.S176L NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA. 176 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity p.V175M(1) NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) CACGGTGTCCGACACCTTGGG 0.537000 244 14 0 0 0.007413 0 0 NSRP1 84081 broad.mit.edu 37 17 28512396 28512396 + Missense_Mutation SNP A G G TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:28512396A>G uc002heu.3 + 6 1409 c.1381A>G c.(1381-1383)Agg>Ggg p.R461G NSRP1_uc002hev.3_Missense_Mutation_p.R407G|NSRP1_uc010wbl.2_Missense_Mutation_p.R407G|NSRP1_uc010wbm.2_Missense_Mutation_p.R407G|NSRP1_uc002hex.3_Missense_Mutation_p.R407G NM_032141 NP_115517 Q9H0G5 NSRP1_HUMAN Homo sapiens nuclear speckle splicing regulatory protein 1 (NSRP1), transcript variant 1, mRNA. 461 developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 14 CCCAAATTCTAGGGCAAAGGA 0.353000 29 3 0 0 0.004672 0 0 ICAM2 3384 broad.mit.edu 37 17 62083993 62083993 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:62083993G>A uc002jdu.4 - 0 291 c.59C>T c.(58-60)cCa>cTa p.P20L ICAM2_uc002jdw.4_Missense_Mutation_p.P20L|ICAM2_uc010ded.3_Missense_Mutation_p.P20L|ICAM2_uc002jdx.4_Missense_Mutation_p.P20L|ICAM2_uc002jdv.4_Missense_Mutation_p.P20L|ICAM2_uc010wpx.1_Missense_Mutation_p.P20L NM_000873 NP_001093259 P13598 ICAM2_HUMAN Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA. 20 cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding large_intestine(1)|lung(2)|ovary(1)|skin(2) 6 TGGCTTACCTGGACAGCAGAT 0.597000 34 8 0 0 0.006214 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140725727 140725727 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:140725727C>T uc003ljm.2 + 0 2127 c.2127C>T c.(2125-2127)atC>atT p.I709I PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.I709I NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 710 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) CCTTCGTCATCGTGCTGCTGG 0.682000 146 33 0 0 0.005524 0 0 OR5D14 219436 broad.mit.edu 37 11 55563508 55563508 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:55563508G>A uc010rim.2 + 0 477 c.477G>A c.(475-477)ttG>ttA p.L159L NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA. 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P158H(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) TTGGCCCCTTGGTACTCCTTT 0.498000 73 10 0 0 0.006214 0 0 PDE8B 8622 broad.mit.edu 37 5 76627230 76627230 + Silent SNP G A A rs150153853 TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:76627230G>A uc003kfa.3 + 4 699 c.654G>A c.(652-654)tcG>tcA p.S218S PDE8B_uc003kfd.3_Silent_p.S218S|PDE8B_uc003kfe.3_Silent_p.S218S|PDE8B_uc003kfb.3_Silent_p.S198S|PDE8B_uc003kfc.3_Silent_p.S218S NM_003719 NP_003710 O95263 PDE8B_HUMAN Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA. 218 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) GCTGCAGATCGGATGACCATG 0.498000 116 24 0 0 0.007291 0 0 FGFR1OP 11116 broad.mit.edu 37 6 167438348 167438348 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr6:167438348C>T uc003qvj.3 + 8 970 c.885C>T c.(883-885)tcC>tcT p.S295S CCR6_uc003qvl.3_5'UTR|FGFR1OP_uc011egp.1_Silent_p.S248S|FGFR1OP_uc003qvk.3_Silent_p.S275S NM_007045 NP_008976 O95684 FR1OP_HUMAN Homo sapiens FGFR1 oncogene partner (FGFR1OP), transcript variant 1, mRNA. 295 G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation centrosome|cytosol|nucleus|perinuclear region of cytoplasm protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity large_intestine(2)|ovary(1)|stomach(1) 4 Breast(66;1.48e-05)|Ovarian(120;0.0607) OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231) GACTCAGCTCCCTGGCGGGAG 0.463000 T FGFR1 """MPD, NHL""" 67 8 0 0 0.004482 0 0 EGFL6 25975 broad.mit.edu 37 X 13645196 13645196 + Missense_Mutation SNP T G G TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:13645196T>G uc004cvj.3 + 10 1642 c.1355T>G c.(1354-1356)cTt>cGt p.L452R EGFL6_uc004cvi.3_Missense_Mutation_p.L451R NM_001167890 NP_001161362 Q8IUX8 EGFL6_HUMAN Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA. 451 MAM. cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 CGATTGAAACTTCTCCTACCT 0.453000 92 12 0 0 0.000978 0 0 BICC1 80114 broad.mit.edu 37 10 60566913 60566913 + Missense_Mutation SNP T C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr10:60566913T>C uc001jki.1 + 16 2371 c.2371T>C c.(2371-2373)Tat>Cat p.Y791H BICC1_uc001jkj.1_Missense_Mutation_p.Y432H NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA. 791 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 GACAACCACTTATGAGGTTTG 0.458000 19 3 0 0 0.000248 0 0 TP73 7161 broad.mit.edu 37 1 3624233 3624233 + Missense_Mutation SNP A G G TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:3624233A>G uc001akp.3 + 3 417 c.307A>G c.(307-309)Agc>Ggc p.S103G TP73_uc021ofb.1_Missense_Mutation_p.S103G|TP73_uc021ofc.1_Missense_Mutation_p.S103G|TP73_uc021ofd.1_Missense_Mutation_p.S103G|TP73_uc021ofe.1_Missense_Mutation_p.S103G|TP73_uc021off.1_Missense_Mutation_p.S103G|TP73_uc010nzj.2_Missense_Mutation_p.S54G|TP73_uc021ofg.1_Missense_Mutation_p.S54G|TP73_uc021ofh.1_Missense_Mutation_p.S54G|TP73_uc021ofi.1_Missense_Mutation_p.S54G|TP73_uc001akr.3_Missense_Mutation_p.S54G|TP73_uc009vlk.2_Missense_Mutation_p.S54G|TP73_uc001aks.3_Missense_Mutation_p.S54G|TP73_uc009vll.3_Missense_Mutation_p.S32G|TP73_uc010nzk.2_Missense_Mutation_p.S32G NM_005427 NP_001191121 O15350 P73_HUMAN Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA. 103 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|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) CGCACAACCCAGCTCCACCTT 0.672000 103 12 0 0 0.001855 0 0 JPH2 57158 broad.mit.edu 37 20 42788275 42788275 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr20:42788275G>A uc002xli.1 - 1 2025 c.1152C>T c.