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 NOBOX 135935 broad.mit.edu 37 7 144101698 144101698 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:144101698G>A uc022aoj.1 - 1 161 c.161C>T c.(160-162)tCc>tTc p.S54F NM_001080413 NP_001073882 O60393 NOBOX_HUMAN Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA. 54 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) GATGAAGAAGGAGCTGAAAGA 0.577000 110 26 0 0 0.004656 0 0 MAPK14 1432 broad.mit.edu 37 6 36020474 36020474 + Splice_Site SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:36020474A>G uc003olq.3 + 2 598 c.117_splice c.e2-2 p.C39_splice MAPK14_uc011dth.2_Splice_Site_p.C39_splice|MAPK14_uc003olo.3_Splice_Site_p.C39_splice|MAPK14_uc003olp.3_Splice_Site_p.C39_splice|MAPK14_uc003olr.3_Splice_Site_p.C39_splice|MAPK14_uc011dti.2_Splice_Site NM_139012 NP_620581 Q16539 MK14_HUMAN Homo sapiens mitogen-activated protein kinase 14 (MAPK14), transcript variant 2, mRNA. 39 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding p.?(1) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 TTTTCTCCTTAGTGCTGCTTT 0.373000 63 16 0 0 0.007413 0 0 SAE1 10055 broad.mit.edu 37 19 47656285 47656285 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:47656285A>G uc002pgc.3 + 3 623 c.515A>G c.(514-516)cAt>cGt p.H172R SAE1_uc002pgd.3_Missense_Mutation_p.H172R|SAE1_uc010ekx.3_Missense_Mutation_p.H172R|SAE1_uc010ekw.3_Non-coding_Transcript|SAE1_uc010xyk.2_Intron|SAE1_uc002pge.3_Missense_Mutation_p.H108R NM_005500 NP_005491 Q9UBE0 SAE1_HUMAN Homo sapiens SUMO1 activating enzyme subunit 1 (SAE1), transcript variant 1, mRNA. 172 protein sumoylation|protein ubiquitination nucleus ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity endometrium(3)|large_intestine(5)|lung(4)|ovary(1) 13 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278) CTAGGAGAGCATGAGTTTGTA 0.333000 118 16 0 0 0.008871 0 0 TMEM38B 55151 broad.mit.edu 37 9 108457007 108457007 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:108457007C>T uc004bcu.1 + 0 183 c.66C>T c.(64-66)gaC>gaT p.D22D TMEM38B_uc010mtn.1_Silent_p.D22D NM_018112 NP_060582 Q9NVV0 TM38B_HUMAN Homo sapiens transmembrane protein 38B (TMEM38B), mRNA. 22 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 CCTTTTTTGACATCGCGCACT 0.632000 43 10 0 0 0.001368 0 0 OR8S1 341568 broad.mit.edu 37 12 48919450 48919450 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:48919450C>T uc010slu.2 + 0 36 c.36C>T c.(34-36)ttC>ttT p.F12F NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA. 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 TCACCGAGTTCCTCCTCCTTG 0.502000 106 45 0 0 0.002852 0 0 NLRC3 197358 broad.mit.edu 37 16 3600437 3600437 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:3600437C>T uc010btn.3 - 11 2820 c.2409G>A c.(2407-2409)gtG>gtA p.V803V NLRC3_uc010bto.1_Silent_p.V69V NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA. 804 I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GGCCCTGGTTCACCTTCAGGG 0.572000 23 10 0 0 0.001368 0 0 NLGN2 57555 broad.mit.edu 37 17 7319039 7319039 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:7319039A>G uc002ggt.1 + 5 1320 c.1247A>G c.(1246-1248)aAc>aGc p.N416S NM_020795 NP_065846 Q8NFZ4 NLGN2_HUMAN Homo sapiens neuroligin 2 (NLGN2), mRNA. 416 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) TTTGTGGACAACCTGTATGGC 0.562000 69 28 0 0 0.005443 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62687981 62687981 + Missense_Mutation SNP A C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:62687981A>C uc003peg.2 - 3 720 c.473T>G c.(472-474)tTc>tGc p.F158C NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA. 158 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) AGGAACCAGGAATTTTTTAAT 0.353000 59 16 0 0 0.008871 0 0 SCAMP2 10066 broad.mit.edu 37 15 75142926 75142927 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:75142926_75142927GG>AA uc002azb.1 - 5 634_635 c.560_561CC>TT c.(559-561)tcc>tTT p.S187F SCAMP2_uc002aza.1_Missense_Mutation_p.S37F NM_005697 NP_005688 O15127 SCAM2_HUMAN Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA. 187 post-Golgi vesicle-mediated transport|protein transport integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 9 ACCACAGGATGGAGAGGCCAAA 0.564000 60 37 0 0 0.004672 0 0 PODXL2 50512 broad.mit.edu 37 3 127379873 127379873 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:127379873C>T uc003ejq.2 + 2 1026 c.1002C>T c.(1000-1002)tcC>tcT p.S334S NM_015720 NP_056535 Q9NZ53 PDXL2_HUMAN Homo sapiens podocalyxin-like 2 (PODXL2), mRNA. 334 leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 26 CAGCCTCTTCCCCACTGGCCC 0.587000 28 24 0 0 0.007291 0 0 GFI1B 8328 broad.mit.edu 37 9 135864497 135864497 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:135864497G>A uc004ccg.3 + 4 915 c.560G>A c.(559-561)aGt>aAt p.S187N GFI1B_uc010mzy.3_Intron NM_004188 NP_004179 Q5VTD9 GFI1B_HUMAN Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA. 187 Interaction with ARIH2.|Mediates interaction with GATA1. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) CGCTCCCATAGTGGGACCCGG 0.667000 24 4 0 0 0.000248 0 0 FAM179A 165186 broad.mit.edu 37 2 29245103 29245103 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:29245103G>A uc010ezl.3 + 10 1791 c.1440G>A c.(1438-1440)aaG>aaA p.K480K FAM179A_uc010ymm.2_Silent_p.K425K|FAM179A_uc002rmr.4_Silent_p.K7K NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA. 480 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GAGCCTGTAAGGAGTTGAGGC 0.542000 57 31 0 0 0.001786 0 0 KIAA0564 23078 broad.mit.edu 37 13 42149909 42149909 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr13:42149909G>A uc001uyj.3 - 42 5407 c.5337C>T c.(5335-5337)ccC>ccT p.P1779P NM_015058 NP_055873 A3KMH1 K0564_HUMAN Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA. 1779 VWFA. extracellular region ATP binding|ATPase activity endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) TATTGTCCTTGGGGATTTTGT 0.348000 55 8 0 0 0.008291 0 0 MARS2 92935 broad.mit.edu 37 2 198571316 198571316 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:198571316A>G uc002uuq.3 + 0 1289 c.1187A>G c.(1186-1188)aAc>aGc p.N396S BC021693_uc002uup.3_Intron NM_138395 NP_612404 Q96GW9 SYMM_HUMAN Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA. 396 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) AAGTTGCTGAACTCCGAGCTG 0.522000 179 29 0 0 0.007291 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145273357 145273357 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:145273357T>C uc001emn.4 + 2 581 c.211T>C c.(211-213)Ttt>Ctt p.F71L NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.F71L|NOTCH2NL_uc001emo.2_Missense_Mutation_p.F71L|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA. 71 EGF-like 3. Notch signaling pathway|cell differentiation|multicellular organismal development cytoplasm|extracellular region calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 TCATCCATGCTTTGTGTCTCG 0.547000 858 72 0 0 0.003610 0 0 ACSM5 54988 broad.mit.edu 37 16 20451162 20451162 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:20451162C>T uc002dhe.3 + 12 1724 c.1577C>T c.(1576-1578)tCt>tTt p.S526F NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA. 526 fatty acid metabolic process mitochondrial matrix ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 GCCTACTCCTCTCATGACCCA 0.468000 56 33 0 0 0.007835 0 0 FOXM1 2305 broad.mit.edu 37 12 2975601 2975601 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:2975601G>A uc001qlf.3 - 4 1216 c.933C>T c.(931-933)caC>caT p.H311H FOXM1_uc001qle.3_Silent_p.H311H|FOXM1_uc009zea.3_Silent_p.H310H|FOXM1_uc009zeb.3_Silent_p.H310H|FOXM1_uc001qlg.3_Silent_p.H311H NM_021953 NP_068772 Q08050 FOXM1_HUMAN Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA. 311 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) TGGCACTGGGGTGAATGGTCC 0.522000 38 16 0 0 0.004990 0 0 TGM1 7051 broad.mit.edu 37 14 24731398 24731398 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:24731398C>T uc001wod.3 - 1 285 c.161G>A c.(160-162)cGa>cAa p.R54Q TGM1_uc010tog.2_5'UTR|TGM1_uc021rrn.1_5'Flank NM_000359 NP_000350 P22735 TGM1_HUMAN Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA. 54 Membrane anchorage region. cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) TGCCGCATTTCGGCATGAACA 0.647000 59 27 0 0 0.008361 0 0 VPS39 23339 broad.mit.edu 37 15 42481343 42481343 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:42481343T>C uc001zpd.3 - 5 495 c.344A>G c.(343-345)aAg>aGg p.K115R VPS39_uc001zpc.3_Missense_Mutation_p.K104R NM_015289 NP_056104 Q96JC1 VPS39_HUMAN Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA. 115 CNH. protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) TGATGCTCCCTTTGCCTTTGA 0.373000 32 10 0 0 0.001368 0 0 HIVEP2 3097 broad.mit.edu 37 6 143093438 143093438 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:143093438G>A uc003qjd.3 - 4 3181 c.2438C>T c.(2437-2439)tCa>tTa p.S813L NM_006734 NP_006725 P31629 ZEP2_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA. 813 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CCTTTCAAATGAATTGGGTCG 0.498000 29 22 0 0 0.001882 0 0 TNK2 10188 broad.mit.edu 37 3 195594769 195594769 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:195594769G>A uc003fvu.1 - 11 2898 c.2355C>T c.(2353-2355)tcC>tcT p.S785S TNK2_uc003fvq.1_Silent_p.S192S|TNK2_uc003fvr.1_Silent_p.S310S|TNK2_uc003fvs.1_Silent_p.S817S|TNK2_uc003fvt.1_Silent_p.S863S|TNK2_uc010hzw.1_Non-coding_Transcript NM_005781 NP_005772 Q07912 ACK1_HUMAN Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA. 785 EBD domain (By similarity).|Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) AGCCTTGAGGGGACAGGGGCT 0.716000 23 5 0 0 0.000602 0 0 MYO18B 84700 broad.mit.edu 37 22 26231332 26231332 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr22:26231332C>T uc003abz.1 + 16 3380 c.3130C>T c.(3130-3132)Cat>Tat p.H1044Y MYO18B_uc003aca.1_Missense_Mutation_p.H925Y|MYO18B_uc010guy.1_Missense_Mutation_p.H926Y|MYO18B_uc010guz.1_Missense_Mutation_p.H925Y|MYO18B_uc011aka.1_Missense_Mutation_p.H198Y|MYO18B_uc011akb.1_Missense_Mutation_p.H557Y NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 1044 Myosin head-like. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity p.H1045N(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 TGAGGAAGTCCATGTAGAGGG 0.582000 55 22 0 0 0.002299 0 0 ZNF484 83744 broad.mit.edu 37 9 95609334 95609334 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:95609334G>A uc004asu.1 - 4 1884 c.1735C>T c.(1735-1737)Cca>Tca p.P579S ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.P581S|ZNF484_uc004asv.1_Missense_Mutation_p.P543S|ZNF484_uc010mrb.1_Missense_Mutation_p.P543S NM_031486 NP_001007102 Q5JVG2 ZN484_HUMAN Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA. 579 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 CAAACATATGGTTTTTCCCCT 0.383000 55 27 0 0 0.005443 0 0 INPP5F 22876 broad.mit.edu 37 10 121557075 121557075 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:121557075T>C uc001leo.3 + 7 1187 c.971T>C c.(970-972)gTt>gCt p.V324A NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA. 324 SAC. phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) CTGTCATTTGTTCAAACACGA 0.438000 27 4 0 0 0.000602 0 0 CTIF 9811 broad.mit.edu 37 18 46284513 46284513 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr18:46284513A>G uc002ldd.3 + 8 1167 c.808A>G c.(808-810)Aat>Gat p.N270D CTIF_uc002ldc.3_Missense_Mutation_p.N270D|CTIF_uc002lde.4_5'Flank NM_001142397 NP_001135869 O43310 CTIF_HUMAN Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA. 270 Interaction with NCBP1/CBP80. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 CGCACACCGCAATGCCAAAGA 0.642000 21 15 0 0 0.004990 0 0 TNXB 7148 broad.mit.edu 37 6 32030067 32030067 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:32030067C>T uc003nzl.2 - 19 7237 c.7035G>A c.(7033-7035)aaG>aaA p.K2345K NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 2407 Fibronectin type-III 15. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCCGTGTTGCCTTGGGCTGCC 0.602000 242 117 0 0 0.003610 0 0 CSH2 1443 broad.mit.edu 37 17 61949648 61949648 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:61949648G>A uc002jch.3 - 4 607 c.492C>T c.(490-492)atC>atT p.I164I CSH2_uc002jci.3_3'UTR|CSH2_uc002jcg.3_Silent_p.I69I NM_020991 NP_066271 P01243 CSH_HUMAN Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA. 164 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 TCTGCTTGAGGATCTGCCCAG 0.552000 102 38 0 0 0.002222 0 0 MTF1 4520 broad.mit.edu 37 1 38304397 38304397 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:38304397T>C uc001cce.1 - 3 820 c.679A>G c.(679-681)Aaa>Gaa p.K227E MTF1_uc009vvj.1_5'UTR NM_005955 NP_005946 Q14872 MTF1_HUMAN Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA. 227 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TTAAACGTTTTCCCTGTGTGA 0.378000 52 18 0 0 0.001882 0 0 NDUFA9 4704 broad.mit.edu 37 12 4777656 4777656 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:4777656C>T uc001qnc.3 + 6 718 c.689C>T c.(688-690)tCc>tTc p.S230F NDUFA9_uc009zei.2_Silent_p.F269F|NDUFA9_uc010ses.2_Missense_Mutation_p.S11F NM_005002 NP_004993 Q16795 NDUA9_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA. 230 mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 NADH(DB00157) CCCCTTGGTTCCTTGGGCTGG 0.403000 98 45 0 0 0.003610 0 0 PTPRT 11122 broad.mit.edu 37 20 41400105 41400105 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:41400105C>T uc002xkg.3 - 4 838 c.654G>A c.(652-654)aaG>aaA p.K218K PTPRT_uc010ggj.3_Silent_p.K218K NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 218 Ig-like C2-type. K -> T (in a gastric cancer). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCTGAGACCACTTCCCACCAG 0.493000 125 58 0 0 0.003610 0 0 SPAG5 10615 broad.mit.edu 37 17 26918858 26918858 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:26918858T>C uc002hbq.3 - 3 1387 c.1295A>G c.(1294-1296)cAt>cGt p.H432R SPAG5_uc010waq.1_Intron NM_006461 NP_006452 Q96R06 SPAG5_HUMAN Homo sapiens sperm associated antigen 5 (SPAG5), mRNA. 432 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) TTCCAAGTCATGTCGAGACAA 0.557000 39 25 0 0 0.005443 0 0 GPT 2875 broad.mit.edu 37 8 145731495 145731495 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:145731495T>C uc003zdh.4 + 6 1160 c.937T>C c.(937-939)Tcc>Ccc p.S313P GPT_uc011llj.1_Missense_Mutation_p.L335P NM_005309 NP_005300 P24298 ALAT1_HUMAN Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA. 313 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCACTCCACCTCCAAGGGCTA 0.692000 43 4 0 0 0.000602 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52956469 52956469 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:52956469T>C uc001cty.2 - 7 1576 c.1323A>G c.(1321-1323)ttA>ttG p.L441L ZCCHC11_uc001ctx.2_Silent_p.L441L|ZCCHC11_uc009vze.1_Silent_p.L441L|ZCCHC11_uc009vzf.1_Silent_p.L200L|ZCCHC11_uc001cub.3_Silent_p.L441L|ZCCHC11_uc001cuc.2_Non-coding_Transcript NM_001009881 NP_001009881 Q5TAX3 TUT4_HUMAN Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA. 441 RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance cytoplasm|nucleolus RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 CATCTACATATAATACTAATA 0.294000 12 18 0 0 0.007413 0 0 ZNF683 257101 broad.mit.edu 37 1 26691406 26691406 + Missense_Mutation SNP G T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:26691406G>T uc001bmg.1 - 3 749 c.631C>A c.(631-633)Cta>Ata p.L211I ZNF683_uc001bmh.1_Missense_Mutation_p.L211I|ZNF683_uc009vsj.1_Missense_Mutation_p.L211I NM_173574 NP_775845 Q8IZ20 ZN683_HUMAN Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA. 211 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L211T(2)|p.L196T(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) TCAGAAGGTAGGGCCCCATAG 0.582000 24 10 5.16669e-11 9.0489e-11 0.000978 1 0 NOS1 4842 broad.mit.edu 37 12 117726018 117726018 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:117726018C>T uc001twn.2 - 4 1699 c.988G>A c.(988-990)Gga>Aga p.G330R NOS1_uc021ren.1_5'UTR|NOS1_uc021reo.1_5'UTR|NOS1_uc001twm.2_Missense_Mutation_p.G330R NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 330 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.T329T(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TCAGTGCATCCCGTTTCCTGG 0.517000 64 25 0 0 0.008361 0 0 DNAJB6 10049 broad.mit.edu 37 7 157159236 157159236 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:157159236A>G uc003wnk.3 + 3 371 c.216A>G c.(214-216)ggA>ggG p.G72G DNAJB6_uc003wnj.3_Silent_p.G72G|DNAJB6_uc003wnl.3_Silent_p.G59G|DNAJB6_uc011kvy.2_Silent_p.G23G|DNAJB6_uc011kvz.2_Silent_p.G72G|DNAJB6_uc010lqt.3_Silent_p.G72G NM_058246 NP_490647 O75190 DNJB6_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 6 (DNAJB6), transcript variant 1, mRNA. 72 Interaction with HSP70. intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein nucleus|perinuclear region of cytoplasm ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding central_nervous_system(1)|lung(1)|ovary(2)|stomach(1) 5 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) GCAAAGAAGGATTAAATGGTG 0.373000 132 10 0 0 0.008291 0 0 KBTBD12 166348 broad.mit.edu 37 3 127642829 127642829 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:127642829T>C uc010hsr.3 + 0 928 c.925T>C c.(925-927)Tat>Cat p.Y309H KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Missense_Mutation_p.Y309H NM_207335 NP_997218 Q3ZCT8 KBTBC_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA. 309 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 ACGGAAAACCTATTTCATCTC 0.418000 62 31 0 0 0.002096 0 0 XAB2 56949 broad.mit.edu 37 19 7685759 7685759 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:7685759G>A uc002mgx.3 - 13 1970 c.1944C>T c.(1942-1944)acC>acT p.T648T NM_020196 NP_064581 Q9HCS7 SYF1_HUMAN Homo sapiens XPA binding protein 2 (XAB2), mRNA. 648 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 AGATGCCGCGGGTGTGGGTGA 0.657000 Direct reversal of damage;Nucleotide excision repair (NER) 19 13 0 0 0.007413 0 0 IL25 64806 broad.mit.edu 37 14 23844966 23844966 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:23844966G>A uc001wjr.3 + 1 669 c.411G>A c.(409-411)caG>caA p.Q137Q IL25_uc001wjq.3_Silent_p.Q121Q|CMTM5_uc010akn.3_5'Flank|CMTM5_uc001wju.3_5'Flank|CMTM5_uc010ako.3_5'Flank|CMTM5_uc001wjs.3_5'Flank|CMTM5_uc001wjt.3_5'Flank|CMTM5_uc010akm.3_5'Flank NM_022789 NP_073626 Q9H293 IL25_HUMAN Homo sapiens interleukin 25 (IL25), transcript variant 1, mRNA. 137 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) ACCACAACCAGACTGTCTTCT 0.627000 48 22 0 0 0.002780 0 0 COL6A5 256076 broad.mit.edu 37 3 130095428 130095428 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:130095428T>C uc010htj.1 + 2 910 c.416T>C c.(415-417)gTg>gCg p.V139A COL6A5_uc010hti.1_Non-coding_Transcript NM_153264 NP_694996 A8TX70 CO6A5_HUMAN Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA. 139 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen p.V139L(1) endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 CCAATTTTGGTGGTCCTGGCT 0.527000 4 4 0 0 0.001168 0 0 IVNS1ABP 10625 broad.mit.edu 37 1 185276662 185276662 + Missense_Mutation SNP T A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:185276662T>A uc001grl.3 - 5 1113 c.490A>T c.(490-492)Att>Ttt p.I164F IVNS1ABP_uc001grj.3_5'Flank|IVNS1ABP_uc009wyj.3_5'UTR|IVNS1ABP_uc009wyk.3_Non-coding_Transcript NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN Homo sapiens influenza virus NS1A binding protein (IVNS1ABP), mRNA. 164 BACK.|Sufficient for AHR interaction and signaling. RNA splicing|interspecies interaction between organisms|response to virus|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2) 29 TCTTCAGAAATTTGTAACAAA 0.388000 82 9 0 0 0.006214 0 0 LRIT3 345193 broad.mit.edu 37 4 110791135 110791135 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:110791135C>T uc003hzx.4 + 2 1288 c.1095C>T c.(1093-1095)ttC>ttT p.F365F LRIT3_uc003hzw.4_Silent_p.F227F NM_198506 NP_940908 Q3SXY7 LRIT3_HUMAN Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA. 365 Ser-rich. integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) ctgcttccttctctttatctc 0.468000 54 24 0 0 0.002299 0 0 MCOLN2 255231 broad.mit.edu 37 1 85397205 85397205 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:85397205T>C uc001dkm.3 - 11 1623 c.1382A>G c.(1381-1383)aAc>aGc p.N461S MCOLN2_uc001dkn.3_Non-coding_Transcript NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN Homo sapiens mucolipin 2 (MCOLN2), mRNA. 461 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) GTCATCACCGTTGACCAGAGA 0.398000 52 13 0 0 0.002450 0 0 SLC4A2 6522 broad.mit.edu 37 7 150761827 150761827 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:150761827C>T uc022apz.1 + 3 1472 c.432C>T c.(430-432)tcC>tcT p.S144S SLC4A2_uc003wit.4_Silent_p.S144S|SLC4A2_uc011kve.2_Silent_p.S135S|SLC4A2_uc003wiu.4_Silent_p.S130S NM_001199692 NP_001186621 P04920 B3A2_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA. 144 Pro-rich. bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCAGCCGTCCCCTGTCTCCA 0.687000 76 5 0 0 0.001168 0 0 TMEM2 23670 broad.mit.edu 37 9 74312988 74312988 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:74312988T>C uc011lsa.1 - 19 4050 c.3510A>G c.(3508-3510)gcA>gcG p.A1170A TMEM2_uc011lrz.1_Silent_p.A163A|TMEM2_uc010mos.2_Silent_p.A1107A|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Silent_p.A4A NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA. 1170 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) ACTGTGGGTATGCTTTGGCCA 0.522000 37 18 0 0 0.004990 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171150 207171150 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:207171150G>A uc002vbp.2 + 4 2148 c.1898G>A c.(1897-1899)gGg>gAg p.G633E NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 633 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GTCTCACTTGGGACAGTTGCA 0.423000 85 39 0 0 0.002522 0 0 RAB15 376267 broad.mit.edu 37 14 65415205 65415205 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:65415205A>G uc021rut.1 - 6 587 c.506T>C c.(505-507)gTg>gCg p.V169A CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|RAB15_uc001xhz.2_3'UTR|RAB15_uc021rur.1_Non-coding_Transcript|RAB15_uc021rus.1_Non-coding_Transcript P59190 RAB15_HUMAN Homo sapiens RAB15, member RAS onocogene family (RAB15), mRNA. 169 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding p.R169S(1) endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 8 all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102) GGCCTGCAGCACCAGCTCTGT 0.617000 75 7 0 0 0.003080 0 0 C2orf71 388939 broad.mit.edu 37 2 29295010 29295010 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:29295010G>A uc002rmt.2 - 0 2118 c.2118C>T c.(2116-2118)atC>atT p.I706I NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA. 706 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CTCCTGATGGGATGGCATTTG 0.498000 61 27 0 0 0.004656 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166944751 166944751 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:166944751G>A uc003qvd.1 - 4 455 c.342C>T c.(340-342)gcC>gcT p.A114A RPS6KA2_uc011ego.1_5'UTR|RPS6KA2_uc010kkl.1_5'UTR|RPS6KA2_uc003qvb.1_Silent_p.A89A|RPS6KA2_uc003qvc.1_Silent_p.A97A NM_021135 NP_066958 Q15349 KS6A2_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA. 89 Protein kinase 1. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) GGACCTTCATGGCGTAGAGCT 0.507000 41 51 0 0 0.003610 0 0 SEC23B 10483 broad.mit.edu 37 20 18523695 18523695 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:18523695T>C uc002wra.2 + 13 2005 c.1544T>C c.(1543-1545)aTa>aCa p.I515T SEC23B_uc010zsb.2_Missense_Mutation_p.I497T|SEC23B_uc002wrb.2_Missense_Mutation_p.I515T|SEC23B_uc002wqz.2_Missense_Mutation_p.I515T|SEC23B_uc002wrc.2_Missense_Mutation_p.I515T NM_032985 NP_116781 Q15437 SC23B_HUMAN Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA. 515 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 CTCAGGCACATAGAAGCAGCA 0.547000 132 26 0 0 0.005443 0 0 TUBAL3 79861 broad.mit.edu 37 10 5437436 5437436 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:5437436C>T uc001ihy.3 - 2 288 c.250G>A c.(250-252)Ggg>Agg p.G84R TUBAL3_uc001ihz.3_Missense_Mutation_p.G44R NM_024803 NP_079079 A6NHL2 TBAL3_HUMAN Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA. 84 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 GTCCGGATCCCATCTGCAGAG 0.592000 57 53 0 0 0.003610 0 0 CDH17 1015 broad.mit.edu 37 8 95182670 95182670 + Missense_Mutation SNP G C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:95182670G>C uc003ygh.2 - 8 1146 c.1021C>G c.(1021-1023)Ccg>Gcg p.P341A CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.P341A NM_004063 NP_004054 Q12864 CAD17_HUMAN Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA. 341 Cadherin 4. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) ACTGGTGACGGACATGTAGGT 0.413000 149 21 0 0 0.001882 0 0 REXO1L1 254958 broad.mit.edu 37 8 86573772 86573772 + Nonsense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:86573772C>T uc022axf.1 - 0 1955 c.1955G>A c.(1954-1956)tGg>tAg p.W652* NM_172239 NP_758439 Q8IX06 GOR_HUMAN Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA. 652 cytoplasm|nucleus exonuclease activity|nucleic acid binding endometrium(1)|lung(4) 5 TCGGACCTTCCACATCACCAG 0.667000 89 5 0 0 0.001168 0 0 ZFAND2A 90637 broad.mit.edu 37 7 1197308 1197309 + Missense_Mutation DNP GG AA AA rs111354345 byFrequency TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:1197308_1197309GG>AA uc003skd.4 - 2 434_435 c.133_134CC>TT c.(133-135)ccg>TTg p.P45L ZFAND2A_uc003skc.3_Missense_Mutation_p.P45L|ZFAND2A_uc021zyp.1_5'Flank|AK090593_uc003skf.1_5'Flank Q8N6M9 ZFN2A_HUMAN Homo sapiens zinc finger, AN1-type domain 2A (ZFAND2A), mRNA. 45 cytoplasm|nucleus zinc ion binding lung(2)|ovary(1) 3 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15) GAATGCAAACGGACACTTATGT 0.391000 212 70 0 0 0.004672 0 0 SEPT4 5414 broad.mit.edu 37 17 56604107 56604107 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:56604107G>A uc010wnx.2 - 2 483 c.338C>T c.(337-339)cCt>cTt p.P113L SEPT4_uc002iwk.2_5'UTR|SEPT4_uc010wnw.2_5'UTR|SEPT4_uc002iwl.2_5'UTR|SEPT4_uc002iwm.2_Missense_Mutation_p.P98L|SEPT4_uc002iwo.2_Missense_Mutation_p.P79L|SEPT4_uc002iwp.2_Missense_Mutation_p.P79L|SEPT4_uc010wny.2_Missense_Mutation_p.P90L|SEPT4_uc010dcy.2_Intron NM_080416 NP_536341 O43236 SEPT4_HUMAN Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA. 98 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGGGCTGAGAGGGGCTGGGGC 0.632000 52 26 0 0 0.007291 0 0 SEMA3A 10371 broad.mit.edu 37 7 83590917 83590917 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:83590917T>C uc003uhz.3 - 16 2401 c.2086A>G c.(2086-2088)Aca>Gca p.T696A NM_006080 NP_006071 Q14563 SEM3A_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA. 696 axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 TGGCTAGGTGTCATGCTATTG 0.438000 188 33 0 0 0.004878 0 0 CCDC74A 90557 broad.mit.edu 37 2 132290319 132290319 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:132290319G>A uc002tta.3 + 4 893 c.841G>A c.(841-843)Gag>Aag p.E281K CCDC74A_uc002ttb.3_Missense_Mutation_p.E215K|CCDC74A_uc021vpq.1_Intron|CCDC74A_uc021vpr.1_Missense_Mutation_p.E278K NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA. 281 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 GCTCATCCGCGAGCTGTGGAA 0.677000 42 23 0 0 0.002299 0 0 EP400NL 347918 broad.mit.edu 37 12 132611123 132611123 + RNA SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:132611123A>G uc001ujx.1 + 6 c.2029A>G Homo sapiens EP400 N-terminal like (EP400NL), non-coding RNA. endometrium(1)|lung(1)|prostate(2)|urinary_tract(1) 5 ATGCCATATCACGTCCTGTAG 0.473000 21 4 0 0 0.000602 0 0 PCYT2 5833 broad.mit.edu 37 17 79864054 79864054 + Splice_Site SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:79864054C>T uc002kcf.2 - 9 869 c.760_splice c.e9-1 p.E254_splice PCYT2_uc010wvb.2_Splice_Site_p.E222_splice|PCYT2_uc002kce.2_Splice_Site_p.E176_splice|PCYT2_uc002kch.2_Splice_Site_p.E272_splice|PCYT2_uc002kci.2_Splice_Site_p.E213_splice|PCYT2_uc010wvc.2_Splice_Site_p.E176_splice NM_002861 NP_002852 Q99447 PCY2_HUMAN Homo sapiens phosphate cytidylyltransferase 2, ethanolamine (PCYT2), transcript variant 2, mRNA. 254 Catalytic 2 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity breast(2)|endometrium(1)|lung(4)|ovary(1) 8 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GATTGACCTCCTGCGGCCAGA 0.627000 13 3 0 0 0.004672 0 0 TSPAN1 10103 broad.mit.edu 37 1 46650955 46650955 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:46650955T>C uc001cpd.3 + 7 1127 c.653T>C c.(652-654)gTg>gCg p.V218A NM_005727 NP_005718 O60635 TSN1_HUMAN Homo sapiens tetraspanin 1 (TSPAN1), mRNA. 218 integral to membrane|lysosomal membrane kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Acute lymphoblastic leukemia(166;0.155) Medulloblastoma(700;0.00498)|all_neural(321;0.0212) GTGGGTGGTGTGGCAGCTGGA 0.542000 166 42 0 0 0.003610 0 0 PELI2 57161 broad.mit.edu 37 14 56757136 56757136 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:56757136T>C uc001xch.3 + 4 944 c.658T>C c.(658-660)Ttg>Ctg p.L220L NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA. 220 MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 TGTGTACACCTTGCGAGAAAC 0.562000 100 12 0 0 0.001855 0 0 MYO1F 4542 broad.mit.edu 37 19 8595445 8595446 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:8595445_8595446CC>TT uc002mkg.3 - 19 2193_2194 c.2055_2056GG>AA c.(2053-2058)ctggag>ctAAag p.E686K NM_012335 NP_036467 O00160 MYO1F_HUMAN Homo sapiens myosin IF (MYO1F), mRNA. 686 unconventional myosin complex ATP binding|actin binding|calmodulin binding|motor activity p.L685M(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CGCACCTCCTCCAGGAGGAAAA 0.649000 69 26 0 0 0.004672 0 0 UNC13B 10497 broad.mit.edu 37 9 35403756 35403756 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:35403756A>G uc003zwr.3 + 39 4851 c.4559A>G c.(4558-4560)aAt>aGt p.N1520S UNC13B_uc003zwq.3_Missense_Mutation_p.N1501S|ATP8B5P_uc010mko.3_5'Flank|ATP8B5P_uc010mkp.3_5'Flank|ATP8B5P_uc010mkn.2_5'Flank|ATP8B5P_uc003zwu.2_5'Flank NM_006377 NP_006368 O14795 UN13B_HUMAN Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA. 1501 C2 3. excretion|induction of apoptosis|intracellular signal transduction Golgi apparatus|cell junction|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) CTCCTGGGAAATGAGGAGGGG 0.572000 41 18 0 0 0.006122 0 0 HIVEP1 3096 broad.mit.edu 37 6 12162052 12162053 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:12162052_12162053CC>TT uc003nac.3 + 7 7047_7048 c.6868_6869CC>TT c.(6868-6870)ccg>TTg p.P2290L HIVEP1_uc011diq.2_Non-coding_Transcript NM_002114 NP_002105 P15822 ZEP1_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA. 2290 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CGACACAATTCCGTCTGTAGAC 0.505000 57 28 0 0 0.004672 0 0 ZDHHC9 51114 broad.mit.edu 37 X 128963076 128963076 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrX:128963076A>G uc004euv.3 - 2 671 c.209T>C c.(208-210)gTa>gCa p.V70A ZDHHC9_uc004euw.3_Missense_Mutation_p.V70A|ZDHHC9_uc004eux.1_Missense_Mutation_p.V70A|ZDHHC9_uc004euy.1_5'UTR NM_001008222 NP_057116 Q9Y397 ZDHC9_HUMAN Homo sapiens zinc finger, DHHC-type containing 9 (ZDHHC9), transcript variant 2, mRNA. 70 Golgi membrane|endoplasmic reticulum membrane|integral to membrane acyltransferase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 19 GGCAGCAAATACAGGGATGGC 0.502000 34 13 0 0 0.003163 0 0 FAM47B 170062 broad.mit.edu 37 X 34962049 34962050 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrX:34962049_34962050GG>AA uc004ddi.2 + 0 1137_1138 c.1101_1102GG>AA c.(1099-1104)caggag>caAAag p.E368K NM_152631 NP_689844 Q8NA70 FA47B_HUMAN Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA. 368 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GTGAGGGCCAGGAGATGACAAC 0.545000 7 12 0 0 0.004672 0 0 MAP3K9 4293 broad.mit.edu 37 14 71199482 71199482 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:71199482C>T uc001xmm.3 - 10 2604 c.2604G>A c.(2602-2604)gaG>gaA p.E868E MAP3K9_uc010ttk.2_Silent_p.E596E|MAP3K9_uc001xmk.3_Silent_p.E601E|MAP3K9_uc001xml.3_Silent_p.E882E NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 868 Pro-rich. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GGGGAGGGGCCTCGACTGGGC 0.572000 68 11 0 0 0.000978 0 0 ASXL3 80816 broad.mit.edu 37 18 31323920 31323920 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr18:31323920C>T uc010dmg.1 + 11 4163 c.4108C>T c.(4108-4110)Cct>Tct p.P1370S ASXL3_uc002kxq.2_Missense_Mutation_p.P1077S NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1370 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 CAACAGATTTCCTTCTGAGAA 0.498000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 41 0 0 0.006230 0 0 PRRT3 285368 broad.mit.edu 37 3 9990874 9990874 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:9990874T>C uc003bul.2 - 1 1056 c.926A>G c.(925-927)cAg>cGg p.Q309R CIDEC_uc003bto.3_Intron|PRRT3_uc003buk.2_Non-coding_Transcript|PRRT3_uc003bum.3_Missense_Mutation_p.Q309R NM_207351 NP_997234 Q5FWE3 PRRT3_HUMAN Homo sapiens proline-rich transmembrane protein 3 (PRRT3), mRNA. 309 Pro-rich. integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 AAGGTCAGCCTGCTTGGGCGG 0.642000 84 31 0 0 0.002836 0 0 ZNF132 7691 broad.mit.edu 37 19 58944838 58944838 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:58944838A>G uc002qst.4 - 2 2374 c.1973T>C c.(1972-1974)aTc>aCc p.I658T NM_003433 NP_003424 P52740 ZN132_HUMAN Homo sapiens zinc finger protein 132 (ZNF132), mRNA. 658 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) TCCACACTGGATGCACTCATA 0.478000 24 5 0 0 0.000602 0 0 CRTC3 64784 broad.mit.edu 37 15 91169201 91169201 + Missense_Mutation SNP C A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:91169201C>A uc002bpp.3 + 9 1049 c.943C>A c.(943-945)Cac>Aac p.H315N CRTC3_uc002bpo.3_Missense_Mutation_p.H315N NM_022769 NP_073606 Q6UUV7 CRTC3_HUMAN Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA. 315 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) TGCTATGACCCACCTGGGTAT 0.547000 T MAML2 salivary gland mucoepidermoid 144 7 0.00448238 0.0077044 0.004482 1 0 C1S 716 broad.mit.edu 37 12 7171655 7171656 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:7171655_7171656CC>TT uc001qsj.3 + 7 1195_1196 c.476_477CC>TT c.(475-477)ccc>cTT p.P159L C1S_uc001qsk.3_Missense_Mutation_p.P159L|C1S_uc001qsl.3_Missense_Mutation_p.P159L|C1S_uc009zfr.3_5'UTR|C1S_uc009zfs.3_Non-coding_Transcript NM_201442 NP_958850 P09871 C1S_HUMAN Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA. 159 EGF-like; calcium-binding. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TGCTCCTGCCCCCCGGAATATT 0.455000 88 49 0 0 0.004672 0 0 CDC27 996 broad.mit.edu 37 17 45234395 45234395 + Silent SNP A T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:45234395A>T uc002ile.4 - 6 853 c.726T>A c.(724-726)ccT>ccA p.P242P CDC27_uc002ild.4_Silent_p.P242P|CDC27_uc002ilf.4_Silent_p.P242P|CDC27_uc010wkp.2_Silent_p.P181P|CDC27_uc010wkq.1_Non-coding_Transcript NM_001114091 NP_001107563 P30260 CDC27_HUMAN Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA. 242 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 GGACAGTATCAGGTGAAATTA 0.358000 35 6 0 0 0.001984 0 0 PRRC2A 7916 broad.mit.edu 37 6 31604046 31604046 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:31604046A>G uc003nvb.4 + 25 5934 c.5685A>G c.(5683-5685)ttA>ttG p.L1895L PRRC2A_uc003nvc.4_Silent_p.L1895L NM_080686 NP_542417 P48634 PRC2A_HUMAN Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA. 1895 L -> V (in dbSNP:rs3132453). cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 TCTCTGGGTTAGCTCTCAAGG 0.547000 114 19 0 0 0.008871 0 0 CMPK2 129607 broad.mit.edu 37 2 6991653 6991653 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:6991653C>T uc002qyo.3 - 3 1263 c.1154G>A c.(1153-1155)aGg>aAg p.R385K CMPK2_uc002qyn.1_Non-coding_Transcript|CMPK2_uc010yis.1_Intron|CMPK2_uc010ewv.3_Missense_Mutation_p.R385K NM_207315 NP_997198 Q5EBM0 CMPK2_HUMAN Homo sapiens cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial (CMPK2), nuclear gene encoding mitochondrial protein, mRNA. 385 dTDP biosynthetic process mitochondrion ATP binding|UMP kinase activity|cytidylate kinase activity|thymidylate kinase activity p.R385K(2) large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GCCCTGCAGCCTCTGCAACCT 0.567000 51 27 0 0 0.008361 0 0 PRR14 78994 broad.mit.edu 37 16 30664151 30664151 + Missense_Mutation SNP C G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:30664151C>G uc002dyy.3 + 3 560 c.302C>G c.(301-303)tCc>tGc p.S101C PRR14_uc002dyz.3_5'UTR|PRR14_uc002dza.3_Missense_Mutation_p.S101C|PRR14_uc002dzb.1_5'Flank NM_024031 NP_076936 Q9BWN1 PRR14_HUMAN Homo sapiens proline rich 14 (PRR14), mRNA. 101 Pro-rich. breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) GCCGGGTGGTCCTCGCAGGCC 0.642000 30 4 0 0 0.000248 0 0 SLC34A2 10568 broad.mit.edu 37 4 25664141 25664141 + Missense_Mutation SNP T A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:25664141T>A uc003grr.3 + 1 100 c.19T>A c.(19-21)Ttg>Atg p.L7M SLC34A2_uc003grs.3_Missense_Mutation_p.L7M|SLC34A2_uc010iev.3_Missense_Mutation_p.L7M NM_006424 NP_006415 O95436 NPT2B_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA. 7 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) CTGGCCTGAATTGGGAGATGC 0.527000 T ROS1 NSCLC 33 19 0 0 0.007413 0 0 MED7 9443 broad.mit.edu 37 5 156566260 156566260 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:156566260A>G uc010jik.3 - 1 575 c.183T>C c.(181-183)agT>agC p.S61S MED7_uc003lwm.4_Silent_p.S61S|MED7_uc021ygl.1_Silent_p.S61S NM_001100816 NP_004261 O43513 MED7_HUMAN Homo sapiens mediator complex subunit 7 (MED7), transcript variant 1, mRNA. 61 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex protein binding|transcription coactivator activity kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2) 7 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CGATGCCCTGACTTTCCAAAG 0.403000 341 98 0 0 0.003610 0 0 abParts 0 broad.mit.edu 37 14 106471478 106471478 + RNA SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:106471478G>A uc021ser.1 - 2492 c.43512C>T Parts of antibodies, mostly variable regions. AGCCTTGCAGGAAACCTTCAC 0.577000 72 7 0 0 0.004482 0 0 ZFP112 7771 broad.mit.edu 37 19 44891897 44891897 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:44891897G>A uc010xxa.2 - 3 574 c.531C>T c.(529-531)taC>taT p.Y177Y ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Silent_p.Y170Y NM_152354 NP_689567 Q9UJU3 ZF112_HUMAN Homo sapiens zinc finger protein 285 (ZNF285), mRNA. 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3) 41 TCTCTTCCATGTAAATTCCCT 0.478000 61 18 0 0 0.007413 0 0 KCTD4 386618 broad.mit.edu 37 13 45768425 45768425 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr13:45768425A>G uc001uzx.4 - 1 682 c.278T>C c.(277-279)cTa>cCa p.L93P GTF2F2_uc001uzw.3_Intron|KCTD4_uc021rjf.1_Missense_Mutation_p.L93P NM_198404 NP_940686 Q8WVF5 KCTD4_HUMAN Homo sapiens potassium channel tetramerisation domain containing 4 (KCTD4), mRNA. 93 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207) TCCATTTCGTAGGAAGTTTAG 0.438000 79 19 0 0 0.001523 0 0 SPEF2 79925 broad.mit.edu 37 5 35792479 35792479 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:35792479C>T uc003jjo.3 + 30 4596 c.4485C>T c.