(1150-1152)gcC>gcT p.A384A NM_020433 NP_065166 Q9BR39 JPH2_HUMAN Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA. 384 Ala-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CGGCAATCTCGGCCTTCTGGC 0.682000 23 5 0 0 0.000602 0 0 MUC16 94025 broad.mit.edu 37 19 9088962 9088962 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:9088962G>A uc002mkp.3 - 0 3057 c.2853C>T c.(2851-2853)acC>acT p.T951T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 951 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 TGTCTCTATTGGTCTGTGACA 0.483000 53 7 0 0 0.001984 0 0 RGS14 10636 broad.mit.edu 37 5 176794828 176794828 + Splice_Site SNP T G G TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:176794828T>G uc003mgh.3 + 7 921 c.739_splice c.e7+2 p.E247_splice RGS14_uc003mgf.3_Splice_Site_p.E247_splice|RGS14_uc003mgg.1_Splice_Site_p.E94_splice|RGS14_uc003mgi.3_5'UTR NM_006480 NP_006471 O43566 RGS14_HUMAN Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA. 247 chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division PML body|cell junction|centrosome|dendritic spine|microtubule|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1) 12 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) TCCGCCGGGGTGAGGGCAGGA 0.652000 40 9 0 0 0.004482 0 0 ECE1 1889 broad.mit.edu 37 1 21605716 21605716 + Missense_Mutation SNP C A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:21605716C>A uc001bek.2 - 2 323 c.248G>T c.(247-249)tGc>tTc p.C83F ECE1_uc001bem.2_Missense_Mutation_p.C67F|ECE1_uc001bej.2_Missense_Mutation_p.C71F|ECE1_uc001bei.2_Missense_Mutation_p.C80F|ECE1_uc010odl.1_Missense_Mutation_p.C83F|ECE1_uc009vqa.1_Missense_Mutation_p.C83F|AX747766_uc001ben.1_5'Flank NM_001397 NP_001388 P42892 ECE1_HUMAN Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA. 83 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) TGCTGCCAAGCAGGCCACCAG 0.652000 94 13 9.31168e-06 1.25032e-05 0.001855 1 0 FTSJD1 55783 broad.mit.edu 37 16 71318845 71318845 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr16:71318845G>A uc021tkr.1 - 0 979 c.979C>T c.(979-981)Cat>Tat p.H327Y FTSJD1_uc010cga.3_Missense_Mutation_p.H327Y|FTSJD1_uc002ezy.4_Missense_Mutation_p.H327Y|FTSJD1_uc002ezz.4_Missense_Mutation_p.H327Y NM_018348 NP_060818 Q8IYT2 FTSJ1_HUMAN Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA. 327 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AACAGAGGATGGATGGCCTCT 0.423000 81 12 0 0 0.001368 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86542321 86542321 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:86542321G>A uc011kha.2 - 13 2116 c.1931C>T c.(1930-1932)tCc>tTc p.S644F KIAA1324L_uc003uie.3_Missense_Mutation_p.S477F|KIAA1324L_uc011kgz.2_Missense_Mutation_p.S530F|KIAA1324L_uc003uif.2_Missense_Mutation_p.S396F NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA. 644 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) CTGATGTATGGACAGGTAGGT 0.502000 12 8 0 0 0.003080 0 0 OR4D1 26689 broad.mit.edu 37 17 56232643 56232643 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:56232643C>T uc010wno.2 + 0 129 c.129C>T c.(127-129)ctC>ctT p.L43L MSX2P1_uc002ivn.3_5'Flank NM_012374 NP_036506 Q15615 OR4D1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA. 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 TGGGAAACCTCCTTATCATGG 0.458000 218 21 0 0 0.001523 0 0 PLA2G2F 64600 broad.mit.edu 37 1 20474840 20474841 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:20474840_20474841CC>TT uc009vpp.1 + 4 680_681 c.582_583CC>TT c.(580-585)ccccct>ccTTct p.P195S NM_022819 NP_073730 Q9BZM2 PA2GF_HUMAN Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA. 152 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) ATGAACCGCCCCCTGAGGAGGT 0.624000 96 14 0 0 0.004672 0 0 RAD54L2 23132 broad.mit.edu 37 3 51694052 51694053 + Missense_Mutation DNP CC AT AT TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:51694052_51694053CC>AT uc011bdt.2 + 20 3452_3453 c.3327_3328CC>AT c.(3325-3330)atccgt>atATgt p.R1110C RAD54L2_uc003dbh.3_Missense_Mutation_p.R699C|RAD54L2_uc011bdu.2_Missense_Mutation_p.R804C|RAD54L2_uc003dbj.3_Missense_Mutation_p.R436C NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA. 1110 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) GGACGTACATCCGTACCAGTGA 0.510000 23 4 0 0 0.004672 0 0 POLA1 5422 broad.mit.edu 37 X 24859900 24859900 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:24859900C>T uc004dbl.3 + 32 3865 c.3850C>T c.(3850-3852)Cct>Tct p.P1284S NM_016937 NP_058633 P09884 DPOLA_HUMAN Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA. 1284 DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) ATGTCCATGCCCTACATGTGG 0.388000 18 4 0 0 0.000248 0 0 FAM83A 84985 broad.mit.edu 37 8 124206263 124206263 + Splice_Site SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr8:124206263G>A uc003ypv.3 + 4 2663 c.649_splice c.e4-1 p.N217_splice FAM83A_uc003ypw.3_Splice_Site_p.N217_splice|FAM83A_uc003ypx.3_Splice_Site_p.N217_splice|FAM83A_uc003ypy.3_Splice_Site_p.N161_splice|FAM83A_uc003ypz.3_Splice_Site_p.N217_splice NM_032899 NP_116288 Q86UY5 FA83A_HUMAN Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA. 217 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CCCTCCAACAGAACATTTCCA 0.463000 32 4 0 0 0.000602 0 0 TRPV5 56302 broad.mit.edu 37 7 142609822 142609822 + Silent SNP G C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:142609822G>C uc003wby.1 - 12 1878 c.1614C>G c.(1612-1614)ctC>ctG p.L538L NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA. 538 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CAATAACAGTGAGAAAAAGCT 0.493000 92 25 0 0 0.004656 0 0 OR2A25 392138 broad.mit.edu 37 7 143771756 143771756 + Nonsense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:143771756G>A uc011ktx.2 + 0 444 c.444G>A c.(442-444)tgG>tgA p.W148* NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W148R(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) TGACTTCCTGGATTTTAGGAG 0.458000 109 25 0 0 0.002780 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38643563 38643563 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:38643563G>A uc002ohk.3 + 12 4126 c.3617G>A c.(3616-3618)gGc>gAc p.G1206D NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 1206 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCCTCTTCCGGCGGCCTGACC 0.667000 89 12 0 0 0.001368 0 0 FBRS 64319 broad.mit.edu 37 16 30677847 30677847 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr16:30677847C>T uc002dzd.4 + 5 491 c.228C>T c.(226-228)ttC>ttT p.F76F FBRS_uc002dzc.4_Intron NM_001105079 NP_001098549 Q9HAH7 FBRS_HUMAN Homo sapiens fibrosin (FBRS), mRNA. 76 ovary(1) 1 Colorectal(24;0.103) CCGACCATTTCCGGCCACCTT 0.587000 134 14 0 0 0.007413 0 0 DNAH11 8701 broad.mit.edu 37 7 21934593 21934593 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:21934593C>T uc003svc.3 + 79 13077 c.13046C>T c.(13045-13047)cCt>cTt p.P4349L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 4349 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 CTGGCTTATCCTTCTACTTAT 0.522000 Kartagener syndrome 45 7 0 0 0.001984 0 0 HRNR 388697 broad.mit.edu 37 1 152188366 152188366 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:152188366G>A uc001ezt.1 - 2 5815 c.5739C>T c.(5737-5739)caC>caT p.H1913H NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 1913 keratinization calcium ion binding|protein binding p.H1913R(1) 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) AGCTAGATCCGTGTTGTTCAC 0.557000 911 31 0 0 0.002445 0 0 MAGED1 9500 broad.mit.edu 37 X 51643356 51643356 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:51643356G>A uc004dpn.3 + 11 2281 c.2091G>A c.(2089-2091)gaG>gaA p.E697E MAGED1_uc004dpm.3_Silent_p.E641E|MAGED1_uc004dpo.3_Silent_p.E641E NM_001005333 NP_001005333 Q9Y5V3 MAGD1_HUMAN Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA. 641 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) CCTACCATGAGACTAGCAAGA 0.498000 Multiple Myeloma(10;0.10) 27 7 0 0 0.001984 0 0 STIM1 6786 broad.mit.edu 37 11 4112672 4112672 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:4112672C>T uc021qco.1 + 11 2588 c.2020C>T c.(2020-2022)Ctg>Ttg p.L674L STIM1_uc001lyv.2_Silent_p.L568L|STIM1_uc009yef.2_3'UTR|STIM1_uc009yeg.2_Silent_p.L395L NM_003156 NP_003147 Q13586 STIM1_HUMAN Homo sapiens stromal interaction molecule 1 (STIM1), mRNA. 661 Lys-rich. activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) CCCAGGGTCTCTGGTGGAGAA 0.622000 48 7 0 0 0.001984 0 0 KCNS3 3790 broad.mit.edu 37 2 18112296 18112296 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:18112296C>T uc021veh.1 + 0 21 c.21C>T c.(19-21)ttC>ttT p.F7F KCNS3_uc002rcv.3_Silent_p.F7F|KCNS3_uc002rcw.3_Silent_p.F7F NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA. 7 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity p.F7F(2) endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GTGAGTTTTTCCATCGCCCTG 0.527000 31 7 0 0 0.001984 0 0 FAM92A1P2 403315 broad.mit.edu 37 4 183960159 183960159 + RNA SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:183960159C>T uc003ivi.4 + 0 c.1342C>T Homo sapiens family with sequence similarity 92, member A3 (FAM92A3), non-coding RNA. GTCACCTCACCAGAGATCATG 0.393000 45 4 0 0 0.001168 0 0 ZEB1 6935 broad.mit.edu 37 10 31799699 31799699 + Missense_Mutation SNP G C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr10:31799699G>C uc001ivs.4 + 4 643 c.580G>C c.(580-582)Gaa>Caa p.E194Q ZEB1_uc001ivr.4_5'UTR|ZEB1_uc010qef.2_5'UTR|ZEB1_uc009xlh.1_Non-coding_Transcript|ZEB1_uc009xli.1_Non-coding_Transcript|ZEB1_uc009xlj.1_Missense_Mutation_p.E120Q|ZEB1_uc010qeg.1_Missense_Mutation_p.E53Q|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivu.4_Missense_Mutation_p.E195Q|ZEB1_uc010qeh.2_Missense_Mutation_p.E127Q|ZEB1_uc001ivv.4_Missense_Mutation_p.E174Q|ZEB1_uc001ivt.4_5'UTR|ZEB1_uc009xll.2_Non-coding_Transcript|ZEB1_uc009xlm.1_Non-coding_Transcript|ZEB1_uc009xln.1_Non-coding_Transcript|ZEB1_uc009xlo.2_Missense_Mutation_p.E177Q|ZEB1_uc009xlp.3_Missense_Mutation_p.E178Q NM_030751 NP_110378 P37275 ZEB1_HUMAN Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA. 194 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) ATATCGTCATGAAAAGAATGA 0.383000 14 4 0 0 0.001168 0 0 SLA2 84174 broad.mit.edu 37 20 35242766 35242766 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr20:35242766C>T uc002xfv.3 - 6 1030 c.607G>A c.(607-609)Gat>Aat p.D203N SLA2_uc002xfu.3_Missense_Mutation_p.G186E NM_032214 NP_115590 Q9H6Q3 SLAP2_HUMAN Homo sapiens Src-like-adaptor 2 (SLA2), transcript variant 1, mRNA. 203 SLA C-terminal. B cell mediated immunity|T cell activation|antigen receptor-mediated signaling pathway|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane SH3/SH2 adaptor activity|protein N-terminus binding endometrium(1)|lung(2)|skin(2) 5 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) AGGGGTATATCCTTGCCAGGG 0.567000 129 19 0 0 0.006122 0 0 PHKA2 5256 broad.mit.edu 37 X 18924613 18924613 + Splice_Site SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:18924613C>T uc004cyv.4 - 25 3236 c.2806_splice c.e25+1 p.G936_splice PHKA2_uc010nfe.1_5'Flank|PHKA2_uc010nff.1_5'Flank NM_000292 NP_000283 P46019 KPB2_HUMAN Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA. 936 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) GGCATCTCACCTGAGCAGTTC 0.627000 95 15 0 0 0.004007 0 0 FBXO24 26261 broad.mit.edu 37 7 100198504 100198504 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:100198504C>T uc011kjz.1 + 9 1907 c.1839C>T c.