(4483-4485)atC>atT p.I1495I SPEF2_uc003jjp.1_Silent_p.I981I|SPEF2_uc003jjr.3_Silent_p.I550I NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1495 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACATTCTGATCGATTTGGTGA 0.358000 59 35 0 0 0.003271 0 0 HRNR 388697 broad.mit.edu 37 1 152191823 152191823 + Missense_Mutation SNP T G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:152191823T>G uc001ezt.1 - 2 2358 c.2282A>C c.(2281-2283)cAa>cCa p.Q761P NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 761 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) GCCCGAAGATTGATGGGAGCC 0.582000 104 22 0 0 0.001882 0 0 HIST2H2BE 8349 broad.mit.edu 37 1 149857936 149857936 + Missense_Mutation SNP G C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:149857936G>C uc001etc.3 - 0 297 c.255C>G c.(253-255)aaC>aaG p.N85K HIST2H2AC_uc001etd.3_5'Flank NM_003528 NP_003519 Q16778 H2B2E_HUMAN Homo sapiens histone cluster 2, H2be (HIST2H2BE), mRNA. 85 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 14 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) TGGAGCGCTTGTTGTAGTGCG 0.657000 77 8 0 0 0.004482 0 0 FBN3 84467 broad.mit.edu 37 19 8190870 8190870 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:8190870G>A uc002mjf.3 - 20 2654 c.2637C>T c.(2635-2637)gtC>gtT p.V879V NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 879 EGF-like 11; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CGTTGGGACAGACTCCCGGGA 0.642000 33 18 0 0 0.006122 0 0 SYNE1 23345 broad.mit.edu 37 6 152553293 152553294 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:152553293_152553294GG>AA uc021zhb.1 - 110 21042_21043 c.20819_20820CC>TT c.(20818-20820)tcc>tTT p.S6940F SYNE1_uc003qos.4_Missense_Mutation_p.S1464F|SYNE1_uc003qot.4_Missense_Mutation_p.S6869F|SYNE1_uc003qou.4_Missense_Mutation_p.S6940F NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 6940 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGTAACCTATGGAATTTTTAAT 0.292000 HNSCC(10;0.0054) 44 27 0 0 0.004672 0 0 ANO3 63982 broad.mit.edu 37 11 26620444 26620444 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:26620444A>G uc001mqt.4 + 15 1715 c.1570A>G c.(1570-1572)Atg>Gtg p.M524V ANO3_uc010rdr.2_Missense_Mutation_p.M508V|ANO3_uc010rds.2_Missense_Mutation_p.M363V|ANO3_uc010rdt.2_Missense_Mutation_p.M378V NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN Homo sapiens anoctamin 3 (ANO3), mRNA. 524 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 GTATTACAAGATGGAGATTGT 0.393000 29 3 0 0 0.004672 0 0 COL5A2 1290 broad.mit.edu 37 2 189922126 189922126 + Missense_Mutation SNP C G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:189922126C>G uc002uqk.3 - 33 2532 c.2257G>C c.(2257-2259)Gga>Cga p.G753R COL5A2_uc010frx.3_Missense_Mutation_p.G329R NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 753 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCTGTATCTCCAGGGGTCCCA 0.438000 62 32 0 0 0.004878 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92669426 92669427 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:92669426_92669427CC>TT uc002bqx.2 + 5 1511_1512 c.1310_1311CC>TT c.(1309-1311)tcc>tTT p.S437F SLCO3A1_uc002bqy.2_Missense_Mutation_p.S437F|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.S379F NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA. 437 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity p.V436I(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) TGCTACGTCTCCTTCCTCTTCC 0.589000 59 19 0 0 0.004672 0 0 C9orf24 84688 broad.mit.edu 37 9 34379691 34379691 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:34379691A>G uc003zuh.1 - 5 960 c.742T>C c.(742-744)Tgc>Cgc p.C248R KIAA1161_uc003zue.4_5'Flank|C9orf24_uc003zug.1_Missense_Mutation_p.C113R|C9orf24_uc022bgb.1_Silent_p.C114C|C9orf24_uc003zuf.1_Silent_p.C61C|C9orf24_uc003zui.1_3'UTR NM_032596 NP_115985 Q8NCR6 CI024_HUMAN Homo sapiens chromosome 9 open reading frame 24 (C9orf24), transcript variant 1, mRNA. 248 endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.123) TTGTAACAGCACACTGCATTC 0.567000 OREG0019150 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 124 18 0 0 0.001523 0 0 IFT172 26160 broad.mit.edu 37 2 27700134 27700134 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:27700134A>G uc002rku.3 - 12 1326 c.1275T>C c.(1273-1275)aaT>aaC p.N425N IFT172_uc002rkv.3_Silent_p.N399N|IFT172_uc010yls.2_Silent_p.N404N|IFT172_uc010ezc.3_Silent_p.N425N NM_015662 NP_056477 Q9UG01 IF172_HUMAN Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA. 425 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) CCAGGGTGTCATTATTCCCAT 0.443000 115 65 0 0 0.003610 0 0 SEC62 7095 broad.mit.edu 37 3 169700534 169700534 + Silent SNP A G G rs140128825 byFrequency TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:169700534A>G uc003fgg.3 + 3 322 c.291A>G c.(289-291)gtA>gtG p.V97V SEC62_uc003fgh.3_Silent_p.V97V NM_003262 NP_003253 Q99442 SEC62_HUMAN Homo sapiens SEC62 homolog (S. cerevisiae) (SEC62), mRNA. 97 cotranslational protein targeting to membrane|transmembrane transport aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum protein transporter activity|receptor activity NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 9 CCCTAAAAGTAATGAAAATGA 0.308000 78 47 0 0 0.003610 0 0 GRID2 2895 broad.mit.edu 37 4 94137898 94137898 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:94137898G>A uc011cdt.2 + 5 1057 c.799G>A c.(799-801)Gat>Aat p.D267N GRID2_uc010ikx.3_Missense_Mutation_p.D267N|GRID2_uc011cdu.2_Missense_Mutation_p.D172N|GRID2_uc010ikz.1_5'UTR NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 267 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GGAAATAAACGATGTGGACGT 0.378000 76 23 0 0 0.004656 0 0 COL23A1 91522 broad.mit.edu 37 5 177688739 177688739 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:177688739C>T uc021yiz.1 - 10 1044 c.686G>A c.(685-687)gGa>gAa p.G229E COL23A1_uc021yiy.1_Missense_Mutation_p.G5E|COL23A1_uc010jkt.2_Missense_Mutation_p.D77N NM_173465 NP_775736 Q86Y22 CONA1_HUMAN Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA. 229 Collagen-like 1.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) CCCTGGGGGTCCCTTTGGGCC 0.562000 23 19 0 0 0.003954 0 0 TCF15 6939 broad.mit.edu 37 20 590585 590585 + Missense_Mutation SNP G C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:590585G>C uc002wdz.3 - 0 326 c.297C>G c.(295-297)atC>atG p.I99M NM_004609 NP_004600 Q12870 TCF15_HUMAN Homo sapiens transcription factor 15 (basic helix-loop-helix) (TCF15), mRNA. 99 Helix-loop-helix motif. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|lung(2)|prostate(1) 4 Breast(17;0.231) GCTCGGTGGGGATGAGCGTGC 0.706000 10 3 0 0 0.000248 0 0 ADCY1 107 broad.mit.edu 37 7 45717529 45717529 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:45717529T>C uc003tne.4 + 8 1685 c.1667T>C c.(1666-1668)gTt>gCt p.V556A NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 556 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) TCTACCAACGTTGTCTACACC 0.507000 89 15 0 0 0.004990 0 0 COL7A1 1294 broad.mit.edu 37 3 48630557 48630557 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:48630557A>G uc003ctz.2 - 4 661 c.660T>C c.(658-660)ggT>ggC p.G220G NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 220 Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CAGGCACGCCACCAGCAGTCG 0.587000 44 6 0 0 0.001984 0 0 TCF4 6925 broad.mit.edu 37 18 52921859 52921859 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr18:52921859G>A uc002lga.3 - 15 1585 c.1525C>T c.(1525-1527)Cca>Tca p.P509S TCF4_uc021ukg.1_Missense_Mutation_p.P247S|TCF4_uc021ukh.1_Missense_Mutation_p.P247S|TCF4_uc002lfw.4_Missense_Mutation_p.P247S|TCF4_uc010xdu.1_Missense_Mutation_p.P277S|TCF4_uc010xdv.1_Missense_Mutation_p.P277S|TCF4_uc021uki.1_Missense_Mutation_p.P336S|TCF4_uc002lfx.2_Missense_Mutation_p.P336S|TCF4_uc010xdw.1_Missense_Mutation_p.P277S|TCF4_uc002lfy.2_Missense_Mutation_p.P365S|TCF4_uc010xdx.1_Missense_Mutation_p.P383S|TCF4_uc021ukj.1_Missense_Mutation_p.P347S|TCF4_uc021ukk.1_Missense_Mutation_p.P347S|TCF4_uc021ukl.1_Missense_Mutation_p.P404S|TCF4_uc002lfz.2_Missense_Mutation_p.P407S|TCF4_uc010dph.1_Missense_Mutation_p.P407S|TCF4_uc010dpi.3_Missense_Mutation_p.P413S|TCF4_uc010xdy.1_Missense_Mutation_p.P383S NM_001243226 NP_001230155 P15884 ITF2_HUMAN Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA. 407 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) GCTGTGGATGGGCCCACTGCA 0.478000 17 14 0 0 0.001855 0 0 SACM1L 22908 broad.mit.edu 37 3 45779074 45779074 + Splice_Site SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:45779074G>A uc003cos.2 + 15 1444 c.1240_splice c.e15-1 p.R414_splice SACM1L_uc011bag.1_Splice_Site_p.R311_splice|SACM1L_uc011bah.1_Splice_Site_p.R348_splice|SACM1L_uc003cot.2_Splice_Site_p.R57_splice NM_014016 NP_054735 Q9NTJ5 SAC1_HUMAN Homo sapiens SAC1 suppressor of actin mutations 1-like (yeast) (SACM1L), mRNA. 414 SAC. Golgi apparatus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) TTTTATTCCAGAGACTAGGAG 0.348000 106 40 0 0 0.003214 0 0 GOLIM4 27333 broad.mit.edu 37 3 167747058 167747058 + Missense_Mutation SNP T G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:167747058T>G uc011bpe.1 - 10 1810 c.1466A>C c.(1465-1467)gAt>gCt p.D489A GOLIM4_uc003ffe.2_Missense_Mutation_p.D489A|GOLIM4_uc011bpf.1_Missense_Mutation_p.D461A|GOLIM4_uc011bpg.1_Missense_Mutation_p.D461A NM_014498 NP_055313 O00461 GOLI4_HUMAN Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA. 489 Gln-rich.|Glu-rich. transport Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTGAACGATATCATTATCCAT 0.408000 49 17 0 0 0.004007 0 0 BC011998 0 broad.mit.edu 37 5 164028140 164028140 + RNA SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:164028140G>A uc003lzn.3 + 2 c.318G>A Homo sapiens, clone IMAGE:4479080, mRNA, partial cds. CCACCTGGTTGAAGGTCTTGC 0.592000 5 6 0 0 0.001168 0 0 NME8 51314 broad.mit.edu 37 7 37907318 37907318 + Missense_Mutation SNP G T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:37907318G>T uc003tfn.3 + 10 1008 c.636G>T c.(634-636)gaG>gaT p.E212D NM_016616 NP_057700 Q8N427 TXND3_HUMAN Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA. 212 NDK 1. CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ACTTCGAAGAGTTTGTCTCTT 0.383000 60 6 2.0095e-06 3.5038e-06 0.001984 1 0 EPC1 80314 broad.mit.edu 37 10 32560702 32560702 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:32560702T>C uc001iwg.1 - 13 2488 c.2218A>G c.(2218-2220)Act>Gct p.T740A EPC1_uc001iwi.3_Missense_Mutation_p.T667A|EPC1_uc001iwh.1_Missense_Mutation_p.T717A NM_025209 NP_079485 Q9H2F5 EPC1_HUMAN Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA. 740 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nuclear membrane breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) TTGGCAGCAGTTACTTGATGA 0.418000 126 19 0 0 0.002299 0 0 FAT1 2195 broad.mit.edu 37 4 187541983 187541984 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:187541983_187541984GG>AA uc003izf.3 - 9 5944_5945 c.5756_5757CC>TT c.(5755-5757)acc>aTT p.T1919I NM_005245 NP_005236 Q14517 FAT1_HUMAN Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA. 1919 Cadherin 17. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.T1919T(2)|p.T1922T(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGTTGCCTTCGGTGATGGAGTA 0.426000 HNSCC(5;0.00058) 42 25 0 0 0.004672 0 0 TPM4 7171 broad.mit.edu 37 19 16204522 16204522 + Missense_Mutation SNP G C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:16204522G>C uc002ndi.2 + 7 849 c.731G>C c.(730-732)aGa>aCa p.R244T TPM4_uc002ndj.2_Missense_Mutation_p.R208T|TPM4_uc002ndk.1_Missense_Mutation_p.R118T NM_001145160 NP_001138632 P67936 TPM4_HUMAN Homo sapiens tropomyosin 4 (TPM4), transcript variant 1, mRNA. 208 cellular component movement|muscle filament sliding|response to oxidative stress cytosol|muscle thin filament tropomyosin|stress fiber actin binding|calcium ion binding|structural constituent of muscle TPM4/ALK(12) breast(1)|large_intestine(3) 4 TTTGCAGAGAGAACGGTTGCA 0.493000 T ALK ALCL 39 7 0 0 0.003080 0 0 OR4K1 79544 broad.mit.edu 37 14 20404621 20404621 + Missense_Mutation SNP C T T rs147347995 TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:20404621C>T uc001vwj.2 + 0 855 c.796C>T c.(796-798)Cct>Tct p.P266S NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA. 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P266S(2) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TAGCAGACTTCCTGTGGACAA 0.413000 150 32 0 0 0.002096 0 0 SPRY3 10251 broad.mit.edu 37 X 155003646 155003647 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrX:155003646_155003647CC>TT uc022cio.1 + 0 113_114 c.113_114CC>TT c.(112-114)gcc>gTT p.A38V SPRY3_uc004fnq.1_Missense_Mutation_p.A38V NM_005840 NP_005831 O43610 SPY3_HUMAN Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA. 38 multicellular organismal development|regulation of signal transduction cytoplasm|membrane all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGTAAACAGGCCCTCTCCAGCC 0.525000 53 58 0 0 0.004672 0 0 CDKAL1 54901 broad.mit.edu 37 6 21000535 21000535 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:21000535A>G uc003ndd.2 + 10 1154 c.987A>G c.(985-987)gtA>gtG p.V329V CDKAL1_uc003nde.2_Silent_p.V259V|CDKAL1_uc021ymk.1_Silent_p.V329V NM_017774 NP_060244 Q5VV42 CDKAL_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA. 329 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) CCGACAGCGTACTCATGGAAA 0.388000 388 72 0 0 0.003610 0 0 DONSON 29980 broad.mit.edu 37 21 35276277 35276277 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr21:35276277A>G uc002ytl.3 - 5 581 c.490T>C c.(490-492)Ttc>Ctc p.F164L DONSON_uc002ysn.1_Intron NM_001697 NP_001688 Q9NYP3 DONS_HUMAN Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (ATP5O), nuclear gene encoding mitochondrial protein, mRNA. 0 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 TGACTTAGGAAGCTCTTGAGG 0.363000 64 5 0 0 0.004482 0 0 USP19 10869 broad.mit.edu 37 3 49152456 49152456 + Missense_Mutation SNP T G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:49152456T>G uc003cwd.2 - 12 2127 c.1808A>C c.(1807-1809)gAc>gCc p.D603A USP19_uc003cwa.3_Missense_Mutation_p.D411A|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.D706A|USP19_uc011bcg.2_Missense_Mutation_p.D694A|USP19_uc003cwc.2_Missense_Mutation_p.D361A|USP19_uc011bch.2_Missense_Mutation_p.D704A NM_006677 NP_006668 O94966 UBP19_HUMAN Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA. 603 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCGATTCAGGTCCTCGTGCAG 0.572000 28 15 0 0 0.003163 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47247031 47247031 + Silent SNP C A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:47247031C>A uc002ion.2 + 10 1701 c.1642C>A c.(1642-1644)Cgg>Agg p.R548R B4GALNT2_uc010wlt.1_Silent_p.R462R|B4GALNT2_uc010wlu.1_Silent_p.R488R NM_153446 NP_001152860 Q8NHY0 B4GN2_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA. 548 UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) CACCCTCACCCGGGTCCAGTT 0.522000 40 9 2.17888e-05 3.78234e-05 0.006214 1 0 WNT7A 7476 broad.mit.edu 37 3 13916496 13916496 + Nonsense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:13916496C>T uc003bye.1 - 1 551 c.246G>A c.(244-246)tgG>tgA p.W82* NM_004625 NP_004616 O00755 WNT7A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA. 82 Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity p.R81C(1)|p.R81S(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 CAGAGCAGTTCCAGCGGCCAT 0.602000 32 16 0 0 0.006122 0 0 B3GALNT1 8706 broad.mit.edu 37 3 160803777 160803777 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:160803777T>C uc003fdv.3 - 4 1185 c.766A>G c.(766-768)Atg>Gtg p.M256V B3GALNT1_uc003fdw.3_Missense_Mutation_p.M256V|B3GALNT1_uc003fdx.3_Missense_Mutation_p.M256V|B3GALNT1_uc003fdy.3_Missense_Mutation_p.M256V|B3GALNT1_uc003fdz.3_Missense_Mutation_p.M256V|B3GALNT1_uc003fea.3_Missense_Mutation_p.M256V|B3GALNT1_uc011bpa.2_Intron|B3GALNT1_uc021xgw.1_Missense_Mutation_p.M256V NM_033169 NP_149359 O75752 B3GL1_HUMAN Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA. 256 protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05) TGACCCATCATTTCATAGATC 0.383000 58 15 0 0 0.007413 0 0 LOC100132352 100132352 broad.mit.edu 37 9 68728848 68728848 + RNA SNP A C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:68728848A>C uc022bhu.1 + 2 c.633A>C LOC100132352_uc010mnp.2_Non-coding_Transcript Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA. aagaagaaaaagagcaaagat 0.279000 25 10 0 0 0.006214 0 0 PITPNA 5306 broad.mit.edu 37 17 1438752 1438752 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:1438752A>G uc021tng.1 - 7 773 c.517T>C c.(517-519)Ttg>Ctg p.L173L PITPNA_uc021tnf.1_Silent_p.L82L|PITPNA_uc010cjt.3_Silent_p.L57L NM_006224 NP_006215 Q00169 PIPNA_HUMAN Homo sapiens phosphatidylinositol transfer protein, alpha (PITPNA), mRNA. 173 axon guidance|lipid metabolic process|visual perception cytoplasm phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 UCEC - Uterine corpus endometrioid carcinoma (25;0.0845) TTGGGGCCCAAGGGTCCTCGG 0.567000 29 4 0 0 0.000602 0 0 TCF20 6942 broad.mit.edu 37 22 42609368 42609368 + Silent SNP A G G rs139885100 TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr22:42609368A>G uc003bcj.1 - 0 2078 c.1944T>C c.(1942-1944)agT>agC p.S648S TCF20_uc003bck.1_Silent_p.S648S NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA. 648 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GTGATGCATGACTGGTTTCCT 0.527000 54 15 0 0 0.002450 0 0 CLN3 1201 broad.mit.edu 37 16 28493470 28493470 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:28493470G>A uc002dpo.3 - 12 1335 c.1012C>T c.(1012-1014)Cgc>Tgc p.R338C NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Missense_Mutation_p.R260C|CLN3_uc002dpm.3_Missense_Mutation_p.R284C|CLN3_uc010vcu.2_Missense_Mutation_p.R238C|CLN3_uc010vcv.2_Missense_Mutation_p.R314C|CLN3_uc002dpp.3_Missense_Mutation_p.R338C|CLN3_uc021tfs.1_Missense_Mutation_p.R185C|CLN3_uc002dpt.1_Missense_Mutation_p.R238C|CLN3_uc002dpq.1_Missense_Mutation_p.R290C|CLN3_uc010bye.1_Missense_Mutation_p.R321C|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Missense_Mutation_p.R211C|CLN3_uc002dpu.1_Missense_Mutation_p.R236C|CLN3_uc002dpw.1_Missense_Mutation_p.R185C|CLN3_uc010vcw.1_3'UTR NM_000086 NP_001035897 Q13286 CLN3_HUMAN Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA. 338 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1) 15 CGACAGCAGCGGAGAGAAGAG 0.642000 15 8 0 0 0.003080 0 0 TM9SF4 9777 broad.mit.edu 37 20 30730789 30730789 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:30730789A>G uc002wxj.2 + 5 768 c.533A>G c.(532-534)tAc>tGc p.Y178C TM9SF4_uc010ztr.1_Missense_Mutation_p.Y104C|TM9SF4_uc010zts.1_Missense_Mutation_p.Y85C|TM9SF4_uc002wxk.2_Missense_Mutation_p.Y161C NM_014742 NP_055557 Q92544 TM9S4_HUMAN Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA. 178 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TTTCAGATCTACCTGCACAAC 0.517000 56 9 0 0 0.006214 0 0 PREX2 80243 broad.mit.edu 37 8 69033271 69033271 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc 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 44 48 0 0 0.003610 0 0 TESPA1 9840 broad.mit.edu 37 12 55356843 55356843 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:55356843C>T uc010spd.1 - 8 972 c.839G>A c.(838-840)aGa>aAa p.R280K TESPA1_uc001sgl.3_Missense_Mutation_p.R142K|TESPA1_uc001sgm.3_Missense_Mutation_p.R27K|TESPA1_uc010spb.1_Missense_Mutation_p.R27K|TESPA1_uc010spc.1_Missense_Mutation_p.R142K|TESPA1_uc001sgn.3_Missense_Mutation_p.R280K NM_001136030 NP_001092285 A2RU30 K0748_HUMAN Homo sapiens KIAA0748 (KIAA0748), mRNA. 280 AAGGCGGTCTCTGGGTGACTG 0.547000 27 13 0 0 0.001855 0 0 TET2 54790 broad.mit.edu 37 4 106156079 106156079 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:106156079C>T uc011cez.2 + 2 1448 c.1043C>T c.(1042-1044)tCa>tTa p.S348L TET2_uc003hxk.3_Missense_Mutation_p.S327L|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.S327L|TET2_uc010ilp.2_Missense_Mutation_p.S327L|TET2_uc021xql.1_Missense_Mutation_p.S327L NM_001127208 NP_001120680 Q6N021 TET2_HUMAN Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA. 327 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.S327fs*1(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) CAACAAAAATCAGTTTTTGAG 0.423000 """Mis N, F""" MDS 11 18 0 0 0.002299 0 0 DICER1 23405 broad.mit.edu 37 14 95583017 95583017 + Nonsense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:95583017G>A uc001ydw.2 - 10 1737 c.1525C>T c.(1525-1527)Cga>Tga p.R509* DICER1_uc021sbc.1_Nonsense_Mutation_p.R509*|DICER1_uc001ydv.2_Nonsense_Mutation_p.R499*|DICER1_uc001ydx.2_Nonsense_Mutation_p.R509* NM_030621 NP_803187 Q9UPY3 DICER_HUMAN Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA. 509 Helicase C-terminal.|Required for interaction with PRKRA and TARBP2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference RNA-induced silencing complex|cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TCATGTGCTCGAAATTTCCTA 0.333000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 231 109 0 0 0.003610 0 0 PNPLA7 375775 broad.mit.edu 37 9 140356702 140356702 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:140356702A>G uc010ncj.1 - 30 3911 c.3574T>C c.(3574-3576)Tac>Cac p.Y1192H PNPLA7_uc004cnd.1_Missense_Mutation_p.Y414H|PNPLA7_uc004cne.1_Missense_Mutation_p.Y433H|PNPLA7_uc011mfa.1_Missense_Mutation_p.Y575H|PNPLA7_uc004cnf.2_Missense_Mutation_p.Y1167H|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank NM_001098537 NP_001092007 Q6ZV29 PLPL7_HUMAN Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA. 1167 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) TACTCGCAGTAGTCACTGCTC 0.642000 45 13 0 0 0.002450 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192910 132192910 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:132192910G>A uc003vra.4 - 1 772 c.543C>T c.(541-543)gaC>gaT p.D181D PLXNA4_uc003vrc.2_Silent_p.D181D|PLXNA4_uc003vrb.3_Silent_p.D181D NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 181 Sema. integral to membrane|intracellular|plasma membrane p.D180H(1) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TGAACAGCTTGTCATCCAGGT 0.537000 168 20 0 0 0.003954 0 0 ESRRG 2104 broad.mit.edu 37 1 216850609 216850609 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:216850609C>T uc001hkw.2 - 1 454 c.281G>A c.(280-282)aGt>aAt p.S94N ESRRG_uc009xdp.1_Missense_Mutation_p.S71N|ESRRG_uc001hky.1_Missense_Mutation_p.S71N|ESRRG_uc001hkz.2_Missense_Mutation_p.S71N|ESRRG_uc010puc.2_Missense_Mutation_p.S71N|ESRRG_uc001hla.2_Missense_Mutation_p.S71N|ESRRG_uc001hlb.2_Missense_Mutation_p.S71N|ESRRG_uc010pud.2_Intron|ESRRG_uc021pja.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.S71N|ESRRG_uc001hld.1_Missense_Mutation_p.S71N|ESRRG_uc001hkx.2_Missense_Mutation_p.S99N|ESRRG_uc009xdo.2_Missense_Mutation_p.S71N|ESRRG_uc001hle.2_Missense_Mutation_p.S71N|ESRRG_uc021piz.1_Missense_Mutation_p.S71N NM_001438 NP_001230435 P62508 ERR3_HUMAN Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA. 94 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.G93C(1) endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) GACAGGCCCACTACCTCCCAG 0.522000 120 25 0 0 0.003954 0 0 FAM91A1 157769 broad.mit.edu 37 8 124797899 124797899 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:124797899T>C uc003yqv.3 + 10 941 c.880T>C c.(880-882)Ttt>Ctt p.F294L FAM91A1_uc011lik.1_Missense_Mutation_p.F294L|FAM91A1_uc011lil.2_Missense_Mutation_p.F52L NM_144963 NP_659400 Q658Y4 F91A1_HUMAN Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA. 294 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) CCGATTGGGCTTTGCCCATAA 0.303000 142 18 0 0 0.001882 0 0 TRRAP 8295 broad.mit.edu 37 7 98529167 98529167 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:98529167A>G uc003upp.3 + 25 3940 c.3731A>G c.(3730-3732)gAc>gGc p.D1244G TRRAP_uc011kis.2_Missense_Mutation_p.D1244G|TRRAP_uc003upr.3_Missense_Mutation_p.D936G NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 1244 histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GTGACACACGACTTGGTTCGA 0.562000 28 5 0 0 0.001984 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144852413 144852413 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:144852413A>G uc021ouh.1 - 43 7332 c.7030T>C c.(7030-7032)Tcc>Ccc p.S2344P NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_3'UTR|PDE4DIP_uc001elx.4_3'UTR|PDE4DIP_uc001elv.4_3'UTR NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 1955 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGTTTTAAGGACTTCTGGTGG 0.552000 T PDGFRB MPD 70 6 0 0 0.001984 0 0 CATSPERD 257062 broad.mit.edu 37 19 5772937 5772937 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:5772937G>A uc002mda.3 + 19 1963 c.1902G>A c.(1900-1902)atG>atA p.M634I NM_152784 NP_689997 Q86XM0 TM146_HUMAN Homo sapiens transmembrane protein 146 (TMEM146), mRNA. 634 integral to membrane p.M634I(1) GGACCACCATGATAAAGGAAT 0.557000 24 21 0 0 0.001882 0 0 COL4A3 1285 broad.mit.edu 37 2 228155481 228155481 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:228155481G>A uc002vom.2 + 36 3251 c.3089G>A c.(3088-3090)gGa>gAa p.G1030E BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA. 1030 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGAAAAAGGGGAACTTTGGGA 0.428000 42 15 0 0 0.006122 0 0 KRT4 3851 broad.mit.edu 37 12 53202189 53202189 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:53202189C>T uc001saz.3 - 5 1236 c.1236G>A c.(1234-1236)caG>caA p.Q412Q NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN Homo sapiens keratin 4 (KRT4), mRNA. 338 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 CAACCGAGATCTGGAGCTGCT 0.502000 46 27 0 0 0.001786 0 0 UBAP2 55833 broad.mit.edu 37 9 33971691 33971691 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:33971691C>T uc003ztq.1 - 7 750 c.637G>A c.(637-639)Gta>Ata p.V213I UBAP2_uc011loc.1_Intron|UBAP2_uc011lod.1_Intron|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Missense_Mutation_p.V138I|UBAP2_uc011log.1_Intron|UBAP2_uc003ztr.2_Intron NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA. 213 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) TCCCAAACTACTAGCTTTGTC 0.383000 204 27 0 0 0.002836 0 0 NUMB 8650 broad.mit.edu 37 14 73743497 73743497 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:73743497T>C uc001xny.1 - 12 2065 c.1745A>G c.(1744-1746)cAc>cGc p.H582R NUMB_uc010aro.1_Missense_Mutation_p.H387R|NUMB_uc010arp.1_Missense_Mutation_p.H376R|NUMB_uc010arq.1_Missense_Mutation_p.H436R|NUMB_uc010arr.1_Missense_Mutation_p.H425R|NUMB_uc001xoa.1_Missense_Mutation_p.H534R|NUMB_uc001xnz.1_Missense_Mutation_p.H571R|NUMB_uc001xob.1_Missense_Mutation_p.H523R|NUMB_uc001xod.1_Missense_Mutation_p.H534R|NUMB_uc001xoc.1_Missense_Mutation_p.H582R|NUMB_uc010ars.1_Missense_Mutation_p.H571R|NUMB_uc010ttz.1_Missense_Mutation_p.H280R|NUMB_uc001xoe.3_Non-coding_Transcript NM_001005743 NP_001005743 P49757 NUMB_HUMAN Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA. 582 axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) ACCGTTGAGGTGCTGAGCAGG 0.562000 43 4 0 0 0.000248 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751350 26751350 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:26751350C>T uc003cdp.3 + 1 776 c.187C>T c.(187-189)Cct>Tct p.P63S LRRC3B_uc003cdq.3_Missense_Mutation_p.P63S|LRRC3B_uc021wuj.1_Missense_Mutation_p.P63S NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA. 63 LRRNT. integral to membrane p.P63P(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 TAGAGATCTTCCTCCTGAAAC 0.428000 52 27 0 0 0.006320 0 0 APOB 338 broad.mit.edu 37 2 21232936 21232936 + Missense_Mutation SNP C G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:21232936C>G uc002red.3 - 25 6932 c.6804G>C c.(6802-6804)caG>caC p.Q2268H NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2268 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTCTCTTAAGCTGCTGCAGTT 0.358000 655 35 0 0 0.003271 0 0 KIAA1841 84542 broad.mit.edu 37 2 61319682 61319682 + Missense_Mutation SNP G T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:61319682G>T uc002saw.4 + 10 1475 c.1172G>T c.(1171-1173)tGg>tTg p.W391L KIAA1841_uc002sax.4_Missense_Mutation_p.W245L|KIAA1841_uc002say.3_Missense_Mutation_p.W391L NM_001129993 NP_001123465 Q6NSI8 K1841_HUMAN Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA. 391 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) TGGCGATTGTGGGGAACAATC 0.343000 93 17 2.35188e-11 4.12367e-11 0.006122 1 0 ATXN2L 11273 broad.mit.edu 37 16 28841310 28841310 + Missense_Mutation SNP C G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:28841310C>G uc002dqy.3 + 7 1132 c.965C>G c.(964-966)aCt>aGt p.T322S NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.T322S|ATXN2L_uc002dqz.3_Missense_Mutation_p.T322S|ATXN2L_uc002dra.3_Missense_Mutation_p.T322S|ATXN2L_uc002drb.3_Missense_Mutation_p.T322S|ATXN2L_uc002drc.3_Missense_Mutation_p.T322S|ATXN2L_uc010vdb.2_Missense_Mutation_p.T322S|ATXN2L_uc002dre.3_Missense_Mutation_p.T322S|ATXN2L_uc002drf.3_5'UTR NM_148414 NP_680780 Q8WWM7 ATX2L_HUMAN Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA. 322 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 GATGGGCGCACTGAAGAGGAG 0.612000 20 11 0 0 0.000978 0 0 PLEC 5339 broad.mit.edu 37 8 144991141 144991141 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:144991141A>G uc003zaf.1 - 31 13429 c.13259T>C c.(13258-13260)aTc>aCc p.I4420T PLEC_uc003zab.1_Missense_Mutation_p.I4283T|PLEC_uc003zac.1_Missense_Mutation_p.I4287T|PLEC_uc003zad.2_Missense_Mutation_p.I4283T|PLEC_uc003zae.1_Missense_Mutation_p.I4251T|PLEC_uc003zag.1_Missense_Mutation_p.I4261T|PLEC_uc003zah.2_Missense_Mutation_p.I4269T|PLEC_uc003zaj.2_Missense_Mutation_p.I4310T NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 4420 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGTGTCCAGGATGCCAGCCAC 0.677000 86 12 0 0 0.000978 0 0 BACE1 23621 broad.mit.edu 37 11 117163893 117163893 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:117163893A>G uc001pqz.3 - 4 1178 c.717T>C c.(715-717)ggT>ggC p.G239G BACE1_uc001pqw.3_Silent_p.G214G|BACE1_uc001pqx.3_Silent_p.G170G|BACE1_uc001pqy.3_Silent_p.G195G|BACE1_uc010rxg.2_Silent_p.G114G|BACE1_uc010rxh.2_Silent_p.G139G|BACE1_uc009yzo.1_5'Flank|AB488780_uc021qqx.1_Non-coding_Transcript NM_012104 NP_036236 P56817 BACE1_HUMAN Homo sapiens beta-site APP-cleaving enzyme 1 (BACE1), transcript variant a, mRNA. 239 beta-amyloid metabolic process|membrane protein ectodomain proteolysis cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) AGTGGTCGATACCTCCAATGA 0.512000 29 21 0 0 0.003954 0 0 TLR9 54106 broad.mit.edu 37 3 52258079 52258079 + Missense_Mutation SNP G T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:52258079G>T uc003ddb.3 - 4 754 c.544C>A c.(544-546)Cac>Aac p.H182N TLR9_uc003dda.2_Missense_Mutation_p.H85N|TLR9_uc003ddc.1_Missense_Mutation_p.H70N NM_017442 NP_059138 Q9NR96 TLR9_HUMAN Homo sapiens toll-like receptor 9 (TLR9), mRNA. 85 I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) CTGGGCAGGTGGGCAAAGTCA 0.617000 69 10 3.07112e-06 5.34892e-06 0.000978 1 0 UNKL 64718 broad.mit.edu 37 16 1416299 1416300 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:1416299_1416300GG>AA uc010brn.2 - 14 1997_1998 c.1984_1985CC>TT c.(1984-1986)ccg>TTg p.P662L UNKL_uc002cln.3_Missense_Mutation_p.P214L|UNKL_uc002clp.3_Missense_Mutation_p.P164L|UNKL_uc002clo.3_Missense_Mutation_p.P211L NM_001193388 NP_001180317 Q9H9P5 UNKL_HUMAN Homo sapiens unkempt homolog (Drosophila)-like (UNKL), transcript variant 1, mRNA. 662 cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Hepatocellular(780;0.0893) GGCCGCACACGGCTCACAGAGG 0.698000 8 7 0 0 0.004672 0 0 CDK20 23552 broad.mit.edu 37 9 90584717 90584717 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:90584717G>A uc004apr.3 - 5 1015 c.681C>T c.(679-681)gtC>gtT p.V227V CDK20_uc004aps.3_Silent_p.V206V|CDK20_uc022bjj.1_Silent_p.V206V|CDK20_uc004apt.3_Silent_p.V219V|CDK20_uc004apu.3_Intron NM_001039803 NP_001034892 Q8IZL9 CDK20_HUMAN Homo sapiens cyclin-dependent kinase 20 (CDK20), transcript variant 3, mRNA. 227 Protein kinase. cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity skin(1) 1 AAACCGGCCAGACTTGAGGGT 0.567000 48 14 0 0 0.003163 0 0 DENND2C 163259 broad.mit.edu 37 1 115137163 115137163 + Nonsense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:115137163G>A uc001efd.1 - 17 3064 c.2362C>T c.(2362-2364)Caa>Taa p.Q788* DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Nonsense_Mutation_p.Q731* NM_198459 NP_940861 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. 788 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-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) AGGGCAGCTTGAAGTTTTGGT 0.363000 73 41 0 0 0.008740 0 0 OSBPL1A 114876 broad.mit.edu 37 18 21819272 21819272 + Silent SNP A C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr18:21819272A>C uc002kve.3 - 15 1573 c.1356T>G c.(1354-1356)acT>acG p.T452T OSBPL1A_uc002kvd.3_5'UTR|OSBPL1A_uc010xbc.2_Silent_p.T70T|OSBPL1A_uc002kvf.3_Silent_p.T232T NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA. 452 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) CATGATGTTCAGTGGCCAGCG 0.443000 55 12 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179598380 179598380 + Missense_Mutation SNP C G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:179598380C>G uc021vsy.1 - 49 12229 c.12004G>C c.(12004-12006)Gct>Cct p.A4002P TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A663P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4929 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGCTTCCAGCTTCATTTTCA 0.358000 97 20 0 0 0.007413 0 0 PCDH15 65217 broad.mit.edu 37 10 55582479 55582479 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:55582479G>A uc010qhy.1 - 34 5423 c.5028C>T c.(5026-5028)ttC>ttT p.F1676F PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.F1671F|PCDH15_uc021pqz.1_Silent_p.F1646F|PCDH15_uc010qhv.1_Silent_p.F1666F|PCDH15_uc010qhw.1_Silent_p.F1629F|PCDH15_uc010qhx.1_Silent_p.F1600F|PCDH15_uc010qhz.1_Silent_p.F1671F|PCDH15_uc010qia.1_Silent_p.F1649F|PCDH15_uc001jju.1_Silent_p.F1669F|PCDH15_uc010qib.1_Silent_p.F1646F NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1669 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGGAGAATGAGAAGTGAGGCC 0.418000 HNSCC(58;0.16) 18 32 0 0 0.002445 0 0 SMC4 10051 broad.mit.edu 37 3 160141612 160141612 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:160141612A>G uc003fdh.3 + 14 2422 c.2309A>G c.(2308-2310)gAa>gGa p.E770G IFT80_uc003fda.3_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.E534G|SMC4_uc003fdi.3_Missense_Mutation_p.E745G|SMC4_uc003fdj.3_Missense_Mutation_p.E770G|SMC4_uc010hwd.3_Missense_Mutation_p.E770G|SMC4_uc003fdl.3_Missense_Mutation_p.E473G NM_001002800 NP_005487 Q9NTJ3 SMC4_HUMAN Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA. 770 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CTTGTTATTGAAATCTCTGAA 0.368000 53 8 0 0 0.004482 0 0 ZNF440 126070 broad.mit.edu 37 19 11942549 11942549 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:11942549T>C uc002msp.1 + 3 714 c.558T>C c.(556-558)agT>agC p.S186S ZNF440_uc021upk.1_5'Flank NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN Homo sapiens zinc finger protein 440 (ZNF440), mRNA. 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CCCATTCAAGTGTTCGAAGAC 0.398000 86 14 0 0 0.006122 0 0 IDH3G 3421 broad.mit.edu 37 X 153055231 153055231 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrX:153055231A>G uc004fip.3 - 4 468 c.282T>C c.(280-282)aaT>aaC p.N94N IDH3G_uc004fiq.3_Silent_p.N94N|IDH3G_uc004fit.1_Silent_p.N94N|IDH3G_uc004fiu.3_5'Flank NM_004135 NP_004126 P51553 IDH3G_HUMAN Homo sapiens isocitrate dehydrogenase 3 (NAD+) gamma (IDH3G), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 94 carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleolus ATP binding|NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1) 17 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) CTTCATCAGCATTGGAACTCA 0.642000 14 5 0 0 0.001168 0 0 ABCF2 10061 broad.mit.edu 37 7 150921023 150921023 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:150921023T>C uc003wjo.1 - 3 656 c.545A>G c.(544-546)gAg>gGg p.E182G ABCF2_uc003wjp.3_Missense_Mutation_p.E182G NM_005692 NP_005683 Q9UG63 ABCF2_HUMAN Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 182 ABC transporter 1. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTACCATCCTCATGAGCCAG 0.602000 95 11 0 0 0.008291 0 0 SLC29A3 55315 broad.mit.edu 37 10 73121791 73121791 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:73121791C>T uc001jrr.4 + 5 911 c.854C>T c.(853-855)tCg>tTg p.S285L SLC29A3_uc001jrs.4_3'UTR|SLC29A3_uc010qjq.2_Missense_Mutation_p.S139L|SLC29A3_uc001jrt.4_Missense_Mutation_p.S79L NM_018344 NP_060814 Q9BZD2 S29A3_HUMAN Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA. 285 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 AGTGCCCCTTCGGTGGCCTCC 0.587000 17 27 0 0 0.005443 0 0 GLRA2 2742 broad.mit.edu 37 X 14748379 14748379 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrX:14748379G>A uc010neq.3 + 8 1891 c.1131G>A c.(1129-1131)atG>atA p.M377I GLRA2_uc004cwe.4_Missense_Mutation_p.M377I|GLRA2_uc011mio.2_Missense_Mutation_p.M288I|GLRA2_uc010nep.3_Missense_Mutation_p.M377I|GLRA2_uc011mip.2_Missense_Mutation_p.M355I NM_002063 NP_002054 P23416 GLRA2_HUMAN Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA. 377 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) GTTATGGGATGGGTCACTGCC 0.468000 66 126 0 0 0.003610 0 0 RP1 6101 broad.mit.edu 37 8 55534779 55534779 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:55534779C>T uc003xsd.1 + 2 866 c.718C>T c.(718-720)Cct>Tct p.P240S RP1_uc011ldy.1_Missense_Mutation_p.P240S NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 240 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ATACTTGCTTCCTGCTAGATT 0.463000 43 41 0 0 0.006230 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576476 158576476 + Missense_Mutation SNP C T T rs144307016 TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:158576476C>T uc010pio.2 + 0 248 c.248C>T c.(247-249)tCt>tTt p.S83F NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA. 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L82L(1) endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) AGAATGCTCTCTGGCCTGGCT 0.547000 59 211 0 0 0.003610 0 0 COL4A1 1282 broad.mit.edu 37 13 110823073 110823073 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr13:110823073T>C uc001vqw.4 - 41 3685 c.3563A>G c.(3562-3564)aAg>aGg p.K1188R NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 1188 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CACCTCACCCTTTGAACCTGA 0.567000 44 13 0 0 0.003163 0 0 ESPNL 339768 broad.mit.edu 37 2 239039169 239039169 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:239039169T>C uc002vxq.4 + 8 1924 c.1814T>C c.(1813-1815)cTg>cCg p.L605P ESPNL_uc010fyw.3_Missense_Mutation_p.L301P NM_194312 NP_919288 Q6ZVH7 ESPNL_HUMAN Homo sapiens espin-like (ESPNL), mRNA. 605 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) AGCCTGTCCCTGCTGCTGAAG 0.711000 9 3 0 0 0.000248 0 0 SETX 23064 broad.mit.edu 37 9 135158730 135158730 + Missense_Mutation SNP C G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:135158730C>G uc004cbk.3 - 18 6650 c.6467G>C c.