(1837-1839)ccC>ccT p.P613P FBXO24_uc003uvm.1_Silent_p.P575P|FBXO24_uc003uvn.1_Silent_p.P213P|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Silent_p.P563P|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank NM_012172 NP_036304 O75426 FBX24_HUMAN Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA. 575 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GTGTAGGGCCCCCAGCCCCTG 0.632000 76 23 0 0 0.002780 0 0 COL11A2 1302 broad.mit.edu 37 6 33139255 33139255 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr6:33139255C>T uc003ocx.1 - 42 3475 c.3247G>A c.(3247-3249)Gat>Aat p.D1083N COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.D997N|COL11A2_uc003ocz.1_Missense_Mutation_p.D976N NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 1083 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 TTGTCTCCATCCTCTCCAGCC 0.627000 52 9 0 0 0.006214 0 0 USH1C 10083 broad.mit.edu 37 11 17542474 17542474 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:17542474G>A uc001mnf.3 - 13 1262 c.1153C>T c.(1153-1155)Ctc>Ttc p.L385F USH1C_uc001mne.3_Missense_Mutation_p.L385F|USH1C_uc009yhb.3_Missense_Mutation_p.L366F|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.L349F NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. 385 G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 TTAGGCAAGAGTAGCTGTTCC 0.488000 457 64 0 0 0.003610 0 0 PTPN14 5784 broad.mit.edu 37 1 214571288 214571288 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:214571288C>T uc001hkk.2 - 7 1379 c.726G>A c.(724-726)agG>agA p.R242R PTPN14_uc021piy.1_Silent_p.R6R|PTPN14_uc010pty.2_Silent_p.R143R NM_005401 NP_005392 Q15678 PTN14_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA. 242 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CAATTCTGTTCCTCACGAAAA 0.358000 20 6 0 0 0.001984 0 0 SELV 348303 broad.mit.edu 37 19 40009732 40009732 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:40009732G>A uc021uum.1 + 4 1085 c.985G>A c.(985-987)Gag>Aag p.E329K NM_182704 P59797 SELV_HUMAN Homo sapiens selenoprotein V (SELV), mRNA. 329 cell redox homeostasis selenium binding breast(1)|endometrium(1)|lung(3)|prostate(1) 6 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CTTTGTGAACGAGTCCAGGCT 0.592000 74 8 0 0 0.003080 0 0 FRG1B 284802 broad.mit.edu 37 20 29625985 29625985 + Splice_Site SNP G A A rs79368216 by1000genomes TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr20:29625985G>A uc010ztl.1 + 2 170 c.138_splice c.e2+1 p.N46_splice FRG1B_uc002wvm.1_Splice_Site|FRG1B_uc010ztj.1_Splice_Site|FRG1B_uc010gdr.1_Splice_Site|FRG1B_uc010ztk.1_Intron Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CTTTCAAAATGTAAGTGCTGT 0.323000 38 8 0 0 0.000673 0 0 ABP1 26 broad.mit.edu 37 7 150556110 150556110 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:150556110G>A uc003why.1 + 3 6048 c.1830G>A c.(1828-1830)caG>caA p.Q610Q ABP1_uc003whz.1_Silent_p.Q610Q|ABP1_uc003wia.1_Silent_p.Q610Q NM_001091 NP_001082 P19801 ABP1_HUMAN Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA. 610 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) CAGGCTGGCAGGAGGAGCAGG 0.647000 17 4 0 0 0.000248 0 0 TEKT3 64518 broad.mit.edu 37 17 15231371 15231371 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:15231371G>A uc002gon.3 - 3 788 c.601C>T c.(601-603)Cat>Tat p.H201Y NM_031898 NP_114104 Q9BXF9 TEKT3_HUMAN Homo sapiens tektin 3 (TEKT3), mRNA. 201 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) TTTTCTCGATGAAATAGACAT 0.403000 37 8 0 0 0.006214 0 0 CBLB 868 broad.mit.edu 37 3 105412372 105412372 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:105412372G>A uc003dwc.3 - 12 2342 c.2020C>T c.(2020-2022)Cct>Tct p.P674S CBLB_uc011bhi.2_Missense_Mutation_p.P696S|CBLB_uc003dwd.2_Missense_Mutation_p.P674S|CBLB_uc003dwe.2_Missense_Mutation_p.P674S NM_170662 NP_733762 Q13191 CBLB_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA. 674 Pro-rich. NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 ACTGGAGGAGGAGGAGAAAGC 0.408000 Mis S AML 16 3 0 0 0.000602 0 0 ATP2A3 489 broad.mit.edu 37 17 3839759 3839759 + Missense_Mutation SNP A C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:3839759A>C uc002fwy.2 - 15 2499 c.2326T>G c.(2326-2328)Ttc>Gtc p.F776V ATP2A3_uc002fwz.2_Missense_Mutation_p.F776V|ATP2A3_uc002fxa.2_Missense_Mutation_p.F776V|ATP2A3_uc002fxb.2_Missense_Mutation_p.F776V|ATP2A3_uc002fxc.2_Missense_Mutation_p.F776V|ATP2A3_uc002fxd.2_Missense_Mutation_p.F776V|ATP2A3_uc002fwx.2_Missense_Mutation_p.F776V NM_174953 NP_777613 Q93084 AT2A3_HUMAN Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA. 776 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GCCGTGAGGAAGATGCTGGAA 0.637000 82 7 0 0 0.003080 0 0 CDH15 1013 broad.mit.edu 37 16 89256854 89256854 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr16:89256854G>A uc002fmt.3 + 7 1259 c.1182G>A c.(1180-1182)gtG>gtA p.V394V NM_004933 NP_004924 P55291 CAD15_HUMAN Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA. 394 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) GCACTCTGGTGGCCACCTTCT 0.662000 26 4 0 0 0.000248 0 0 HPSE 10855 broad.mit.edu 37 4 84232034 84232034 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:84232034C>T uc003hoj.4 - 4 782 c.683G>A c.(682-684)aGt>aAt p.S228N HPSE_uc003hoi.3_Missense_Mutation_p.S170N|HPSE_uc011ccq.2_Intron|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Intron|HPSE_uc003hok.4_Missense_Mutation_p.S228N|HPSE_uc011cct.2_Missense_Mutation_p.S228N NM_001098540 NP_006656 Q9Y251 HPSE_HUMAN Homo sapiens heparanase (HPSE), transcript variant 2, mRNA. 228 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) CTTAAGGAAACTGTTAGGTTC 0.308000 46 6 0 0 0.001168 0 0 PDGFRA 5156 broad.mit.edu 37 4 55131161 55131161 + Missense_Mutation SNP G C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:55131161G>C uc003han.4 + 4 1035 c.704G>C c.(703-705)tGt>tCt p.C235S PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.C129S|PDGFRA_uc003ham.2_Non-coding_Transcript NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 235 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 p.C235Y(2) 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) GTGGTCACCTGTGCTGTTTTT 0.443000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 42 7 0 0 0.001984 0 0 KCNJ9 3765 broad.mit.edu 37 1 160054080 160054080 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr1:160054080G>A uc001fuy.1 + 1 502 c.260G>A c.(259-261)gGc>gAc p.G87D NM_004983 NP_004974 Q92806 IRK9_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 9 (KCNJ9), mRNA. 87 synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding p.R86L(1) biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2) 16 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TACGGCCGCGGCGACCTGGAG 0.657000 49 5 0 0 0.001168 0 0 AB231721 0 broad.mit.edu 37 11 58660159 58660159 + RNA SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:58660159G>A uc001nne.1 + 1 c.99G>A Homo sapiens mRNA for hypothetical protein, partial sequence, clone:Hsa11-digit13-03-08-F. TTAGGTGAGGGGATAAGAGCA 0.413000 12 5 0 0 0.001168 0 0 SPTLC3 55304 broad.mit.edu 37 20 13029765 13029765 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr20:13029765G>A uc002wod.1 + 1 579 c.290G>A c.(289-291)aGa>aAa p.R97K SPTLC3_uc002woc.3_Missense_Mutation_p.R97K NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA. 97 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) GCTGTGGAAAGAAAAGAACAA 0.428000 5 3 0 0 0.004672 0 0 ARPC1A 10552 broad.mit.edu 37 7 98941935 98941935 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr7:98941935G>A uc003upx.2 + 3 350 c.189G>A c.(187-189)aaG>aaA p.K63K ARPC1A_uc003upy.2_Silent_p.K49K|ARPC1A_uc011kit.2_Non-coding_Transcript NM_006409 NP_006400 Q92747 ARC1A_HUMAN Homo sapiens actin related protein 2/3 complex, subunit 1A, 41kDa (ARPC1A), transcript variant 1, mRNA. 63 actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1) 19 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) GGGCTCCCAAGAGCGACCGCA 0.532000 35 4 0 0 0.000248 0 0 CAPN13 92291 broad.mit.edu 37 2 30954239 30954239 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:30954239C>T uc021vfn.1 - 19 1986 c.1954G>A c.(1954-1956)Gga>Aga p.G652R CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.G648R NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN Homo sapiens calpain 13 (CAPN13), mRNA. 652 EF-hand 2. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) AGTCCTTTTCCATCCTTAGAG 0.567000 25 5 0 0 0.000602 0 0 AFF4 27125 broad.mit.edu 37 5 132232412 132232412 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:132232412G>A uc003kyd.3 - 10 2318 c.1910C>T c.(1909-1911)tCc>tTc p.S637F AFF4_uc011cxk.2_Missense_Mutation_p.S315F|AFF4_uc003kye.1_Missense_Mutation_p.S637F NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA. 637 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity p.S636F(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) TGATTTCTGGGAAGATTTACT 0.428000 23 6 0 0 0.001984 0 0 GGCX 2677 broad.mit.edu 37 2 85778939 85778939 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:85778939G>A uc002sps.3 - 10 1711 c.1605C>T c.(1603-1605)ttC>ttT p.F535F GGCX_uc010yss.2_Silent_p.F351F|GGCX_uc010yst.2_Silent_p.F478F NM_000821 NP_000812 P38435 VKGC_HUMAN Homo sapiens gamma-glutamyl carboxylase (GGCX), transcript variant 1, mRNA. 535 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) CCATACCAGGGAAATCTGCAA 0.512000 OREG0014747 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 123 16 0 0 0.006122 0 0 ZNF576 79177 broad.mit.edu 37 19 44103204 44103204 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:44103204G>A uc002owz.2 + 2 480 c.307G>A c.(307-309)Gtt>Att p.V103I IRGQ_uc010eiv.2_5'Flank|ZNF576_uc002owy.2_Missense_Mutation_p.V103I|SRRM5_uc002oxb.2_Intron NM_001145347 NP_077303 Q9H609 ZN576_HUMAN Homo sapiens zinc finger protein 576 (ZNF576), transcript variant 2, mRNA. 103 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|prostate(1) 2 Prostate(69;0.0199) CACCCTGCCGGTTGCAACCAC 0.632000 116 10 0 0 0.000673 0 0 ROBO2 6092 broad.mit.edu 37 3 77684138 77684138 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:77684138G>A uc011bgk.2 + 24 4533 c.3890G>A c.(3889-3891)gGa>gAa p.G1297E ROBO2_uc021xat.1_Missense_Mutation_p.G1309E|ROBO2_uc003dpy.4_Missense_Mutation_p.G1293E|ROBO2_uc003dpz.3_Missense_Mutation_p.G1358E|ROBO2_uc011bgj.2_Non-coding_Transcript NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 1293 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AAACACAAGGGAGGGCGGATG 0.507000 39 4 0 0 0.000248 0 0 SH3BP2 6452 broad.mit.edu 37 4 2833690 2833690 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:2833690C>T uc003gfi.4 + 9 1511 c.1391C>T c.