(6466-6468)aGc>aCc p.S2156T SETX_uc004cbj.3_Missense_Mutation_p.S1775T|SETX_uc010mzt.3_Missense_Mutation_p.S1775T NM_015046 NP_055861 Q7Z333 SETX_HUMAN Homo sapiens senataxin (SETX), mRNA. 2156 RNA processing|cell death|double-strand break repair cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) ACCACTTGTGCTCAACGTGCA 0.463000 66 22 0 0 0.002299 0 0 RHO 6010 broad.mit.edu 37 3 129247597 129247597 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:129247597T>C uc003emt.3 + 0 116 c.21T>C c.(19-21)ccT>ccC p.P7P NM_000539 NP_000530 P08100 OPSD_HUMAN Homo sapiens rhodopsin (RHO), mRNA. 7 protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 22 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) CAGAAGGCCCTAACTTCTACG 0.607000 34 10 0 0 0.008291 0 0 GPR84 53831 broad.mit.edu 37 12 54756680 54756680 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:54756680C>T uc021qyp.1 - 0 956 c.956G>A c.(955-957)cGa>cAa p.R319Q GPR84_uc001sfu.3_Missense_Mutation_p.R319Q NM_020370 NP_065103 Q9NQS5 GPR84_HUMAN Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA. 319 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 AAAACACATTCGAGTCACCTT 0.532000 71 42 0 0 0.006230 0 0 SEC24C 9632 broad.mit.edu 37 10 75520474 75520474 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:75520474C>T uc001juw.3 + 6 1034 c.854C>T c.(853-855)tCc>tTc p.S285F SEC24C_uc010qkn.2_Non-coding_Transcript|SEC24C_uc009xrj.2_Missense_Mutation_p.S143F|SEC24C_uc001jux.3_Missense_Mutation_p.S285F|SEC24C_uc010qko.2_Missense_Mutation_p.S143F|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. 285 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) GTCTCAGGTTCCTTCGGACCA 0.522000 36 65 0 0 0.003610 0 0 LRP6 4040 broad.mit.edu 37 12 12332832 12332832 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:12332832T>C uc001rah.4 - 6 1599 c.1457A>G c.(1456-1458)aAc>aGc p.N486S BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.N486S NM_002336 NP_002327 O75581 LRP6_HUMAN Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA. 486 Beta-propeller 2. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) AAGAGAAGTGTTAACCAATAC 0.413000 396 100 0 0 0.003610 0 0 PGM3 5238 broad.mit.edu 37 6 83885738 83885738 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:83885738G>A uc011dyz.2 - 9 1324 c.1155C>T c.(1153-1155)caC>caT p.H385H PGM3_uc003pju.2_Silent_p.H357H|PGM3_uc003pjw.3_Silent_p.H276H|PGM3_uc021zcd.1_Silent_p.H357H NM_001199917 NP_001186846 O95394 AGM1_HUMAN Homo sapiens phosphoglucomutase 3 (PGM3), transcript variant 1, mRNA. 357 UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 18 all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068) BRCA - Breast invasive adenocarcinoma(397;0.0478) GAGCCTTGTGGTGCAAATGTT 0.373000 34 16 0 0 0.007413 0 0 MIR320B1 100302117 broad.mit.edu 37 1 117214427 117214427 + RNA SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:117214427G>A uc021osk.1 + 0 c.57G>A Homo sapiens microRNA 320b-1 (MIR320B1), microRNA. GGTTGAGAGGGCAAACAaatt 0.333000 9 5 0 0 0.000602 0 0 RPTN 126638 broad.mit.edu 37 1 152130303 152130303 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:152130303C>T uc001ezs.1 - 1 128 c.63G>A c.(61-63)ggG>ggA p.G21G NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN Homo sapiens repetin (RPTN), mRNA. 21 EF-hand 1.|S-100-like (By similarity). proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 AGTCCCCATTCCCTTTGGCAT 0.448000 23 51 0 0 0.003610 0 0 SLC4A7 9497 broad.mit.edu 37 3 27490215 27490215 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:27490215T>C uc011aww.2 - 2 437 c.216A>G c.(214-216)ggA>ggG p.G72G SLC4A7_uc011awx.2_Silent_p.G72G|SLC4A7_uc021wun.1_Silent_p.G72G|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Silent_p.G68G|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Silent_p.G68G|SLC4A7_uc011axb.2_Silent_p.G72G|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Silent_p.G68G|SLC4A7_uc010hfm.2_Silent_p.G68G|SLC4A7_uc003cdv.3_Silent_p.G63G|SLC4A7_uc003cdw.3_Silent_p.G63G NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA. 63 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 GATGTTTGTGTCCGCGATGCC 0.403000 64 14 0 0 0.001855 0 0 CADPS 8618 broad.mit.edu 37 3 62522183 62522183 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:62522183G>A uc003dll.2 - 11 2400 c.2040C>T c.(2038-2040)tcC>tcT p.S680S CADPS_uc003dlk.1_Silent_p.S184S|CADPS_uc003dlm.2_Silent_p.S680S|CADPS_uc003dln.2_Silent_p.S680S|CADPS_uc021wzv.1_Silent_p.S680S NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA. 680 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) TCTCAAAGAGGGAAGCGTGGT 0.393000 53 34 0 0 0.002836 0 0 TLE1 7088 broad.mit.edu 37 9 84268944 84268944 + Missense_Mutation SNP A T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:84268944A>T uc004alz.3 - 4 683 c.242T>A c.(241-243)aTc>aAc p.I81N TLE1_uc004aly.3_Missense_Mutation_p.I81N|TLE1_uc011lsr.2_Missense_Mutation_p.I81N|TLE1_uc004ama.1_Missense_Mutation_p.I81N|TLE1_uc011lss.1_Missense_Mutation_p.I81N NM_005077 NP_005068 Q04724 TLE1_HUMAN Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA. 81 Gln-rich. Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 TCTCTTGGCGATTTCAGTCTA 0.373000 50 10 0 0 0.000978 0 0 RP11-165H20.1 149620 broad.mit.edu 37 1 111825929 111825929 + RNA SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:111825929C>T uc009wgb.3 + 4 c.1268C>T Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA. ACATCCATGTCATGACCTATG 0.532000 20 19 0 0 0.001523 0 0 IL18RAP 8807 broad.mit.edu 37 2 103040583 103040583 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:103040583C>T uc002tbx.3 + 3 867 c.383C>T c.(382-384)cCc>cTc p.P128L IL18RAP_uc010fiz.3_Intron NM_003853 NP_003844 O95256 I18RA_HUMAN Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA. 128 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 ATTTGTAGACCCAAGATGATT 0.348000 45 30 0 0 0.008361 0 0 MAPT 4137 broad.mit.edu 37 17 44096042 44096042 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:44096042G>A uc002ijr.4 + 12 2329 c.2007G>A c.(2005-2007)tcG>tcA p.S669S MAPT_uc010dau.3_Silent_p.S687S|MAPT_uc002ijs.4_Silent_p.S352S|MAPT_uc002ijx.4_Silent_p.S323S|MAPT_uc021tyv.1_Silent_p.S321S|MAPT_uc002ijt.4_Silent_p.S294S|MAPT_uc021tyw.1_Silent_p.S292S|MAPT_uc002iju.4_Silent_p.S263S NM_016835 NP_058519 P10636 TAU_HUMAN Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA. 669 S -> L (in fatal respiratory hypoventilation; unusual apparent autosomal recessive inheritance; reduced binding to microtubules as well as increased fibrillization and aggregation). cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) GAGTCCAGTCGAAGATTGGGT 0.507000 105 54 0 0 0.003610 0 0 NID2 22795 broad.mit.edu 37 14 52481829 52481829 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:52481829C>T uc001wzo.3 - 14 3427 c.3193G>A c.(3193-3195)Gac>Aac p.D1065N NID2_uc010tqs.2_Missense_Mutation_p.D1017N|NID2_uc010tqt.1_Missense_Mutation_p.D1065N|NID2_uc001wzp.3_Missense_Mutation_p.D1065N NM_007361 NP_031387 Q14112 NID2_HUMAN Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA. 1065 Thyroglobulin type-1 2. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CCATCTTTGTCCACACACCAG 0.652000 19 9 0 0 0.006214 0 0 JMJD1C 221037 broad.mit.edu 37 10 64954067 64954067 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:64954067T>C uc001jmn.3 - 13 6013 c.5713A>G c.(5713-5715)Acc>Gcc p.T1905A JMJD1C_uc001jml.3_Missense_Mutation_p.T1686A|JMJD1C_uc001jmm.3_Missense_Mutation_p.T1617A|JMJD1C_uc010qiq.2_Missense_Mutation_p.T1723A|JMJD1C_uc009xpi.3_Missense_Mutation_p.T1723A|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Missense_Mutation_p.T803A NM_032776 NP_116165 Q15652 JHD2C_HUMAN Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA. 1905 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) ATAATTTGGGTTGGCATTAAA 0.348000 67 11 0 0 0.008291 0 0 NAV1 89796 broad.mit.edu 37 1 201750364 201750364 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:201750364G>A uc021phi.1 + 4 1937 c.1590G>A c.(1588-1590)aaG>aaA p.K530K NAV1_uc001gwu.3_Silent_p.K530K|NAV1_uc001gwv.1_Silent_p.K38K|NAV1_uc001gww.2_Silent_p.K139K|NAV1_uc001gwx.3_Silent_p.K139K|NAV1_uc001gwy.1_5'Flank NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA. 530 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 GTTCCCTGAAGAAGGGCAAGA 0.562000 37 31 0 0 0.008361 0 0 PAK2 5062 broad.mit.edu 37 3 196533549 196533549 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:196533549A>G uc003fwy.4 + 5 890 c.568A>G c.(568-570)Acg>Gcg p.T190A NM_002577 NP_002568 Q13177 PAK2_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 (PAK2), mRNA. 190 T cell costimulation|T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) ACCGGATCATACGAAATCAGT 0.473000 25 5 0 0 0.000602 0 0 ABCG1 9619 broad.mit.edu 37 21 43710232 43710232 + Missense_Mutation SNP G C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr21:43710232G>C uc011aev.2 + 10 1440 c.1366G>C c.(1366-1368)Ggg>Cgg p.G456R ABCG1_uc002zam.3_Missense_Mutation_p.G411R|ABCG1_uc002zan.3_Missense_Mutation_p.G435R|ABCG1_uc002zao.3_Missense_Mutation_p.G430R|ABCG1_uc002zap.3_Missense_Mutation_p.G433R|ABCG1_uc002zaq.3_Missense_Mutation_p.G445R|ABCG1_uc002zar.3_Missense_Mutation_p.G444R|ABCG1_uc010gpb.2_Missense_Mutation_p.R85P NM_004915 NP_004906 P45844 ABCG1_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA. 445 ABC transmembrane type-2. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity p.G445R(1)|p.G435R(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) CTTGGGGATCGGGAACGAAGC 0.567000 74 15 0 0 0.004007 0 0 GFPT1 2673 broad.mit.edu 37 2 69565127 69565127 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:69565127A>G uc002sfi.2 - 14 1568 c.1385T>C c.(1384-1386)gTg>gCg p.V462A GFPT1_uc002sfh.3_Missense_Mutation_p.V444A NM_001244710 NP_001231639 Q06210 GFPT1_HUMAN Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA. 462 SIS 1. UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 TGTGATCCCCACAGTTAAAGC 0.448000 129 16 0 0 0.004007 0 0 PRKDC 5591 broad.mit.edu 37 8 48802901 48802901 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:48802901A>G uc003xqi.3 - 32 4042 c.3985T>C c.(3985-3987)Tac>Cac p.Y1329H PRKDC_uc003xqj.3_Missense_Mutation_p.Y1329H NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 1330 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CTGTAGTTGTACCTTTCTCCC 0.488000 Non-homologous end-joining 32 5 0 0 0.001168 0 0 CLCN2 1181 broad.mit.edu 37 3 184076014 184076015 + Missense_Mutation DNP GT AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:184076014_184076015GT>AA uc003foi.3 - 3 560_561 c.436_437AC>TT c.(436-438)act>TTt p.T146F CLCN2_uc003foh.3_5'Flank|CLCN2_uc010hya.2_Missense_Mutation_p.T146F|CLCN2_uc011brl.2_Missense_Mutation_p.T146F|CLCN2_uc011brm.2_Missense_Mutation_p.T102F|CLCN2_uc011brn.1_Missense_Mutation_p.T146F NM_004366 NP_004357 P51788 CLCN2_HUMAN Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA. 146 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) GGCTGAGAAAGTGATGAGGACA 0.589000 74 31 0 0 0.004672 0 0 KLHL3 26249 broad.mit.edu 37 5 136969750 136969750 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:136969750T>C uc010jek.3 - 11 1870 c.1426A>G c.(1426-1428)Atg>Gtg p.M476V KLHL3_uc011cyc.2_Missense_Mutation_p.M211V|KLHL3_uc003lbr.4_Missense_Mutation_p.M394V|KLHL3_uc011cyd.2_Intron|KLHL3_uc010jel.1_Missense_Mutation_p.M211V NM_017415 NP_059111 Q9UH77 KLHL3_HUMAN Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA. 476 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) CGGGTGCTCATGTCCGCCACG 0.517000 80 29 0 0 0.006320 0 0 PDE6D 5147 broad.mit.edu 37 2 232645820 232645820 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:232645820G>A uc002vse.1 - 0 155 c.5C>T c.(4-6)tCa>tTa p.S2L COPS7B_uc010fxy.1_5'Flank|PDE6D_uc010fxx.1_Non-coding_Transcript NM_002601 NP_002592 O43924 PDE6D_HUMAN Homo sapiens phosphodiesterase 6D, cGMP-specific, rod, delta (PDE6D), mRNA. 2 regulation of GTP catabolic process|response to stimulus|visual perception 3',5'-cyclic-nucleotide phosphodiesterase activity|GTPase inhibitor activity|protein binding endometrium(1)|large_intestine(1)|lung(2)|skin(1) 5 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142) Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154) GTCCTTGGCTGACATGATGCG 0.711000 24 6 0 0 0.001984 0 0 ANO7 50636 broad.mit.edu 37 2 242135225 242135225 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:242135225G>A uc002wax.2 + 3 539 c.436G>A c.(436-438)Gat>Aat p.D146N ANO7_uc002waw.3_Missense_Mutation_p.D145N NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA. 146 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 GACTTTTCTGGATAATCTTCG 0.607000 41 21 0 0 0.002780 0 0 BC073927 0 broad.mit.edu 37 11 71513917 71513918 + RNA DNP CA TG TG TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:71513917_71513918CA>TG uc001oqx.1 - 2 c.682_683TG>CA Homo sapiens cDNA clone IMAGE:5297769. TTGAAGTTCACAGCACACGCAG 0.574000 19 4 0 0 0.004672 0 0 OAS3 4940 broad.mit.edu 37 12 113405854 113405855 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:113405854_113405855GG>AA uc001tug.3 + 13 3066_3067 c.2979_2980GG>AA c.(2977-2982)gagggc>gaAAgc p.G994S NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA. 994 OAS domain 3. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|RNA binding|nucleotidyltransferase activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 ACATGGCTGAGGGCTTCCGCAC 0.599000 48 17 0 0 0.004672 0 0 C10orf2 56652 broad.mit.edu 37 10 102748512 102748512 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:102748512T>C uc001ksf.2 + 0 1220 c.545T>C c.(544-546)cTt>cCt p.L182P MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Missense_Mutation_p.L182P|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript NM_021830 NP_068602 Q96RR1 PEO1_HUMAN Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA. 182 cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) ATGTTTGGCCTTACCAAGGTT 0.557000 66 37 0 0 0.004289 0 0 DSC2 1824 broad.mit.edu 37 18 28654804 28654804 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr18:28654804G>A uc002kwl.4 - 11 2187 c.1733C>T c.(1732-1734)cCt>cTt p.P578L DSC2_uc002kwk.4_Missense_Mutation_p.P578L NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 578 Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TGTCTTTTTAGGTATGAATGG 0.423000 19 6 0 0 0.001168 0 0 SLC5A12 159963 broad.mit.edu 37 11 26702710 26702710 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:26702710G>A uc001mra.2 - 11 1680 c.1367C>T c.(1366-1368)gCc>gTc p.A456V SLC5A12_uc001mrb.2_Non-coding_Transcript NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA. 456 sodium ion transport apical plasma membrane|integral to membrane symporter activity p.G455G(1)|p.A456A(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 GTAAATGAAGGCCCCAATGGC 0.468000 7 10 0 0 0.000978 0 0 GRIA1 2890 broad.mit.edu 37 5 153026508 153026508 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:153026508G>A uc011dcy.2 + 2 298 c.271G>A c.(271-273)Gga>Aga p.G91R GRIA1_uc003lva.4_Missense_Mutation_p.G81R|GRIA1_uc003luy.4_Missense_Mutation_p.G81R|GRIA1_uc003luz.4_5'UTR|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Missense_Mutation_p.G12R|GRIA1_uc011dcz.2_Missense_Mutation_p.G91R|GRIA1_uc010jia.1_Missense_Mutation_p.G61R NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 81 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GTTCTCCAAAGGAGTCTATGC 0.453000 40 29 0 0 0.001786 0 0 DDX17 10521 broad.mit.edu 37 22 38882385 38882385 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr22:38882385T>C uc003avy.4 - 12 1854 c.1751A>G c.(1750-1752)gAt>gGt p.D584G DDX17_uc003avw.4_Missense_Mutation_p.D36G|DDX17_uc003avx.4_Missense_Mutation_p.D582G NM_001098504 NP_001091974 Q92841 DDX17_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA. 503 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity p.D582V(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) GTCACACTCATCCTGATACAT 0.468000 37 7 0 0 0.004482 0 0 SRPR 6734 broad.mit.edu 37 11 126136093 126136093 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:126136093A>G uc001qdh.3 - 6 1099 c.921T>C c.(919-921)tcT>tcC p.S307S SRPR_uc010sbm.2_Silent_p.S279S|FOXRED1_uc001qdi.3_5'Flank|FOXRED1_uc010sbn.2_5'Flank|FOXRED1_uc010sbq.2_5'Flank|FOXRED1_uc010sbo.2_5'Flank|FOXRED1_uc010sbp.2_5'Flank|FOXRED1_uc010sbr.2_5'Flank NM_003139 NP_003130 P08240 SRPR_HUMAN Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA. 307 NS -> TL (in Ref. 1; CAA29608). SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) TAGGTTTGGTAGAGTTTTGAG 0.502000 94 23 0 0 0.008361 0 0 SUV420H1 51111 broad.mit.edu 37 11 67925262 67925262 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:67925262G>A uc001onm.1 - 10 2807 c.2551C>T c.(2551-2553)Cct>Tct p.P851S SUV420H1_uc009yse.1_Missense_Mutation_p.P437S|SUV420H1_uc001onn.1_Missense_Mutation_p.P679S|SUV420H1_uc009ysf.2_Missense_Mutation_p.P611S NM_017635 NP_060105 Q4FZB7 SV421_HUMAN Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA. 851 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding p.P851S(2) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 GGAGGAAGAGGAATAAAATCG 0.393000 32 22 0 0 0.001882 0 0 MLXIP 22877 broad.mit.edu 37 12 122625529 122625529 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:122625529A>G uc001ubq.3 + 15 2645 c.2537A>G c.(2536-2538)gAg>gGg p.E846G MLXIP_uc001ubt.3_Missense_Mutation_p.E453G NM_014938 NP_055753 Q9HAP2 MLXIP_HUMAN Homo sapiens MLX interacting protein (MLXIP), mRNA. 846 Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) CCGCTGTTTGAGTCGTTCAAG 0.612000 77 9 0 0 0.006214 0 0 NR2F1 7025 broad.mit.edu 37 5 92929368 92929368 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:92929368C>T uc003kkj.3 + 2 2779 c.1092C>T c.(1090-1092)ccC>ccT p.P364P NR2F1_uc021ybj.1_Silent_p.P313P|NR2F1_uc021ybk.1_Silent_p.P339P NM_005654 NP_005645 P10589 COT1_HUMAN Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA. 364 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) CCAACCAGCCCAGCCGTTTTG 0.622000 24 24 0 0 0.002299 0 0 USP6NL 9712 broad.mit.edu 37 10 11504960 11504960 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:11504960G>A uc001iks.1 - 13 2061 c.2018C>T c.(2017-2019)cCa>cTa p.P673L USP6NL_uc001ikt.3_Missense_Mutation_p.P656L NM_001080491 NP_001073960 Q92738 US6NL_HUMAN Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA. 656 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 GCTAAACTGTGGAGAAGCAAA 0.552000 17 9 0 0 0.006214 0 0 GPS2 2874 broad.mit.edu 37 17 7228139 7228139 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:7228139T>C uc002gga.1 - 8 1799 c.1792A>G c.(1792-1794)Acc>Gcc p.T598A GPS2_uc002ggb.1_Missense_Mutation_p.T598A|GPS2_uc002ggc.1_Intron NM_032442 NP_115818 Q13227 GPS2_HUMAN Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA. 0 JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) TTGGTCATGGTGGAGGGCAAC 0.577000 OREG0024134 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 32 0 0 0.003271 0 0 UBR2 23304 broad.mit.edu 37 6 42573596 42573596 + Splice_Site SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:42573596A>G uc011dur.2 + 6 1099 c.801_splice c.e6+1 p.D267_splice UBR2_uc003osf.3_Splice_Site_p.D267_splice NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA. 267 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GTAGATCGAGATGTAAGTAAT 0.303000 49 4 0 0 0.000602 0 0 EPHB6 2051 broad.mit.edu 37 7 142562173 142562173 + Silent SNP C G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:142562173C>G uc011kst.2 + 6 1402 c.615C>G c.(613-615)acC>acG p.T205T EPHB6_uc011ksu.2_Silent_p.T205T|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_Intron|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank NM_004445 NP_004436 O15197 EPHB6_HUMAN Homo sapiens EPH receptor B6 (EPHB6), mRNA. 205 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GGCCTCTCACCCAACGCGGCT 0.662000 433 40 0 0 0.006230 0 0 FRY 10129 broad.mit.edu 37 13 32745227 32745227 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr13:32745227T>C uc001utx.3 + 17 2467 c.1971T>C c.(1969-1971)gaT>gaC p.D657D FRY_uc010tdw.2_Non-coding_Transcript NM_023037 NP_075463 Q5TBA9 FRY_HUMAN Homo sapiens furry homolog (Drosophila) (FRY), mRNA. 657 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ACTTCTCAGATTGGAGGGAAG 0.413000 62 44 0 0 0.003610 0 0 ARCN1 372 broad.mit.edu 37 11 118463521 118463521 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:118463521T>C uc009zag.3 + 7 1407 c.1205T>C c.(1204-1206)gTg>gCg p.V402A ARCN1_uc001ptq.3_Missense_Mutation_p.V361A|ARCN1_uc010ryg.2_Missense_Mutation_p.V273A NM_001142281 NP_001135753 P48444 COPD_HUMAN Homo sapiens archain 1 (ARCN1), transcript variant 2, mRNA. 361 MHD. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|clathrin adaptor complex|cytosol endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1) 13 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) GACGTAGGGGTGCTAAAGTGG 0.433000 118 39 0 0 0.002852 0 0 LGALS3BP 3959 broad.mit.edu 37 17 76967853 76967853 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:76967853T>C uc002jwh.3 - 5 1742 c.1563A>G c.(1561-1563)aaA>aaG p.K521K LGALS3BP_uc002jwi.3_Silent_p.K327K NM_005567 NP_005558 Q08380 LG3BP_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 3 binding protein (LGALS3BP), mRNA. 521 cell adhesion|cellular defense response extracellular space|membrane|proteinaceous extracellular matrix protein binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139) GCATCAGGGCTTTGTTTTCGT 0.602000 OREG0024787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 9 0 0 0.004482 0 0 NCOR2 9612 broad.mit.edu 37 12 124817777 124817777 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:124817777A>G uc021rga.1 - 41 6792 c.6675T>C c.(6673-6675)ggT>ggC p.G2225G NCOR2_uc021rgb.1_Silent_p.G2209G|NCOR2_uc010tbb.2_Silent_p.G2218G|NCOR2_uc010tbc.2_Silent_p.G2208G|NCOR2_uc021rgc.1_Silent_p.G2208G|NCOR2_uc010tax.2_Silent_p.G339G NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA. 2229 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CAGGTTCAATACCGTCCTCAC 0.627000 30 9 0 0 0.008291 0 0 CAPN13 92291 broad.mit.edu 37 2 30975988 30975988 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:30975988C>T uc021vfn.1 - 8 1050 c.1018G>A c.(1018-1020)Gga>Aga p.G340R CAPN13_uc021vfm.1_Missense_Mutation_p.G340R|CAPN13_uc002rnp.1_Missense_Mutation_p.G340R NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN Homo sapiens calpain 13 (CAPN13), mRNA. 340 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) AGTGTGTTTCCATGGTCCAGG 0.423000 131 70 0 0 0.003610 0 0 AREG 374 broad.mit.edu 37 4 75314910 75314910 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:75314910T>C uc021xpc.1 + 2 667 c.457T>C c.(457-459)Ttc>Ctc p.F153L NM_001657 NP_001648 P15514 AREG_HUMAN Homo sapiens amphiregulin (AREG), mRNA. 153 EGF-like. G-protein coupled receptor protein signaling pathway|cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|positive regulation of DNA replication cell surface|extracellular space|integral to membrane cytokine activity|growth factor activity lung(4) 4 Lung(101;0.196) ATTTCAAAATTTCTGCATTCA 0.323000 12 10 0 0 0.001855 0 0 STAG2 10735 broad.mit.edu 37 X 123200074 123200074 + Missense_Mutation SNP T G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrX:123200074T>G uc004eua.3 + 21 2550 c.2146T>G c.(2146-2148)Ttg>Gtg p.L716V STAG2_uc004etz.4_Missense_Mutation_p.L716V|STAG2_uc004eub.3_Missense_Mutation_p.L716V|STAG2_uc004euc.3_Missense_Mutation_p.L716V|STAG2_uc004eud.3_Missense_Mutation_p.L716V|STAG2_uc004eue.3_Missense_Mutation_p.L716V NM_001042749 NP_001036215 Q8N3U4 STAG2_HUMAN Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA. 716 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 TTACAAACTCTTGAAAACTGG 0.274000 72 24 0 0 0.003330 0 0 KSR2 283455 broad.mit.edu 37 12 118198982 118198982 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:118198982G>A uc001two.2 - 3 788 c.733C>T c.(733-735)Ccg>Tcg p.P245S NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 274 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCGTGCCCGGCGGGGTCACG 0.701000 167 82 0 0 0.003610 0 0 LENG8 114823 broad.mit.edu 37 19 54969155 54969155 + Missense_Mutation SNP A T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:54969155A>T uc002qfv.1 + 11 1909 c.1765A>T c.(1765-1767)Acc>Tcc p.T589S LENG8_uc002qfw.2_Missense_Mutation_p.T626S|LENG8_uc021vbk.1_5'Flank Q96PV6 LENG8_HUMAN Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA. 589 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) GGTGTACGAGACCCATGCCCG 0.662000 31 6 0 0 0.006214 0 0 DUSP21 63904 broad.mit.edu 37 X 44703829 44703829 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrX:44703829G>A uc004dgd.3 + 0 581 c.451G>A c.(451-453)Gaa>Aaa p.E151K NM_022076 NP_071359 Q9H596 DUS21_HUMAN Homo sapiens dual specificity phosphatase 21 (DUSP21), mRNA. 151 Tyrosine-protein phosphatase. cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3) 19 CGGCTTTTGGGAACAGCTCAT 0.517000 18 18 0 0 0.007413 0 0 PRELP 5549 broad.mit.edu 37 1 203452498 203452498 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:203452498C>T uc001gzs.3 + 1 386 c.186C>T c.(184-186)ctC>ctT p.L62L PRELP_uc001gzt.3_Silent_p.L62L NM_002725 NP_958505 P51888 PRELP_HUMAN Homo sapiens proline/arginine-rich end leucine-rich repeat protein (PRELP), transcript variant 1, mRNA. 62 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent p.P61P(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 BRCA - Breast invasive adenocarcinoma(75;0.109) CTCCTCCCCTCCCTCCAGGCC 0.642000 36 45 0 0 0.002852 0 0 NOX5 79400 broad.mit.edu 37 15 69325546 69325546 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:69325546G>A uc002ars.2 + 4 825 c.784G>A c.(784-786)Gac>Aac p.D262N MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.D216N|NOX5_uc002arp.2_Missense_Mutation_p.D244N|NOX5_uc010bid.2_Missense_Mutation_p.D227N|NOX5_uc010bie.2_Missense_Mutation_p.D62N|NOX5_uc002arr.2_Missense_Mutation_p.D234N|NOX5_uc010bif.2_Non-coding_Transcript NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 262 angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 CGCGCACCGGGACCTCGGCGC 0.682000 20 11 0 0 0.000978 0 0 AFTPH 54812 broad.mit.edu 37 2 64778975 64778975 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:64778975A>G uc002sdc.3 + 0 399 c.367A>G c.(367-369)Act>Gct p.T123A AFTPH_uc002scz.3_Missense_Mutation_p.T123A|AFTPH_uc002sda.3_Missense_Mutation_p.T123A|AFTPH_uc002sdb.3_Missense_Mutation_p.T123A NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA. 123 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 AATGTTAGCTACTTCCATTGA 0.383000 41 11 0 0 0.001368 0 0 AHNAK2 113146 broad.mit.edu 37 14 105405320 105405320 + Missense_Mutation SNP G C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:105405320G>C uc010axc.1 - 6 16588 c.16468C>G c.(16468-16470)Ctc>Gtc p.L5490V AHNAK2_uc021sen.1_Missense_Mutation_p.L887V|AHNAK2_uc021seo.1_Missense_Mutation_p.L488V|AHNAK2_uc001ypx.2_Missense_Mutation_p.L5390V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 5490 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGTACTGAGAGATCTACAAAC 0.448000 15 6 0 0 0.001984 0 0 GOLGA3 2802 broad.mit.edu 37 12 133365873 133365873 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:133365873T>C uc001ukz.1 - 12 3110 c.2551A>G c.(2551-2553)Atg>Gtg p.M851V GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.M851V|GOLGA3_uc001ulb.3_Missense_Mutation_p.M851V NM_005895 NP_005886 Q08378 GOGA3_HUMAN Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA. 851 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCCTCCACCATCACCTGCCAA 0.617000 21 3 0 0 0.004672 0 0 OR13C3 138803 broad.mit.edu 37 9 107298603 107298603 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:107298603G>A uc004bcb.1 - 0 492 c.492C>T c.(490-492)atC>atT p.I164I NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA. 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 TGCTCAGGATGATGGGGTATC 0.478000 72 49 0 0 0.003610 0 0 UQCRC1 7384 broad.mit.edu 37 3 48646675 48646675 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:48646675A>G uc003cub.1 - 1 175 c.130T>C c.(130-132)Ttc>Ctc p.F44L NM_003365 NP_003356 P31930 QCR1_HUMAN Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA. 44 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) TCCGGCACGAACTGGAGCGCC 0.662000 35 9 0 0 0.004482 0 0 RAC1 5879 broad.mit.edu 37 7 6426848 6426848 + Missense_Mutation SNP T A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:6426848T>A uc003spx.3 + 1 282 c.41T>A c.(40-42)gTa>gAa p.V14E RAC1_uc003spw.3_Missense_Mutation_p.V14E|RAC1_uc021zzg.1_5'UTR NM_006908 NP_008839 P63000 RAC1_HUMAN Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA. 14 T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) TTTAGAGCTGTAGGTAAAACT 0.313000 115 20 0 0 0.008871 0 0 LRP10 26020 broad.mit.edu 37 14 23345368 23345368 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:23345368T>C uc001whd.3 + 4 1764 c.1211T>C c.(1210-1212)tTc>tCc p.F404S LRP10_uc001whe.3_Missense_Mutation_p.F280S NM_014045 NP_054764 Q7Z4F1 LRP10_HUMAN Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA. 404 LDL-receptor class A 4. endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) CCTGGCAATTTCCGATGCCGG 0.592000 68 12 0 0 0.000978 0 0 F11R 50848 broad.mit.edu 37 1 160969507 160969507 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:160969507G>A uc009wtt.3 - 6 995 c.725C>T c.(724-726)gCc>gTc p.A242V F11R_uc010pjv.2_Missense_Mutation_p.A193V|F11R_uc010pjw.2_Missense_Mutation_p.A246V|F11R_uc001fxf.4_Missense_Mutation_p.A242V NM_016946 NP_058642 Q9Y624 JAM1_HUMAN Homo sapiens F11 receptor (F11R), mRNA. 242 blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) TACAAGGACGGCTGCCACGAT 0.532000 28 17 0 0 0.001523 0 0 SAMD9 54809 broad.mit.edu 37 7 92733845 92733845 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:92733845C>T uc003umf.3 - 2 1836 c.1566G>A c.(1564-1566)agG>agA p.R522R SAMD9_uc003umg.3_Silent_p.R522R|SAMD9_uc022ahg.1_Silent_p.R522R NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 522 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) AAATCAGTTTCCTGACATCAG 0.418000 73 140 0 0 0.003610 0 0 MCPH1 79648 broad.mit.edu 37 8 6479203 6479203 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:6479203T>C uc003wqi.3 + 12 2519 c.2443T>C c.(2443-2445)Tgg>Cgg p.W815R NM_024596 NP_078872 Q8NEM0 MCPH1_HUMAN Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA. 815 BRCT 3. microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) GTCTGAGAAATGGGTCTTAGG 0.597000 29 23 0 0 0.005443 0 0 LIN7A 8825 broad.mit.edu 37 12 81205378 81205378 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:81205378G>A uc001szj.1 - 4 761 c.568C>T c.(568-570)Cca>Tca p.P190S LIN7A_uc001szk.1_Non-coding_Transcript NM_004664 NP_004655 O14910 LIN7A_HUMAN Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA. 190 PDZ. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 AGAACTTTTGGGGTGTATCGC 0.498000 44 20 0 0 0.008871 0 0 SLC6A6 6533 broad.mit.edu 37 3 14513721 14513721 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:14513721C>T uc010heg.3 + 9 1404 c.1105C>T c.(1105-1107)Ctg>Ttg p.L369L SLC6A6_uc003byq.3_Silent_p.L369L|SLC6A6_uc003byr.3_Non-coding_Transcript NM_001134367 NP_003034 P31641 SC6A6_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA. 369 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 AGGTCCTGGCCTGGCCTTCAT 0.512000 32 24 0 0 0.006320 0 0 GABRR3 200959 broad.mit.edu 37 3 97726706 97726706 + RNA SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:97726706C>T uc021xbo.1 - 6 c.773G>A GABRR3_uc021xbp.1_Intron NM_001105580 A8MPY1 GBRR3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA. gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity large_intestine(2)|lung(1) 3 GGACTTGTTTCCGTGTTTCCA 0.373000 15 7 0 0 0.001984 0 0 C10orf71 118461 broad.mit.edu 37 10 50531444 50531444 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:50531444C>T uc021pqb.1 + 0 854 c.854C>T c.(853-855)cCa>cTa p.P285L C10orf71_uc021pqa.1_Missense_Mutation_p.P284L|C10orf71_uc021pqc.1_Missense_Mutation_p.P285L NM_001135196 NP_001128668 Q711Q0 CJ071_HUMAN Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA. 285 p.P285Q(2) endometrium(1) 1 GCCCACCAACCAAAGCTGCTG 0.532000 8 12 0 0 0.000978 0 0 KIF2C 11004 broad.mit.edu 37 1 45232824 45232824 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:45232824A>G uc001cmg.4 + 20 2266 c.2151A>G c.(2149-2151)caA>caG p.Q717Q KIF2C_uc010olb.2_Silent_p.Q676Q|KIF2C_uc010olc.2_Silent_p.Q604Q|KIF2C_uc001cmh.4_Silent_p.Q663Q NM_006845 NP_006836 Q99661 KIF2C_HUMAN Homo sapiens kinesin family member 2C (KIF2C), mRNA. 717 blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1) 34 Acute lymphoblastic leukemia(166;0.155) CTAGCAGACAAATAAGCAGCA 0.522000 40 16 0 0 0.004990 0 0 FNDC3B 64778 broad.mit.edu 37 3 172080540 172080540 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:172080540T>C uc003fhy.3 + 22 3085 c.2913T>C c.(2911-2913)ccT>ccC p.P971P FNDC3B_uc003fhz.4_Silent_p.P971P NM_022763 NP_073600 Q53EP0 FND3B_HUMAN Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA. 971 Fibronectin type-III 8. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) CTGCTGGTCCTCAGAGCCTGA 0.473000 68 12 0 0 0.001855 0 0 FUT5 2527 broad.mit.edu 37 19 5867711 5867712 + Missense_Mutation DNP GG AT AT TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:5867711_5867712GG>AT uc002mdo.4 - 1 196_197 c.25_26CC>AT c.(25-27)cca>ATa p.P9I FUT5_uc010duo.3_Missense_Mutation_p.P9I|FUT5_uc021uno.1_Missense_Mutation_p.P9I NM_002034 NP_002025 Q11128 FUT5_HUMAN Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA. 9 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 CAGCCACTGTGGCTTGGCTGGG 0.604000 28 9 0 0 0.004672 0 0 STIL 6491 broad.mit.edu 37 1 47717465 47717465 + Silent SNP C A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:47717465C>A uc001crd.1 - 16 3365 c.3210G>T c.(3208-3210)ctG>ctT p.L1070L TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.L1023L|STIL_uc010omo.1_Silent_p.L1052L|STIL_uc001crc.1_Silent_p.L1069L|STIL_uc001cre.1_Silent_p.L1069L NM_001048166 NP_001041631 Q15468 STIL_HUMAN Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA. 1069 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TTAAATATTTCAGAGCTATAG 0.403000 49 49 1.83081e-24 3.22806e-24 0.003610 1 0 MUC16 94025 broad.mit.edu 37 19 9046787 9046787 + Missense_Mutation SNP C G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:9046787C>G uc002mkp.3 - 4 35048 c.34844G>C c.(34843-34845)aGg>aCg p.R11615T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11617 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 AACACCTGACCTCGTGTCTAC 0.507000 50 23 0 0 0.002299 0 0 SGIP1 84251 broad.mit.edu 37 1 67208756 67208756 + Splice_Site SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:67208756G>A uc001dcr.3 + 25 2682 c.2465_splice c.e25-1 p.G822_splice SGIP1_uc010opd.2_Splice_Site_p.G422_splice|SGIP1_uc001dcs.3_Splice_Site_p.G422_splice|SGIP1_uc001dct.3_Splice_Site_p.G424_splice|SGIP1_uc009wat.3_Splice_Site_p.G616_splice|SGIP1_uc001dcu.3_Splice_Site_p.G327_splice NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA. 822 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex SH3 domain binding|microtubule binding|phospholipid binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 TGTTTTGCAGGAAAATACTTG 0.343000 24 43 0 0 0.003610 0 0 PTPN12 5782 broad.mit.edu 37 7 77261684 77261684 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:77261684T>C uc003ugh.2 + 13 2107 c.2016T>C c.(2014-2016)gaT>gaC p.D672D PTPN12_uc011kgp.1_Silent_p.D553D|PTPN12_uc011kgq.1_Silent_p.D542D|PTPN12_uc010lds.2_Silent_p.D404D NM_002835 NP_002826 Q05209 PTN12_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA. 672 soluble fraction SH3 domain binding|non-membrane spanning protein tyrosine phosphatase activity breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 TTAGTGAAGATTCACCTCCTC 0.313000 238 22 0 0 0.002299 0 0 LYVE1 10894 broad.mit.edu 37 11 10580718 10580718 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:10580718G>A uc001miv.2 - 5 1195 c.909C>T c.(907-909)aaC>aaT p.N303N MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|LYVE1_uc010rca.1_Silent_p.N199N NM_006691 NP_006682 Q9Y5Y7 LYVE1_HUMAN Homo sapiens lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1), mRNA. 303 anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport integral to plasma membrane|membrane fraction central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609) ACTCTTCTGGGTTTTTATCAG 0.433000 63 46 0 0 0.003610 0 0 NUAK2 81788 broad.mit.edu 37 1 205273082 205273083 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:205273082_205273083GG>AA uc001hce.3 - 6 1509_1510 c.1382_1383CC>TT c.(1381-1383)tcc>tTT p.S461F NM_030952 NP_112214 Q9H093 NUAK2_HUMAN Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA. 461 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) GCTCGGGAGAGGAGTAGTAGCC 0.639000 23 4 0 0 0.004672 0 0 EPPK1 83481 broad.mit.edu 37 8 144947161 144947161 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:144947161G>A uc003zaa.1 - 0 274 c.261C>T c.(259-261)ctC>ctT p.L87L NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 87 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGCCCCGGGCGAGGTCCACCA 0.706000 13 10 0 0 0.008291 0 0 LRFN3 79414 broad.mit.edu 37 19 36430468 36430468 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:36430468G>A uc002oco.3 + 1 593 c.141G>A c.(139-141)ggG>ggA p.G47G NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA. 47 LRRNT. cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TGTGCCCAGGGGCAGGCCTCC 0.721000 9 5 0 0 0.000602 0 0 PARP6 56965 broad.mit.edu 37 15 72545814 72545814 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:72545814T>C uc002auc.3 - 14 1682 c.1223A>G c.(1222-1224)gAc>gGc p.D408G PARP6_uc002aua.3_Missense_Mutation_p.D253G|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Missense_Mutation_p.D408G NM_020214 NP_064599 Q2NL67 PARP6_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA. 408 PARP catalytic. NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 ATCCAACTTGTCCATCTGTTT 0.488000 40 11 0 0 0.000978 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23069647 23069647 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:23069647C>T uc003xda.3 - 1 491 c.385G>A c.(385-387)Gga>Aga p.G129R NM_003844 NP_003835 O00220 TR10A_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA. 129 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) CACAACTCTCCCAAAGGGCTA 0.423000 19 16 0 0 0.004990 0 0 PHF12 57649 broad.mit.edu 37 17 27240251 27240251 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:27240251A>G uc002hdg.1 - 8 1868 c.1338T>C c.(1336-1338)caT>caC p.H446H PHF12_uc010wbb.1_Silent_p.H428H|PHF12_uc002hdi.1_Silent_p.H442H|PHF12_uc002hdj.1_Silent_p.H446H|PHF12_uc010crw.1_Silent_p.H149H|PHF12_uc002hdh.1_Silent_p.H229H NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA. 446 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) TAGCAGATAAATGTTTCAATA 0.522000 123 22 0 0 0.002299 0 0 MXRA5 25878 broad.mit.edu 37 X 3241577 3241577 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrX:3241577G>A uc004crg.4 - 4 2306 c.2149C>T c.(2149-2151)Cca>Tca p.P717S NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 717 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGGTCCTTTGGATGCAGAAGT 0.483000 13 29 0 0 0.005443 0 0 TBCE 6905 broad.mit.edu 37 1 235543432 235543432 + Missense_Mutation SNP T A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:235543432T>A uc010pxr.1 + 1 191 c.68T>A c.(67-69)gTa>gAa p.V23E TBCE_uc010pxq.1_Non-coding_Transcript|TBCE_uc001hwz.1_Missense_Mutation_p.V23E|TBCE_uc001hxa.1_Missense_Mutation_p.V23E|TBCE_uc001hxb.1_5'UTR NM_003193 NP_003184 Q15813 TBCE_HUMAN Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA. 23 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) CATGCAACAGTACGTTTTGCT 0.423000 107 5 0 0 0.001168 0 0 MAP3K12 7786 broad.mit.edu 37 12 53876438 53876438 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:53876438C>T uc001sdn.2 - 10 2420 c.2149G>A c.(2149-2151)Ggg>Agg p.G717R MAP3K12_uc001sdm.2_Missense_Mutation_p.G684R NM_001193511 NP_001180440 Q12852 M3K12_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA. 684 JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 CCTGAGGTCCCTTCCCTTCCA 0.637000 79 36 0 0 0.002522 0 0 GJB4 127534 broad.mit.edu 37 1 35227570 35227570 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:35227570C>T uc001bxw.4 + 0 715 c.715C>T c.(715-717)Ctc>Ttc p.L239F GJB4_uc001bxv.1_Missense_Mutation_p.L239F NM_153212 NP_694944 Q9NTQ9 CXB4_HUMAN Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA. 239 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) ACCATATGTCCTCTCCCAGGG 0.622000 29 15 0 0 0.008871 0 0 ASTN1 460 broad.mit.edu 37 1 177001820 177001820 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:177001820C>T uc001glc.3 - 2 849 c.637G>A c.(637-639)Gga>Aga p.G213R ASTN1_uc001glb.1_Missense_Mutation_p.G213R|ASTN1_uc001gld.1_Missense_Mutation_p.G213R|ASTN1_uc009wwx.1_Missense_Mutation_p.G213R|ASTN1_uc001gle.4_Non-coding_Transcript NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 213 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CTCTCCCGTCCGTGCCCGCCG 0.622000 77 15 0 0 0.004990 0 0 DOT1L 84444 broad.mit.edu 37 19 2226269 2226269 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:2226269A>G uc002lvc.1 + 12 2398 c.1631A>G c.(1630-1632)gAc>gGc p.D544G DOT1L_uc002lvb.4_Missense_Mutation_p.D1250G NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA. 1250 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 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) CCCATCTCCGACATCGGCCTG 0.677000 22 3 0 0 0.004672 0 0 ARID2 196528 broad.mit.edu 37 12 46246415 46246415 + Silent SNP T G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:46246415T>G uc001ros.1 + 14 4509 c.4509T>G c.(4507-4509)gtT>gtG p.V1503V ARID2_uc001ror.3_Silent_p.V1503V|ARID2_uc009zkg.1_Silent_p.V959V|ARID2_uc009zkh.1_Silent_p.V1130V|ARID2_uc001rou.1_Silent_p.V837V NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 1503 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CATCTGACGTTCGGTCTACAA 0.443000 """N, S, F""" hepatocellular carcinoma 56 43 0 0 0.003214 0 0 SUMO2 6613 broad.mit.edu 37 17 73164463 73164463 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:73164463A>G uc002jne.3 - 3 428 c.259T>C c.(259-261)Ttc>Ctc p.F87L SUMO2_uc002jnf.3_Missense_Mutation_p.F63L NM_006937 NP_008868 P61956 SUMO2_HUMAN Homo sapiens SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) (SUMO2), transcript variant 1, mRNA. 87 Ubiquitin-like. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation nucleus ubiquitin protein ligase binding NS(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) TGCTGTTGGAACACATCAATT 0.348000 8 10 0 0 0.001855 0 0 DBX1 120237 broad.mit.edu 37 11 20178610 20178610 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:20178610C>T uc021qez.1 - 2 645 c.642G>A c.(640-642)gcG>gcA p.A214A DBX1_uc021qey.1_Silent_p.A215A NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN Homo sapiens developing brain homeobox 1 (DBX1), mRNA. 215 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 CCAGCTTGGCCGCCAGCTTCT 0.642000 29 14 0 0 0.001855 0 0 C3orf19 51244 broad.mit.edu 37 3 14696016 14696016 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:14696016A>G uc003byw.3 + 1 217 c.126A>G c.(124-126)ggA>ggG p.G42G C3orf19_uc010hei.1_Silent_p.G42G NM_016474 NP_057558 Q6PII3 CC019_HUMAN Homo sapiens chromosome 3 open reading frame 19 (C3orf19), mRNA. 42 endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 14 GAGTTTTTGGAAAACCAAAAA 0.308000 30 5 0 0 0.000602 0 0 SEMA4B 10509 broad.mit.edu 37 15 90771687 90771687 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:90771687G>A uc002boy.3 + 14 2609 c.2326G>A c.(2326-2328)Ggg>Agg p.G776R SEMA4B_uc002boz.3_Missense_Mutation_p.G776R|SEMA4B_uc010uqd.2_Missense_Mutation_p.G614R|SEMA4B_uc002bpa.3_Missense_Mutation_p.G614R NM_020210 NP_945119 Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B (SEMA4B), transcript variant 1, mRNA. NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1) 12 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) CAACGGCCTAGGGCCCCCTAG 0.647000 14 3 0 0 0.000248 0 0 PLCG2 5336 broad.mit.edu 37 16 81888101 81888101 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:81888101C>T uc002fgt.3 + 2 424 c.246C>T c.(244-246)ttC>ttT p.F82F PLCG2_uc010chg.1_Silent_p.F82F NM_002661 NP_002652 P16885 PLCG2_HUMAN Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA. 82 PH. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CCAAAGATTTCGAGCGAGCAA 0.468000 76 16 0 0 0.004007 0 0 CENPF 1063 broad.mit.edu 37 1 214830532 214830532 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:214830532T>C uc001hkm.3 + 17 8916 c.8742T>C c.(8740-8742)ccT>ccC p.P2914P NM_016343 NP_057427 P49454 CENPF_HUMAN Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA. 3010 Sufficient for centromere localization.|Sufficient for self-association. DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CTCCAATCCCTTCTGTTACTG 0.468000 204 24 0 0 0.003954 0 0 ZNF449 203523 broad.mit.edu 37 X 134494127 134494127 + Missense_Mutation SNP T A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrX:134494127T>A uc004eys.3 + 4 848 c.683T>A c.(682-684)aTc>aAc p.I228N ZNF449_uc004eyt.3_Missense_Mutation_p.I108N|ZNF449_uc004eyu.3_Missense_Mutation_p.I34N NM_152695 NP_689908 Q6P9G9 ZN449_HUMAN Homo sapiens zinc finger protein 449 (ZNF449), mRNA. 228 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGTTTTGAGATCGGGATAGAA 0.363000 29 8 0 0 0.003080 0 0 LCTL 197021 broad.mit.edu 37 15 66857161 66857161 + Silent SNP C A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:66857161C>A uc002aqc.3 - 1 267 c.135G>T c.(133-135)gtG>gtT p.V45V LCTL_uc002aqd.4_Intron|LCTL_uc010bhw.3_5'UTR NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN Homo sapiens lactase-like (LCTL), mRNA. 45 carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds p.G44G(1) 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 CAGAACTGCCCACGCCCCAGG 0.657000 87 5 0.00116845 0.00201055 0.001168 1 0 OR1J4 26219 broad.mit.edu 37 9 125282298 125282298 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:125282298G>A uc011lyw.2 + 0 879 c.879G>A c.(877-879)agG>agA p.R293R NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA. 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 ATAGCCTAAGGAACAGGGACA 0.458000 20 23 0 0 0.007291 0 0 HTATSF1 27336 broad.mit.edu 37 X 135586611 135586611 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrX:135586611A>G uc004ezw.3 + 6 1245 c.823A>G c.(823-825)Atg>Gtg p.M275V HTATSF1_uc004ezx.3_Missense_Mutation_p.M275V NM_001163280 NP_055315 O43719 HTSF1_HUMAN Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA. 275 RRM 2. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus RNA binding|nucleotide binding|protein binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) GTTTCATCCTATGGATTTTGA 0.493000 20 35 0 0 0.004289 0 0 MUC16 94025 broad.mit.edu 37 19 9086883 9086883 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:9086883G>A uc002mkp.3 - 0 5136 c.4932C>T c.(4930-4932)acC>acT p.T1644T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1644 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 CTATGCCCAGGGTGACTCCAC 0.512000 61 39 0 0 0.007835 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58596343 58596344 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:58596343_58596344GG>AA uc010yht.1 - 6 1439_1440 c.1409_1410CC>TT c.(1408-1410)gcc>gTT p.A470V ZSCAN18_uc002qrj.3_Missense_Mutation_p.A413V|ZSCAN18_uc010yhs.1_Missense_Mutation_p.A278V|ZSCAN18_uc002qrh.2_Missense_Mutation_p.A414V|ZSCAN18_uc002qri.2_Missense_Mutation_p.A414V|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR NM_001145542 NP_001139014 Q8TBC5 ZSC18_HUMAN Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA. 414 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Y469Y(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) ACTCGCCGCAGGCATAGGGCTT 0.723000 9 5 0 0 0.004672 0 0 FMR1 2332 broad.mit.edu 37 X 147022103 147022103 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrX:147022103A>G uc010nst.3 + 12 1426 c.1197A>G c.(1195-1197)gtA>gtG p.V399V FMR1_uc004fcj.3_Silent_p.V376V|FMR1_uc022cgc.1_Silent_p.V399V|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Silent_p.V378V|FMR1_uc022cge.1_Silent_p.V378V|FMR1_uc022cgf.1_Silent_p.V378V|FMR1_uc022cgg.1_Non-coding_Transcript|FMR1_uc004fcl.4_Silent_p.V239V|FMR1_uc011mxa.2_Silent_p.V46V NM_002024 NP_002015 Q06787 FMR1_HUMAN Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA. 399 mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(192;6.56e-05) AGGGTATGGTACCATTTGTTT 0.343000 Fragile X syndrome 72 34 0 0 0.004878 0 0 SCARF1 8578 broad.mit.edu 37 17 1538608 1538608 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:1538608G>A uc002fsz.1 - 10 1987 c.1937C>T c.(1936-1938)tCc>tTc p.S646F SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.S560F NM_003693 NP_003684 Q14162 SREC_HUMAN Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA. 646 Gly-rich. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CGCCGGAAAGGACTCGGGGGC 0.697000 21 6 0 0 0.001984 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52001489 52001489 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:52001489G>A uc002pwx.1 - 4 1244 c.1188C>T c.(1186-1188)tcC>tcT p.S396S SIGLEC12_uc002pww.1_Silent_p.S278S|SIGLEC12_uc010eoy.1_Silent_p.S123S NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA. 396 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) CAAGGTGCAGGGACTGGCCCT 0.602000 16 17 0 0 0.001523 0 0 RAD51B 5890 broad.mit.edu 37 14 68352645 68352645 + Missense_Mutation SNP T A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:68352645T>A uc001xkf.2 + 5 589 c.512T>A c.(511-513)cTt>cAt p.L171H RAD51B_uc010aqq.3_Missense_Mutation_p.L171H|RAD51B_uc001xkd.3_Missense_Mutation_p.L171H|RAD51B_uc010aqr.3_Missense_Mutation_p.L52H|RAD51B_uc001xke.3_Missense_Mutation_p.L171H|RAD51B_uc001xkg.2_Missense_Mutation_p.L171H NM_133509 NP_598193 O15315 RA51B_HUMAN Homo sapiens RAD51 homolog B (S. cerevisiae) (RAD51B), transcript variant 3, mRNA. 171 DNA repair|blood coagulation|reciprocal meiotic recombination nucleoplasm ATP binding|DNA binding|DNA-dependent ATPase activity HMGA2/RAD51B(11) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 GAAAAGTTACTTTTGACAAGT 0.348000 Direct reversal of damage 125 27 0 0 0.005443 0 0 DCAF5 8816 broad.mit.edu 37 14 69521377 69521377 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:69521377T>C uc001xkp.3 - 8 2245 c.2026A>G c.(2026-2028)Aat>Gat p.N676D DCAF5_uc001xkq.3_Missense_Mutation_p.N675D NM_003861 NP_003852 Q96JK2 DCAF5_HUMAN Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA. 676 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 TCTTTGTTATTTGAGTAGGAG 0.478000 99 21 0 0 0.002299 0 0 WDR12 55759 broad.mit.edu 37 2 203765755 203765755 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:203765755A>G uc002uzl.3 - 2 974 c.224T>C c.(223-225)aTc>aCc p.I75T NM_018256 NP_060726 Q9GZL7 WDR12_HUMAN Homo sapiens WD repeat domain 12 (WDR12), mRNA. 75 I -> V (in dbSNP:rs35212307). cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) PeBoW complex|nucleoplasm|preribosome, large subunit precursor protein binding endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1) 13 TACTGATGAGATGTTCTCCAT 0.373000 379 15 0 0 0.004007 0 0 SFXN4 119559 broad.mit.edu 37 10 120925159 120925159 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:120925159T>C uc001leb.3 - 0 46 c.1A>G c.(1-3)Atg>Gtg p.M1V SFXN4_uc001lea.3_Non-coding_Transcript NM_213649 NP_998814 Q6P4A7 SFXN4_HUMAN Homo sapiens sideroflexin 4 (SFXN4), mRNA. 1 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 11 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0261) TCCAGGGACATTTTGCGCTGG 0.716000 35 7 0 0 0.003080 0 0 RIF1 55183 broad.mit.edu 37 2 152299813 152299813 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:152299813A>G uc002txm.3 + 16 1936 c.1775A>G c.(1774-1776)aAt>aGt p.N592S RIF1_uc010fnv.2_Missense_Mutation_p.N556S|RIF1_uc002txn.3_Missense_Mutation_p.N592S|RIF1_uc002txl.3_Missense_Mutation_p.N592S|RIF1_uc002txo.3_Missense_Mutation_p.N592S|RIF1_uc010zby.1_Non-coding_Transcript NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA. 592 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) ATTTTCAACAATTTCTTGGAA 0.294000 50 4 0 0 0.000248 0 0 PLEC 5339 broad.mit.edu 37 8 145008819 145008819 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:145008819A>G uc003zaf.1 - 9 1606 c.1436T>C c.(1435-1437)aTc>aCc p.I479T PLEC_uc003zab.1_Missense_Mutation_p.I342T|PLEC_uc003zac.1_Missense_Mutation_p.I346T|PLEC_uc003zad.2_Missense_Mutation_p.I342T|PLEC_uc003zae.1_Missense_Mutation_p.I310T|PLEC_uc003zag.1_Missense_Mutation_p.I320T|PLEC_uc003zah.2_Missense_Mutation_p.I328T|PLEC_uc003zaj.2_Missense_Mutation_p.I369T NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 479 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGATTGGTAGATGCCCTTGGA 0.617000 124 14 0 0 0.006122 0 0 FAM83H 286077 broad.mit.edu 37 8 144810185 144810185 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:144810185A>G uc003yzk.3 - 4 1515 c.1446T>C c.(1444-1446)ggT>ggC p.G482G NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA. 482 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GGTCCGCGAAACCCGCGCGGC 0.726000 42 6 0 0 0.001168 0 0 EEFSEC 60678 broad.mit.edu 37 3 127965712 127965712 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:127965712T>C uc003eki.3 + 1 388 c.350T>C c.(349-351)aTc>aCc p.I117T NM_021937 NP_068756 P57772 SELB_HUMAN Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA. 117 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 ATGCTGGTCATCGATGTGACC 0.522000 184 29 0 0 0.007291 0 0 ESYT1 23344 broad.mit.edu 37 12 56524849 56524849 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:56524849T>C uc001sjr.3 + 3 711 c.593T>C c.(592-594)gTt>gCt p.V198A ESYT1_uc001sjq.3_Missense_Mutation_p.V198A NM_001184796 NP_001171725 Q9BSJ8 ESYT1_HUMAN Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA. 198 integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 GGAGTCAAGGTTCACCCAGGT 0.512000 36 5 0 0 0.001168 0 0 TPM3 7170 broad.mit.edu 37 1 154164465 154164465 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:154164465C>T uc001fec.1 - 0 145 c.30G>A c.(28-30)caG>caA p.Q10Q NM_152263 NP_689476 P06753 TPM3_HUMAN Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA. 9 cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) ACTTCAGCATCTGCATCTTTT 0.512000 T """NTRK1, ALK, ROS1""" """papillary thyroid, ALCL, NSCLC""" 17 65 0 0 0.003610 0 0 RASA2 5922 broad.mit.edu 37 3 141272713 141272713 + Missense_Mutation SNP A T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:141272713A>T uc010huq.1 + 5 542 c.542A>T c.(541-543)cAt>cTt p.H181L RASA2_uc003etz.1_Missense_Mutation_p.H181L|RASA2_uc003eua.1_Missense_Mutation_p.H181L|RASA2_uc011bnc.1_5'UTR NM_006506 NP_006497 Q15283 RASA2_HUMAN Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA. 181 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm Ras GTPase activator activity|metal ion binding p.C180C(1) NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 AAGGCATGCCATGGGTTGCCT 0.328000 140 23 0 0 0.001786 0 0 ABI3BP 25890 broad.mit.edu 37 3 100469405 100469405 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:100469405A>G uc003dun.3 - 34 3247 c.3162T>C c.(3160-3162)ggT>ggC p.G1054G ABI3BP_uc003duj.3_Silent_p.G634G|ABI3BP_uc003duk.3_Silent_p.G763G|ABI3BP_uc003dul.3_Silent_p.G884G|ABI3BP_uc011bhd.2_Silent_p.G1008G|ABI3BP_uc003dum.3_Silent_p.G465G NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA. 1054 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 GGGTGTGACCACCTATTTCTC 0.383000 138 31 0 0 0.003755 0 0 TG 7038 broad.mit.edu 37 8 133900485 133900485 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:133900485A>G uc003ytw.3 + 9 2474 c.2433A>G c.(2431-2433)gaA>gaG p.E811E NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 811 Thyroglobulin type-1 7. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity p.R810T(1) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GCTACAGAGAAGCAGCTTCCG 0.512000 67 14 0 0 0.002450 0 0 SCN11A 11280 broad.mit.edu 37 3 38945409 38945410 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:38945409_38945410CC>TT uc021wvy.1 - 11 1987_1988 c.1788_1789GG>AA c.(1786-1791)atggag>atAAag p.596_597ME>IK NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 596 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TTGTGATGCTCCATGGCCAAGA 0.396000 54 23 0 0 0.004672 0 0 ATG2A 23130 broad.mit.edu 37 11 64673911 64673911 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:64673911T>C uc001obx.3 - 20 3193 c.3078A>G c.(3076-3078)gaA>gaG p.E1026E NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA. 1026 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 CGGTCACCCCTTCCTCCGATG 0.682000 35 7 0 0 0.003080 0 0 TERT 7015 broad.mit.edu 37 5 1264604 1264604 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:1264604C>T uc003jcb.1 - 10 2816 c.2758G>A c.(2758-2760)Gtt>Att p.V920I TERT_uc003jbz.1_Missense_Mutation_p.V116I|TERT_uc003jcc.1_Intron|TERT_uc003jca.1_Missense_Mutation_p.V908I|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Missense_Mutation_p.V72I NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 920 Required for oligomerization.|Reverse transcriptase. DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity p.G920S(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGCATCTGAACAAAAGCCGTG 0.632000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 46 11 0 0 0.000978 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31488683 31488683 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:31488683C>T uc002ecd.2 + 10 1206 c.1172C>T c.(1171-1173)cCg>cTg p.P391L TGFB1I1_uc021tgx.1_Missense_Mutation_p.P374L|TGFB1I1_uc002ece.2_Missense_Mutation_p.P374L NM_001042454 NP_057011 O43294 TGFI1_HUMAN Homo sapiens transforming growth factor beta 1 induced transcript 1 (TGFB1I1), transcript variant 1, mRNA. 391 LIM zinc-binding 3. Wnt receptor signaling pathway|androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process cytoplasm|cytoskeleton|focal adhesion|nuclear matrix I-SMAD binding|Roundabout binding|androgen receptor binding|transcription coactivator activity|zinc ion binding lung(8)|upper_aerodigestive_tract(1) 9 GAGGGCCGCCCGTTGTGCGAG 0.682000 15 7 0 0 0.004482 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187692816 187692816 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:187692816C>T uc002upu.1 - 8 1837 c.1797G>A c.(1795-1797)ggG>ggA p.G599G NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA. 599 apoptosis zinc ion binding p.M598I(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) GTGTAATTTCCCCCATACAGT 0.343000 52 29 0 0 0.007291 0 0 C17orf56 146705 broad.mit.edu 37 17 79202796 79202796 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:79202796A>G uc002jzu.2 - 11 1568 c.1510T>C c.(1510-1512)Tcc>Ccc p.S504P C17orf56_uc002jzr.2_Missense_Mutation_p.S174P|C17orf56_uc002jzs.2_Missense_Mutation_p.S420P|C17orf56_uc002jzt.2_Missense_Mutation_p.S420P|C17orf56_uc002jzv.2_Missense_Mutation_p.S352P|AL832593_uc002jzw.1_Non-coding_Transcript NM_144679 NP_653280 Q96N21 CQ056_HUMAN Homo sapiens chromosome 17 open reading frame 56 (C17orf56), mRNA. 504 integral to membrane endometrium(1)|kidney(1)|lung(5)|prostate(1)|skin(3) 11 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GTCCTCTGGGACGATGTTTGG 0.662000 33 6 0 0 0.004482 0 0 RELN 5649 broad.mit.edu 37 7 103270546 103270546 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:103270546G>A uc022ajr.1 - 19 2703 c.2543C>T c.(2542-2544)tCc>tTc p.S848F RELN_uc022ajq.1_Missense_Mutation_p.S848F|RELN_uc010liz.3_Missense_Mutation_p.S848F NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 848 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTCTCTCTGGGAAGAATGATA 0.393000 70 23 0 0 0.005443 0 0 NSMAF 8439 broad.mit.edu 37 8 59511825 59511825 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:59511825T>C uc011lee.2 - 18 1705 c.1644A>G c.(1642-1644)aaA>aaG p.K548K NSMAF_uc003xtt.3_Silent_p.K517K NM_001144772 NP_001138244 Q92636 FAN_HUMAN Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA. 517 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) TCCCTTTTTGTTTGTAGCCAA 0.368000 212 25 0 0 0.005443 0 0 DENND2A 27147 broad.mit.edu 37 7 140219486 140219486 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:140219486C>T uc010lnk.3 - 18 3464 c.2944G>A c.(2944-2946)Gaa>Aaa p.E982K DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.E982K|DENND2A_uc003vvw.3_Missense_Mutation_p.E982K NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA. 982 p.E982Q(2) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) GGGAGTGTTTCCAGATACTCT 0.522000 252 35 0 0 0.003214 0 0 MYO9A 4649 broad.mit.edu 37 15 72190946 72190946 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:72190946G>A uc002atl.4 - 24 4371 c.3898C>T c.(3898-3900)Cct>Tct p.P1300S MYO9A_uc010biq.3_Missense_Mutation_p.P920S|MYO9A_uc002atn.1_Missense_Mutation_p.P1281S|MYO9A_uc002atk.3_Missense_Mutation_p.P24S|MYO9A_uc002atm.1_Missense_Mutation_p.P24S NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN Homo sapiens myosin IXA (MYO9A), mRNA. 1300 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TCCTCTGAAGGAGAAATACCA 0.468000 60 24 0 0 0.002780 0 0 XIRP2 129446 broad.mit.edu 37 2 168099252 168099252 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:168099252A>G uc002udx.3 + 8 1439 c.1350A>G c.(1348-1350)gaA>gaG p.E450E XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.E275E|XIRP2_uc010fpq.3_Silent_p.E228E|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 275 P -> A (in dbSNP:rs16853305). actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GAATGACAGAAGAATTTCCTC 0.463000 42 7 0 0 0.001984 0 0 APOB 338 broad.mit.edu 37 2 21235215 21235215 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:21235215G>A uc002red.3 - 25 4653 c.4525C>T c.(4525-4527)Cct>Tct p.P1509S NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1509 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCAGTGTTAGGATCCCTCTGA 0.468000 253 143 0 0 0.003610 0 0 UGT2A1 10941 broad.mit.edu 37 4 70455222 70455222 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:70455222G>A uc011caq.2 - 6 2066 c.1950C>T c.(1948-1950)ttC>ttT p.F650F UGT2A1_uc010ihu.3_Silent_p.F484F|UGT2A1_uc003hem.4_Silent_p.F484F|UGT2A1_uc010ihs.3_Silent_p.F493F|UGT2A1_uc021xox.1_Silent_p.F449F|UGT2A1_uc010iht.3_Silent_p.F440F NM_001252274 NP_001239203 Q9Y4X1 UD2A1_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA. 484 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 AGTGGTACTGGAACCAGGTGA 0.473000 62 56 0 0 0.003610 0 0 MDN1 23195 broad.mit.edu 37 6 90411652 90411652 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:90411652G>A uc003pnn.1 - 53 8393 c.8277C>T c.(8275-8277)atC>atT p.I2759I NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 2759 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding 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) GAAGTCGGGGGATCTGGTGGA 0.428000 40 25 0 0 0.003330 0 0 FAT4 79633 broad.mit.edu 37 4 126239528 126239528 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:126239528C>T uc003ifj.4 + 0 1962 c.1962C>T c.(1960-1962)ttC>ttT p.F654F NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 654 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGCAAGCCTTCTACTCCCTGT 0.517000 29 18 0 0 0.004990 0 0 MAP2K4 6416 broad.mit.edu 37 17 11984809 11984809 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:11984809A>G uc002gnj.3 + 2 424 c.355A>G c.(355-357)Atg>Gtg p.M119V MAP2K4_uc002gnk.3_Missense_Mutation_p.M130V|MAP2K4_uc010vvi.2_Missense_Mutation_p.M1V|MAP2K4_uc010vvj.2_Intron|MIR744_uc021tqg.1_5'Flank NM_003010 NP_003001 P45985 MP2K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase 4 (MAP2K4), mRNA. 119 Protein kinase. JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.0?(10)|p.?(1) NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) TGTCAACAAAATGGTCCACAA 0.408000 """D, Mis, N""" """pancreatic, breast, colorectal""" 38 9 0 0 0.008291 0 0 CTNNBIP1 56998 broad.mit.edu 37 1 9932037 9932037 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:9932037A>G uc001aqk.1 - 3 393 c.86T>C c.(85-87)aTg>aCg p.M29T CTNNBIP1_uc001aql.1_Missense_Mutation_p.M29T NM_020248 NP_064633 Q9NSA3 CNBP1_HUMAN Homo sapiens catenin, beta interacting protein 1 (CTNNBIP1), transcript variant 1, mRNA. 29 Wnt receptor signaling pathway|anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of Wnt receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus armadillo repeat domain binding|beta-catenin binding cervix(1)|large_intestine(1)|lung(1) 3 all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) GTTTGATCCCATCTTCCGCAG 0.652000 34 9 0 0 0.008291 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140870697 140870697 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:140870697A>G uc003lla.2 + 0 1890 c.1890A>G c.(1888-1890)acA>acG p.T630T 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_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Silent_p.T630T NM_018929 NP_061752 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA. 630 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGCGCACAGCCCGGGCCT 0.602000 17 6 0 0 0.001168 0 0 MYH13 8735 broad.mit.edu 37 17 10209911 10209911 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:10209911C>T uc002gmk.1 - 36 5421 c.5331G>A c.(5329-5331)caG>caA p.Q1777Q NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 1777 muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CGCTGGTGTCCTGTTCCTTCT 0.577000 74 42 0 0 0.002522 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21487532 21487532 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:21487532G>A uc001rer.3 - 0 301 c.50C>T c.(49-51)tCc>tTc p.S17F SLCO1A2_uc010siq.2_5'UTR|SLCO1A2_uc001res.3_Missense_Mutation_p.S17F|SLCO1A2_uc010sio.2_5'UTR|SLCO1A2_uc010sip.2_5'UTR NM_021094 NP_602307 P46721 SO1A2_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA. 17 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 CTTCAACTTGGAAAGACATCT 0.348000 66 25 0 0 0.007291 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100489584 100489584 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:100489584A>G uc001tgq.3 - 6 930 c.701T>C c.(700-702)tTa>tCa p.L234S UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.L234S|UHRF1BP1L_uc001tgp.3_5'Flank NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA. 234 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 TATTAGAACTAACTTTGTTGC 0.294000 32 4 0 0 0.000248 0 0 DONSON 29980 broad.mit.edu 37 21 34951723 34951723 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr21:34951723A>G uc002ysk.3 - 8 1816 c.1496T>C c.(1495-1497)gTa>gCa p.V499A DONSON_uc002ysi.1_Missense_Mutation_p.V259A|DONSON_uc002ysj.3_Missense_Mutation_p.V132A|DONSON_uc002ysm.3_Missense_Mutation_p.V499A NM_017613 NP_060083 Q9NYP3 DONS_HUMAN Homo sapiens downstream neighbor of SON (DONSON), mRNA. 499 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 TGGATACAGTACTGCAGAGAA 0.423000 70 19 0 0 0.001523 0 0 FZD1 8321 broad.mit.edu 37 7 90895933 90895933 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:90895933C>T uc003ula.3 + 0 2151 c.1738C>T c.(1738-1740)Ccc>Tcc p.P580S NM_003505 NP_003496 Q9UP38 FZD1_HUMAN Homo sapiens frizzled family receptor 1 (FZD1), mRNA. 580 G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CTACGCTATCCCCTGCCCTCA 0.642000 55 14 0 0 0.003163 0 0 DGCR14 8220 broad.mit.edu 37 22 19125788 19125789 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr22:19125788_19125789GG>AA uc002zou.3 - 6 901_902 c.864_865CC>TT c.(862-867)atcccc>atTTcc p.P289S NM_022719 NP_073210 Q96DF8 DGC14_HUMAN Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA. 289 nervous system development catalytic step 2 spliceosome breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) GACTCCTGGGGGATCAGCTCCT 0.629000 21 6 0 0 0.004672 0 0 PKN3 29941 broad.mit.edu 37 9 131482253 131482253 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:131482253A>G uc004bvw.3 + 19 2726 c.2333A>G c.(2332-2334)tAc>tGc p.Y778C PKN3_uc010myh.3_Missense_Mutation_p.Y778C|PKN3_uc022bom.1_Non-coding_Transcript NM_013355 NP_037487 Q6P5Z2 PKN3_HUMAN Homo sapiens protein kinase N3 (PKN3), mRNA. 778 Protein kinase. signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 GACGCCCCCTACCCCGGCTTT 0.622000 75 17 0 0 0.008871 0 0 EVPL 2125 broad.mit.edu 37 17 74005598 74005598 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:74005598C>T uc010wss.1 - 21 3982 c.3754G>A c.(3754-3756)Gag>Aag p.E1252K EVPL_uc002jqi.2_Missense_Mutation_p.E1230K|EVPL_uc010wst.1_Missense_Mutation_p.E700K NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1230 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TTCTCCACCTCCTTCTCCACA 0.632000 47 27 0 0 0.005443 0 0 CELSR3 1951 broad.mit.edu 37 3 48677499 48677499 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:48677499G>A uc003cuf.1 - 35 9813 c.9813C>T c.(9811-9813)ccC>ccT p.P3271P CELSR3_uc010hkf.3_Silent_p.P463P|CELSR3_uc010hkg.3_Silent_p.P1156P|CELSR3_uc003cul.3_Silent_p.P3173P NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 3173 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGGGAGACAGGGGCAGAGGTG 0.682000 18 13 0 0 0.002450 0 0 DDX27 55661 broad.mit.edu 37 20 47851535 47851535 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:47851535A>G uc002xuh.3 + 11 1491 c.1430A>G c.(1429-1431)cAc>cGc p.H477R NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA. 477 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AAGCAGGCCCACCGCATGCAC 0.582000 33 11 0 0 0.008291 0 0 COPS3 8533 broad.mit.edu 37 17 17179480 17179480 + Splice_Site SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:17179480T>C uc002grd.3 - 2 173 c.56_splice c.e2-1 p.G19_splice COPS3_uc010vwv.2_Splice_Site|COPS3_uc010vww.2_5'UTR NM_003653 NP_001186054 Q9UNS2 CSN3_HUMAN Homo sapiens COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis) (COPS3), transcript variant 1, mRNA. 19 cullin deneddylation|response to light stimulus|signal transduction cytoplasm|signalosome protein binding NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 TCATTTGCCCTGGAAAACAGG 0.458000 40 11 0 0 0.001368 0 0 ZNF516 9658 broad.mit.edu 37 18 74153867 74153867 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr18:74153867A>G uc021ulp.1 - 2 1462 c.1144T>C c.(1144-1146)Ttc>Ctc p.F382L NM_014643 NP_055458 Q92618 ZN516_HUMAN Homo sapiens zinc finger protein 516 (ZNF516), mRNA. 382 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) TGGAGGAAGAACTGCTTGGTG 0.721000 13 3 0 0 0.004672 0 0 TRIM3 10612 broad.mit.edu 37 11 6477534 6477534 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:6477534G>A uc001mdh.3 - 6 1818 c.1422C>T c.(1420-1422)ttC>ttT p.F474F TRIM3_uc001mdi.3_Silent_p.F474F|TRIM3_uc010raj.2_Silent_p.F355F|TRIM3_uc009yfd.3_Silent_p.F474F|TRIM3_uc010rak.1_Silent_p.F474F|TRIM3_uc001mdj.2_Silent_p.F355F NM_006458 NP_006449 O75382 TRIM3_HUMAN Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA. 474 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACCAACACGGAAGACGAGCT 0.577000 24 14 0 0 0.006122 0 0 SERPINF1 5176 broad.mit.edu 37 17 1678351 1678351 + Splice_Site SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:1678351G>A uc002ftl.3 + 6 801 c.644_splice c.e6-1 p.G215_splice NM_002615 NP_002606 P36955 PEDF_HUMAN Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 (SERPINF1), mRNA. 215 cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 16 CTTCTTTCCAGGGCAGTGGGT 0.517000 53 32 0 0 0.002096 0 0 PEX14 5195 broad.mit.edu 37 1 10683172 10683172 + Nonsense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:10683172C>T uc001arn.3 + 5 502 c.481C>T c.(481-483)Cag>Tag p.Q161* PEX14_uc009vmu.1_Nonsense_Mutation_p.Q118*|PEX14_uc009vmv.3_Nonsense_Mutation_p.Q97*|PEX14_uc010oam.2_Nonsense_Mutation_p.Q97*|PEX14_uc010oan.2_Nonsense_Mutation_p.Q118*|PEX14_uc009vmw.3_Nonsense_Mutation_p.Q97* NM_004565 NP_004556 O75381 PEX14_HUMAN Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA. 161 negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport integral to membrane|nucleus|peroxisomal membrane|protein complex protein N-terminus binding|transcription corepressor activity breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 13 Ovarian(185;0.203) all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419) CAGCGTGGCCCAGACAGGTAA 0.592000 26 10 0 0 0.008291 0 0 GDF9 2661 broad.mit.edu 37 5 132197533 132197533 + Missense_Mutation SNP A C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:132197533A>C uc003kxz.1 - 1 1365 c.1113T>G c.(1111-1113)atT>atG p.I371M GDF9_uc011cxj.1_Missense_Mutation_p.I283M NM_005260 NP_005251 O60383 GDF9_HUMAN Homo sapiens growth differentiation factor 9 (GDF9), mRNA. 371 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 22 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCGGAGCCACAATCCAGTTGT 0.473000 30 32 0 0 0.002445 0 0 CD69 969 broad.mit.edu 37 12 9907776 9907776 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:9907776A>G uc001qwk.3 - 2 350 c.269T>C c.(268-270)gTt>gCt p.V90A CD69_uc010sgu.2_Missense_Mutation_p.V90A|CD69_uc010sgv.1_Missense_Mutation_p.V90A NM_001781 NP_001772 Q07108 CD69_HUMAN Homo sapiens CD69 molecule (CD69), transcript variant 1, mRNA. 90 integral to plasma membrane sugar binding|transmembrane receptor activity endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 CTGGTAGCCAACCCAGTCCTC 0.448000 120 16 0 0 0.007413 0 0 GLP1R 2740 broad.mit.edu 37 6 39033977 39033977 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:39033977C>T uc003ooj.4 + 4 467 c.407C>T c.(406-408)tCc>tTc p.S136F GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript NM_002062 NP_002053 P43220 GLP1R_HUMAN Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA. 136 SP -> WG (in Ref. 1; AAA03614). activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) CCACAGAGCTCCCCGGAGGAG 0.602000 32 6 0 0 0.001168 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192849 132192849 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:132192849G>A uc003vra.4 - 1 833 c.604C>T c.(604-606)Cgg>Tgg p.R202W PLXNA4_uc003vrc.2_Missense_Mutation_p.R202W|PLXNA4_uc003vrb.3_Missense_Mutation_p.R202W NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 202 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GTCAGTTTCCGGCTGGAGATG 0.527000 208 15 0 0 0.001523 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766203 27766203 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrX:27766203G>A uc011mjy.2 + 0 1278 c.1191G>A c.(1189-1191)agG>agA p.R397R NM_001136533 NP_001130005 Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA. central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 ATGACCAGAGGAAAATTGATA 0.393000 7 21 0 0 0.001523 0 0 UGT1A1 54658 broad.mit.edu 37 2 234622071 234622071 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:234622071C>T uc002vuw.3 + 0 434 c.434C>T c.(433-435)tCc>tTc p.S145F UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Missense_Mutation_p.S145F NM_019078 NP_061951 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA. 144 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CATGCTACTTCCTTTGATGTG 0.463000 143 61 0 0 0.003610 0 0 WDR65 149465 broad.mit.edu 37 1 43664298 43664298 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:43664298C>T uc021omk.1 + 7 1555 c.1409C>T c.(1408-1410)tCt>tTt p.S470F EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.S459F|WDR65_uc001ciq.2_Missense_Mutation_p.S470F|WDR65_uc001cip.2_Missense_Mutation_p.S470F NM_001195831 NP_001182760 Q96MR6 WDR65_HUMAN Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA. 470 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AAAGAATACTCTGTTAGAGGA 0.403000 16 24 0 0 0.004656 0 0 FEM1B 10116 broad.mit.edu 37 15 68583223 68583223 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:68583223T>C uc002arg.3 + 1 2142 c.1527T>C c.(1525-1527)ttT>ttC p.F509F FEM1B_uc002arh.3_Silent_p.F429F NM_015322 NP_056137 Q9UK73 FEM1B_HUMAN Homo sapiens fem-1 homolog b (C. elegans) (FEM1B), mRNA. 509 apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 TCTGCAGCTTTCCAAATGCAC 0.478000 153 29 0 0 0.002096 0 0 RPS27 6232 broad.mit.edu 37 1 153963239 153963239 + Splice_Site SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:153963239C>T uc001fdv.3 + 1 1 c.-33_splice c.e1-1 NM_001030 NP_001021 P42677 RS27_HUMAN Homo sapiens ribosomal protein S27 (RPS27), mRNA. cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus DNA binding|structural constituent of ribosome|zinc ion binding kidney(1) 1 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCTTTCGCTCCTTTCCGGCGG 0.537000 25 55 0 0 0.003610 0 0 HGS 9146 broad.mit.edu 37 17 79658481 79658481 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:79658481A>G uc002kbg.3 + 7 677 c.542A>G c.(541-543)cAc>cGc p.H181R HGS_uc010wus.2_Missense_Mutation_p.H181R NM_004712 NP_004703 O14964 HGS_HUMAN Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA. 181 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) TTACAGCACCACTGCCGGGCG 0.637000 60 12 0 0 0.001855 0 0 BEND4 389206 broad.mit.edu 37 4 42145831 42145831 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:42145831C>T uc003gwn.3 - 2 1248 c.668G>A c.(667-669)aGt>aAt p.S223N BEND4_uc003gwm.3_Missense_Mutation_p.S223N|BEND4_uc011byy.1_Missense_Mutation_p.S223N NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA. 223 NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 TGAGGTCTGACTGTGGACCCC 0.433000 27 4 0 0 0.000248 0 0 NCKIPSD 51517 broad.mit.edu 37 3 48719937 48719937 + Silent SNP T G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:48719937T>G uc003cun.3 - 2 424 c.330A>C c.(328-330)tcA>tcC p.S110S NCKIPSD_uc003cum.3_Silent_p.S110S|NCKIPSD_uc010hkh.2_Silent_p.S110S NM_016453 NP_057537 Q9NZQ3 SPN90_HUMAN Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA. 110 NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction intermediate filament|nucleus SH3 domain binding|cytoskeletal protein binding endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CACTGGAGGCTGAAGGGCCTC 0.567000 155 24 0 0 0.007291 0 0 MARK3 4140 broad.mit.edu 37 14 103969227 103969227 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:103969227T>C uc001ymz.4 + 17 2591 c.1925T>C c.