(1390-1392)tCc>tTc p.S464F SH3BP2_uc011bvp.2_Missense_Mutation_p.S492F|SH3BP2_uc003gfj.4_Missense_Mutation_p.S521F|SH3BP2_uc003gfk.4_Missense_Mutation_p.S464F|SH3BP2_uc003gfl.4_Missense_Mutation_p.S397F|SH3BP2_uc003gfm.4_Missense_Mutation_p.S439F NM_001122681 NP_003014 P78314 3BP2_HUMAN Homo sapiens SH3-domain binding protein 2 (SH3BP2), transcript variant 2, mRNA. 464 SH2. signal transduction SH3 domain binding|SH3/SH2 adaptor activity p.S464S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) ACCACGGAGTCCTGCGAAGTG 0.612000 Cherubism 52 13 0 0 0.004007 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21370151 21370151 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:21370151G>A uc001req.4 + 11 1700 c.1596G>A c.(1594-1596)agG>agA p.R532R NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA. 532 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 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) CTTGTACAAGGAAATTTTACT 0.378000 49 8 0 0 0.003080 0 0 ABCC1 4363 broad.mit.edu 37 16 16215945 16215945 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr16:16215945C>T uc010bvi.3 + 23 3679 c.3504C>T c.(3502-3504)ttC>ttT p.F1168F ABCC1_uc010bvj.3_Silent_p.F1109F|ABCC1_uc010bvk.3_Silent_p.F1112F|ABCC1_uc010bvl.3_Silent_p.F1168F|ABCC1_uc010bvm.3_Silent_p.F1053F|ABCC1_uc002del.4_Silent_p.F1062F|ABCC1_uc021tds.1_Non-coding_Transcript|ABCC1_uc021tdt.1_Silent_p.F134F NM_004996 NP_004987 P33527 MRP1_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA. 1168 ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TTCGAGCCTTCGAGGAGCAGG 0.612000 47 6 0 0 0.001984 0 0 SLC43A2 124935 broad.mit.edu 37 17 1494708 1494708 + Silent SNP G A A rs12936338 TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:1494708G>A uc002fsu.3 - 7 1093 c.786C>T c.(784-786)ttC>ttT p.F262F SLC43A2_uc002fsv.3_Silent_p.F262F|SLC43A2_uc002fsw.3_Silent_p.F262F|SLC43A2_uc002fsx.3_Silent_p.F262F|SLC43A2_uc010vqo.1_Silent_p.F125F NM_152346 NP_689559 Q8N370 LAT4_HUMAN Homo sapiens solute carrier family 43, member 2 (SLC43A2), mRNA. 262 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) CCTGCTTGTAGAACTGCTTCC 0.647000 97 17 0 0 0.001523 0 0 PRDX2 7001 broad.mit.edu 37 19 12911973 12911973 + Splice_Site SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:12911973C>T uc002mvd.3 - 2 253 c.103_splice c.e2+1 p.G35_splice PRDX2_uc002mve.1_Splice_Site_p.G35_splice NM_005809 NP_005800 P32119 PRDX2_HUMAN Homo sapiens peroxiredoxin 2 (PRDX2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 35 Thioredoxin. anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals thioredoxin peroxidase activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 CGGCGCTCACCTTTGTAGTCC 0.642000 41 6 0 0 0.001168 0 0 SSTR5 6755 broad.mit.edu 37 16 1129746 1129746 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr16:1129746C>T uc021taf.1 + 1 949 c.878C>T c.(877-879)tCc>tTc p.S293F LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Missense_Mutation_p.S293F NM_001172560 NP_001166031 P35346 SSR5_HUMAN Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA. 293 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) GTCATCCTCTCCTACGCCAAC 0.622000 42 6 0 0 0.001168 0 0 CRYAA 1409 broad.mit.edu 37 21 44589331 44589331 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr21:44589331C>T uc002zdd.1 + 0 191 c.122C>T c.(121-123)tCg>tTg p.S41L NM_000394 NP_000385 P02489 CRYAA_HUMAN Homo sapiens crystallin, alpha A (CRYAA), mRNA. 41 anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception cytoplasm|nucleus structural constituent of eye lens|unfolded protein binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 CCCTTCCTGTCGTCCACCATC 0.632000 185 25 0 0 0.006320 0 0 DNAJC7 7266 broad.mit.edu 37 17 40169387 40169387 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:40169387C>T uc002hyo.3 - 0 329 c.48G>A c.(46-48)ccG>ccA p.P16P DNAJC7_uc010wgb.2_5'Flank|DNAJC7_uc002hyp.3_5'UTR|DNAJC7_uc010wgc.2_5'UTR|DNAJC7_uc010cxw.3_5'Flank|NKIRAS2_uc002hyq.3_5'Flank|NKIRAS2_uc010wgd.2_5'Flank|NKIRAS2_uc002hyr.3_5'Flank|NKIRAS2_uc002hys.3_5'Flank|NKIRAS2_uc010wge.2_5'Flank|NKIRAS2_uc002hyt.3_5'Flank NM_003315 NP_001138238 Q99615 DNJC7_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 7 (DNAJC7), transcript variant 1, mRNA. 16 chaperone cofactor-dependent protein refolding cytoplasm|cytoskeleton|nucleus heat shock protein binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1) 9 all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305) CGAGCAGCTCCGGCTCGGTCG 0.652000 139 16 0 0 0.003163 0 0 IGSF9B 22997 broad.mit.edu 37 11 133801388 133801388 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:133801388G>A uc001qgx.4 - 9 1559 c.1328C>T c.(1327-1329)gCt>gTt p.A443V IGSF9B_uc001qgy.1_Missense_Mutation_p.A285V NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA. 443 Ig-like 5. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCCTGCGGCAGCACAGGGGAT 0.662000 72 8 0 0 0.003080 0 0 ZBTB3 79842 broad.mit.edu 37 11 62520117 62520117 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:62520117C>T uc001nuz.3 - 1 1292 c.1170G>A c.(1168-1170)caG>caA p.Q390Q NM_024784 NP_079060 Q9H5J0 ZBTB3_HUMAN Homo sapiens zinc finger and BTB domain containing 3 (ZBTB3), mRNA. 390 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 GCTGGGAGGGCTGTGCCCCAT 0.562000 71 9 0 0 0.004482 0 0 SPSB4 92369 broad.mit.edu 37 3 140785598 140785598 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:140785598G>A uc003ett.3 + 1 897 c.652G>A c.(652-654)Ggc>Agc p.G218S SPSB4_uc010hum.3_Missense_Mutation_p.G218S NM_080862 NP_543138 Q96A44 SPSB4_HUMAN Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA. 218 B30.2/SPRY. intracellular signal transduction cytoplasm protein binding biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1) 4 TGCCGTGTGGGGCCACTGTGA 0.622000 64 5 0 0 0.001168 0 0 SH3TC1 54436 broad.mit.edu 37 4 8218683 8218683 + Splice_Site SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr4:8218683G>A uc003gkv.4 + 7 730 c.629_splice c.e7-1 p.G210_splice SH3TC1_uc003gkw.4_Splice_Site_p.G134_splice|SH3TC1_uc003gkx.4_Intron NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA. 210 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 TCCTTTTGAAGGGCCCTTCTT 0.652000 78 17 0 0 0.001216 0 0 MYH4 4622 broad.mit.edu 37 17 10351223 10351223 + Missense_Mutation SNP A G G TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:10351223A>G uc002gmn.3 - 33 4988 c.4877T>C c.