(1924-1926)gTa>gCa p.V642A MARK3_uc001ymx.4_Missense_Mutation_p.V633A|MARK3_uc001ymw.4_Missense_Mutation_p.V618A|MARK3_uc001yna.4_Missense_Mutation_p.V602A|MARK3_uc001ymy.4_Missense_Mutation_p.V548A|MARK3_uc010awp.3_Missense_Mutation_p.V641A|MARK3_uc010tyb.2_Missense_Mutation_p.V437A|MARK3_uc010awq.3_Missense_Mutation_p.V215A|MARK3_uc001ynd.3_Missense_Mutation_p.V50A NM_001128918 NP_001122390 P27448 MARK3_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA. 642 ATP binding|protein binding|protein serine/threonine kinase activity p.I639_K641del(2) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) AGTCGCAATGTATCTGCTGAG 0.423000 33 4 0 0 0.000602 0 0 CSE1L 1434 broad.mit.edu 37 20 47695141 47695141 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:47695141T>C uc002xty.3 + 13 1598 c.1464T>C c.(1462-1464)atT>atC p.I488I CSE1L_uc010zyg.2_Silent_p.I271I|CSE1L_uc010ghx.3_Silent_p.I432I|CSE1L_uc010ghy.3_Silent_p.I137I|CSE1L_uc010zyh.2_Silent_p.I137I NM_001316 NP_001307 P55060 XPO2_HUMAN Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA. 488 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) TCAAATATATTATGATTTTTA 0.313000 90 27 0 0 0.002096 0 0 GPR84 53831 broad.mit.edu 37 12 54756709 54756709 + Missense_Mutation SNP A T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:54756709A>T uc021qyp.1 - 0 927 c.927T>A c.(925-927)gaT>gaA p.D309E GPR84_uc001sfu.3_Missense_Mutation_p.D309E NM_020370 NP_065103 Q9NQS5 GPR84_HUMAN Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA. 309 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 CCGATGAAGAATCCGGAGCTC 0.498000 96 43 0 0 0.008740 0 0 RTEL1 51750 broad.mit.edu 37 20 62326722 62326722 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:62326722A>G uc021wge.1 + 32 3711 c.3541A>G c.(3541-3543)Atc>Gtc p.I1181V RTEL1_uc002yfu.2_Missense_Mutation_p.I1181V|RTEL1_uc011abd.2_Missense_Mutation_p.I1205V|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.I958V|RTEL1_uc002yfx.1_Missense_Mutation_p.I426V|TNFRSF6B_uc002yfy.3_5'UTR|TNFRSF6B_uc002yfz.3_5'Flank NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA. 1181 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding p.I1181I(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CCAGAGCAAGATCTCGTCCTT 0.662000 114 37 0 0 0.006230 0 0 SPATA13 221178 broad.mit.edu 37 13 24823724 24823724 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr13:24823724G>A uc001upd.2 + 4 2341 c.1763G>A c.(1762-1764)cGg>cAg p.R588Q SPATA13_uc001upe.3_Intron|SPATA13_uc021rhg.1_Missense_Mutation_p.R588Q|SPATA13_uc001upg.2_5'UTR|SPATA13_uc010tcy.1_5'Flank|SPATA13_uc010tcz.2_5'Flank NM_153023 NP_694568 Q96N96 SPT13_HUMAN Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA. 0 C-terminal tail. cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration cytoplasm|filopodium|lamellipodium|ruffle membrane Rac guanyl-nucleotide exchange factor activity|protein binding breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) CCAAGGCCTCGGCCATTCTCT 0.607000 13 11 0 0 0.008291 0 0 FCGBP 8857 broad.mit.edu 37 19 40421287 40421287 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:40421287C>T uc002omp.4 - 4 2642 c.2634G>A c.(2632-2634)cgG>cgA p.R878R NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 878 VWFD 2. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGTCGAAGCGCCGGCCGTCGA 0.667000 14 4 0 0 0.000602 0 0 SLC6A2 6530 broad.mit.edu 37 16 55730157 55730157 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:55730157C>T uc021tio.1 + 7 1219 c.1168C>T c.(1168-1170)Ctg>Ttg p.L390L SLC6A2_uc002eif.3_Silent_p.L390L|SLC6A2_uc002eig.3_Silent_p.L390L|SLC6A2_uc002eii.3_Silent_p.L285L|SLC6A2_uc002eij.3_Silent_p.L104L NM_001172504 NP_001165975 P23975 SC6A2_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA. 390 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) AGTGTTCATCCTGTATCCAGA 0.517000 98 23 0 0 0.001882 0 0 EFTUD2 9343 broad.mit.edu 37 17 42959081 42959081 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:42959081T>C uc002ihn.2 - 6 763 c.502A>G c.(502-504)Act>Gct p.T168A EFTUD2_uc010wje.1_Missense_Mutation_p.T133A|EFTUD2_uc010wjf.1_Missense_Mutation_p.T158A NM_004247 NP_001136077 Q15029 U5S1_HUMAN Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA. 168 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) AGGATGTCAGTATAGCACAGC 0.453000 66 9 0 0 0.008291 0 0 ZBTB9 221504 broad.mit.edu 37 6 33423954 33423954 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:33423954A>G uc003oeq.3 + 1 1345 c.1077A>G c.(1075-1077)ggA>ggG p.G359G ZBTB9_uc021ywp.1_Silent_p.G359G NM_152735 NP_689948 Q96C00 ZBTB9_HUMAN Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA. 359 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 GGGGTGGAGGACCTGGGGGAG 0.607000 20 3 0 0 0.004672 0 0 FGD4 121512 broad.mit.edu 37 12 32777368 32777368 + Missense_Mutation SNP C G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:32777368C>G uc010ske.2 + 11 1944 c.1860C>G c.(1858-1860)gaC>gaG p.D620E FGD4_uc001rlc.3_Missense_Mutation_p.D593E|FGD4_uc001rky.3_Missense_Mutation_p.D260E|FGD4_uc001rkz.3_Missense_Mutation_p.D508E|FGD4_uc001rla.3_Missense_Mutation_p.D164E|FGD4_uc001rlb.1_Non-coding_Transcript NM_139241 NP_640334 Q96M96 FGD4_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA. 508 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) CTGCGCAAGACAAAGAAGAAT 0.353000 18 5 0 0 0.001168 0 0 SPEN 23013 broad.mit.edu 37 1 16259522 16259522 + Missense_Mutation SNP A T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:16259522A>T uc001axk.1 + 10 6991 c.6787A>T c.(6787-6789)Atg>Ttg p.M2263L SPEN_uc010obp.1_Missense_Mutation_p.M2222L NM_015001 NP_055816 Q96T58 MINT_HUMAN Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA. 2263 Interaction with MSX2 (By similarity).|RID. Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent nucleus RNA binding|nucleotide binding|protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TGAGGAAGGAATGGAGACAGA 0.572000 73 18 0 0 0.006122 0 0 ACAN 176 broad.mit.edu 37 15 89391246 89391246 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:89391246A>G uc010upo.1 + 8 2083 c.1709A>G c.(1708-1710)tAc>tGc p.Y570C ACAN_uc002bmx.3_Missense_Mutation_p.Y570C|ACAN_uc010upp.1_Missense_Mutation_p.Y570C|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 570 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) TACGATGTCTACTGCTTTGTA 0.587000 127 24 0 0 0.004656 0 0 C19orf26 255057 broad.mit.edu 37 19 1230931 1230931 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:1230931T>C uc002lrm.2 - 8 1580 c.1305A>G c.(1303-1305)ccA>ccG p.P435P NM_152769 NP_689982 Q8N350 DOS_HUMAN Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA. 260 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGTCCATGCTGGAGAGGTGG 0.716000 HNSCC(14;0.022) 44 4 0 0 0.000602 0 0 NCOA5 57727 broad.mit.edu 37 20 44708057 44708057 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:44708057T>C uc002xrd.3 - 0 535 c.7A>G c.(7-9)Acg>Gcg p.T3A NCOA5_uc002xre.3_Missense_Mutation_p.T3A NM_020967 NP_066018 Q9HCD5 NCOA5_HUMAN Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA. 3 Transcription repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus ATP binding|aminoacyl-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) GATGGAGCCGTATTCATATTT 0.443000 49 10 0 0 0.001368 0 0 TIGD5 84948 broad.mit.edu 37 8 144681413 144681413 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:144681413A>G uc003yyx.2 + 0 1340 c.1340A>G c.(1339-1341)gAc>gGc p.D447G EEF1D_uc011lki.2_5'Flank|EEF1D_uc003yyv.3_5'Flank|EEF1D_uc003yyu.3_5'Flank|EEF1D_uc011lkk.2_5'Flank|EEF1D_uc003yyt.3_5'Flank|EEF1D_uc003yyr.3_5'Flank|EEF1D_uc003yys.3_5'Flank|EEF1D_uc011lkl.2_5'Flank NM_032862 NP_116251 E7EWS2 E7EWS2_HUMAN Homo sapiens tigger transposable element derived 5 (TIGD5), mRNA. 447 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 7 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) TCCCCGCTGGACTTCATGCGC 0.672000 33 6 0 0 0.003080 0 0 SLC5A1 6523 broad.mit.edu 37 22 32479097 32479097 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr22:32479097A>G uc003amc.3 + 6 870 c.620A>G c.(619-621)cAg>cGg p.Q207R SLC5A1_uc011alz.2_Missense_Mutation_p.Q80R NM_000343 NP_000334 P13866 SC5A1_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA. 207 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 GACACCTTGCAGACGGTGATC 0.582000 39 8 0 0 0.008291 0 0 SCN7A 6332 broad.mit.edu 37 2 167328864 167328864 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:167328864G>A uc002udu.2 - 4 665 c.535C>T c.(535-537)Cca>Tca p.P179S SCN7A_uc010fpm.2_Non-coding_Transcript NM_002976 NP_002967 Q01118 SCN7A_HUMAN Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA. 179 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.D178V(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 CAGTTCCATGGATCACCGAGG 0.353000 16 8 0 0 0.004482 0 0 CHPF2 54480 broad.mit.edu 37 7 150932236 150932236 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:150932236T>C uc003wjr.1 + 1 1879 c.366T>C c.(364-366)cgT>cgC p.R122R CHPF2_uc003wjq.1_Silent_p.R114R NM_019015 NP_061888 Q9P2E5 CHPF2_HUMAN Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA. 122 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 CTGTGAACCGTACGGTGGCCC 0.642000 174 18 0 0 0.001523 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204438620 204438620 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:204438620T>C uc001haw.3 - 2 790 c.311A>G c.(310-312)aAc>aGc p.N104S PIK3C2B_uc010pqv.2_Missense_Mutation_p.N104S|PIK3C2B_uc001hax.1_Missense_Mutation_p.N104S|PIK3C2B_uc009xbd.1_Non-coding_Transcript NM_002646 NP_002637 O00750 P3C2B_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA. 104 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GGTAGAGTGGTTGGGCGGCCC 0.577000 54 11 0 0 0.001855 0 0 SLX4 84464 broad.mit.edu 37 16 3632567 3632567 + Missense_Mutation SNP G A A rs143818824 byFrequency TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:3632567G>A uc002cvp.2 - 14 5908 c.5281C>T c.(5281-5283)Cgc>Tgc p.R1761C NM_032444 NP_115820 Q8IY92 SLX4_HUMAN Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. 1761 Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 GGCTTGGAGCGGATGTAGCAC 0.652000 Direct reversal of damage 38 17 0 0 0.004007 0 0 NT5C1B-RDH14 100526794 broad.mit.edu 37 2 18768805 18768805 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:18768805C>T uc010exr.3 - 1 196 c.84G>A c.(82-84)aaG>aaA p.K28K NT5C1B-RDH14_uc002rcy.3_Silent_p.K28K|NT5C1B-RDH14_uc010yju.2_Silent_p.K28K|NT5C1B-RDH14_uc002rcz.3_Silent_p.K28K|NT5C1B-RDH14_uc010yjw.2_Silent_p.K28K|NT5C1B-RDH14_uc010yjv.2_Silent_p.K28K|NT5C1B-RDH14_uc010exs.3_Silent_p.K28K|NT5C1B-RDH14_uc002rda.3_Silent_p.K28K|NT5C1B-RDH14_uc002rdb.1_5'Flank NM_001199103 NP_001186032 Q96P26 5NT1B_HUMAN Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA. 0 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding TGTCAGATTCCTTTCTTTTTT 0.388000 86 46 0 0 0.003610 0 0 NUMB 8650 broad.mit.edu 37 14 73749086 73749086 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:73749086T>C uc001xny.1 - 10 1397 c.1077A>G c.(1075-1077)ccA>ccG p.P359P NUMB_uc010aro.1_Intron|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Silent_p.P261P|NUMB_uc010arr.1_Silent_p.P250P|NUMB_uc001xoa.1_Silent_p.P359P|NUMB_uc001xnz.1_Silent_p.P348P|NUMB_uc001xob.1_Silent_p.P348P|NUMB_uc001xod.1_Silent_p.P359P|NUMB_uc001xoc.1_Silent_p.P359P|NUMB_uc010ars.1_Silent_p.P348P|NUMB_uc010ttz.1_Silent_p.P105P NM_001005743 NP_001005743 P49757 NUMB_HUMAN Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA. 359 axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) taggagattgtggtgccacca 0.512000 47 4 0 0 0.000248 0 0 RBM15B 29890 broad.mit.edu 37 3 51431421 51431421 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:51431421A>G uc003dbd.3 + 0 2723 c.2591A>G c.(2590-2592)cAg>cGg p.Q864R NM_013286 NP_037418 Q8NDT2 RB15B_HUMAN Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA. 864 Interaction with Epstein-Barr virus BMLF1.|SPOC. 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) TTTTCCCAGCAGTACCTCCAG 0.577000 80 16 0 0 0.004990 0 0 AHNAK 79026 broad.mit.edu 37 11 62294596 62294596 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:62294596T>C uc001ntl.3 - 4 7593 c.7293A>G c.(7291-7293)ggA>ggG p.G2431G AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 2431 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGCCCTCTGGTCCCTCAATGT 0.463000 73 18 0 0 0.004990 0 0 ZFYVE19 84936 broad.mit.edu 37 15 41106354 41106354 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:41106354A>G uc001zmt.1 + 10 1860 c.1346A>G c.(1345-1347)cAt>cGt p.H449R ZFYVE19_uc001zmu.1_Missense_Mutation_p.H381R|ZFYVE19_uc001zmv.1_Missense_Mutation_p.H274R NM_001077268 NP_001070736 Q96K21 ZFY19_HUMAN Homo sapiens zinc finger, FYVE domain containing 19 (ZFYVE19), mRNA. 449 zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164) AGAGAGGGCCATGATGCCTTT 0.582000 29 14 0 0 0.003163 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809104 18809104 + Missense_Mutation SNP C A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:18809104C>A uc001bax.3 + 0 1681 c.1629C>A c.(1627-1629)ttC>ttA p.F543L KLHDC7A_uc009vpg.3_Missense_Mutation_p.F325L NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA. 543 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ATTATCTCTTCGTGGTGTCCG 0.667000 31 28 2.12542e-12 3.73493e-12 0.006320 1 0 HEPACAM2 253012 broad.mit.edu 37 7 92826820 92826820 + Nonsense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:92826820C>T uc011khy.2 - 5 1208 c.1185G>A c.(1183-1185)tgG>tgA p.W395* HEPACAM2_uc003uml.3_Nonsense_Mutation_p.W360*|HEPACAM2_uc010lff.3_Nonsense_Mutation_p.W360*|HEPACAM2_uc003umm.3_Nonsense_Mutation_p.W372* NM_198151 NP_937794 A8MVW5 HECA2_HUMAN Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA. 372 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 GATATTTTTTCCATAGGAAGA 0.303000 120 21 0 0 0.001882 0 0 STK11 6794 broad.mit.edu 37 19 1220689 1220689 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:1220689T>C uc002lrl.1 + 4 1822 c.707T>C c.(706-708)gTg>gCg p.V236A NM_000455 NP_000446 Q15831 STK11_HUMAN Homo sapiens serine/threonine kinase 11 (STK11), mRNA. 236 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.K235*(1)|p.V236fs*30(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GGCTTCAAGGTGGACATCTGG 0.701000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 23 9 0 0 0.006214 0 0 C14orf109 26175 broad.mit.edu 37 14 93652910 93652910 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:93652910T>C uc001ybk.4 + 1 388 c.290T>C c.(289-291)gTg>gCg p.V97A MOAP1_uc001ybj.3_5'Flank|MOAP1_uc021saw.1_5'Flank|C14orf109_uc010auo.3_Missense_Mutation_p.V135A|C14orf109_uc021sax.1_Missense_Mutation_p.V97A NM_015676 NP_056491 Q8N6I4 CN109_HUMAN Homo sapiens chromosome 14 open reading frame 109 (C14orf109), transcript variant 2, mRNA. 129 integral to membrane kidney(1) 1 all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488) Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202) CCCAAAACAGTGGGCTACTGT 0.423000 131 25 0 0 0.006320 0 0 HLTF 6596 broad.mit.edu 37 3 148756980 148756980 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:148756980G>A uc003ewq.1 - 22 2870 c.2652C>T c.(2650-2652)tcC>tcT p.S884S HLTF_uc003ewr.1_Silent_p.S884S|HLTF_uc003ews.1_Silent_p.S883S|HLTF_uc010hve.1_Silent_p.S883S NM_139048 NP_620636 Q14527 HLTF_HUMAN Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA. 884 Helicase C-terminal. chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TTTGGGCCATGGAACCATCCA 0.363000 32 12 0 0 0.000978 0 0 C1orf112 55732 broad.mit.edu 37 1 169796270 169796270 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:169796270A>G uc001ggq.3 + 10 1627 c.927A>G c.(925-927)acA>acG p.T309T C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggp.3_Silent_p.T309T|C1orf112_uc009wvt.3_5'UTR|C1orf112_uc010plu.1_Silent_p.T280T|C1orf112_uc009wvu.1_Silent_p.T185T|C1orf112_uc001ggr.3_Silent_p.T174T|C1orf112_uc010plv.2_Silent_p.T251T NM_018186 NP_060656 Q9NSG2 CA112_HUMAN Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA. 309 breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1) 34 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCCTAGTGACACTGGATCCAC 0.403000 156 10 0 0 0.000978 0 0 BTBD6 90135 broad.mit.edu 37 14 105716494 105716494 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:105716494T>C uc010tyq.2 + 4 1051 c.943T>C c.(943-945)Tac>Cac p.Y315H BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc001yqp.2_Intron|BRF1_uc010axg.1_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank NM_033271 NP_150374 Q96KE9 BTBD6_HUMAN Homo sapiens BTB (POZ) domain containing 6 (BTBD6), mRNA. 315 cytoplasmic mRNA processing body endometrium(1)|lung(3) 4 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391) Epithelial(152;0.18) CTTCCTGTGGTACACGGCCAC 0.607000 89 18 0 0 0.008871 0 0 RREB1 6239 broad.mit.edu 37 6 7231322 7231322 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:7231322C>T uc003mxb.3 + 9 3482 c.2990C>T c.(2989-2991)cCg>cTg p.P997L RREB1_uc021yky.1_Missense_Mutation_p.P997L|RREB1_uc003mxc.3_Missense_Mutation_p.P997L|RREB1_uc010jnx.3_Missense_Mutation_p.P997L|RREB1_uc021ykz.1_Missense_Mutation_p.P997L|RREB1_uc021yla.1_Intron NM_001003699 NP_001003699 Q92766 RREB1_HUMAN Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA. 997 Pro-rich. Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GCCCCTGCTCCGGCGGCCACC 0.687000 19 9 0 0 0.008291 0 0 PPP1R10 5514 broad.mit.edu 37 6 30571908 30571908 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:30571908A>G uc003nqn.1 - 13 1937 c.1385T>C c.(1384-1386)gTg>gCg p.V462A PPP1R10_uc010jsc.1_Missense_Mutation_p.V116A NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA. 462 Interaction with WDR82 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 CCGGGGGCACACCCAGGGCAC 0.577000 177 23 0 0 0.007291 0 0 MINK1 50488 broad.mit.edu 37 17 4789488 4789488 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:4789488G>A uc010vsl.2 + 8 1012 c.768G>A c.(766-768)aaG>aaA p.K256K MINK1_uc010vsk.2_Silent_p.K256K|MINK1_uc010vsm.2_Silent_p.K256K|MINK1_uc010vsn.2_Silent_p.K256K|MINK1_uc010vso.2_Silent_p.K201K|MINK1_uc010vsp.2_5'UTR NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA. 256 Protein kinase. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 TCAAGTCCAAGAAGTGGTAGG 0.592000 37 20 0 0 0.002299 0 0 ULBP1 80329 broad.mit.edu 37 6 150290481 150290481 + Missense_Mutation SNP A T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:150290481A>T uc003qnp.3 + 2 653 c.610A>T c.(610-612)Atg>Ttg p.M204L NM_025218 NP_079494 Q9BZM6 N2DL1_HUMAN Homo sapiens UL16 binding protein 1 (ULBP1), mRNA. 204 MHC class I alpha-2 like. antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response MHC class I protein complex|anchored to membrane|endoplasmic reticulum MHC class I receptor activity large_intestine(3)|lung(5)|pancreas(1)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.14e-11) CTGGGAACAAATGCTGGATCC 0.453000 34 30 0 0 0.003271 0 0 LOXL3 84695 broad.mit.edu 37 2 74763910 74763910 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:74763910T>C uc002smp.1 - 4 910 c.838A>G c.(838-840)Agc>Ggc p.S280G LOXL3_uc002smo.1_Intron|LOXL3_uc010ffm.1_Missense_Mutation_p.S280G|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron NM_032603 NP_115992 P58215 LOXL3_HUMAN Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA. 280 SRCR 2. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 GGCACACAGCTCACCACTGCA 0.627000 97 16 0 0 0.004007 0 0 SNRNP200 23020 broad.mit.edu 37 2 96944664 96944664 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:96944664A>G uc002svu.3 - 36 5338 c.5206T>C c.(5206-5208)Ttc>Ctc p.F1736L SNRNP200_uc002svt.3_Missense_Mutation_p.F346L|SNRNP200_uc010yuj.2_Non-coding_Transcript NM_014014 NP_054733 O75643 U520_HUMAN Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA. 1736 Helicase C-terminal 2. F -> L (in a colorectal cancer sample; somatic mutation). U5 snRNP|catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.F1736L(1) breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 TCAGCATTGAAGTGGTCATGC 0.488000 83 20 0 0 0.003330 0 0 TCF25 22980 broad.mit.edu 37 16 89977638 89977638 + Missense_Mutation SNP T G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:89977638T>G uc002fpb.2 + 17 2105 c.2023T>G c.(2023-2025)Tgg>Ggg p.W675G TCF25_uc002fpc.2_3'UTR|BC160930_uc010ciy.1_5'Flank NM_014972 NP_055787 Q9BQ70 TCF25_HUMAN Homo sapiens transcription factor 25 (basic helix-loop-helix) (TCF25), mRNA. 675 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) GGAGGGGGAGTGGGACTGAGC 0.607000 39 13 0 0 0.002450 0 0 STK4 6789 broad.mit.edu 37 20 43615861 43615861 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:43615861T>C uc002xnb.3 + 4 539 c.449T>C c.(448-450)aTc>aCc p.I150T STK4_uc010ggx.3_Missense_Mutation_p.I150T|STK4_uc010ggy.3_Intron|STK4_uc010ggw.1_Missense_Mutation_p.I150T NM_006282 NP_006273 Q13043 STK4_HUMAN Homo sapiens serine/threonine kinase 4 (STK4), mRNA. 150 Protein kinase. apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Myeloproliferative disorder(115;0.0122) CACCGAGATATCAAGGCAGGA 0.313000 93 14 0 0 0.001855 0 0 PLCG2 5336 broad.mit.edu 37 16 81969853 81969853 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:81969853C>T uc002fgt.3 + 26 3100 c.2922C>T c.(2920-2922)ctC>ctT p.L974L NM_002661 NP_002652 P16885 PLCG2_HUMAN Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA. 974 PI-PLC Y-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.D973N(2) NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CCGTCGACCTCCTGAAGTACA 0.527000 31 7 0 0 0.003080 0 0 NME9 347736 broad.mit.edu 37 3 138037005 138037006 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:138037005_138037006GG>AA uc003esg.3 - 3 279_280 c.251_252CC>TT c.(250-252)acc>aTT p.T84I NME9_uc003esd.1_Non-coding_Transcript|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Missense_Mutation_p.T62I NM_178130 NP_835231 Q86XW9 TXND6_HUMAN Homo sapiens NME gene family member 9 (NME9), mRNA. 84 Thioredoxin. CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity p.T62N(1) AAAACAGAAAGGTTGGCTCGCA 0.426000 245 96 0 0 0.004672 0 0 CD163 9332 broad.mit.edu 37 12 7647853 7647853 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:7647853C>T uc001qsz.3 - 5 1372 c.1244G>A c.(1243-1245)gGa>gAa p.G415E CD163_uc001qta.3_Missense_Mutation_p.G415E|CD163_uc009zfw.2_Missense_Mutation_p.G415E NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 415 SRCR 4. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AGATCCACATCCCAGCTGCCT 0.468000 76 38 0 0 0.006999 0 0 SGCG 6445 broad.mit.edu 37 13 23808834 23808834 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr13:23808834G>A uc001uom.2 + 2 435 c.280G>A c.(280-282)Gaa>Aaa p.E94K SGCG_uc009zzv.2_Missense_Mutation_p.E94K|SGCG_uc009zzw.2_Missense_Mutation_p.E94K NM_000231 NP_000222 Q13326 SGCG_HUMAN Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA. 94 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) GTATGCCAAAGAAATACACTC 0.333000 80 34 0 0 0.004289 0 0 VIL1 7429 broad.mit.edu 37 2 219301904 219301904 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:219301904A>G uc002vib.3 + 15 2051 c.2029A>G c.(2029-2031)Act>Gct p.T677A VIL1_uc010zke.2_Missense_Mutation_p.T366A|VIL1_uc002via.3_Missense_Mutation_p.T677A NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 677 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGCAGCAACCACTGCACAGGA 0.577000 67 21 0 0 0.002299 0 0 PRSS45 377047 broad.mit.edu 37 3 46784478 46784478 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:46784478G>A uc010hjl.3 - 2 413 c.378C>T c.(376-378)tcC>tcT p.S126S PRSS50_uc021wxe.1_Intron|PRSS50_uc011bam.2_Non-coding_Transcript NM_199183 NP_954652 Q7RTY3 PRS45_HUMAN Homo sapiens protease, serine, 45 (PRSS45), mRNA. 158 Peptidase S1. proteolysis serine-type endopeptidase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 GGGGGAAGAAGGACTTCTTGT 0.532000 35 14 0 0 0.001855 0 0 ZNF831 128611 broad.mit.edu 37 20 57828170 57828170 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:57828170G>A uc002yan.3 + 3 4165 c.4165G>A c.(4165-4167)Gaa>Aaa p.E1389K NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1389 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AATTGTCAGGGAAATGGACAA 0.463000 99 49 0 0 0.003610 0 0 PLCL2 23228 broad.mit.edu 37 3 17052779 17052779 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:17052779C>T uc011awc.2 + 2 2013 c.1917C>T c.(1915-1917)tcC>tcT p.S639S PLCL2_uc011awd.2_Silent_p.S521S NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 647 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 AAGTCTGTTCCTTTAATGAAG 0.408000 99 32 0 0 0.008740 0 0 FOLH1 2346 broad.mit.edu 37 11 49179526 49179526 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:49179526G>A uc001ngy.3 - 13 1771 c.1510C>T c.(1510-1512)Cca>Tca p.P504S FOLH1_uc009yly.3_Missense_Mutation_p.P489S|FOLH1_uc009ylz.3_Missense_Mutation_p.P489S|FOLH1_uc001ngz.3_Missense_Mutation_p.P504S|FOLH1_uc009yma.3_Missense_Mutation_p.P196S NM_004476 NP_001180402 Q04609 FOLH1_HUMAN Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA. 504 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) CTGAACTCTGGGGAAGGACTT 0.353000 33 26 0 0 0.002445 0 0 PRPSAP2 5636 broad.mit.edu 37 17 18769241 18769241 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:18769241T>C uc002gup.2 + 2 417 c.95T>C c.(94-96)aTg>aCg p.M32T PRPSAP2_uc002guo.2_5'UTR|PRPSAP2_uc010vyi.2_Missense_Mutation_p.M32T|PRPSAP2_uc010vyj.2_5'UTR|PRPSAP2_uc010vyk.2_Missense_Mutation_p.M32T NM_002767 NP_002758 O60256 KPRB_HUMAN Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 2 (PRPSAP2), transcript variant 1, mRNA. 32 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 TCATCATGTATGGAGCTATCA 0.328000 23 6 0 0 0.001168 0 0 GCSHP3 100329109 broad.mit.edu 37 2 206980946 206980946 + RNA SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:206980946G>A uc002vbc.2 - 0 c.351C>T Homo sapiens glycine cleavage system protein H (aminomethyl carrier) pseudogene (LOC100329109), non-coding RNA. TTCATAACGAGATTTGTTTAC 0.368000 51 28 0 0 0.005443 0 0 SDCCAG3 10807 broad.mit.edu 37 9 139301687 139301687 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:139301687A>G uc004chi.3 - 4 934 c.729T>C c.(727-729)tcT>tcC p.S243S SDCCAG3_uc004chj.3_Silent_p.S220S|SDCCAG3_uc004chk.3_Silent_p.S170S NM_001039707 NP_001034796 Q96C92 SDCG3_HUMAN Homo sapiens serologically defined colon cancer antigen 3 (SDCCAG3), transcript variant 1, mRNA. 243 cytoplasm NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) TCCCTGCCGGAGAGGCCGGAG 0.597000 23 5 0 0 0.000602 0 0 LIMCH1 22998 broad.mit.edu 37 4 41615515 41615515 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:41615515T>C uc003gvz.4 + 4 459 c.42T>C c.(40-42)agT>agC p.S14S LIMCH1_uc003gvt.1_Silent_p.S14S|LIMCH1_uc003gwe.4_Silent_p.S173S|LIMCH1_uc003gvu.4_Silent_p.S173S|LIMCH1_uc003gvv.4_Silent_p.S173S|LIMCH1_uc003gvw.4_Silent_p.S173S|LIMCH1_uc003gvx.4_Silent_p.S173S|LIMCH1_uc003gvy.4_Silent_p.S14S|LIMCH1_uc003gwa.4_Silent_p.S14S|LIMCH1_uc011byu.2_Silent_p.S19S|LIMCH1_uc003gwc.4_Silent_p.S19S|LIMCH1_uc003gwd.4_Silent_p.S19S|LIMCH1_uc011byv.2_5'UTR|LIMCH1_uc003gwb.1_Silent_p.S21S NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA. 173 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 CTAAACGCAGTATCCGAGACA 0.493000 49 7 0 0 0.001984 0 0 YTHDF1 54915 broad.mit.edu 37 20 61833649 61833649 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:61833649A>G uc002yeh.3 - 3 1937 c.1643T>C c.(1642-1644)gTg>gCg p.V548A YTHDF1_uc011aaq.2_Missense_Mutation_p.V498A NM_017798 NP_060268 Q9BYJ9 YTHD1_HUMAN Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA. 548 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 CTTGCGCACCACCTCCTCCTC 0.557000 57 6 0 0 0.006214 0 0 IL18RAP 8807 broad.mit.edu 37 2 103040432 103040432 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:103040432G>A uc002tbx.3 + 3 716 c.232G>A c.(232-234)Gac>Aac p.D78N IL18RAP_uc010fiz.3_Intron NM_003853 NP_003844 O95256 I18RA_HUMAN Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA. 78 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 GGGTAGTAACGACCTATCTGA 0.438000 32 18 0 0 0.006122 0 0 ACPL2 92370 broad.mit.edu 37 3 141011642 141011642 + Silent SNP C T T rs145988315 byFrequency TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:141011642C>T uc003etu.3 + 7 1337 c.1038C>T c.(1036-1038)ctC>ctT p.L346L ACPL2_uc003etv.3_Silent_p.L346L|ACPL2_uc011bna.2_Silent_p.L308L|ACPL2_uc011bnb.2_Silent_p.L329L NM_152282 NP_689495 Q8TE99 ACPL2_HUMAN Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA. 346 extracellular region acid phosphatase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 GGTATTCTCTCCTGGGTGCCC 0.522000 70 29 0 0 0.001786 0 0 GPRC6A 222545 broad.mit.edu 37 6 117121776 117121776 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:117121776C>T uc003pxj.1 - 3 1541 c.1519G>A c.(1519-1521)Gaa>Aaa p.E507K GPRC6A_uc003pxk.1_Missense_Mutation_p.E332K|GPRC6A_uc003pxl.1_Intron NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 507 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TTTTTTGTTTCCTGATCTGGG 0.423000 40 32 0 0 0.004289 0 0 PRAMEF22 653606 broad.mit.edu 37 1 13036565 13036565 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:13036565G>A uc009vnq.1 + 1 637 c.637G>A c.(637-639)Gaa>Aaa p.E213K PRAMEF6_uc001aur.2_Intron NM_001100631 NP_001094101 A3QJZ6 PRA22_HUMAN Homo sapiens PRAME family member 22 (PRAMEF22), mRNA. 213 kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 CCAAGTGTTGGAAATTTGGAA 0.423000 58 12 0 0 0.007413 0 0 REXO1 57455 broad.mit.edu 37 19 1828589 1828589 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:1828589G>A uc002lua.4 - 1 294 c.199C>T c.(199-201)Ccc>Tcc p.P67S REXO1_uc010dsr.1_Missense_Mutation_p.P21S NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA. 67 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|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) CTCTGCGCGGGGGGCTTGGGC 0.682000 20 6 0 0 0.001984 0 0 FNDC1 84624 broad.mit.edu 37 6 159650965 159650965 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:159650965C>T uc010kjv.3 + 9 1499 c.1299C>T c.(1297-1299)ttC>ttT p.F433F FNDC1_uc010kjw.1_Intron NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA. 433 Fibronectin type-III 4. extracellular region p.F433F(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GCTATCTTTTCAAAATCCGGG 0.527000 75 94 0 0 0.003610 0 0 PLEC 5339 broad.mit.edu 37 8 145007491 145007491 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:145007491A>G uc003zaf.1 - 12 1873 c.1703T>C c.(1702-1704)gTg>gCg p.V568A PLEC_uc003zab.1_Missense_Mutation_p.V431A|PLEC_uc003zac.1_Missense_Mutation_p.V435A|PLEC_uc003zad.2_Missense_Mutation_p.V431A|PLEC_uc003zae.1_Missense_Mutation_p.V399A|PLEC_uc003zag.1_Missense_Mutation_p.V409A|PLEC_uc003zah.2_Missense_Mutation_p.V417A|PLEC_uc003zaj.2_Missense_Mutation_p.V458A NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 568 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCGCTGTGGCACTTTGCCTGC 0.642000 76 14 0 0 0.004990 0 0 C3orf20 84077 broad.mit.edu 37 3 14744696 14744696 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:14744696C>T uc003byy.3 + 5 1257 c.805C>T c.(805-807)Cct>Tct p.P269S C3orf20_uc003byz.3_Missense_Mutation_p.P147S|C3orf20_uc003bza.3_Missense_Mutation_p.P147S|C3orf20_uc003byx.2_Missense_Mutation_p.P269S NM_032137 NP_001171887 Q8ND61 CC020_HUMAN Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA. 269 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 AGTGGGAACCCCTGCCAACAG 0.592000 132 42 0 0 0.007835 0 0 NUP210L 91181 broad.mit.edu 37 1 154067420 154067420 + Missense_Mutation SNP T G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:154067420T>G uc001fdw.3 - 14 2250 c.2178A>C c.(2176-2178)ttA>ttC p.L726F NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.L726F NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 726 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CTTGTTCCCCTAAATCCAGGC 0.393000 27 15 0 0 0.006122 0 0 TTI1 9675 broad.mit.edu 37 20 36641607 36641607 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:36641607A>G uc002xhl.3 - 2 821 c.612T>C c.(610-612)gaT>gaC p.D204D TTI1_uc002xhm.3_Silent_p.D204D NM_014657 NP_055472 O43156 TTI1_HUMAN Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA. 204 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 AGGCAAACAAATCCCCCAGCT 0.423000 73 12 0 0 0.002450 0 0 TOP2B 7155 broad.mit.edu 37 3 25661495 25661495 + Nonsense_Mutation SNP A T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:25661495A>T uc011awn.1 - 22 2964 c.2921T>A c.(2920-2922)tTa>tAa p.L974* TOP2B_uc003cdj.2_Nonsense_Mutation_p.L969*|TOP2B_uc021wug.1_Nonsense_Mutation_p.L969*|TOP2B_uc011awm.1_5'UTR NM_001068 NP_001059 Q02880 TOP2B_HUMAN Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA. 974 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 ATCAGAAATTAATGCTGGTGT 0.323000 15 5 0 0 0.000602 0 0 SLFN12 55106 broad.mit.edu 37 17 33749398 33749398 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:33749398C>T uc002hji.4 - 1 1027 c.650G>A c.(649-651)cGa>cAa p.R217Q SLFN12_uc002hjj.4_Missense_Mutation_p.R217Q|SLFN12_uc010cts.3_Missense_Mutation_p.R217Q NM_018042 NP_060512 Q8IYM2 SLN12_HUMAN Homo sapiens schlafen family member 12 (SLFN12), mRNA. 217 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTCTTTAATTCGTTGTAACAA 0.303000 85 42 0 0 0.003214 0 0 RECK 8434 broad.mit.edu 37 9 36083436 36083436 + Missense_Mutation SNP G C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:36083436G>C uc003zyv.3 + 7 600 c.514G>C c.(514-516)Gac>Cac p.D172H RECK_uc003zyu.4_Missense_Mutation_p.D172H|RECK_uc003zyw.3_Missense_Mutation_p.D44H|RECK_uc003zyx.3_Non-coding_Transcript NM_021111 NP_066934 O95980 RECK_HUMAN Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA. 172 5 X Knot repeats. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) TTTTCGAACAGACTCTTCTCC 0.398000 132 15 0 0 0.003163 0 0 A2ML1 144568 broad.mit.edu 37 12 8990163 8990163 + Splice_Site SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:8990163G>A uc001quz.4 + 8 953 c.855_splice c.e8+1 p.Q285_splice NM_144670 NP_653271 B3KVV6 B3KVV6_HUMAN Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA. 129 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 CTCTGGACAGGTGAGTAAATG 0.542000 40 5 0 0 0.000602 0 0 VNN2 8875 broad.mit.edu 37 6 133072294 133072294 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:133072294T>C uc003qdt.3 - 4 1201 c.1190A>G c.(1189-1191)gAg>gGg p.E397G VNN2_uc003qds.3_Missense_Mutation_p.E106G|VNN2_uc010kgb.3_Intron|VNN2_uc003qdv.3_Missense_Mutation_p.E344G NM_004665 NP_004656 O95498 VNN2_HUMAN Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA. 397 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CTGCCAGTACTCTCTTCTCCT 0.373000 83 6 0 0 0.004482 0 0 NUP85 79902 broad.mit.edu 37 17 73229030 73229030 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:73229030A>G uc002jng.1 + 14 1741 c.1481A>G c.(1480-1482)aAg>aGg p.K494R NUP85_uc010wrv.1_Missense_Mutation_p.K448R|NUP85_uc002jnh.1_Missense_Mutation_p.K97R NM_024844 NP_079120 Q9BW27 NUP85_HUMAN Homo sapiens nucleoporin 85kDa (NUP85), mRNA. 494 carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|condensed chromosome kinetochore|cytosol|nuclear membrane|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) ATCCGTGCTAAGGATGCCGCC 0.577000 95 19 0 0 0.008871 0 0 RRAGC 64121 broad.mit.edu 37 1 39322586 39322586 + Missense_Mutation SNP C G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:39322586C>G uc001ccq.2 - 1 428 c.406G>C c.(406-408)Gga>Cga p.G136R RRAGC_uc010oim.1_Missense_Mutation_p.G102R|RRAGC_uc001ccr.2_Missense_Mutation_p.G58R NM_022157 NP_071440 Q9HB90 RRAGC_HUMAN Homo sapiens Ras-related GTP binding C (RRAGC), mRNA. 136 RNA splicing|apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction|transcription, DNA-dependent lysosome|nucleus GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) GCTCCTGTTCCCCTGAAGATC 0.408000 68 28 0 0 0.008361 0 0 FANCB 2187 broad.mit.edu 37 X 14871185 14871185 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrX:14871185A>G uc004cwg.1 - 5 1570 c.1302T>C c.(1300-1302)gaT>gaC p.D434D FANCB_uc004cwh.1_Silent_p.D434D NM_001018113 NP_689846 Q8NB91 FANCB_HUMAN Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA. 434 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) ACGTATTATCATCTTTTCCTT 0.289000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 65 5 0 0 0.001984 0 0 CDCA7 83879 broad.mit.edu 37 2 174230312 174230312 + Missense_Mutation SNP C G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:174230312C>G uc002uic.1 + 6 1158 c.1027C>G c.(1027-1029)Cgt>Ggt p.R343G CDCA7_uc002uid.1_Missense_Mutation_p.R264G|CDCA7_uc010zej.1_Missense_Mutation_p.R299G|CDCA7_uc010zek.1_Missense_Mutation_p.R222G NM_031942 NP_114148 Q9BWT1 CDCA7_HUMAN Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA. 264 Mediates transcriptional activity. 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) GATATATAACCGTTCACTGGT 0.468000 42 4 0 0 0.000602 0 0 TLR5 7100 broad.mit.edu 37 1 223286155 223286155 + Silent SNP C T T rs148506161 byFrequency TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:223286155C>T uc021pjl.1 - 0 219 c.219G>A c.(217-219)caG>caA p.Q73Q TLR5_uc001hnv.2_Silent_p.Q73Q|TLR5_uc001hnw.2_Silent_p.Q73Q NM_003268 NP_003259 O60602 TLR5_HUMAN Homo sapiens toll-like receptor 5 (TLR5), mRNA. 73 MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) GCTCCAGCAGCTGCAGCTGTT 0.532000 88 38 0 0 0.005524 0 0 NUCKS1 64710 broad.mit.edu 37 1 205688709 205688709 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:205688709A>G uc001hdb.3 - 5 749 c.478T>C c.(478-480)Tcc>Ccc p.S160P NM_022731 NP_073568 Q9H1E3 NUCKS_HUMAN Homo sapiens nuclear casein kinase and cyclin-dependent kinase substrate 1 (NUCKS1), mRNA. 160 Lys-rich. nucleus endometrium(4)|large_intestine(1)|lung(9) 14 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) TCAGGTTTGGACTTCTTAACC 0.353000 145 14 0 0 0.008871 0 0 MAMDC4 158056 broad.mit.edu 37 9 139751991 139751991 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:139751991A>G uc004cjs.3 + 17 2329 c.2279A>G c.(2278-2280)cAt>cGt p.H760R MAMDC4_uc011mej.2_Missense_Mutation_p.H97R NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN Homo sapiens MAM domain containing 4 (MAMDC4), mRNA. 839 MAM 4. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) GCCTCGGGCCATGCTGCCTGG 0.667000 42 5 0 0 0.000602 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618832 77618832 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:77618832G>A uc003yau.2 + 1 2896 c.2509G>A c.(2509-2511)Gaa>Aaa p.E837K ZFHX4_uc003yat.1_Missense_Mutation_p.E837K|ZFHX4_uc003yaw.1_Missense_Mutation_p.E837K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 837 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) AATGAAGCTGGAAAACCCTGC 0.552000 HNSCC(33;0.089) 12 3 0 0 0.004672 0 0 VAV2 7410 broad.mit.edu 37 9 136654406 136654406 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:136654406G>A uc004ces.3 - 13 1294 c.1248C>T c.(1246-1248)tcC>tcT p.S416S VAV2_uc004cer.3_Silent_p.S411S|VAV2_uc004cet.1_5'UTR NM_001134398 NP_001127870 P52735 VAV2_HUMAN Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA. 416 PH. 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) GGTTGACTATGGACCGGACTT 0.617000 119 46 0 0 0.003610 0 0 TRIO 7204 broad.mit.edu 37 5 14271002 14271002 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:14271002C>T uc003jff.3 + 1 232 c.226C>T c.(226-228)Ctt>Ttt p.L76F TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.L27F NM_007118 NP_009049 O75962 TRIO_HUMAN Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA. 76 CRAL-TRIO. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) AGTTGCATACCTTTCAGGTAA 0.343000 32 17 0 0 0.007413 0 0 PTPRB 5787 broad.mit.edu 37 12 70928401 70928401 + Missense_Mutation SNP G C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:70928401G>C uc001swb.4 - 28 5611 c.5581C>G c.(5581-5583)Cgc>Ggc p.R1861G BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Missense_Mutation_p.R1771G|PTPRB_uc010stp.2_Missense_Mutation_p.R1771G|PTPRB_uc001swc.4_Missense_Mutation_p.R2079G|PTPRB_uc001swa.4_Missense_Mutation_p.R1991G NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1861 Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGAAAGTGGCGGATGAGTCTG 0.493000 15 8 0 0 0.004482 0 0 DDX24 57062 broad.mit.edu 37 14 94526554 94526554 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:94526554T>C uc001ycj.3 - 4 1902 c.1803A>G c.(1801-1803)aaA>aaG p.K601K DDX24_uc010twq.2_Silent_p.K558K|DDX24_uc010twr.2_Silent_p.K351K NM_020414 NP_065147 Q9GZR7 DDX24_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA. 601 Helicase C-terminal. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CAGAGAGGCGTTTGATGCAGG 0.502000 43 20 0 0 0.001523 0 0 CALCOCO2 10241 broad.mit.edu 37 17 46940288 46940288 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:46940288A>G uc010wlr.2 + 13 1413 c.1334A>G c.(1333-1335)aAt>aGt p.N445S CALCOCO2_uc010wlq.2_Missense_Mutation_p.N349S|CALCOCO2_uc010wls.2_Missense_Mutation_p.N379S|CALCOCO2_uc002iof.3_Missense_Mutation_p.N421S|CALCOCO2_uc010wlp.2_Missense_Mutation_p.N442S NM_005831 NP_005822 Q13137 CACO2_HUMAN Homo sapiens calcium binding and coiled-coil domain 2 (CALCOCO2), mRNA. 421 Interaction with MYO6. response to interferon-gamma|viral reproduction Golgi apparatus|cytoskeleton|nucleus|perinuclear region of cytoplasm|soluble fraction protein homodimerization activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 15 CTTTGTTTCAATTGTCCAATT 0.463000 59 16 0 0 0.004007 0 0 PSG8 440533 broad.mit.edu 37 19 43269725 43269725 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:43269725G>A uc002ouo.2 - 0 107 c.9C>T c.(7-9)ctC>ctT p.L3L PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Silent_p.L3L|PSG8_uc010ein.3_Silent_p.L3L|PSG3_uc002oun.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA. 3 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GGGCTGAGAGGAGCCCCATGG 0.602000 40 20 0 0 0.004656 0 0 TSN 7247 broad.mit.edu 37 2 122519010 122519010 + Missense_Mutation SNP T G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:122519010T>G uc002tnl.3 + 3 518 c.283T>G c.(283-285)Ttg>Gtg p.L95V TSN_uc002tnm.3_Missense_Mutation_p.L48V|TSN_uc010yze.2_Missense_Mutation_p.L95V|TSN_uc010flt.3_Intron NM_004622 NP_004613 Q15631 TSN_HUMAN Homo sapiens translin (TSN), mRNA. 95 DNA recombination cytoplasm|nucleus sequence-specific DNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1) 12 Ovarian(717;0.0563)|Prostate(154;0.116) GAGGTTTGTGTTGCAGCGCTT 0.423000 120 29 0 0 0.002445 0 0 ABCA6 23460 broad.mit.edu 37 17 67079155 67079155 + Splice_Site SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:67079155C>T uc002jhw.1 - 36 4651 c.4476_splice c.e36-1 p.R1492_splice NM_080284 NP_525023 Q8N139 ABCA6_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA. 1492 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) GCCAATGCATCTATGGGCAAG 0.358000 195 73 0 0 0.003610 0 0 NOS1 4842 broad.mit.edu 37 12 117660537 117660537 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:117660537C>T uc001twn.2 - 26 4771 c.4060G>A c.(4060-4062)Gag>Aag p.E1354K NOS1_uc021ren.1_Missense_Mutation_p.E984K|NOS1_uc021reo.1_Missense_Mutation_p.E984K|NOS1_uc001twm.2_Missense_Mutation_p.E1320K NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 1320 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.E1320K(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TTGTCTGGCTCCCGGGAGTAA 0.572000 97 50 0 0 0.003610 0 0 DCC 1630 broad.mit.edu 37 18 50278479 50278479 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr18:50278479C>T uc002lfe.2 + 1 763 c.147C>T c.(145-147)gcC>gcT p.A49A DCC_uc010xdr.1_5'UTR NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 49 Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.D48H(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CTTCTGATGCCGTCACAATGC 0.483000 18 15 0 0 0.003163 0 0 EFEMP1 2202 broad.mit.edu 37 2 56145187 56145187 + Splice_Site SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:56145187C>T uc002rzi.3 - 5 632 c.131_splice c.e5-1 p.D44_splice EFEMP1_uc002rzj.3_Splice_Site_p.D44_splice|EFEMP1_uc010ypc.2_5'UTR NM_001039348 NP_001034438 Q12805 FBLN3_HUMAN Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA. 44 EGF-like 1; atypical. negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TCATCAATATCTGTGGTCAGT 0.398000 39 29 0 0 0.005443 0 0 AOX1 316 broad.mit.edu 37 2 201464442 201464442 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:201464442C>T uc002uvx.3 + 4 510 c.409C>T c.(409-411)Ctg>Ttg p.L137L NM_001159 NP_001150 Q06278 ADO_HUMAN Homo sapiens aldehyde oxidase 1 (AOX1), mRNA. 137 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) AGAGCCCACTCTGGATCAGTT 0.438000 40 22 0 0 0.002780 0 0 GOLGA5 9950 broad.mit.edu 37 14 93276680 93276680 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:93276680T>C uc001yaz.1 + 4 1256 c.1074T>C c.(1072-1074)gaT>gaC p.D358D NM_005113 NP_005104 Q8TBA6 GOGA5_HUMAN Homo sapiens golgin A5 (GOLGA5), mRNA. 358 Golgi organization cis-Golgi network|integral to membrane ATP binding|Rab GTPase binding|protein homodimerization activity|protein tyrosine kinase activity large_intestine(6)|lung(1)|ovary(2) 9 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) ATGAAGCGGATGCCACTCTGA 0.423000 T RET papillary thyroid 18 5 0 0 0.000602 0 0 FLNC 2318 broad.mit.edu 37 7 128494182 128494182 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:128494182C>T uc003vnz.4 + 39 6848 c.6639C>T c.(6637-6639)gtC>gtT p.V2213V FLNC_uc003voa.4_Silent_p.V2180V NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 2213 Intradomain insert. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CCACCCAGGTCGGCGGGGACC 0.697000 24 32 0 0 0.002445 0 0 CYP3A4 1576 broad.mit.edu 37 7 99361548 99361548 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:99361548T>C uc003urv.2 - 9 1063 c.956A>G c.(955-957)tAt>tGt p.Y319C CYP3A4_uc003urw.2_Missense_Mutation_p.Y318C|CYP3A4_uc011kiz.2_Missense_Mutation_p.Y278C NM_017460 NP_059488 P08684 CP3A4_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA. 319 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) GGCCAGTTCATACATAATGAA 0.468000 38 6 0 0 0.001168 0 0 COL1A2 1278 broad.mit.edu 37 7 94057679 94057679 + Missense_Mutation SNP G A A rs72659343 TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:94057679G>A uc003ung.1 + 49 4072 c.3601G>A c.(3601-3603)Gaa>Aaa p.E1201K COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. 1201 Fibrillar collagen NC1. Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging p.G1200S(1) COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CTCTACTGGCGAAACCTGTAT 0.433000 HNSCC(75;0.22) 163 48 0 0 0.003610 0 0 CGNL1 84952 broad.mit.edu 37 15 57838288 57838288 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:57838288G>A uc010bfw.3 + 18 3817 c.3624G>A c.(3622-3624)ttG>ttA p.L1208L CGNL1_uc002aeg.3_Silent_p.L1208L|CGNL1_uc021smw.1_5'Flank NM_001252335 NP_001239264 Q0VF96 CGNL1_HUMAN Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA. 1208 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) GCTTGCGTTTGAAAGCCATGA 0.592000 14 6 0 0 0.004482 0 0 RC3H1 149041 broad.mit.edu 37 1 173962102 173962102 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:173962102A>G uc010pmt.2 - 0 109 c.22T>C c.(22-24)Tgg>Cgg p.W8R RC3H1_uc001gju.4_Missense_Mutation_p.W8R|RC3H1_uc010pms.2_Missense_Mutation_p.W8R|RC3H1_uc001gjv.3_Missense_Mutation_p.W8R NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA. 8 cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 AAATCCGTCCATTGTGGAGCT 0.438000 89 12 0 0 0.001368 0 0 ADAD1 132612 broad.mit.edu 37 4 123317410 123317411 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:123317410_123317411GG>AA uc003ieo.3 + 6 834_835 c.602_603GG>AA c.(601-603)ggg>gAA p.G201E ADAD1_uc003iep.3_Missense_Mutation_p.G201E|ADAD1_uc003ieq.3_Missense_Mutation_p.G183E NM_139243 NP_001152767 Q96M93 ADAD1_HUMAN Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA. 201 RNA processing|multicellular organismal development nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTTCTAGAAGGGAGACATATTC 0.277000 45 7 0 0 0.004672 0 0 WDR83 84292 broad.mit.edu 37 19 12784099 12784099 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:12784099A>G uc002mue.4 + 9 1112 c.767A>G c.(766-768)gAc>gGc p.D256G WDR83_uc002muc.3_Non-coding_Transcript|WDR83_uc010dyw.3_Missense_Mutation_p.D256G NM_001099737 NP_115708 Q9BRX9 WDR83_HUMAN Homo sapiens WD repeat domain 83 (WDR83), transcript variant 1, mRNA. 256 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm breast(2)|large_intestine(1)|lung(1) 4 TGTTCTGAGGACGGGAAGGTG 0.567000 40 13 0 0 0.004990 0 0 PHLDB1 23187 broad.mit.edu 37 11 118516207 118516207 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:118516207T>C uc001ptr.2 + 16 3608 c.3255T>C c.(3253-3255)ccT>ccC p.P1085P PHLDB1_uc001pts.3_Silent_p.P1085P|PHLDB1_uc001ptt.3_Silent_p.P1038P|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Silent_p.P900P|PHLDB1_uc001ptw.2_Silent_p.P440P|PHLDB1_uc009zai.2_Silent_p.P121P|PHLDB1_uc001ptx.2_Silent_p.P121P|PHLDB1_uc010ryi.1_Silent_p.P228P NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA. 1085 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GCTTCCCCCCTCTCATGCACC 0.652000 82 6 0 0 0.003080 0 0 GATA2 2624 broad.mit.edu 37 3 128199875 128199875 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:128199875G>A uc003ekm.3 - 6 1865 c.1430C>T c.(1429-1431)aCc>aTc p.T477I GATA2_uc003ekn.3_Missense_Mutation_p.T463I|GATA2_uc003eko.2_Missense_Mutation_p.T477I NM_001145661 NP_116027 P23769 GATA2_HUMAN Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA. 477 blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) GCCCATGGCGGTCACCATGCT 0.667000 Mis AML(CML blast transformation) 28 10 0 0 0.000978 0 0 FAM86FP 653113 broad.mit.edu 37 12 8385082 8385082 + RNA SNP C T T rs75230552 TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:8385082C>T uc010sgk.2 - 4 c.706G>A Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA. CTTACAATCCCGTTAGAGTCG 0.428000 147 7 0 0 0.003163 0 0 HDLBP 3069 broad.mit.edu 37 2 242196123 242196123 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:242196123T>C uc002waz.3 - 5 722 c.549A>G c.(547-549)aaA>aaG p.K183K HDLBP_uc002wba.3_Silent_p.K183K|HDLBP_uc021vzg.1_Silent_p.K219K|HDLBP_uc010fzn.1_5'UTR NM_203346 NP_976221 Q00341 VIGLN_HUMAN Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA. 183 KH 1. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane RNA binding|lipid binding|protein binding p.K183fs*42(2) breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) GGATCTGGATTTTGGTTGCAG 0.478000 89 19 0 0 0.008871 0 0 PIM1 5292 broad.mit.edu 37 6 37141788 37141788 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:37141788C>T uc003onk.3 + 5 1293 c.863C>T c.(862-864)cCa>cTa p.P288L PIM1_uc011dtw.2_3'UTR NM_002648 NP_002639 P11309 PIM1_HUMAN Homo sapiens pim-1 oncogene (PIM1), transcript variant 1, mRNA. 379 Protein kinase. 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.H287H(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) CAGAACCATCCATGGATGCAA 0.537000 T BCL6 NHL 38 17 0 0 0.004990 0 0 CHD4 1108 broad.mit.edu 37 12 6702381 6702381 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:6702381A>G uc001qpo.3 - 16 2692 c.2528T>C c.(2527-2529)gTg>gCg p.V843A CHD4_uc001qpn.3_Missense_Mutation_p.V836A|CHD4_uc001qpp.3_Missense_Mutation_p.V840A NM_001273 NP_001264 Q14839 CHD4_HUMAN Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA. 843 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ATGGAATTTCACAGATGCCTC 0.468000 64 14 0 0 0.003163 0 0 LMBRD2 92255 broad.mit.edu 37 5 36122395 36122395 + Nonsense_Mutation SNP A T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:36122395A>T uc003jkb.1 - 8 1522 c.1107T>A c.(1105-1107)taT>taA p.Y369* NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA. 369 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATGTAGGATTATAAAAATATT 0.294000 30 17 0 0 0.004990 0 0 CNPY2 10330 broad.mit.edu 37 12 56704377 56704377 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:56704377G>A uc001sku.2 - 5 1057 c.508C>T c.(508-510)Ctt>Ttt p.L170F NM_014255 NP_055070 Q9Y2B0 CNPY2_HUMAN Homo sapiens canopy 2 homolog (zebrafish) (CNPY2), transcript variant 1, mRNA. 170 Saposin B-type. endoplasmic reticulum|integral to plasma membrane protein binding large_intestine(2)|lung(2) 4 TGGTCACAAAGATCTGCAAAT 0.468000 42 21 0 0 0.002780 0 0 TTN 7273 broad.mit.edu 37 2 179549111 179549111 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:179549111C>T uc021vsy.1 - 128 29161 c.28936G>A c.(28936-28938)Gaa>Aaa p.E9646K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6307K|TTN_uc010fre.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 10573 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTTTTTCTTCCTGGGTAATT 0.388000 48 12 0 0 0.003163 0 0 ARID3C 138715 broad.mit.edu 37 9 34622434 34622434 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:34622434C>T uc011lon.2 - 4 958 c.958G>A c.(958-960)Gag>Aag p.E320K DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank NM_001017363 NP_001017363 A6NKF2 ARI3C_HUMAN Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA. 320 Pro-rich.|REKLES. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) GCTCTCTTCTCTGGGGGCTCC 0.612000 20 82 0 0 0.003610 0 0 TIMM44 10469 broad.mit.edu 37 19 7992167 7992167 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:7992167C>T uc002miz.3 - 12 1436 c.1264G>A c.(1264-1266)Gtg>Atg p.V422M CTXN1_uc002miy.4_5'Flank|CTXN1_uc021uob.1_5'Flank NM_006351 NP_006342 O43615 TIM44_HUMAN Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA. 422 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 AGCGCCCACACGTACAGCATC 0.662000 47 13 0 0 0.003163 0 0 PLEKHA2 59339 broad.mit.edu 37 8 38808377 38808377 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:38808377G>A uc003xmi.4 + 5 589 c.355G>A c.(355-357)Ggt>Agt p.G119S PLEKHA2_uc011lce.2_Missense_Mutation_p.G69S NM_021623 NP_067636 Q9HB19 PKHA2_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA. 119 positive regulation of cell-matrix adhesion cytoplasm|nucleus|plasma membrane|protein complex fibronectin binding|laminin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 13 all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235) GGTTCCCAAAGGTGGGGGCCT 0.547000 24 11 0 0 0.000978 0 0 KRT2 3849 broad.mit.edu 37 12 53043751 53043752 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:53043751_53043752CC>TT uc001sat.3 - 2 840_841 c.807_808GG>AA c.(805-810)gaggat>gaAAat p.D270N NM_000423 NP_000414 P35908 K22E_HUMAN Homo sapiens keratin 2 (KRT2), mRNA. 270 Coil 1B.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) TTGATTTCATCCTCATACCTAT 0.431000 69 21 0 0 0.004672 0 0 CEACAM5 1048 broad.mit.edu 37 19 42223904 42223904 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:42223904G>A uc002orl.3 + 6 1669 c.1548G>A c.(1546-1548)aaG>aaA p.K516K CEACAM5_uc002orj.1_Silent_p.K515K NM_004363 NP_004354 P06731 CEAM5_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA. 516 Ig-like 6. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TGGAGGACAAGGATGCTGTGG 0.557000 95 23 0 0 0.003330 0 0 TAS2R14 50840 broad.mit.edu 37 12 11091267 11091267 + Silent SNP T G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:11091267T>G uc010shi.2 - 0 540 c.540A>C c.(538-540)gtA>gtC p.V180V PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron NM_023922 NP_076411 Q9NYV8 T2R14_HUMAN Homo sapiens taste receptor, type 2, member 14 (TAS2R14), mRNA. 180 detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 8 TGCTGGTTAATACAATAAGAC 0.378000 38 21 0 0 0.002299 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 47 93 0 0 0.003610 0 0 PI4KA 5297 broad.mit.edu 37 22 21068917 21068917 + Splice_Site SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr22:21068917T>C uc002zsz.4 - 46 5477 c.5216_splice c.e46+1 p.S1739_splice PI4KA_uc002zsy.4_Splice_Site_p.S549_splice NM_058004 NP_477352 P42356 PI4KA_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA. 1739 Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity). phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GGCGCCCACCTCTGCATCGGG 0.587000 38 3 0 0 0.000602 0 0 ZNF714 148206 broad.mit.edu 37 19 21300877 21300877 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:21300877A>G uc002npo.4 + 4 1785 c.1407A>G c.(1405-1407)aaA>aaG p.K469K ZNF714_uc002npl.3_Silent_p.K315K|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank NM_182515 NP_872321 Q96N38 ZN714_HUMAN Homo sapiens zinc finger protein 714 (ZNF714), mRNA. 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 ACCTTACTAAACATAACATAA 0.363000 21 4 0 0 0.001168 0 0 ANKS1B 56899 broad.mit.edu 37 12 99194899 99194899 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:99194899C>T uc001tge.2 - 19 3488 c.3071G>A c.(3070-3072)gGa>gAa p.G1024E ANKS1B_uc001tgf.2_Missense_Mutation_p.G540E|ANKS1B_uc001tgk.3_Missense_Mutation_p.G321E|ANKS1B_uc010svd.2_Missense_Mutation_p.G30E|ANKS1B_uc001tgd.2_Missense_Mutation_p.G190E|ANKS1B_uc009ztp.3_Missense_Mutation_p.G55E|ANKS1B_uc010svf.2_Missense_Mutation_p.G54E|ANKS1B_uc010sve.2_Missense_Mutation_p.G54E|ANKS1B_uc001tgh.4_Missense_Mutation_p.G30E|ANKS1B_uc009ztr.3_Missense_Mutation_p.G214E|ANKS1B_uc001tgj.3_Missense_Mutation_p.G190E|ANKS1B_uc001tgi.3_Missense_Mutation_p.G274E|ANKS1B_uc009zts.2_Missense_Mutation_p.G250E|ANKS1B_uc001tgg.4_Missense_Mutation_p.G122E|ANKS1B_uc010svg.2_Missense_Mutation_p.G159E NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 1024 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TCCCCAGTCTCCTGTCTGAAA 0.488000 16 10 0 0 0.001368 0 0 FUBP1 8880 broad.mit.edu 37 1 78433885 78433885 + Nonsense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:78433885G>A uc001dii.3 - 2 303 c.214C>T c.(214-216)Caa>Taa p.Q72* FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Nonsense_Mutation_p.Q93* NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA. 72 transcription from RNA polymerase II promoter nucleus RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 GCATCTGGTTGATCTGCAAAA 0.294000 """F, N""" oligodendroglioma 33 7 0 0 0.001984 0 0 PCDH18 54510 broad.mit.edu 37 4 138449932 138449932 + Nonsense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:138449932G>A uc003ihe.4 - 1 2917 c.2530C>T c.(2530-2532)Cag>Tag p.Q844* PCDH18_uc003ihf.4_Nonsense_Mutation_p.Q836*|PCDH18_uc011cgz.2_Nonsense_Mutation_p.Q55*|PCDH18_uc003ihg.4_Nonsense_Mutation_p.Q623*|PCDH18_uc011cha.2_Nonsense_Mutation_p.Q24* NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 844 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.Y843C(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GGTCTTGGCTGATATTGCCCC 0.408000 95 31 0 0 0.002445 0 0 LY6K 54742 broad.mit.edu 37 8 143782022 143782022 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:143782022G>A uc011ljv.2 + 0 494 c.77G>A c.(76-78)cGa>cAa p.R26Q LY6K_uc011ljw.2_Missense_Mutation_p.R26Q|LY6K_uc011ljx.2_Missense_Mutation_p.R26Q NM_017527 NP_059997 Q17RY6 LY6K_HUMAN Homo sapiens lymphocyte antigen 6 complex, locus K (LY6K), transcript variant 1, mRNA. 26 anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4) 10 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GCGAGACAACGAGATCCAGAG 0.711000 4 6 0 0 0.001168 0 0 PROX2 283571 broad.mit.edu 37 14 75329421 75329421 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:75329421G>A uc021rwo.1 - 0 1117 c.1117C>T c.(1117-1119)Ccc>Tcc p.P373S PROX2_uc001xqp.2_Missense_Mutation_p.P373S|PROX2_uc001xqq.2_Intron NM_001080408 NP_001229936 Q3B8N5 PROX2_HUMAN Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA. 373 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) TCTGAGGAGGGGTGCCTCTGG 0.542000 25 19 0 0 0.006122 0 0 FBF1 85302 broad.mit.edu 37 17 73908360 73908360 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:73908360A>G uc002jqc.3 - 27 3505 c.3231T>C c.(3229-3231)cgT>cgC p.R1077R FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.R1068R|MRPL38_uc002jpz.1_5'Flank|FBF1_uc002jqb.3_Non-coding_Transcript|FBF1_uc010dgr.2_Silent_p.R387R NM_001080542 NP_001074011 A6NLR5 A6NLR5_HUMAN Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA. 1077 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 GGCTGCACCAACGGGTGGTGG 0.622000 16 3 0 0 0.004672 0 0 VPS13B 157680 broad.mit.edu 37 8 100588007 100588007 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:100588007A>G uc003yiv.3 + 31 5257 c.5146A>G c.(5146-5148)Act>Gct p.T1716A VPS13B_uc003yiw.3_Missense_Mutation_p.T1691A NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 1716 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AAATTTGCATACTGAGGTTAG 0.378000 58 6 0 0 0.001168 0 0 NCLN 56926 broad.mit.edu 37 19 3193415 3193415 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:3193415C>T uc002lxi.3 + 2 663 c.509C>T c.(508-510)tCt>tTt p.S170F NCLN_uc002lxh.1_Non-coding_Transcript NM_020170 NP_064555 Q969V3 NCLN_HUMAN Homo sapiens nicalin (NCLN), mRNA. 170 proteolysis|regulation of signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus peptidase activity|protein binding kidney(1)|lung(3)|skin(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18) GGCTCCGCCTCTGCTGCTGAA 0.682000 19 10 0 0 0.001855 0 0 WNT2 7472 broad.mit.edu 37 7 116918401 116918401 + Silent SNP A C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:116918401A>C uc003viz.3 - 4 1191 c.891T>G c.(889-891)acT>acG p.T297T WNT2_uc003vja.3_Silent_p.T201T NM_003391 NP_003382 P09544 WNT2_HUMAN Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA. 297 Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity p.N295_D302del(2) breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) TGCCCCGGGAAGTCAGGTTGC 0.567000 15 14 0 0 0.001855 0 0 GLIPR1 11010 broad.mit.edu 37 12 75874778 75874778 + Missense_Mutation SNP A G G rs144436831 by1000genomes TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:75874778A>G uc001sxs.3 + 0 266 c.118A>G c.(118-120)Atc>Gtc p.I40V GLIPR1_uc009zsb.1_Missense_Mutation_p.I40V NM_006851 NP_006842 P48060 GLIP1_HUMAN Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA. 40 cellular lipid metabolic process extracellular region|integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 14 CTGCGTTCGAATCCATAACAA 0.378000 43 14 0 0 0.003163 0 0 EPHA8 2046 broad.mit.edu 37 1 22927261 22927261 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:22927261G>A uc001bfx.1 + 13 2621 c.2496G>A c.(2494-2496)ctG>ctA p.L832L NM_020526 NP_065387 P29322 EPHA8_HUMAN Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA. 832 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 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;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GGGAGGTGCTGGCCTATGGGG 0.677000 74 13 0 0 0.003163 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140215371 140215371 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:140215371A>G uc003lhq.2 + 0 1403 c.1403A>G c.(1402-1404)aAc>aGc p.N468S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.N468S NM_018910 NP_061733 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA. 482 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGGAGAACAACCCGCCGGGC 0.672000 39 16 0 0 0.003163 0 0 NLRP1 22861 broad.mit.edu 37 17 5486148 5486148 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:5486148G>A uc002gci.3 - 1 845 c.290C>T c.(289-291)cCc>cTc p.P97L NLRP1_uc002gcg.1_Missense_Mutation_p.P97L|NLRP1_uc002gch.4_Missense_Mutation_p.P97L|NLRP1_uc002gck.3_Missense_Mutation_p.P97L|NLRP1_uc002gcj.3_Missense_Mutation_p.P97L|NLRP1_uc002gcl.3_Missense_Mutation_p.P97L|NLRP1_uc010clh.3_Missense_Mutation_p.P97L NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 97 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) TGGGCTGTAGGGGAATGAGGG 0.607000 19 6 0 0 0.003080 0 0 MAP1A 4130 broad.mit.edu 37 15 43822055 43822055 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:43822055G>A uc001zrt.3 + 4 8710 c.8243G>A c.(8242-8244)gGg>gAg p.G2748E NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 2748 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GCCCAGTGGGGGGAGAATCTT 0.552000 10 12 0 0 0.000978 0 0 MTHFD1 4522 broad.mit.edu 37 14 64884744 64884744 + Splice_Site SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:64884744T>C uc001xhb.3 + 7 1002 c.615_splice c.e7+2 p.E205_splice MTHFD1_uc010aqe.2_Splice_Site_p.E241_splice|MTHFD1_uc010aqf.3_Splice_Site_p.E261_splice NM_005956 NP_005947 P11586 C1TC_HUMAN Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA. 205 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) GATGAGGAGGTAGGGTGTCCA 0.542000 58 8 0 0 0.004482 0 0 UCMA 221044 broad.mit.edu 37 10 13275752 13275752 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:13275752C>T uc001imd.3 - 1 177 c.107G>A c.(106-108)gGa>gAa p.G36E NM_145314 NP_660357 Q8WVF2 UCMA_HUMAN Homo sapiens upper zone of growth plate and cartilage matrix associated (UCMA), mRNA. 36 proteinaceous extracellular matrix breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 CGCCTCTTCTCCCGCCATCTG 0.647000 46 14 0 0 0.003163 0 0 ADNP2 22850 broad.mit.edu 37 18 77894959 77894959 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr18:77894959C>T uc002lnw.3 + 3 2118 c.1663C>T c.(1663-1665)Cct>Tct p.P555S NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN Homo sapiens ADNP homeobox 2 (ADNP2), mRNA. 555 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) GGGAGTTCTTCCTGTGGGCCA 0.557000 49 15 0 0 0.004007 0 0 GNB1L 54584 broad.mit.edu 37 22 19799823 19799823 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr22:19799823C>T uc002zqf.1 - 4 639 c.402G>A c.(400-402)ggG>ggA p.G134G NM_053004 NP_443730 Q9BYB4 GNB1L_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA. 134 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 12 Colorectal(54;0.0993) CGCTGCCCCTCCCTGGCACGG 0.652000 18 9 0 0 0.006214 0 0 MARCH6 10299 broad.mit.edu 37 5 10402676 10402676 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:10402676T>C uc003jet.1 + 13 1337 c.1154T>C c.(1153-1155)gTa>gCa p.V385A MARCH6_uc011cmu.1_Missense_Mutation_p.V337A|MARCH6_uc003jeu.1_Missense_Mutation_p.V83A|MARCH6_uc011cmv.1_Missense_Mutation_p.V280A NM_005885 NP_005876 O60337 MARH6_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA. 385 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 GAAATTGGAGTATTCCCTCTC 0.343000 245 111 0 0 0.003610 0 0 YWHAQ 10971 broad.mit.edu 37 2 9727571 9727571 + Missense_Mutation SNP A C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:9727571A>C uc002qzx.3 - 4 769 c.650T>G c.(649-651)aTc>aGc p.I217S NM_006826 NP_006817 P27348 1433T_HUMAN Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide (YWHAQ), mRNA. 217 negative regulation of transcription, DNA-dependent centrosome|nucleus protein N-terminus binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.241) CAACTGCATGATGAGGGTGCT 0.318000 67 28 0 0 0.002445 0 0 OR2M4 26245 broad.mit.edu 37 1 248402405 248402405 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:248402405A>G uc010pzh.2 + 0 175 c.175A>G c.(175-177)Atg>Gtg p.M59V NM_017504 NP_059974 Q96R27 OR2M4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA. 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCACACCCCCATGTACTTCCT 0.458000 117 13 0 0 0.001855 0 0 RCAN2 10231 broad.mit.edu 37 2 174047583 174047583 + Splice_Site SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:174047583A>G uc002uhz.3 + 4 448 c.248_splice c.e4-1 p.E83_splice RCAN2_uc002uhx.3_Splice_Site_p.E83_splice|RCAN2_uc002uhy.3_Splice_Site_p.E83_splice|RCAN2_uc010zei.2_Splice_Site NM_016653 NP_057737 Q14206 RCAN2_HUMAN Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA. 0 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 TTAAAATAGAATATGCTTCTC 0.303000 42 14 0 0 0.004007 0 0 MYF6 4618 broad.mit.edu 37 12 81101648 81101648 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:81101648G>A uc001szf.2 + 0 241 c.150G>A c.(148-150)ccG>ccA p.P50P NM_002469 NP_002460 P23409 MYF6_HUMAN Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA. 50 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity p.P50P(2)|p.P49P(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 AAATGCCCCCGGAAGCGGGGA 0.612000 45 18 0 0 0.007413 0 0 MLL3 58508 broad.mit.edu 37 7 151851483 151851484 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:151851483_151851484GG>AA uc003wla.3 - 46 12226_12227 c.12007_12008CC>TT c.(12007-12009)ccc>TTc p.P4003F MLL3_uc003wkz.3_Missense_Mutation_p.P3121F|MLL3_uc003wkx.3_Missense_Mutation_p.P161F|MLL3_uc003wky.3_Missense_Mutation_p.P1567F NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 4003 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AGAGGATGAGGGAACAAAACTG 0.505000 N medulloblastoma 117 97 0 0 0.004672 0 0 AGPAT3 56894 broad.mit.edu 37 21 45379564 45379564 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr21:45379564T>C uc002zdx.3 + 3 928 c.263T>C c.(262-264)aTg>aCg p.M88T AGPAT3_uc002zdv.3_Missense_Mutation_p.M1T|AGPAT3_uc002zdw.3_Missense_Mutation_p.M1T|AGPAT3_uc002zdy.3_5'UTR NM_020132 NP_064517 Q9NRZ7 PLCC_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA. 1 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) AGCAGCGCCATGGGCCTGCTG 0.647000 90 28 0 0 0.001786 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192851 132192852 + Missense_Mutation DNP CT GC GC TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:132192851_132192852CT>GC uc003vra.4 - 1 830_831 c.601_602AG>GC c.(601-603)agc>GCc p.S201A PLXNA4_uc003vrc.2_Missense_Mutation_p.S201A|PLXNA4_uc003vrb.3_Missense_Mutation_p.S201A NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 201 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CAGTTTCCGGCTGGAGATGGTG 0.530000 207 14 0 0 0.004672 0 0 TTLL4 9654 broad.mit.edu 37 2 219603140 219603140 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:219603140C>T uc002viy.3 + 2 1111 c.741C>T c.(739-741)atC>atT p.I247I TTLL4_uc010zkl.1_Silent_p.I82I|TTLL4_uc010fvx.3_Silent_p.I247I NM_014640 NP_055455 Q14679 TTLL4_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA. 247 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) CACCCAAGATCCAGCCTGTCT 0.537000 72 37 0 0 0.006999 0 0 S1PR3 1903 broad.mit.edu 37 9 91616904 91616904 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:91616904C>T uc022bjm.1 + 0 789 c.789C>T c.(787-789)ttC>ttT p.F263F S1PR3_uc004aqe.3_Silent_p.F263F NM_005226 NP_005217 Q99500 S1PR3_HUMAN Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA. 263 anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1) 34 TCATCCTCTTCCTCATTGATG 0.592000 28 13 0 0 0.002450 0 0 GPR116 221395 broad.mit.edu 37 6 46830682 46830682 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:46830682C>T uc003oyo.3 - 14 2431 c.2142G>A c.(2140-2142)gaG>gaA p.E714E GPR116_uc011dwj.1_Silent_p.E269E|GPR116_uc011dwk.1_Silent_p.E143E|GPR116_uc003oyp.3_Silent_p.E572E|GPR116_uc003oyq.3_Silent_p.E714E|GPR116_uc010jzi.1_Silent_p.E386E NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 714 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) TTCTCTTCTCCTCCCACTGGG 0.522000 116 49 0 0 0.003610 0 0 SMARCD3 6604 broad.mit.edu 37 7 150937310 150937310 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:150937310T>C uc003wjs.3 - 9 1162 c.1061A>G c.(1060-1062)aAg>aGg p.K354R SMARCD3_uc003wjt.3_Missense_Mutation_p.K341R|SMARCD3_uc003wju.3_Missense_Mutation_p.K341R NM_001003801 NP_001003801 Q6STE5 SMRD3_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA. 354 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2) 15 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCACGCCGTCTTCTTCTGGTC 0.617000 68 8 0 0 0.000978 0 0 PNPLA1 285848 broad.mit.edu 37 6 36270088 36270088 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:36270088G>A uc010jwf.2 + 5 1226 c.1226G>A c.(1225-1227)gGa>gAa p.G409E PNPLA1_uc010jwe.1_Missense_Mutation_p.G323E|PNPLA1_uc003olw.1_Missense_Mutation_p.G314E NM_001145717 NP_775947 Q8N8W4 PLPL1_HUMAN Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA. 409 Pro-rich. lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 CAACCGTCTGGATCACCAGCC 0.607000 OREG0017382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 20 0 0 0.001882 0 0 FAT3 120114 broad.mit.edu 37 11 92564897 92564897 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:92564897G>A uc001pdj.4 + 12 9608 c.9591G>A c.(9589-9591)caG>caA p.Q3197Q NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 3197 Cadherin 29. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACCGTGAGCAGCAGTCTTCGT 0.562000 TCGA Ovarian(4;0.039) 218 6 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9075993 9075994 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:9075993_9075994GG>AA uc002mkp.3 - 2 11656_11657 c.11452_11453CC>TT c.(11452-11454)ccc>TTc p.P3818F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3819 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 AGTGGTGGTGGGAAGCTGAGTG 0.510000 158 25 0 0 0.004672 0 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139908142 139908142 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:139908142C>T uc003lfs.2 + 28 5765 c.5611C>T c.(5611-5613)Cgc>Tgc p.R1871C ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.R1871C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.R610C|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.R509C|ANKHD1-EIF4EBP3_uc010jfl.3_Missense_Mutation_p.R306C|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.R8C NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA. 1871 cytoplasm|nucleus RNA binding breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2) 57 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGGCATCCTCGCTTACCCAT 0.493000 19 23 0 0 0.002780 0 0 SIAE 54414 broad.mit.edu 37 11 124517266 124517267 + Missense_Mutation DNP CA AG AG TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:124517266_124517267CA>AG uc001qan.3 - 6 1133_1134 c.960_961TG>CT c.(958-963)cttgtc>ctCTtc p.V321F SIAE_uc021qru.1_Missense_Mutation_p.V286F NM_170601 NP_001186851 Q9HAT2 SIAE_HUMAN Homo sapiens sialic acid acetylesterase (SIAE), transcript variant 1, mRNA. 321 extracellular region|lysosome carboxylesterase activity|sialate O-acetylesterase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 15 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243) CGTACCTGGACAAGTCCAAATG 0.505000 18 22 0 0 0.004672 0 0 GGA2 23062 broad.mit.edu 37 16 23505681 23505681 + Missense_Mutation SNP C G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:23505681C>G uc002dlq.3 - 2 278 c.195G>C c.(193-195)tgG>tgC p.W65C GGA2_uc010bxo.2_Non-coding_Transcript NM_015044 NP_055859 Q9UJY4 GGA2_HUMAN Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA. 65 VHS. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network ADP-ribosylation factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(48;0.0386) GGGCCAGTAGCCAGGGCGCAT 0.512000 56 12 0 0 0.003163 0 0 ZNF451 26036 broad.mit.edu 37 6 56993563 56993563 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:56993563G>A uc003pdm.1 + 4 573 c.349G>A c.(349-351)Gaa>Aaa p.E117K ZNF451_uc003pdl.3_Missense_Mutation_p.E117K|ZNF451_uc003pdn.1_Missense_Mutation_p.E117K|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.E117K NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA. 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TGGGTTACAAGAATTGGAATT 0.353000 60 18 0 0 0.003330 0 0 SSPO 23145 broad.mit.edu 37 7 149500562 149500562 + Splice_Site SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:149500562G>A uc010lpk.3 + 54 7955 c.7955_splice c.e54-1 p.G2652_splice NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 2655 TIL 4. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CATACTCCCAGGATGCCGCTG 0.677000 26 26 0 0 0.007291 0 0 TRH 7200 broad.mit.edu 37 3 129695631 129695631 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:129695631G>A uc003enc.3 + 2 862 c.301G>A c.(301-303)Gaa>Aaa p.E101K NM_007117 NP_009048 P20396 TRH_HUMAN Homo sapiens thyrotropin-releasing hormone (TRH), mRNA. 101 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 14 tgaagaagaggaagaggaaga 0.567000 26 16 0 0 0.003163 0 0 SPECC1 92521 broad.mit.edu 37 17 20013794 20013794 + Missense_Mutation SNP T A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:20013794T>A uc002gwq.3 + 2 312 c.202T>A c.(202-204)Tcg>Acg p.S68T SPECC1_uc010cqx.3_Missense_Mutation_p.S68T|SPECC1_uc002gwr.3_Missense_Mutation_p.S68T|SPECC1_uc002gws.3_Missense_Mutation_p.S68T NM_001243439 NP_001230368 Q5M775 CYTSB_HUMAN Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA. 68 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) TACCGCTGCATCGGGGGTGGT 0.612000 50 11 0 0 0.008291 0 0 TCRBV21S1 0 broad.mit.edu 37 7 142223895 142223895 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:142223895C>T uc003vyi.2 - 1 289 c.272G>A c.(271-273)gGa>gAa p.G91E TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron SubName: Full=V_segment translation product; Flags: Fragment; GGAGTCTACTCCTTTGAGCCT 0.522000 252 24 0 0 0.004656 0 0 ASB6 140459 broad.mit.edu 37 9 132401685 132401685 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:132401685T>C uc004byf.2 - 2 568 c.398A>G c.(397-399)gAc>gGc p.D133G ASB6_uc004bye.1_Missense_Mutation_p.D58G|ASB6_uc010myx.2_Missense_Mutation_p.D133G|ASB6_uc004byg.2_Missense_Mutation_p.D133G|ASB6_uc011mbt.2_Missense_Mutation_p.D54G NM_017873 NP_060343 Q9NWX5 ASB6_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 6 (ASB6), transcript variant 1, mRNA. 133 intracellular signal transduction cytoplasm NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 15 Ovarian(14;0.00556) ACTTACCCGGTCCCTCCGATT 0.622000 14 8 0 0 0.003080 0 0 DISP1 84976 broad.mit.edu 37 1 223156451 223156451 + Splice_Site SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:223156451G>A uc001hnu.2 + 5 865 c.539_splice c.e5+1 p.S180_splice NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 180 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TTGCCAAAAAGGTAAAGTAAT 0.323000 351 147 0 0 0.003610 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131801938 131801938 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:131801938G>A uc002tsa.1 + 11 2185 c.1666G>A c.