(4876-4878)cTt>cCt p.L1626P AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1626 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 CATTTCATTAAGATCTCCCTC 0.468000 93 11 0 0 0.000978 0 0 MDC1 9656 broad.mit.edu 37 6 30672858 30672858 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr6:30672858G>A uc003nrg.4 - 9 4542 c.4102C>T c.(4102-4104)Cct>Tct p.P1368S MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.P975S NM_014641 NP_055456 Q14676 MDC1_HUMAN Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA. 1368 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 GGGGCTATAGGGACAGTTGAT 0.547000 Other conserved DNA damage response genes 271 23 0 0 0.002299 0 0 CDC6 990 broad.mit.edu 37 17 38457848 38457849 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr17:38457848_38457849CC>TT uc002huj.1 + 10 1791_1792 c.1581_1582CC>TT c.(1579-1584)acccgt>acTTgt p.R528C NM_001254 NP_001245 Q99741 CDC6_HUMAN Homo sapiens cell division cycle 6 homolog (S. cerevisiae) (CDC6), mRNA. 528 DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|mitosis|negative regulation of DNA replication|negative regulation of cell proliferation|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity p.R528S(2) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 21 ACAAGGAAACCCGTTTGACAAA 0.416000 103 8 0 0 0.004672 0 0 INTS6 26512 broad.mit.edu 37 13 51950221 51950221 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr13:51950221C>T uc001vfk.3 - 12 2306 c.1692G>A c.(1690-1692)ttG>ttA p.L564L INTS6_uc001vfi.3_Silent_p.L248L|INTS6_uc001vfj.3_Silent_p.L551L|INTS6_uc001vfl.3_Silent_p.L386L NM_012141 NP_001035026 Q9UL03 INT6_HUMAN Homo sapiens integrator complex subunit 6 (INTS6), transcript variant 1, mRNA. 564 snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) GAGTGCTCTTCAAAAGATTAG 0.318000 25 5 0 0 0.001984 0 0 NUCB1 4924 broad.mit.edu 37 19 49409139 49409139 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr19:49409139C>T uc002plb.4 + 3 707 c.373C>T c.(373-375)Ccc>Tcc p.P125S NUCB1_uc002pla.3_Missense_Mutation_p.P125S NM_006184 NP_006175 Q02818 NUCB1_HUMAN Homo sapiens nucleobindin 1 (NUCB1), mRNA. 125 ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton DNA binding|calcium ion binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) CGAGCAGGATCCCAGTGAGCA 0.667000 31 6 0 0 0.001168 0 0 HCFC1 3054 broad.mit.edu 37 X 153219122 153219122 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:153219122G>A uc004fjp.3 - 17 4961 c.4433C>T c.(4432-4434)tCc>tTc p.S1478F NM_005334 NP_005325 P51610 HCFC1_HUMAN Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA. 1478 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGTCAGTGTGGAGGACACGGT 0.672000 79 12 0 0 0.001368 0 0 WDR72 256764 broad.mit.edu 37 15 53998215 53998215 + Nonsense_Mutation SNP G T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr15:53998215G>T uc002acj.2 - 9 1053 c.1011C>A c.(1009-1011)taC>taA p.Y337* WDR72_uc010bfi.1_Nonsense_Mutation_p.Y337* NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN Homo sapiens WD repeat domain 72 (WDR72), mRNA. 337 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) AAAGTACCTTGTAAAAAGGCT 0.398000 18 4 0.000602214 0.00080215 0.000602 1 0 SLC6A20 54716 broad.mit.edu 37 3 45823681 45823681 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr3:45823681G>A uc011bai.2 - 1 280 c.156C>T c.(154-156)atC>atT p.I52I SLC6A20_uc011baj.2_Silent_p.I52I NM_020208 NP_064593 Q9NP91 S6A20_HUMAN Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA. 52 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) TTCCCTCCACGATAAGCATGA 0.592000 67 12 0 0 0.002450 0 0 NELL2 4753 broad.mit.edu 37 12 44915913 44915913 + Missense_Mutation SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr12:44915913G>A uc010skz.1 - 18 2320 c.2195C>T c.(2194-2196)cCc>cTc p.P732L NELL2_uc001rof.3_Missense_Mutation_p.P681L|NELL2_uc001rog.2_Missense_Mutation_p.P682L|NELL2_uc001roh.2_Missense_Mutation_p.P682L|NELL2_uc009zkd.2_Missense_Mutation_p.P634L|NELL2_uc010sla.1_Missense_Mutation_p.P705L NM_001145107 NP_006150 Q99435 NELL2_HUMAN Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA. 682 VWFC 4. 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) ATCAACTGTGGGATTCTCACA 0.428000 34 5 0 0 0.000602 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18142719 18142720 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr20:18142719_18142720CC>TT uc021wbb.1 + 4 1375_1376 c.938_939CC>TT c.(937-939)tcc>tTT p.S313F CSRP2BP_uc002wqk.3_Missense_Mutation_p.S185F|CSRP2BP_uc010zru.2_Missense_Mutation_p.S184F NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA. 313 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 ATTGACTTTTCCTCCTTGAGCT 0.530000 66 6 0 0 0.004672 0 0 WWC3 55841 broad.mit.edu 37 X 10085396 10085396 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:10085396C>T uc004csx.4 + 10 1495 c.1297C>T c.(1297-1299)Ccc>Tcc p.P433S WWC3_uc010nds.3_Missense_Mutation_p.P97S|WWC3_uc010ndt.3_Non-coding_Transcript NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN Homo sapiens WWC family member 3 (WWC3), mRNA. 433 Ser-rich. NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 GCCCCCAGGCCCCTCGGGCTT 0.662000 84 20 0 0 0.001216 0 0 SLC5A6 8884 broad.mit.edu 37 2 27428297 27428297 + Missense_Mutation SNP T C C TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr2:27428297T>C uc010eyv.1 - 7 977 c.655A>G c.