(1666-1668)Gac>Aac p.D556N ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.D556N|ARHGEF4_uc010fmx.1_Missense_Mutation_p.D496N|ARHGEF4_uc002tsc.1_Missense_Mutation_p.D99N NM_015320 NP_056135 Q9NR80 ARHG4_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA. 556 PH. apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane Rac guanyl-nucleotide exchange factor activity|protein domain specific binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) GGAGGTGGTGGACCTGGAGGA 0.652000 15 4 0 0 0.000248 0 0 HBB 3043 broad.mit.edu 37 11 5247939 5247939 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:5247939C>T uc001mae.1 - 1 233 c.183G>A c.(181-183)gtG>gtA p.V61V CoTC_ribozyme_uc021qcu.1_5'Flank NM_000518 NP_000509 P68871 HBB_HUMAN Homo sapiens hemoglobin, beta (HBB), mRNA. 61 V -> A (in Collingwood; unstable). blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1) 15 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) CATGAGCCTTCACCTTAGGGT 0.557000 Sickle Cell Trait 30 32 0 0 0.001786 0 0 CAMTA2 23125 broad.mit.edu 37 17 4883061 4883061 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:4883061G>A uc010cku.2 - 8 2037 c.1625C>T c.(1624-1626)cCa>cTa p.P542L CAMTA2_uc002gag.2_Missense_Mutation_p.P518L|CAMTA2_uc002gah.2_Missense_Mutation_p.P519L|CAMTA2_uc002gai.2_Missense_Mutation_p.P521L|CAMTA2_uc010ckv.1_Missense_Mutation_p.P166L|CAMTA2_uc010vsu.2_Missense_Mutation_p.P332L NM_001171167 NP_001164638 O94983 CMTA2_HUMAN Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA. 519 IPT/TIG. cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 AGGGATGCTTGGAGCTTCGTC 0.562000 103 43 0 0 0.002222 0 0 ANO3 63982 broad.mit.edu 37 11 26655803 26655803 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:26655803C>T uc001mqt.4 + 18 2071 c.1926C>T c.(1924-1926)ttC>ttT p.F642F ANO3_uc010rdr.2_Silent_p.F626F|ANO3_uc010rds.2_Silent_p.F481F|ANO3_uc010rdt.2_Silent_p.F496F NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN Homo sapiens anoctamin 3 (ANO3), mRNA. 642 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TGAAGATGTTCCTCTTCCAGT 0.393000 13 9 0 0 0.008291 0 0 MAGEB6 158809 broad.mit.edu 37 X 26213011 26213011 + Missense_Mutation SNP A T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrX:26213011A>T uc022buc.1 + 0 1048 c.1048A>T c.(1048-1050)Agt>Tgt p.S350C MAGEB6_uc004dbr.3_Missense_Mutation_p.S350C NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA. 350 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 GGTGTGCAACAGTGATCCTCC 0.493000 37 24 0 0 0.001786 0 0 TRPC6 7225 broad.mit.edu 37 11 101353691 101353691 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:101353691G>A uc001pgk.4 - 4 1924 c.1499C>T c.(1498-1500)tCc>tTc p.S500F TRPC6_uc009ywy.3_Missense_Mutation_p.S384F|TRPC6_uc009ywz.1_Missense_Mutation_p.S445F NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA. 500 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding p.I499L(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TATTACCCAGGATATAATGAG 0.393000 22 32 0 0 0.002836 0 0 DAPK1 1612 broad.mit.edu 37 9 90322084 90322084 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:90322084C>T uc004apc.3 + 25 4236 c.4098C>T c.(4096-4098)acC>acT p.T1366T DAPK1_uc004apd.3_Silent_p.T1366T|DAPK1_uc011ltg.2_Silent_p.T1300T|DAPK1_uc011lth.2_Silent_p.T1103T|DAPK1_uc004apg.2_Silent_p.T343T NM_004938 NP_004929 P53355 DAPK1_HUMAN Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA. 1366 Death. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 GGGAATGGACCACCTACCCTG 0.602000 Chronic Lymphocytic Leukemia, Familial Clustering of 17 14 0 0 0.001855 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64466462 64466462 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:64466462G>A uc003jtp.3 - 23 4040 c.3226C>T c.(3226-3228)Ccc>Tcc p.P1076S ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 1076 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TTAGAAATGGGGGTACTGTCA 0.493000 14 9 0 0 0.008291 0 0 GRIK2 2898 broad.mit.edu 37 6 102372565 102372565 + Missense_Mutation SNP G T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:102372565G>T uc003pqp.4 + 11 2131 c.1838G>T c.(1837-1839)tGg>tTg p.W613L GRIK2_uc010kcw.3_Missense_Mutation_p.W613L|GRIK2_uc003pqo.4_Missense_Mutation_p.W613L|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron NM_021956 NP_068775 Q13002 GRIK2_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA. 613 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AATAGTTTCTGGTTTGGAGTT 0.463000 33 16 4.7546e-09 8.29943e-09 0.004007 1 0 HEATR3 55027 broad.mit.edu 37 16 50138886 50138886 + Nonsense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:50138886C>T uc002efw.3 + 14 2119 c.1957C>T c.(1957-1959)Cag>Tag p.Q653* HEATR3_uc002efx.3_Nonsense_Mutation_p.Q567*|HEATR3_uc021thw.1_Nonsense_Mutation_p.Q195*|AF086132_uc002efy.3_5'Flank NM_182922 NP_891552 Q7Z4Q2 HEAT3_HUMAN Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA. 653 binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 TAGCACAGATCAGCTGTGTGT 0.303000 68 32 0 0 0.002836 0 0 ATG2A 23130 broad.mit.edu 37 11 64684506 64684506 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:64684506G>A uc001obx.3 - 0 217 c.102C>T c.(100-102)agC>agT p.S34S ATG2A_uc010rnt.1_Silent_p.S34S NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA. 34 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GCTGGTCCAGGCTGAGGTGCT 0.582000 24 18 0 0 0.001523 0 0 RYR2 6262 broad.mit.edu 37 1 237580394 237580394 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:237580394C>T uc001hyl.1 + 10 939 c.819C>T c.(817-819)tcC>tcT p.S273S NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 273 MIR 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.L272L(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATGCACGTTCCCTTTGGAGAC 0.418000 35 35 0 0 0.005524 0 0 PHTF2 57157 broad.mit.edu 37 7 77558603 77558603 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:77558603C>T uc003ugs.4 + 10 1423 c.1297C>T c.(1297-1299)Cca>Tca p.P433S PHTF2_uc003ugp.3_Missense_Mutation_p.P395S|PHTF2_uc010ldv.3_Missense_Mutation_p.P395S|PHTF2_uc003ugq.4_Missense_Mutation_p.P395S|PHTF2_uc003ugt.4_Missense_Mutation_p.P399S|PHTF2_uc003ugu.4_Missense_Mutation_p.P395S|PHTF2_uc022agp.1_Missense_Mutation_p.P433S|PHTF2_uc003ugv.3_Missense_Mutation_p.P258S|PHTF2_uc010ldw.2_Missense_Mutation_p.P258S NM_001127357 NP_001120829 Q8N3S3 PHTF2_HUMAN Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA. 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 TCAGATTAATCCATGTGTGAA 0.368000 65 11 0 0 0.000978 0 0 ZNF34 80778 broad.mit.edu 37 8 145999711 145999711 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:145999711G>A uc003zdy.4 - 5 725 c.623C>T c.(622-624)tCa>tTa p.S208L ZNF34_uc010mgb.3_Missense_Mutation_p.S105L|ZNF34_uc003zdx.4_Missense_Mutation_p.S187L NM_030580 NP_085057 Q8IZ26 ZNF34_HUMAN Homo sapiens zinc finger protein 34 (ZNF34), mRNA. 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) GTTGAGATATGATCTCTGTTC 0.408000 20 10 0 0 0.008291 0 0 KIF13A 63971 broad.mit.edu 37 6 17773793 17773793 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:17773793C>T uc003ncg.4 - 35 4400 c.4240G>A c.(4240-4242)Gac>Aac p.D1414N KIF13A_uc003ncf.3_Missense_Mutation_p.D1401N|KIF13A_uc003nch.4_Missense_Mutation_p.D1414N|KIF13A_uc003nci.4_Missense_Mutation_p.D1401N|KIF13A_uc003nce.2_5'UTR NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA. 1414 Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TCAGACATGTCCAACTGGTTC 0.403000 85 35 0 0 0.004878 0 0 FSCN3 29999 broad.mit.edu 37 7 127240445 127240445 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:127240445G>A uc003vmd.2 + 5 1708 c.1489G>A c.(1489-1491)Gaa>Aaa p.E497K FSCN3_uc011koh.1_3'UTR|FSCN3_uc010llc.2_3'UTR NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA. 497 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 GTGTATCTGGGAATTTTAGGT 0.547000 91 14 0 0 0.006122 0 0 IPO7 10527 broad.mit.edu 37 11 9459719 9459719 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:9459719T>C uc001mho.3 + 21 2724 c.2582T>C c.(2581-2583)aTt>aCt p.I861T NM_006391 NP_006382 O95373 IPO7_HUMAN Homo sapiens importin 7 (IPO7), mRNA. 861 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction Ran GTPase binding|protein transporter activity|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TCTGGACAGATTTTGCCGGCT 0.388000 144 58 0 0 0.003610 0 0 ANKRD13C 81573 broad.mit.edu 37 1 70781180 70781180 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:70781180A>G uc001dex.4 - 3 973 c.647T>C c.(646-648)tTa>tCa p.L216S ANKRD13C_uc009wbk.3_Missense_Mutation_p.L181S NM_030816 NP_110443 Q8N6S4 AN13C_HUMAN Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA. 216 protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 19 CAGGGCTTTTAATAATCGAGG 0.289000 92 17 0 0 0.008871 0 0 PRB1 5542 broad.mit.edu 37 12 11506602 11506602 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:11506602T>C uc001qzw.1 - 2 472 c.435A>G c.(433-435)ggA>ggG p.G145G PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA. 145 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5). extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) GGGACTTGTCTCCTTGTGGGG 0.607000 225 5 0 0 0.000602 0 0 PLXNA2 5362 broad.mit.edu 37 1 208218052 208218052 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:208218052C>T uc001hgz.3 - 19 4433 c.3675G>A c.(3673-3675)tcG>tcA p.S1225S NM_025179 NP_079455 O75051 PLXA2_HUMAN Homo sapiens plexin A2 (PLXNA2), mRNA. 1225 IPT/TIG 4. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) TGACACTCACCGAGCCAGGCG 0.597000 29 9 0 0 0.006214 0 0 ALG3 10195 broad.mit.edu 37 3 183961764 183961764 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:183961764G>A uc003fne.2 - 5 778 c.747C>T c.(745-747)ttC>ttT p.F249F ALG3_uc011brc.1_Silent_p.F214F|ALG3_uc011brd.1_Silent_p.F193F|ALG3_uc011bre.1_Silent_p.F201F NM_005787 NP_005778 Q92685 ALG3_HUMAN Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA. 249 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCTCCAGCAGGAAGGGCAGCC 0.597000 34 20 0 0 0.003330 0 0 COL12A1 1303 broad.mit.edu 37 6 75861946 75861946 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:75861946C>T uc021zbv.1 - 17 3771 c.3736G>A c.(3736-3738)Gat>Aat p.D1246N COL12A1_uc021zbw.1_Missense_Mutation_p.D82N|COL12A1_uc003phs.3_Missense_Mutation_p.D1246N|COL12A1_uc003pht.3_Missense_Mutation_p.D82N NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 1246 VWFA 3. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength p.D1246N(2) 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 GTTCTGGGATCCCCACTATAC 0.443000 29 13 0 0 0.001368 0 0 PLCD3 113026 broad.mit.edu 37 17 43194047 43194047 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:43194047C>T uc002iib.3 - 7 1479 c.1365G>A c.(1363-1365)gtG>gtA p.V455V NM_133373 NP_588614 Q8N3E9 PLCD3_HUMAN Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA. 455 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) GCGCCTGTGTCACCAGCATGT 0.672000 57 21 0 0 0.001523 0 0 SLC5A3 6526 broad.mit.edu 37 21 35469584 35469584 + Missense_Mutation SNP T A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr21:35469584T>A uc021wir.1 + 0 2087 c.2087T>A c.(2086-2088)gTa>gAa p.V696E SLC5A3_uc002yto.3_Missense_Mutation_p.V696E|MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA. 696 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 CAAGTTAAAGTAATACTAAAT 0.378000 411 64 0 0 0.003610 0 0 DYRK1A 1859 broad.mit.edu 37 21 38877845 38877845 + Missense_Mutation SNP A T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr21:38877845A>T uc002ywk.3 + 8 1575 c.1499A>T c.(1498-1500)gAg>gTg p.E500V DYRK1A_uc002ywi.3_Missense_Mutation_p.E500V|DYRK1A_uc002ywj.3_Missense_Mutation_p.E491V|DYRK1A_uc002ywm.3_Missense_Mutation_p.E500V|DYRK1A_uc011aei.2_Missense_Mutation_p.E261V NM_001396 NP_001387 Q13627 DYR1A_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA. 500 nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 CCCGCCATGGAGCAGTCTCAG 0.448000 136 17 0 0 0.002299 0 0 PHLDB1 23187 broad.mit.edu 37 11 118502728 118502728 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:118502728T>C uc001ptr.2 + 8 2552 c.2199T>C c.(2197-2199)cgT>cgC p.R733R PHLDB1_uc001pts.3_Silent_p.R733R|PHLDB1_uc001ptt.3_Silent_p.R733R|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Silent_p.R533R|PHLDB1_uc001ptw.2_Silent_p.R135R|PHLDB1_uc009zai.2_5'UTR|PHLDB1_uc001ptx.2_5'UTR NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA. 733 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) TCAAGGTCCGTGTGAAGGAGC 0.617000 29 8 0 0 0.004482 0 0 DEFB127 140850 broad.mit.edu 37 20 139425 139425 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:139425A>G uc002wcy.1 + 1 60 c.60A>G c.(58-60)caA>caG p.Q20Q NM_139074 NP_620713 Q9H1M4 DB127_HUMAN Homo sapiens defensin, beta 127 (DEFB127), mRNA. 20 defense response to bacterium|innate immune response extracellular region NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4) 9 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) TAACCGAACAACTTAAGAAGT 0.413000 38 6 0 0 0.003080 0 0 EMCN 51705 broad.mit.edu 37 4 101368726 101368726 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:101368726C>T uc003hvr.3 - 4 558 c.379G>A c.(379-381)Gaa>Aaa p.E127K EMCN_uc011cel.2_Intron|EMCN_uc011cem.2_Missense_Mutation_p.E127K NM_016242 NP_057326 Q9ULC0 MUCEN_HUMAN Homo sapiens endomucin (EMCN), transcript variant 1, mRNA. 127 Thr-rich. extracellular region|integral to membrane|plasma membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.49e-08) CTCTGAGTTTCAGCTTTAGAA 0.289000 30 6 0 0 0.001168 0 0 ATP4A 495 broad.mit.edu 37 19 36051443 36051443 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:36051443C>T uc002oal.1 - 5 638 c.609G>A c.(607-609)gaG>gaA p.E203E ATP4A_uc010eee.1_5'Flank NM_000704 NP_000695 P20648 ATP4A_HUMAN Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA. 203 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CACCTTTCATCTCCACCAGGT 0.617000 27 16 0 0 0.004007 0 0 TAF2 6873 broad.mit.edu 37 8 120807857 120807857 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:120807857A>G uc003you.3 - 8 1376 c.1106T>C c.(1105-1107)gTg>gCg p.V369A NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA. 369 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TCCCTTCAGCACCCATTCATC 0.348000 72 7 0 0 0.001984 0 0 SH2B3 10019 broad.mit.edu 37 12 111885901 111885901 + Missense_Mutation SNP G C C rs79819500 byFrequency TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:111885901G>C uc001tsf.3 + 6 1553 c.1526G>C c.(1525-1527)cGg>cCg p.R509P SH2B3_uc001tse.3_Missense_Mutation_p.R508P|SH2B3_uc010syf.2_Missense_Mutation_p.R508P|SH2B3_uc010syg.2_Missense_Mutation_p.R306P NM_005475 NP_005466 Q9UQQ2 SH2B3_HUMAN Homo sapiens SH2B adaptor protein 3 (SH2B3), mRNA. 508 blood coagulation cytosol signal transducer activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 10 GGCTGTCCCCGGGGGCTCAGC 0.622000 70 18 0 0 0.007413 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018416 161018416 + Missense_Mutation SNP C G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:161018416C>G uc001fxl.3 - 11 2741 c.2395G>C c.(2395-2397)Gac>Cac p.D799H USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Missense_Mutation_p.D645H|ARHGAP30_uc009wtx.3_Missense_Mutation_p.D472H NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA. 799 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) TGTCCTTTGTCCTCATCCTCT 0.522000 273 11 0 0 0.000978 0 0 ATP8B2 57198 broad.mit.edu 37 1 154317948 154317948 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:154317948A>G uc001fex.3 + 22 2720 c.2720A>G c.(2719-2721)tAt>tGt p.Y907C NM_020452 NP_065185 P98198 AT8B2_HUMAN Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA. 893 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.Y907C(2) IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TTTCTTTGCTATTTCTTCTAC 0.498000 OREG0013835 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 388 52 0 0 0.003610 0 0 DYRK1A 1859 broad.mit.edu 37 21 38877829 38877829 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr21:38877829A>G uc002ywk.3 + 8 1559 c.1483A>G c.(1483-1485)Aca>Gca p.T495A DYRK1A_uc002ywi.3_Missense_Mutation_p.T495A|DYRK1A_uc002ywj.3_Missense_Mutation_p.T486A|DYRK1A_uc002ywm.3_Missense_Mutation_p.T495A|DYRK1A_uc011aei.2_Missense_Mutation_p.T256A NM_001396 NP_001387 Q13627 DYR1A_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA. 495 nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 TAGTGTATCTACAAGCCCCGC 0.463000 140 18 0 0 0.001882 0 0 OBSCN 84033 broad.mit.edu 37 1 228399500 228399500 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:228399500T>C uc009xez.1 + 1 60 c.16T>C c.(16-18)Ttc>Ctc p.F6L OBSCN_uc001hsn.3_Missense_Mutation_p.F6L|AK056556_uc001hsm.1_Intron NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 6 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TCAGCCACAGTTCAGCGGGGC 0.677000 21 6 0 0 0.003080 0 0 ZNF746 155061 broad.mit.edu 37 7 149171731 149171731 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:149171731T>C uc010lpi.2 - 6 1953 c.1682A>G c.(1681-1683)cAc>cGc p.H561R ZNF746_uc003wfw.2_Missense_Mutation_p.H560R NM_001163474 NP_001156946 Q6NUN9 ZN746_HUMAN Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA. 560 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding p.T561M(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CACGCCCGTGTGCGTTCGGTA 0.657000 64 5 0 0 0.001168 0 0 TNXB 7148 broad.mit.edu 37 6 32049968 32049968 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:32049968C>T uc003nzl.2 - 8 3783 c.3581G>A c.(3580-3582)aGg>aAg p.R1194K NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1281 Fibronectin type-III 4. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ATCCCTGTCCCTGTACTGGAC 0.577000 178 109 0 0 0.003610 0 0 BANP 54971 broad.mit.edu 37 16 88052124 88052124 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:88052124T>C uc002fkr.3 + 6 943 c.722T>C c.(721-723)aTc>aCc p.I241T BANP_uc010vov.2_Missense_Mutation_p.I216T|BANP_uc002fkq.3_Missense_Mutation_p.I210T|BANP_uc002fks.4_Missense_Mutation_p.I210T|BANP_uc002fkp.3_Missense_Mutation_p.I210T|BANP_uc010vow.2_Missense_Mutation_p.I249T|BANP_uc021tml.1_Missense_Mutation_p.I249T|BANP_uc002fko.1_Missense_Mutation_p.I146T NM_001173543 NP_001167014 Q8N9N5 BANP_HUMAN Homo sapiens BTG3 associated nuclear protein (BANP), transcript variant 7, mRNA. 241 BEN.|Interaction with CUX1 and HDAC1 (By similarity). cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.00551) ATGCTGCACATCAGCACCAAC 0.632000 17 4 0 0 0.000248 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4925127 4925127 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrY:4925127C>T uc004fqo.3 + 0 997 c.263C>T c.(262-264)tCc>tTc p.S88F PCDH11Y_uc010nwg.1_Missense_Mutation_p.S77F|PCDH11Y_uc004fql.1_Missense_Mutation_p.S77F|PCDH11Y_uc004fqm.1_Missense_Mutation_p.S77F|PCDH11Y_uc004fqn.1_Missense_Mutation_p.S88F NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA. 88 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CCAAACAAGTCCTTGACAACT 0.453000 21 34 0 0 0.002445 0 0 SRP54 6729 broad.mit.edu 37 14 35478024 35478024 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:35478024C>T uc001wso.3 + 6 823 c.472C>T c.(472-474)Cca>Tca p.P158S SRP54_uc010tpp.2_Missense_Mutation_p.P109S|SRP54_uc010tpq.2_Missense_Mutation_p.P94S NM_003136 NP_003127 P61011 SRP54_HUMAN Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA. 158 G-domain. GTP catabolic process|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation|response to drug cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|GDP binding|GTP binding|drug binding|endoplasmic reticulum signal peptide binding|nucleoside-triphosphatase activity|ribonucleoprotein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) AGCAAGAATTCCATTTTATGG 0.313000 26 14 0 0 0.004007 0 0 FER1L6 654463 broad.mit.edu 37 8 125115442 125115442 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:125115442C>T uc003yqw.3 + 38 5387 c.5181C>T c.(5179-5181)gcC>gcT p.A1727A AK057332_uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 1727 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CTGCCAAAGCCTGTGATCTTG 0.458000 221 77 0 0 0.003610 0 0 CELF4 56853 broad.mit.edu 37 18 34850819 34850819 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr18:34850819C>T uc002lae.2 - 7 1407 c.1011G>A c.(1009-1011)ggG>ggA p.G337G CELF4_uc021uix.1_Silent_p.G335G|CELF4_uc021uiy.1_Silent_p.G336G|CELF4_uc002lag.2_Silent_p.G327G|CELF4_uc002laf.2_Silent_p.G332G|CELF4_uc002lai.2_Silent_p.G322G|CELF4_uc002lah.2_Silent_p.G62G NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA. 337 embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 AGCCATTCACCCCAATGGGGG 0.632000 18 9 0 0 0.004482 0 0 BAZ2A 11176 broad.mit.edu 37 12 57005902 57005902 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:57005902C>T uc001slq.1 - 5 1464 c.1270G>A c.(1270-1272)Gca>Aca p.A424T BAZ2A_uc001slp.1_Missense_Mutation_p.A422T|BAZ2A_uc009zow.1_Missense_Mutation_p.A392T NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA. 424 DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 GGTGAGGTTGCTGGATGTAGC 0.537000 42 6 0 0 0.001168 0 0 FAM208B 54906 broad.mit.edu 37 10 5788707 5788707 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:5788707G>A uc001iij.3 + 14 3948 c.3323G>A c.(3322-3324)aGg>aAg p.R1108K FAM208B_uc001iik.3_Intron NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA. 1108 CAAGGCCTGAGGGACATTCCC 0.468000 45 63 0 0 0.003610 0 0 ABCC12 94160 broad.mit.edu 37 16 48151211 48151211 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:48151211C>T uc002efc.1 - 11 2092 c.1746G>A c.(1744-1746)caG>caA p.Q582Q ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Intron NM_033226 NP_150229 Q96J65 MRP9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA. 582 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TCAGGTCCTTCTGGAGGCCAC 0.587000 29 6 0 0 0.003080 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144874773 144874773 + Missense_Mutation SNP A C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:144874773A>C uc021ouh.1 - 29 5137 c.4835T>G c.(4834-4836)tTc>tGc p.F1612C NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.F1612C|PDE4DIP_uc001elx.4_Missense_Mutation_p.F1568C|PDE4DIP_uc001elv.4_Missense_Mutation_p.F619C NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 1612 NBPF. cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATCAGACAGGAAAGAGGTGCT 0.552000 T PDGFRB MPD 334 33 0 0 0.003755 0 0 INO80E 283899 broad.mit.edu 37 16 30008161 30008161 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:30008161A>G uc002dvg.1 + 2 286 c.185A>G c.(184-186)aAc>aGc p.N62S BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_Non-coding_Transcript|HIRIP3_uc002dve.3_5'Flank|HIRIP3_uc002dvf.3_5'Flank|HIRIP3_uc021tgg.1_5'Flank NM_173618 NP_775889 Q8NBZ0 IN80E_HUMAN Homo sapiens INO80 complex subunit E (INO80E), mRNA. 62 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 6 CAGTACGAGAACGTGGATGAA 0.542000 62 18 0 0 0.003954 0 0 STAU1 6780 broad.mit.edu 37 20 47740945 47740945 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:47740945A>G uc002xud.3 - 6 1200 c.789T>C c.(787-789)ccT>ccC p.P263P STAU1_uc002xua.3_Silent_p.P182P|STAU1_uc002xub.3_Silent_p.P188P|STAU1_uc002xuc.3_Silent_p.P182P|STAU1_uc002xue.3_Silent_p.P182P|STAU1_uc002xuf.3_Silent_p.P188P|STAU1_uc002xug.3_Silent_p.P263P NM_017453 NP_059348 O95793 STAU1_HUMAN Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA. 263 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) TTTTGATTCTAGGCTTTACTC 0.423000 224 39 0 0 0.002222 0 0 CDC20B 166979 broad.mit.edu 37 5 54429240 54429240 + Splice_Site SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:54429240A>G uc003jpo.2 - 6 874 c.697_splice c.e6+1 p.Y233_splice CDC20B_uc003jpn.2_Splice_Site_p.Y233_splice|CDC20B_uc010ivu.2_Splice_Site_p.Y233_splice|CDC20B_uc010ivv.2_Splice_Site_p.Y233_splice NM_001170402 NP_001163873 Q86Y33 CD20B_HUMAN Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA. 233 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) GATAACTTACAGTAGTCATTT 0.343000 49 16 0 0 0.003163 0 0 RBM23 55147 broad.mit.edu 37 14 23374168 23374168 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:23374168A>G uc001whg.3 - 8 979 c.780T>C c.(778-780)ggT>ggC p.G260G RBM23_uc001whh.3_Silent_p.G244G|RBM23_uc001whi.3_Silent_p.G226G|RBM23_uc010tne.2_Silent_p.G90G|RBM23_uc001whj.3_Silent_p.G10G|RBM23_uc001whk.1_Silent_p.G260G NM_001077351 NP_001070819 Q86U06 RBM23_HUMAN Homo sapiens RNA binding motif protein 23 (RBM23), transcript variant 1, mRNA. 260 mRNA processing nucleus RNA binding|nucleotide binding endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1) 10 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.0128) GCATTGGTCCACCATTGCCCT 0.527000 147 26 0 0 0.002096 0 0 EGFR 1956 broad.mit.edu 37 7 55224486 55224486 + Missense_Mutation SNP C A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:55224486C>A uc003tqk.3 + 9 1414 c.1168C>A c.(1168-1170)Cag>Aag p.Q390K EGFR_uc003tqh.3_Missense_Mutation_p.Q390K|EGFR_uc003tqi.3_Missense_Mutation_p.Q390K|EGFR_uc003tqj.3_Missense_Mutation_p.Q390K|EGFR_uc022adm.1_Missense_Mutation_p.Q390K|EGFR_uc010kzg.2_Missense_Mutation_p.Q345K|EGFR_uc022adn.1_Missense_Mutation_p.Q345K|EGFR_uc011kco.2_Missense_Mutation_p.Q337K|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 390 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCTGGATCCACAGGAACTGGA 0.373000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 49 9 0.000978159 0.00168681 0.000978 1 0 PPIL1 51645 broad.mit.edu 37 6 36823785 36823785 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:36823785T>C uc003omu.2 - 3 557 c.305A>G c.(304-306)aAt>aGt p.N102S NM_016059 NP_057143 Q9Y3C6 PPIL1_HUMAN Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 1 (PPIL1), mRNA. 102 Cyclosporin A binding.|PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity lung(1)|ovary(1) 2 TGGCCCCGCATTGGCCATTGC 0.552000 28 12 0 0 0.000978 0 0 EGFLAM 133584 broad.mit.edu 37 5 38406302 38406302 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:38406302G>A uc003jlc.2 + 6 1133 c.787G>A c.(787-789)Gga>Aga p.G263R EGFLAM_uc003jlb.2_Missense_Mutation_p.G263R|EGFLAM_uc003jle.2_Missense_Mutation_p.G29R|EGFLAM_uc003jlf.2_Intron NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 263 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) GGATGATGAAGGATTTGAAGA 0.478000 58 11 0 0 0.001368 0 0 LPGAT1 9926 broad.mit.edu 37 1 211956806 211956806 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:211956806C>T uc001hiu.3 - 4 1305 c.492G>A c.(490-492)aaG>aaA p.K164K LPGAT1_uc001hiv.3_Silent_p.K164K NM_014873 NP_055688 Q92604 LGAT1_HUMAN Homo sapiens lysophosphatidylglycerol acyltransferase 1 (LPGAT1), mRNA. 164 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) CTAAGTGCTTCTTGAGAAGCA 0.403000 95 21 0 0 0.002299 0 0 FAM188B 84182 broad.mit.edu 37 7 30898925 30898925 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:30898925C>T uc003tbt.3 + 12 1807 c.1730C>T c.(1729-1731)tCc>tTc p.S577F FAM188B_uc010kwe.3_Missense_Mutation_p.S548F|FAM188B_uc011kac.1_5'UTR|FAM188B_uc003tbu.3_Missense_Mutation_p.S97F NM_032222 NP_115598 Q4G0A6 F188B_HUMAN Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA. 577 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCCATCCTGTCCAGGTCTACA 0.567000 57 25 0 0 0.008361 0 0 OR51G1 79324 broad.mit.edu 37 11 4945494 4945494 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:4945494G>A uc010qyr.2 - 0 76 c.76C>T c.(76-78)Cat>Tat p.H26Y NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA. 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L25L(1) NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCCAGCCATGGAGACCTTCT 0.463000 15 18 0 0 0.008871 0 0 LCE2C 353140 broad.mit.edu 37 1 152648729 152648729 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:152648729C>T uc021ozc.1 + 0 238 c.238C>T c.(238-240)Ctc>Ttc p.L80F LCE2C_uc001fah.3_Missense_Mutation_p.L80F NM_178429 NP_848516 Q5TA81 LCE2C_HUMAN Homo sapiens late cornified envelope 2C (LCE2C), mRNA. 80 Cys-rich. keratinization endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAGGCCCCGTCTCTTCCACCG 0.687000 66 14 0 0 0.002450 0 0 C6 729 broad.mit.edu 37 5 41142943 41142943 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:41142943C>T uc003jmk.2 - 17 2999 c.2789G>A c.(2788-2790)gGa>gAa p.G930E C6_uc003jml.1_Missense_Mutation_p.G930E NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 930 C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CAAACACTTTCCAGGATGCAG 0.413000 70 31 0 0 0.003755 0 0 BCL7B 9275 broad.mit.edu 37 7 72957930 72957930 + Missense_Mutation SNP A C C rs138796659 TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:72957930A>C uc003tyf.2 - 2 370 c.213T>G c.(211-213)aaT>aaG p.N71K BCL7B_uc003tye.2_Non-coding_Transcript|BCL7B_uc003tyg.2_Missense_Mutation_p.N71K NM_001707 NP_001698 Q9BQE9 BCL7B_HUMAN Homo sapiens B-cell CLL/lymphoma 7B (BCL7B), transcript variant 1, mRNA. 71 actin binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 9 Lung NSC(55;0.0659)|all_lung(88;0.152) AAGGAAAGCCATTAGGTTCTC 0.443000 424 21 0 0 0.002780 0 0 KRT85 3891 broad.mit.edu 37 12 52757039 52757039 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:52757039G>A uc001sag.3 - 4 1062 c.942C>T c.(940-942)taC>taT p.Y314Y NM_002283 NP_002274 P78386 KRT85_HUMAN Homo sapiens keratin 85 (KRT85), mRNA. 314 Coil 2.|Rod. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CCTTGCTACGGTACCAGGACT 0.547000 19 11 0 0 0.001855 0 0 SYK 6850 broad.mit.edu 37 9 93637033 93637034 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:93637033_93637034GG>AA uc004aqz.3 + 8 1288_1289 c.1083_1084GG>AA c.(1081-1086)aaggag>aaAAag p.E362K SYK_uc004ara.3_Missense_Mutation_p.E339K|SYK_uc004arb.3_Missense_Mutation_p.E339K|SYK_uc004arc.3_Missense_Mutation_p.E362K|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript NM_003177 NP_003168 P43405 KSYK_HUMAN Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA. 362 Linker. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly T cell receptor complex|cytosol ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 TCAGGCCCAAGGAGGTTTACCT 0.525000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 103 65 0 0 0.004672 0 0 RB1 5925 broad.mit.edu 37 13 48934160 48934160 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr13:48934160A>G uc001vcb.3 + 6 781 c.615A>G c.(613-615)gtA>gtG p.V205V RB1_uc010acs.1_Non-coding_Transcript|RB1_uc010act.1_5'UTR NM_000321 NP_000312 P06400 RB_HUMAN Homo sapiens retinoblastoma 1 (RB1), mRNA. 205 G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation PML body|Rb-E2F complex|SWI/SNF complex|chromatin DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6)|p.E204fs*10(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGGGGAAGTATTACAAATGG 0.318000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 46 8 0 0 0.003080 0 0 LPPR3 79948 broad.mit.edu 37 19 814959 814959 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:814959A>G uc002lpw.1 - 4 590 c.526T>C c.(526-528)Tcc>Ccc p.S176P LPPR3_uc021ulz.1_5'Flank|LPPR3_uc002lpx.1_Missense_Mutation_p.S176P|LPPR3_uc002lpy.1_5'UTR NM_024888 NP_079164 Q6T4P5 LPPR3_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 3 (LPPR3), mRNA. 176 integral to membrane phosphatidate phosphatase activity ACCTCGCAGGACGTGCCCAGG 0.632000 18 17 0 0 0.004007 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72029312 72029312 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:72029312T>C uc001swo.2 - 9 2508 c.2149A>G c.(2149-2151)Agt>Ggt p.S717G NM_144982 NP_659419 O60293 ZC3H1_HUMAN Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA. 717 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TCAGATTCACTATCATCTGAA 0.358000 78 9 0 0 0.004482 0 0 ESYT2 57488 broad.mit.edu 37 7 158528224 158528224 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:158528224G>A uc003wob.1 - 19 2622 c.2556C>T c.(2554-2556)ttC>ttT p.F852F ESYT2_uc003wny.1_Non-coding_Transcript|ESYT2_uc003wnz.1_Silent_p.F291F|ESYT2_uc003woa.1_Silent_p.F429F NM_020728 NP_065779 A0FGR8 ESYT2_HUMAN Homo sapiens extended synaptotagmin-like protein 2 (ESYT2), mRNA. 880 C2 3. integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 CTTTGGACAGGAAGCCGCCAC 0.473000 153 141 0 0 0.003610 0 0 KIAA0564 23078 broad.mit.edu 37 13 42144660 42144660 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr13:42144660G>A uc001uyj.3 - 43 5623 c.5553C>T c.(5551-5553)gaC>gaT p.D1851D NM_015058 NP_055873 A3KMH1 K0564_HUMAN Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA. 1851 VWFA. extracellular region ATP binding|ATPase activity endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) TTACTTGAGGGTCTCTTGTGA 0.403000 79 22 0 0 0.001882 0 0 C19orf26 255057 broad.mit.edu 37 19 1230911 1230911 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:1230911T>C uc002lrm.2 - 8 1600 c.1325A>G c.(1324-1326)aAg>aGg p.K442R NM_152769 NP_689982 Q8N350 DOS_HUMAN Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA. 267 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCTCCCTGCTTCCCTCCTCT 0.701000 HNSCC(14;0.022) 49 5 0 0 0.001984 0 0 USP7 7874 broad.mit.edu 37 16 9009193 9009193 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:9009193G>A uc002czl.2 - 9 1195 c.996C>T c.(994-996)atC>atT p.I332I USP7_uc010uyk.1_Silent_p.I233I|USP7_uc010uyj.1_Silent_p.I233I|USP7_uc002czk.2_Silent_p.I316I|USP7_uc010uyl.1_Non-coding_Transcript NM_003470 NP_003461 Q93009 UBP7_HUMAN Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA. 332 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process PML body|cytoplasm cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 CTTTACACTGGATATAGGACT 0.303000 67 28 0 0 0.002445 0 0 SRCAP 10847 broad.mit.edu 37 16 30727652 30727652 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:30727652T>C uc002dze.1 + 17 3054 c.2669T>C c.(2668-2670)gTc>gCc p.V890A SRCAP_uc021tgn.1_Missense_Mutation_p.V890A|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.V747A NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 890 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TTCATGAGCGTCATCAACATT 0.478000 166 46 0 0 0.003214 0 0 PPP2R5A 5525 broad.mit.edu 37 1 212519229 212519229 + Nonsense_Mutation SNP G T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:212519229G>T uc001hjb.3 + 4 1232 c.658G>T c.(658-660)Gga>Tga p.G220* PPP2R5A_uc010ptd.2_Nonsense_Mutation_p.G163* NM_006243 NP_006234 Q15172 2A5A_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B', alpha (PPP2R5A), transcript variant 1, mRNA. 220 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) GAAATTTCTTGGATTAAGAGC 0.353000 87 16 2.31682e-05 4.01736e-05 0.003163 1 0 VSTM1 284415 broad.mit.edu 37 19 54544314 54544314 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:54544314C>T uc002qcw.4 - 8 788 c.612G>A c.(610-612)gtG>gtA p.V204V VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Silent_p.V116V|VSTM1_uc002qcx.4_Silent_p.V173V|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Silent_p.V84V NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA. 204 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) CAGCATAGGTCACTCCTTGGG 0.502000 15 4 0 0 0.000602 0 0 HEPH 9843 broad.mit.edu 37 X 65409642 65409642 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrX:65409642C>T uc011moz.2 + 5 1224 c.1087C>T c.(1087-1089)Cat>Tat p.H363Y HEPH_uc004dwn.3_Missense_Mutation_p.H312Y|HEPH_uc004dwo.3_Missense_Mutation_p.H42Y|HEPH_uc010nkr.3_Missense_Mutation_p.H312Y|HEPH_uc011mpa.2_Missense_Mutation_p.H312Y NM_138737 NP_055614 Q9BQS7 HEPH_HUMAN Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA. 309 Plastocyanin-like 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 AGCATTTTTCCATGGACAGAT 0.498000 7 15 0 0 0.002450 0 0 OR52B4 143496 broad.mit.edu 37 11 4388943 4388943 + Nonsense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:4388943G>A uc010qye.2 - 0 674 c.583C>T c.(583-585)Cga>Tga p.R195* NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA. 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R195*(2) NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGTTTATTCGAATGTCATTA 0.338000 16 19 0 0 0.007413 0 0 TRHDE 29953 broad.mit.edu 37 12 72969158 72969158 + Missense_Mutation SNP G C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:72969158G>C uc001sxa.3 + 10 2150 c.2120G>C c.(2119-2121)cGg>cCg p.R707P NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 707 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.R707W(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 CAATTAATCCGGAATCATGAG 0.338000 66 10 0 0 0.008291 0 0 SRPR 6734 broad.mit.edu 37 11 126136122 126136122 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:126136122A>G uc001qdh.3 - 6 1070 c.892T>C c.(892-894)Tct>Cct p.S298P SRPR_uc010sbm.2_Missense_Mutation_p.S270P|FOXRED1_uc001qdi.3_5'Flank|FOXRED1_uc010sbn.2_5'Flank|FOXRED1_uc010sbq.2_5'Flank|FOXRED1_uc010sbo.2_5'Flank|FOXRED1_uc010sbp.2_5'Flank|FOXRED1_uc010sbr.2_5'Flank NM_003139 NP_003130 P08240 SRPR_HUMAN Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA. 298 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) TCGTCATCAGAGCTGCTGCAG 0.522000 76 16 0 0 0.008871 0 0 FAM160B2 64760 broad.mit.edu 37 8 21959688 21959688 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:21959688A>G uc011kyx.2 + 14 1905 c.1854A>G c.(1852-1854)ccA>ccG p.P618P FAM160B2_uc011kyy.2_Non-coding_Transcript NM_022749 NP_073586 Q86V87 F16B2_HUMAN Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA. 618 endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 TCCTACAGCCATACAGCCTGA 0.602000 37 9 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179569002 179569003 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:179569002_179569003CC>TT uc021vsy.1 - 102 26587_26588 c.26362_26363GG>AA c.(26362-26364)ggt>AAt p.G8788N TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G5449N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9715 Ig-like 70. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P8788P(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTATGTCTACCTTGGGGTTTA 0.416000 96 41 0 0 0.004672 0 0 ADCK2 90956 broad.mit.edu 37 7 140379030 140379031 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:140379030_140379031CC>TT uc003vvy.1 + 2 1334_1335 c.1156_1157CC>TT c.(1156-1158)ccc>TTc p.P386F ADCK2_uc003vvz.3_Missense_Mutation_p.P386F NM_052853 NP_443085 Q7Z695 ADCK2_HUMAN Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA. 386 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) CGTCAAGTTCCCCACCCCTCTG 0.495000 78 123 0 0 0.004672 0 0 COL6A3 1293 broad.mit.edu 37 2 238290040 238290040 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:238290040A>G uc002vwl.2 - 4 1700 c.1415T>C c.(1414-1416)aTc>aCc p.I472T COL6A3_uc002vwo.2_Missense_Mutation_p.I266T|COL6A3_uc010znj.1_Missense_Mutation_p.I65T|COL6A3_uc002vwq.3_Missense_Mutation_p.I266T|COL6A3_uc002vwr.3_Missense_Mutation_p.I65T|COL6A3_uc010znk.1_Missense_Mutation_p.I472T NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 472 Nonhelical region.|VWFA 3. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CAGCCTCTGGATGACTTTAGC 0.473000 44 10 0 0 0.008291 0 0 SRRM2 23524 broad.mit.edu 37 16 2816259 2816259 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:2816259A>G uc002crk.3 + 10 6279 c.5730A>G c.