(655-657)Att>Gtt p.I219V SLC5A6_uc002rjd.3_Missense_Mutation_p.I219V NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA. 219 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) GACCCCACAATGATAACTGCC 0.592000 131 24 0 0 0.003954 0 0 MAOB 4129 broad.mit.edu 37 X 43656393 43656393 + Silent SNP G A A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:43656393G>A uc004dfz.4 - 5 773 c.597C>T c.(595-597)atC>atT p.I199I MAOB_uc011mkx.2_Silent_p.I183I|MAOB_uc011mky.2_Silent_p.I183I NM_000898 NP_000889 P27338 AOFB_HUMAN Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA. 199 xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) TTGTTGTCGAGATGATTCTTG 0.463000 20 4 0 0 0.000248 0 0 MAPK4 5596 broad.mit.edu 37 18 48190559 48190559 + Silent SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr18:48190559C>T uc002lev.3 + 1 1231 c.231C>T c.(229-231)atC>atT p.I77I MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Silent_p.I77I NM_002747 NP_002738 P31152 MK04_HUMAN Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA. 77 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) ACGACAACATCGTCAAAGTGT 0.582000 62 12 0 0 0.001368 0 0 CDH9 1007 broad.mit.edu 37 5 26881634 26881634 + Missense_Mutation SNP C T T TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:26881634C>T uc003jgs.1 - 11 2150 c.1981G>A c.(1981-1983)Gat>Aat p.D661N CDH9_uc011cnv.1_Missense_Mutation_p.D254N NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA. 661 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D661Y(2) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CCGCCTTCATCGTTGTAGGTC 0.438000 45 7 0 0 0.001984 0 0 BLK 640 broad.mit.edu 37 8 11420487 11420488 + Splice_Site DNP GG AA AA TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr8:11420487_11420488GG>AA uc003wty.3 + 12 1762 c.1181_splice c.e12-1 p.G394_splice BLK_uc003wua.3_Splice_Site_p.G230_splice NM_001715 NP_001706 P51451 BLK_HUMAN Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA. 394 Protein kinase. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity p.?(1) 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) TTTTCCCACAGGGGCCAAGTTC 0.609000 78 8 0 0 0.004672 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149216400 149216402 + In_Frame_Del DEL CAG - - TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr5:149216400_149216402delCAG uc003lrc.3 + 7 2473_2475 c.2382_2384delCAG c.(2380-2385)gacagc>gac p.S799del PPARGC1B_uc003lrb.2_In_Frame_Del_p.S799del|PPARGC1B_uc003lrd.3_In_Frame_Del_p.S760del|PPARGC1B_uc021yfr.1_In_Frame_Del_p.S735del|PPARGC1B_uc003lre.1_In_Frame_Del_p.S778del|PPARGC1B_uc003lrf.3_In_Frame_Del_p.S778del NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA. 799 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity p.S795N(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCTTTGAAGACAGCAGCAGCAGC 0.601 --- 169 --- --- 9 --- PRDM12 59335 broad.mit.edu 37 9 133543701 133543702 + Splice_Site DEL GT - - TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr9:133543701_133543702delGT uc004bzt.1 + 3 630 c.570_splice c.e3+1 p.E190_splice NM_021619 NP_067632 Q9H4Q4 PRD12_HUMAN Homo sapiens PR domain containing 12 (PRDM12), mRNA. 190 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) GGCCATTGAGGTGTGTGTGTGT 0.594 --- 89 --- --- 7 --- SEC24C 9632 broad.mit.edu 37 10 75506612 75506612 + Frame_Shift_Del DEL C - - TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr10:75506612delC uc001juw.3 + 2 202 c.22delC c.(22-24)ccafs p.P8fs SEC24C_uc010qkn.2_Intron|SEC24C_uc009xrj.2_5'UTR|SEC24C_uc001jux.3_Frame_Shift_Del_p.P8fs|SEC24C_uc010qko.2_5'UTR|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron NM_004922 NP_940999 P53992 SC24C_HUMAN Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA. 8 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) CCAGTCAGTTCCACCTGTGCC 0.498 --- 87 --- --- 16 --- NUP98 4928 broad.mit.edu 37 11 3704526 3704527 + In_Frame_Ins INS - TGC TGC TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr11:3704526_3704527insTGC uc001lyh.3 - 29 5242_5243 c.4821_4822insGCA c.(4819-4824)insGCA p.1607_1608insA NUP98_uc001lyi.3_In_Frame_Ins_p.1533_1534insA|NUP98_uc001lyg.3_In_Frame_Ins_p.572_573insA NM_016320 NP_057404 P52948 NUP98_HUMAN Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA. 1624 DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) GATTCCATGTGTGCTCGCACAG 0.515 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML --- 67 --- --- 9 --- FAM155A 728215 broad.mit.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG - - TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chr13:108518687_108518689delCTG uc001vql.3 - 0 772_774 c.256_258delCAG c.(256-258)cagdel p.Q86del NM_001080396 NP_001073865 B1AL88 F155A_HUMAN Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA. 86 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 gccgctgcctctgctgctgctgc 0.719 --- 82 --- --- 10 --- SOX3 6658 broad.mit.edu 37 X 139586119 139586119 + Frame_Shift_Del DEL G - - TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b649bf67-c74a-4bb9-924f-e3a6f19ba77e 0f475c0a-f244-42ac-b00e-e70f0b5e35a5 g.chrX:139586119delG uc004fbd.1 - 0 1107 c.1107delC c.(1105-1107)cccfs p.P369fs NM_005634 NP_005625 P41225 SOX3_HUMAN Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA. 369 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 10 Acute lymphoblastic leukemia(192;7.65e-05) CCGAGCCCATGGGGCCCAGGC 0.751 --- 34 --- --- 8 ---