(5728-5730)agA>agG p.R1910R SRRM2_uc002crj.1_Silent_p.R1814R|SRRM2_uc002crl.1_Silent_p.R1910R|SRRM2_uc010bsu.1_Silent_p.R1814R NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 1910 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CTCGACGAAGATCCCGGTCAA 0.582000 48 14 0 0 0.004007 0 0 CYP1A1 1543 broad.mit.edu 37 15 75015004 75015004 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:75015004G>A uc002ayp.4 - 1 557 c.435C>T c.(433-435)ttC>ttT p.F145F CYP1A1_uc010bjy.3_Silent_p.F145F|CYP1A1_uc010bju.3_Intron|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Intron|CYP1A1_uc002ayq.4_Silent_p.F145F|CYP1A1_uc010bjz.1_Intron|CYP1A1_uc021sqk.1_Silent_p.F145F NM_000499 NP_000490 P04798 CP1A1_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA. 145 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) AGGCAATGGAGAAACTTTTCA 0.582000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 95 46 0 0 0.003610 0 0 CXXC5 51523 broad.mit.edu 37 5 139060446 139060446 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:139060446C>T uc010jfg.1 + 1 628 c.338C>T c.(337-339)tCc>tTc p.S113F CXXC5_uc003let.2_Missense_Mutation_p.S113F NM_016463 NP_057547 Q7LFL8 CXXC5_HUMAN Homo sapiens CXXC finger protein 5 (CXXC5), mRNA. 113 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCGCTGCCTCCCTGTTGGCC 0.617000 43 50 0 0 0.003610 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48873912 48873912 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:48873912G>A uc002rwp.2 + 7 2935 c.2821G>A c.(2821-2823)Gaa>Aaa p.E941K STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.E941K|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.E894K|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.E237K|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.E203K NM_172311 NP_758515 B7ZL16 B7ZL16_HUMAN Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA. 894 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) GTGTCATCAGGAAAGTTCTCA 0.413000 50 27 0 0 0.005443 0 0 TSTA3 7264 broad.mit.edu 37 8 144695448 144695448 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:144695448C>T uc003yza.2 - 9 864 c.828G>A c.(826-828)tcG>tcA p.S276S TSTA3_uc003yzb.2_Silent_p.S276S NM_003313 NP_003304 Q13630 FCL_HUMAN Homo sapiens tissue specific transplantation antigen P35B (TSTA3), mRNA. 276 'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|coenzyme binding|electron carrier activity|isomerase activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) NADH(DB00157) ACTGCCCATCCGACTTGGTTG 0.577000 74 14 0 0 0.004007 0 0 MAP3K9 4293 broad.mit.edu 37 14 71199522 71199522 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:71199522T>C uc001xmm.3 - 10 2564 c.2564A>G c.(2563-2565)gAt>gGt p.D855G MAP3K9_uc010ttk.2_Missense_Mutation_p.D583G|MAP3K9_uc001xmk.3_Missense_Mutation_p.D588G|MAP3K9_uc001xml.3_Missense_Mutation_p.D869G NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 855 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GACAATTTCATCGCTGTCGGA 0.602000 34 7 0 0 0.001984 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166836860 166836860 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:166836860C>T uc003qvd.1 - 18 1815 c.1702G>A c.(1702-1704)Gag>Aag p.E568K RPS6KA2_uc011ego.1_Missense_Mutation_p.E454K|RPS6KA2_uc010kkl.1_Missense_Mutation_p.E454K|RPS6KA2_uc003qvb.1_Missense_Mutation_p.E543K|RPS6KA2_uc003qvc.1_Missense_Mutation_p.E551K|RPS6KA2_uc010kkk.1_5'UTR NM_021135 NP_066958 Q15349 KS6A2_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA. 543 Protein kinase 2. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) CTCCCCGACTCATCCCTGTAC 0.597000 14 10 0 0 0.001368 0 0 KRT71 112802 broad.mit.edu 37 12 52940249 52940249 + Silent SNP C A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:52940249C>A uc001sao.3 - 6 1216 c.1146G>T c.(1144-1146)cgG>cgT p.R382R NM_033448 NP_258259 Q3SY84 K2C71_HUMAN Homo sapiens keratin 71 (KRT71), mRNA. 382 Coil 2.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) CGTTGTCTCCCCGCTGCTCAG 0.612000 31 10 2.17888e-05 3.78234e-05 0.006214 1 0 GLB1L2 89944 broad.mit.edu 37 11 134212800 134212800 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:134212800A>G uc001qhp.3 + 1 427 c.239A>G c.(238-240)gAc>gGc p.D80G NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA. 80 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) TACTGGAGGGACCGCCTGCTG 0.617000 42 8 0 0 0.006214 0 0 DDX11L11 0 broad.mit.edu 37 12 92119 92119 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:92119T>C uc010sdi.1 - 1 219 c.191A>G c.(190-192)cAc>cGc p.H64R DDX11L11_uc010sdj.1_Non-coding_Transcript SubName: Full=DEAD/H box polypeptide 11 like 11; CGCCAGGCAGTGGTGCAGCTG 0.592000 21 3 0 0 0.004672 0 0 IL22RA1 58985 broad.mit.edu 37 1 24454758 24454758 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:24454758C>T uc001biq.2 - 4 746 c.543G>A c.(541-543)ggG>ggA p.G181G IL22RA1_uc010oeg.1_Silent_p.G73G|IL22RA1_uc009vrb.2_Silent_p.G45G|IL22RA1_uc010oeh.2_Silent_p.G181G NM_021258 NP_067081 Q8N6P7 I22R1_HUMAN Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA. 181 Fibronectin type-III 2. integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) CTCTCTGCTTCCCTCCAAGGT 0.532000 30 34 0 0 0.004878 0 0 CDH17 1015 broad.mit.edu 37 8 95182692 95182692 + Silent SNP A T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:95182692A>T uc003ygh.2 - 8 1124 c.999T>A c.(997-999)atT>atA p.I333I CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.I333I NM_004063 NP_004054 Q12864 CAD17_HUMAN Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA. 333 Cadherin 3. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GATTATCATTAATATCTTTAA 0.393000 138 17 0 0 0.004007 0 0 INPP5K 51763 broad.mit.edu 37 17 1412538 1412538 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:1412538T>C uc002fsr.3 - 4 877 c.488A>G c.(487-489)cAc>cGc p.H163R INPP5K_uc002fss.3_Missense_Mutation_p.H87R|INPP5K_uc002fsq.3_Missense_Mutation_p.H87R|INPP5K_uc010cjr.3_Missense_Mutation_p.H87R|INPP5K_uc010vql.2_Missense_Mutation_p.H71R|INPP5K_uc010vqm.2_Intron|INPP5K_uc010cjs.2_3'UTR NM_016532 NP_570122 Q9BT40 INP5K_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA. 163 Catalytic (Potential). actin cytoskeleton organization cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding endometrium(1)|large_intestine(7)|lung(3)|skin(1) 12 CCGGTCAAAGTGCTCCAGCCG 0.557000 49 11 0 0 0.008291 0 0 CD300A 11314 broad.mit.edu 37 17 72469917 72469917 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:72469917G>A uc002jkv.3 + 1 604 c.283G>A c.(283-285)Gag>Aag p.E95K CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN Homo sapiens CD300a molecule (CD300A), mRNA. 95 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 GAATCTCACAGAGGAGGATGC 0.562000 53 22 0 0 0.002299 0 0 ZNF733P 643955 broad.mit.edu 37 7 62753192 62753192 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:62753192G>A uc011kdj.2 - 2 244 c.176C>T c.(175-177)tCc>tTc p.S59F Homo sapiens zinc finger protein 479 pseudogene (LOC643955), non-coding RNA. GGTGAAATGGGAATGCGTAAC 0.358000 145 275 0 0 0.003610 0 0 TM9SF2 9375 broad.mit.edu 37 13 100169902 100169902 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr13:100169902C>T uc001voj.1 + 1 339 c.206C>T c.(205-207)tCa>tTa p.S69L TM9SF2_uc010afz.1_Missense_Mutation_p.S69L NM_004800 NP_004791 Q99805 TM9S2_HUMAN Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA. 69 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) AGACTTGATTCAGTGGAATCA 0.323000 24 26 0 0 0.006320 0 0 CPA5 93979 broad.mit.edu 37 7 130002796 130002796 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:130002796C>T uc010lmd.1 + 9 1328 c.708C>T c.(706-708)ctC>ctT p.L236L CPA5_uc003vps.2_Silent_p.L236L|CPA5_uc003vpt.2_Silent_p.L236L|CPA5_uc010lme.1_Silent_p.L236L|CPA5_uc003vpu.1_Silent_p.L236L NM_001127441 NP_525124 Q8WXQ8 CBPA5_HUMAN Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA. 236 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) TCATAGAGCTCGTCACAAACC 0.512000 109 10 0 0 0.008291 0 0 NOL7 51406 broad.mit.edu 37 6 13616734 13616734 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:13616734A>G uc003naz.3 + 2 399 c.367A>G c.(367-369)Acc>Gcc p.T123A NM_016167 NP_057251 Q9UMY1 NOL7_HUMAN Homo sapiens nucleolar protein 7, 27kDa (NOL7), mRNA. 123 mitochondrion|nucleolus breast(1)|large_intestine(3)|lung(1) 5 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.135) Epithelial(50;0.176) GGAGAAGTTAACCACAGCTTC 0.308000 111 13 0 0 0.004990 0 0 PRPF8 10594 broad.mit.edu 37 17 1581892 1581892 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:1581892A>G uc002fte.3 - 12 1888 c.1774T>C c.(1774-1776)Tat>Cat p.Y592H NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA. 592 U5 snRNP|catalytic step 2 spliceosome|nuclear speck RNA binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TTGTATCGATACATGCCCGTC 0.463000 95 51 0 0 0.003610 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38133817 38133817 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:38133817A>G uc003xli.3 - 22 4587 c.4069T>C c.(4069-4071)Tat>Cat p.Y1357H WHSC1L1_uc011lbm.2_Missense_Mutation_p.Y1346H|WHSC1L1_uc010lwe.3_Missense_Mutation_p.Y1308H|WHSC1L1_uc003xlh.3_Missense_Mutation_p.Y136H NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA. 1357 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) AGCTTACCATATGGTGGCTGA 0.443000 T NUP98 AML 14 9 0 0 0.000978 0 0 COL7A1 1294 broad.mit.edu 37 3 48629225 48629225 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:48629225G>A uc003ctz.2 - 10 1389 c.1388C>T c.(1387-1389)cCc>cTc p.P463L NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 463 Fibronectin type-III 3.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CACATCAGAGGGCAGTACCAC 0.632000 12 11 0 0 0.008291 0 0 FDXR 2232 broad.mit.edu 37 17 72862251 72862251 + Splice_Site SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:72862251A>G uc010wrl.2 - 5 723 c.636_splice c.e5+1 p.E212_splice FDXR_uc010wri.2_Splice_Site_p.E117_splice|FDXR_uc010wrj.2_Splice_Site_p.E167_splice|FDXR_uc002jlw.3_Splice_Site|FDXR_uc002jlx.3_Splice_Site_p.E169_splice|FDXR_uc002jly.3_Splice_Site_p.E169_splice|FDXR_uc010wrk.2_Splice_Site_p.E200_splice|FDXR_uc010wrm.2_Splice_Site_p.E129_splice|FDXR_uc002jlz.3_Splice_Site_p.E161_splice|FDXR_uc002jmb.3_Splice_Site NM_024417 NP_077728 P22570 ADRO_HUMAN Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 169 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) CCCCATACTCACCTCCTGGTT 0.657000 43 7 0 0 0.001984 0 0 RGL4 266747 broad.mit.edu 37 22 24036084 24036084 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr22:24036084A>G uc002zxo.3 + 3 2092 c.835A>G c.(835-837)Acc>Gcc p.T279A GUSBP11_uc002zxh.4_5'Flank|GUSBP11_uc002zxi.4_5'Flank|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Missense_Mutation_p.T279A|RGL4_uc002zxp.1_Missense_Mutation_p.T143A|RGL4_uc002zxq.3_Missense_Mutation_p.T143A Q8IZJ4 RGDSR_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA. 279 Ras-GEF. small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15 CTGCATCACCACCTCCTGCCT 0.622000 38 25 0 0 0.003954 0 0 TMEM108 66000 broad.mit.edu 37 3 133098621 133098621 + Silent SNP C G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:133098621C>G uc003epi.3 + 3 336 c.66C>G c.(64-66)acC>acG p.T22T TMEM108_uc003eph.3_Silent_p.T22T|TMEM108_uc003epj.1_Silent_p.T22T|TMEM108_uc003epk.3_Intron NM_001136469 NP_076432 Q6UXF1 TM108_HUMAN Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA. 22 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TGGCACTGACCGAAGCGCTGG 0.552000 275 39 0 0 0.003610 0 0 COL5A1 1289 broad.mit.edu 37 9 137693829 137693830 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:137693829_137693830CC>TT uc004cfe.3 + 37 3364_3365 c.2982_2983CC>TT c.(2980-2985)ggcccc>ggTTcc p.P995S NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 995 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.G997fs*17(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCCCTCCAGGCCCCCCCGGCGT 0.653000 53 14 0 0 0.004672 0 0 POTEG 404785 broad.mit.edu 37 14 19553825 19553825 + Nonsense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:19553825C>T uc001vuz.1 + 0 461 c.409C>T c.(409-411)Cga>Tga p.R137* POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA. 137 p.R136H(1) cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 CCACGTCCGTCGAGAAGATCT 0.577000 155 16 0 0 0.003954 0 0 SLC46A2 57864 broad.mit.edu 37 9 115652281 115652281 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:115652281T>C uc004bgk.3 - 0 913 c.681A>G c.(679-681)ctA>ctG p.L227L NM_033051 NP_149040 Q9BY10 TSCOT_HUMAN Homo sapiens solute carrier family 46, member 2 (SLC46A2), mRNA. 227 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1) 18 CAGGGACCTTTAGCACCAAAA 0.607000 20 9 0 0 0.000978 0 0 BCR 613 broad.mit.edu 37 22 23524006 23524006 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr22:23524006A>G uc002zww.3 + 0 1455 c.859A>G c.(859-861)Atg>Gtg p.M287V BCR_uc002zwx.3_Missense_Mutation_p.M287V NM_004327 NP_004318 P11274 BCR_HUMAN Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA. 287 Binding to ABL SH2-domain.|Kinase. M -> I (in Ref. 1; CAA68676). regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 CGTCGGGGGCATGATGGAAGG 0.672000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 20 5 0 0 0.000602 0 0 UBAP2 55833 broad.mit.edu 37 9 33923820 33923820 + Missense_Mutation SNP A T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:33923820A>T uc003ztq.1 - 23 2882 c.2769T>A c.(2767-2769)agT>agA p.S923R UBAP2_uc011loc.1_Missense_Mutation_p.S832R|UBAP2_uc011lod.1_Missense_Mutation_p.S656R|UBAP2_uc011loe.1_Missense_Mutation_p.S678R|UBAP2_uc011lof.1_Missense_Mutation_p.S848R|UBAP2_uc003ztn.1_Missense_Mutation_p.S162R|UBAP2_uc003zto.1_Missense_Mutation_p.S162R|UBAP2_uc003ztp.2_Missense_Mutation_p.S162R NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA. 923 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) ACTGGAAGGCACTGGGCATGC 0.557000 80 5 0 0 0.000602 0 0 ZC3H14 79882 broad.mit.edu 37 14 89034463 89034463 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:89034463T>C uc001xww.3 + 2 385 c.160T>C c.(160-162)Ttt>Ctt p.F54L ZC3H14_uc010twd.2_Missense_Mutation_p.F54L|ZC3H14_uc010twe.2_Missense_Mutation_p.F54L|ZC3H14_uc001xwx.3_Missense_Mutation_p.F54L|ZC3H14_uc010twf.2_5'UTR|ZC3H14_uc001xwy.3_Missense_Mutation_p.F20L NM_024824 NP_079100 Q6PJT7 ZC3HE_HUMAN Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA. 54 cytoplasm|nuclear speck RNA binding|protein binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 TCTGTCCCTGTTTCTAGGGAA 0.408000 25 6 0 0 0.003080 0 0 DUSP13 51207 broad.mit.edu 37 10 76854536 76854536 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:76854536G>A uc001jwr.3 - 3 558 c.495C>T c.(493-495)atC>atT p.I165I DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Silent_p.I258I|DUSP13_uc001jww.3_Silent_p.I215I|DUSP13_uc009xrs.3_Silent_p.I258I|DUSP13_uc001jwt.3_Silent_p.I258I|DUSP13_uc001jwv.3_Silent_p.I165I NM_016364 NP_057448 Q6B8I1 MDSP_HUMAN Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA. 156 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) GCACCGTCTGGATGGCCTCTA 0.622000 16 18 0 0 0.004990 0 0 LIPE 3991 broad.mit.edu 37 19 42930869 42930869 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:42930869C>T uc002otr.3 - 0 710 c.433G>A c.(433-435)Gag>Aag p.E145K AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank NM_005357 NP_005348 Q05469 LIPS_HUMAN Homo sapiens lipase, hormone-sensitive (LIPE), mRNA. 145 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) GGAGGTGGCTCTCCTGGCCCA 0.567000 29 32 0 0 0.001786 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99325641 99325641 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:99325641A>G uc003htw.4 + 6 844 c.654A>G c.(652-654)gaA>gaG p.E218E RAP1GDS1_uc003htx.4_Silent_p.E217E|RAP1GDS1_uc003htv.4_Silent_p.E218E|RAP1GDS1_uc003htz.4_Silent_p.E168E|RAP1GDS1_uc003hty.4_Silent_p.E169E|RAP1GDS1_uc003hua.4_Silent_p.E126E NM_001100426 NP_001093896 P52306 GDS1_HUMAN Homo sapiens RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1), transcript variant 1, mRNA. 217 GTPase activator activity|binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) CAAGTAAAGAACAGTTTGCCA 0.289000 T NUP98 T-ALL 62 8 0 0 0.003080 0 0 ABHD10 55347 broad.mit.edu 37 3 111710464 111710464 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:111710464C>T uc003dyk.4 + 4 898 c.817C>T c.(817-819)Ctc>Ttc p.L273F ABHD10_uc011bhq.2_Missense_Mutation_p.L116F NM_018394 NP_060864 Q9NUJ1 ABHDA_HUMAN Homo sapiens abhydrolase domain containing 10 (ABHD10), mRNA. 273 mitochondrion serine-type peptidase activity large_intestine(2)|lung(7)|skin(1) 10 GGATGTCATCCTCCGAAAACA 0.418000 69 21 0 0 0.001882 0 0 PLCE1 51196 broad.mit.edu 37 10 95791712 95791712 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:95791712C>T uc001kjk.3 + 1 1543 c.909C>T c.(907-909)ttC>ttT p.F303F PLCE1_uc010qnx.2_Silent_p.F303F NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 303 Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction Golgi membrane|cytosol|membrane fraction|plasma membrane Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TTGAGGACTTCCCTGATAATT 0.388000 50 58 0 0 0.003610 0 0 OPALIN 93377 broad.mit.edu 37 10 98109573 98109573 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:98109573G>A uc001kmj.3 - 3 522 c.83C>T c.(82-84)cCc>cTc p.P28L OPALIN_uc010qor.2_Missense_Mutation_p.P18L|OPALIN_uc001kmi.3_Missense_Mutation_p.P18L|OPALIN_uc001kmk.3_Missense_Mutation_p.P5L|OPALIN_uc010qos.2_Non-coding_Transcript NM_033207 NP_149984 Q96PE5 OPALI_HUMAN Homo sapiens oligodendrocytic myelin paranodal and inner loop protein (OPALIN), transcript variant 1, mRNA. 28 Golgi apparatus|integral to membrane|plasma membrane breast(1)|large_intestine(1)|lung(5)|prostate(2) 9 TCCAAGAGAGGGCCCACAGTC 0.438000 10 16 0 0 0.008871 0 0 GBA2 57704 broad.mit.edu 37 9 35738893 35738893 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:35738893T>C uc011lpd.2 - 12 2320 c.1821A>G c.(1819-1821)gaA>gaG p.E607E GBA2_uc003zxw.3_Silent_p.E601E|GBA2_uc003zxx.1_5'Flank|GBA2_uc011lpb.1_Silent_p.E601E|GBA2_uc011lpc.1_Silent_p.E601E|GBA2_uc003zxy.1_Silent_p.E314E NM_020944 NP_065995 Q9HCG7 GBA2_HUMAN Homo sapiens glucosidase, beta (bile acid) 2 (GBA2), mRNA. 601 O-glycoside catabolic process|bile acid metabolic process|glucosylceramide catabolic process integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum beta-glucosidase activity|glucosylceramidase activity NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3) 21 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GGAGCCATGGTTCATCATCTG 0.502000 41 8 0 0 0.003080 0 0 ATP2A2 488 broad.mit.edu 37 12 110784264 110784264 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:110784264T>C uc001tqk.4 + 19 3681 c.3118T>C c.(3118-3120)Ttc>Ctc p.F1040L ATP2A2_uc001tql.4_Intron|ATP2A2_uc021rdt.1_Missense_Mutation_p.F888L|ATP2A2_uc001tqn.4_Missense_Mutation_p.F117L|ATP2A2_uc009zvn.3_Intron NM_170665 NP_733765 P16615 AT2A2_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA. 1040 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TAGCGATATGTTCTGGTCTTG 0.393000 38 13 0 0 0.004990 0 0 SPATA16 83893 broad.mit.edu 37 3 172835088 172835088 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:172835088G>A uc003fin.4 - 1 618 c.434C>T c.(433-435)tCt>tTt p.S145F NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA. 145 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) ACTCCCAGTAGACATGAAGGA 0.428000 53 24 0 0 0.003954 0 0 GTF2IRD2 84163 broad.mit.edu 37 7 74211830 74211830 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:74211830A>G uc003ubd.1 - 15 2205 c.2021T>C c.(2020-2022)gTa>gCa p.V674A GTF2IRD2_uc010lbt.1_Missense_Mutation_p.V221A NM_173537 NP_775808 Q86UP8 GTD2A_HUMAN Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA. 674 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1) 11 ggacttcactaccacgtccat 0.507000 109 5 0 0 0.001368 0 0 GOLGA4 2803 broad.mit.edu 37 3 37368810 37368810 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:37368810A>G uc003cgv.3 + 13 5793 c.5433A>G c.(5431-5433)atA>atG p.I1811M GOLGA4_uc010hgr.2_Missense_Mutation_p.I1372M|GOLGA4_uc003cgw.3_Missense_Mutation_p.I1833M|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.I1692M NM_002078 NP_002069 Q13439 GOGA4_HUMAN Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA. 1811 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 ATTCCTTGATAGTAGCCCAGC 0.388000 74 5 0 0 0.000602 0 0 DOPEY2 9980 broad.mit.edu 37 21 37617664 37617664 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr21:37617664C>T uc002yvg.3 + 18 3465 c.3386C>T c.(3385-3387)tCc>tTc p.S1129F DOPEY2_uc011aeb.2_Missense_Mutation_p.S1078F|DOPEY2_uc002yvh.3_5'UTR NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN Homo sapiens dopey family member 2 (DOPEY2), mRNA. 1129 Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TCCTCCTTCTCCTCCCCTTCC 0.662000 46 20 0 0 0.008871 0 0 P4HB 5034 broad.mit.edu 37 17 79805189 79805189 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:79805189A>G uc002kbn.1 - 4 856 c.659T>C c.(658-660)gTc>gCc p.V220A P4HB_uc002kbl.1_5'UTR|P4HB_uc002kbm.1_5'UTR NM_000918 NP_000909 P07237 PDIA1_HUMAN Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA. 220 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) CTCCTTGGTGACCTCCCCTTC 0.602000 74 11 0 0 0.001855 0 0 APBB1 322 broad.mit.edu 37 11 6425049 6425049 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:6425049G>A uc001mdb.1 - 2 825 c.725C>T c.(724-726)tCc>tTc p.S242F APBB1_uc001mdd.3_Missense_Mutation_p.S22F|APBB1_uc001mdc.1_Missense_Mutation_p.S242F|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_5'Flank|APBB1_uc010rae.1_Missense_Mutation_p.S7F|APBB1_uc009yey.2_5'UTR|APBB1_uc009yfa.2_5'UTR|APBB1_uc010rag.1_5'UTR|APBB1_uc009yfb.2_5'UTR|APBB1_uc001mde.2_5'UTR|APBB1_uc010rah.1_5'UTR NM_001164 NP_001155 O00213 APBB1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA. 242 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.S242F(2) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GTTCCAGAAGGAATCTGCCAG 0.602000 17 11 0 0 0.001368 0 0 PDIA3 2923 broad.mit.edu 37 15 44055313 44055313 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:44055313T>C uc001zsu.3 + 4 659 c.511T>C c.(511-513)Ttc>Ctc p.F171L PDIA3_uc010bdp.3_Missense_Mutation_p.F151L|PDIA3_uc010ued.2_5'UTR NM_005313 NP_005304 P30101 PDIA3_HUMAN Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA. 171 cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein import into nucleus|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1) 17 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) TCACTCCGAGTTCCTAAAAGC 0.403000 51 17 0 0 0.004007 0 0 OASL 8638 broad.mit.edu 37 12 121469308 121469308 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:121469308G>A uc001tzj.1 - 2 600 c.594C>T c.(592-594)ttC>ttT p.F198F OASL_uc001tzk.1_Silent_p.F198F NM_003733 NP_003724 Q15646 OASL_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA. 198 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GATGTTTCACGAAATTTCTCT 0.587000 216 119 0 0 0.003610 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39182924 39182924 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:39182924A>G uc002hvu.3 - 0 531 c.484T>C c.(484-486)Tcc>Ccc p.S162P NM_031957 NP_114163 Q9BYS1 KRA15_HUMAN Homo sapiens keratin associated protein 1-5 (KRTAP1-5), mRNA. 162 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) CGGCAGCAGGACTGTCCACAG 0.592000 95 19 0 0 0.007413 0 0 SCN5A 6331 broad.mit.edu 37 3 38662413 38662413 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:38662413C>T uc021wvo.1 - 3 584 c.532G>A c.(532-534)Gct>Act p.A178T SCN5A_uc021wvk.1_Missense_Mutation_p.A178T|SCN5A_uc021wvl.1_Missense_Mutation_p.A178T|SCN5A_uc021wvm.1_Missense_Mutation_p.A178T|SCN5A_uc021wvn.1_Missense_Mutation_p.A178T|SCN5A_uc021wvp.1_Missense_Mutation_p.A178T|SCN5A_uc021wvq.1_Missense_Mutation_p.A178T|SCN5A_uc021wvr.1_Missense_Mutation_p.A178T|SCN5A_uc021wvs.1_Missense_Mutation_p.A178T|SCN5A_uc021wvt.1_Missense_Mutation_p.A178T|SCN5A_uc021wvu.1_Missense_Mutation_p.A178T|SCN5A_uc021wvv.1_Missense_Mutation_p.A178T|SCN5A_uc021wvj.1_Missense_Mutation_p.A44T|SCN5A_uc021wvi.1_Missense_Mutation_p.A44T|SCN5A_uc010hhl.1_Intron NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 178 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AAGCCTCGAGCCAGAATCTTG 0.542000 21 11 0 0 0.001368 0 0 ATL2 64225 broad.mit.edu 37 2 38525630 38525630 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:38525630G>A uc002rqq.3 - 11 1318 c.1288C>T c.(1288-1290)Cgt>Tgt p.R430C ATL2_uc010ynm.2_Missense_Mutation_p.R412C|ATL2_uc010ynn.2_Missense_Mutation_p.R412C|ATL2_uc010yno.2_Missense_Mutation_p.R259C|ATL2_uc002rqr.3_Missense_Mutation_p.R259C|ATL2_uc002rqs.3_Missense_Mutation_p.R430C NM_001135673 NP_001129145 Q8NHH9 ATLA2_HUMAN Homo sapiens atlastin GTPase 2 (ATL2), transcript variant 2, mRNA. 430 Golgi organization|endoplasmic reticulum organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 TTTACTGAACGAAATTGTTTT 0.428000 99 51 0 0 0.003610 0 0 OR4N5 390437 broad.mit.edu 37 14 20612527 20612527 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:20612527C>T uc010tla.2 + 0 633 c.633C>T c.(631-633)ttC>ttT p.F211F NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TCCTGTGCTTCCTGGGCCTTC 0.527000 33 20 0 0 0.008871 0 0 ANTXR1 84168 broad.mit.edu 37 2 69409703 69409703 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:69409703G>A uc002sfg.3 + 15 1620 c.1264G>A c.(1264-1266)Gag>Aag p.E422K NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA. 422 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 CAAGATGCCGGAGCAGGAATA 0.463000 Familial Infantile Hemangioma 74 33 0 0 0.003755 0 0 FAM134A 79137 broad.mit.edu 37 2 220047320 220047320 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:220047320A>G uc002vjw.4 + 8 1737 c.1601A>G c.(1600-1602)gAc>gGc p.D534G FAM134A_uc010fwc.3_Missense_Mutation_p.D327G|FAM134A_uc002vjx.3_Missense_Mutation_p.D292G NM_024293 NP_077269 Q8NC44 F134A_HUMAN Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA. 534 endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTACAGTCAGACCAAGAAGCT 0.602000 59 9 0 0 0.006214 0 0 OTOGL 283310 broad.mit.edu 37 12 80632729 80632729 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:80632729C>T uc001szd.3 + 8 895 c.889C>T c.(889-891)Ccg>Tcg p.P297S NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTTTCCAAATCCGTGCTCCAG 0.393000 16 10 0 0 0.008291 0 0 ESYT2 57488 broad.mit.edu 37 7 158560404 158560404 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:158560404T>C uc003woc.1 - 7 720 c.481A>G c.(481-483)Atc>Gtc p.I161V ESYT2_uc003wob.1_Missense_Mutation_p.I337V|ESYT2_uc003wod.1_Missense_Mutation_p.I337V NM_020728 NP_065779 A0FGR8 ESYT2_HUMAN Homo sapiens extended synaptotagmin-like protein 2 (ESYT2), mRNA. 365 integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 GGAACGGTGATTCGATTGGGA 0.403000 120 9 0 0 0.004482 0 0 KRT72 140807 broad.mit.edu 37 12 52985259 52985259 + Missense_Mutation SNP A T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:52985259A>T uc001sar.2 - 4 1038 c.952T>A c.(952-954)Tac>Aac p.Y318N KRT72_uc001saq.2_Missense_Mutation_p.Y318N|KRT72_uc010sns.1_Missense_Mutation_p.Y318N|KRT72_uc010snt.1_Missense_Mutation_p.Y130N NM_001146225 NP_542785 Q14CN4 K2C72_HUMAN Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA. 318 Coil 2.|Rod. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) TTGGTCTGGTACAGGGTCTCA 0.582000 25 6 0 0 0.001984 0 0 CHRND 1144 broad.mit.edu 37 2 233396253 233396253 + Splice_Site SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:233396253T>C uc002vsw.3 + 9 937 c.933_splice c.e9-1 p.K311_splice CHRND_uc021vyi.1_Splice_Site|CHRND_uc010zmg.2_Splice_Site_p.K296_splice|CHRND_uc010zmh.2_Splice_Site_p.K117_splice NM_000751 NP_000742 Q07001 ACHD_HUMAN Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA. 311 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) TGCCCACAGGTTCCTGCTCTT 0.597000 113 21 0 0 0.001523 0 0 C7orf34 135927 broad.mit.edu 37 7 142637463 142637463 + Missense_Mutation SNP A C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:142637463A>C uc003wca.2 + 1 274 c.233A>C c.(232-234)gAg>gCg p.E78A NM_178829 NP_849151 Q96L11 CG034_HUMAN Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA. 53 extracellular region p.S77S(1) large_intestine(1)|lung(4) 5 Melanoma(164;0.059) CAGTTCGAAGAGCACTTTGTG 0.532000 137 7 0 0 0.003080 0 0 WDR48 57599 broad.mit.edu 37 3 39108073 39108073 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:39108073A>G uc003cit.3 + 3 313 c.303A>G c.(301-303)gtA>gtG p.V101V WDR48_uc011ayt.1_Silent_p.V92V|WDR48_uc011ayu.1_Silent_p.V19V|WDR48_uc011ayv.1_Intron|WDR48_uc003ciu.3_Non-coding_Transcript NM_020839 NP_065890 Q8TAF3 WDR48_HUMAN Homo sapiens WD repeat domain 48 (WDR48), mRNA. 101 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding p.V101V(2) breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CAGTAAAAGTATGGAATGCAC 0.333000 43 8 0 0 0.008291 0 0 HOXA3 3200 broad.mit.edu 37 7 27148097 27148097 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:27148097T>C uc011jzl.2 - 2 969 c.769A>G c.(769-771)Acg>Gcg p.T257A HOXA3_uc003syk.3_Missense_Mutation_p.T257A NM_030661 NP_705895 O43365 HXA3_HUMAN Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA. 257 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 CCCGATGACGTTAGCATGCCC 0.572000 92 11 0 0 0.000978 0 0 L32131 0 broad.mit.edu 37 17 58512636 58512636 + RNA SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:58512636C>T uc002iyr.1 - 0 c.722G>A Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12. TCCCTTTTTCCCTTTGGGTAC 0.502000 11 3 0 0 0.004672 0 0 BRD1 23774 broad.mit.edu 37 22 50216618 50216618 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr22:50216618G>A uc011arg.2 - 0 1362 c.1348C>T c.(1348-1350)Cct>Tct p.P450S BRD1_uc011arf.2_5'UTR|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.P450S|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.P450S NM_014577 NP_055392 O95696 BRD1_HUMAN Homo sapiens bromodomain containing 1 (BRD1), mRNA. 430 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GGAATATAAGGAGCGCACACG 0.597000 68 41 0 0 0.002222 0 0 TIGD5 84948 broad.mit.edu 37 8 144681449 144681449 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:144681449A>G uc003yyx.2 + 0 1376 c.1376A>G c.(1375-1377)tAc>tGc p.Y459C EEF1D_uc011lki.2_5'Flank|EEF1D_uc003yyv.3_5'Flank|EEF1D_uc003yyu.3_5'Flank|EEF1D_uc011lkk.2_5'Flank|EEF1D_uc003yyt.3_5'Flank|EEF1D_uc003yyr.3_5'Flank|EEF1D_uc003yys.3_5'Flank|EEF1D_uc011lkl.2_5'Flank NM_032862 NP_116251 E7EWS2 E7EWS2_HUMAN Homo sapiens tigger transposable element derived 5 (TIGD5), mRNA. 459 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 7 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GACATGCTCTACCTGGCTGGC 0.677000 29 6 0 0 0.001168 0 0 ZNF735 730291 broad.mit.edu 37 7 63680547 63680547 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:63680547G>A uc011kdn.2 + 3 1118 c.1118G>A c.(1117-1119)aGa>aAa p.R373K NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN Homo sapiens zinc finger protein 735 (ZNF735), mRNA. 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GCACATAAGAGAATTCATACT 0.373000 25 5 0 0 0.000602 0 0 FBXW11 23291 broad.mit.edu 37 5 171327049 171327049 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:171327049A>G uc003mbm.1 - 3 800 c.429T>C c.(427-429)tcT>tcC p.S143S FBXW11_uc011dey.1_Silent_p.S111S|FBXW11_uc003mbl.1_Silent_p.S130S|FBXW11_uc003mbn.1_Silent_p.S109S NM_012300 NP_036432 Q9UKB1 FBW1B_HUMAN Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA. 143 F-box. SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway|cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process SCF ubiquitin ligase complex|centrosome|cytosol|nucleus protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 21 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTGCACACAGAGACCTGGCAT 0.458000 113 61 0 0 0.003610 0 0 SCN4A 6329 broad.mit.edu 37 17 62022736 62022736 + Missense_Mutation SNP A C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:62022736A>C uc002jds.1 - 18 3781 c.3704T>G c.(3703-3705)cTc>cGc p.L1235R NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 1235 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) CAGGAGGGAGAGGTAGCCCAG 0.617000 37 6 0 0 0.001168 0 0 KIAA1109 84162 broad.mit.edu 37 4 123192262 123192262 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:123192262C>T uc003ieh.3 + 44 7628 c.7583C>T c.(7582-7584)tCc>tTc p.S2528F KIAA1109_uc003iel.1_Missense_Mutation_p.S463F|KIAA1109_uc003iek.2_Missense_Mutation_p.S1147F NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 2528 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 ATGGAAAAGTCCGTGTGCACC 0.438000 81 19 0 0 0.006122 0 0 CDH7 1005 broad.mit.edu 37 18 63481720 63481720 + Splice_Site SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr18:63481720G>A uc002lkb.3 + 4 932 c.506_splice c.e4-1 p.G169_splice CDH7_uc002ljz.3_Splice_Site_p.G169_splice|CDH7_uc002lka.3_Splice_Site_p.G169_splice NM_004361 NP_387450 Q9ULB5 CADH7_HUMAN Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA. 169 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TTGGCATCTAGGGACCTCAGT 0.408000 61 34 0 0 0.006999 0 0 OR10Q1 219960 broad.mit.edu 37 11 57996058 57996058 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:57996058G>A uc010rkd.2 - 0 333 c.290C>T c.(289-291)tCg>tTg p.S97L NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA. 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) TCCAGCCAACGAAATGGGCTT 0.522000 12 13 0 0 0.001855 0 0 LRIT3 345193 broad.mit.edu 37 4 110788811 110788812 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:110788811_110788812CC>TT uc003hzx.4 + 1 662_663 c.469_470CC>TT c.(469-471)cct>TTt p.P157F LRIT3_uc003hzw.4_Missense_Mutation_p.P19F NM_198506 NP_940908 Q3SXY7 LRIT3_HUMAN Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA. 157 LRRCT. integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) ACAGGACAATCCTTGGTTCTGT 0.421000 22 19 0 0 0.004672 0 0 NPHS1 4868 broad.mit.edu 37 19 36330311 36330311 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:36330311G>A uc002oby.3 - 21 3093 c.2937C>T c.(2935-2937)gcC>gcT p.A979A NPHS1_uc010eem.1_Non-coding_Transcript NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 979 Fibronectin type-III. 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) GAGTCCCCAGGGCCTCATACC 0.577000 33 14 0 0 0.004007 0 0 CDC5L 988 broad.mit.edu 37 6 44374129 44374129 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:44374129A>G uc003oxl.3 + 6 1138 c.828A>G c.(826-828)ccA>ccG p.P276P NM_001253 NP_001244 Q99459 CDC5L_HUMAN Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA. 276 Interaction with PPP1R8. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTGATTTACCATCAGCTATTC 0.323000 108 19 0 0 0.007413 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110498990 110498990 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:110498990G>A uc003yne.3 + 58 9924 c.9820G>A c.(9820-9822)Gac>Aac p.D3274N NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 3274 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTGGTCTGAGGACTCTTTTGG 0.413000 HNSCC(38;0.096) 161 150 0 0 0.003610 0 0 CSDE1 7812 broad.mit.edu 37 1 115272916 115272916 + Missense_Mutation SNP T C C rs149300730 TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:115272916T>C uc001efi.3 - 12 1979 c.1457A>G c.(1456-1458)aAt>aGt p.N486S CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.N440S|CSDE1_uc001efm.3_Missense_Mutation_p.N455S|CSDE1_uc009wgv.3_Missense_Mutation_p.N440S|CSDE1_uc001efl.3_Missense_Mutation_p.N409S|CSDE1_uc001efn.3_Missense_Mutation_p.N409S NM_001242891 NP_001229820 O75534 CSDE1_HUMAN Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA. 440 CSD 6. male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|RNA binding|protein binding p.I485M(1) NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-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) GGTTTTAGGATTGGAAAAAGT 0.388000 109 14 0 0 0.002450 0 0 IL20RA 53832 broad.mit.edu 37 6 137322980 137322981 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:137322980_137322981GG>AA uc003qhj.3 - 6 1809_1810 c.1376_1377CC>TT c.(1375-1377)ccc>cTT p.P459L IL20RA_uc011edl.2_Missense_Mutation_p.P410L|IL20RA_uc003qhk.3_Missense_Mutation_p.P348L|IL20RA_uc003qhi.3_Missense_Mutation_p.P191L NM_014432 NP_055247 Q9UHF4 I20RA_HUMAN Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA. 459 integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) CCTGCGCCAGGGGGTCTAAGTC 0.584000 33 20 0 0 0.004672 0 0 CCR3 1232 broad.mit.edu 37 3 46306942 46306942 + Missense_Mutation SNP A C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:46306942A>C uc003cpl.2 + 2 1423 c.392A>C c.(391-393)aAc>aCc p.N131T CCR3_uc003cpg.2_Missense_Mutation_p.N98T|CCR3_uc003cpk.2_Missense_Mutation_p.N119T|CCR3_uc003cpi.2_Missense_Mutation_p.N98T|CCR3_uc010hjb.2_Missense_Mutation_p.N116T|CCR3_uc003cpj.2_Missense_Mutation_p.N98T|CCR3_uc021wwz.1_Missense_Mutation_p.N98T NM_178329 NP_847899 P51677 CCR3_HUMAN Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA. 98 G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) AGGGGGCATAACTGGGTTTTT 0.493000 148 83 0 0 0.003610 0 0 ATAD2 29028 broad.mit.edu 37 8 124357152 124357152 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:124357152T>C uc003yqh.4 - 18 2798 c.2690A>G c.(2689-2691)gAc>gGc p.D897G ATAD2_uc011lii.2_Missense_Mutation_p.D688G|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.D897G NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA. 897 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) ATGGGGTTTGTCAGAAGTTGC 0.378000 115 28 0 0 0.006320 0 0 ATP5C1 509 broad.mit.edu 37 10 7841005 7841005 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:7841005C>T uc001iju.3 + 3 354 c.276C>T c.(274-276)ctC>ctT p.L92L ATP5C1_uc010qbb.2_Silent_p.L92L|ATP5C1_uc009xiq.1_Silent_p.L92L|ATP5C1_uc010qbc.1_Silent_p.L43L|ATP5C1_uc001ijv.3_Silent_p.L92L NM_001001973 NP_001001973 P36542 ATPG_HUMAN Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 (ATP5C1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 92 oxidative phosphorylation|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 16 AGAAACACCTCCTTATTGGTG 0.398000 58 45 0 0 0.003610 0 0 PDE8A 5151 broad.mit.edu 37 15 85657157 85657157 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:85657157A>G uc002blh.3 + 13 1428 c.1239A>G c.(1237-1239)gaA>gaG p.E413E PDE8A_uc021stv.1_Silent_p.E341E|PDE8A_uc002bli.3_Silent_p.E367E|PDE8A_uc010bnc.3_Silent_p.E166E|PDE8A_uc010bnd.3_Silent_p.E166E|PDE8A_uc002blj.3_Silent_p.E33E|PDE8A_uc002blk.3_Silent_p.E33E NM_002605 NP_001230066 O60658 PDE8A_HUMAN Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA. 413 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) CTGTGACAGAAGCCCTAGACC 0.413000 67 12 0 0 0.002450 0 0 LMAN1L 79748 broad.mit.edu 37 15 75105363 75105363 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:75105363T>C uc002ayt.1 + 0 170 c.168T>C c.(166-168)caT>caC p.H56H LMAN1L_uc010bkd.2_5'UTR|LMAN1L_uc010ulo.1_5'UTR|LMAN1L_uc010bke.1_Silent_p.H56H NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA. 56 L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCTGGAGCCATCATGGAGGTG 0.607000 55 13 0 0 0.001368 0 0 USH2A 7399 broad.mit.edu 37 1 215847853 215847853 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:215847853G>A uc001hku.1 - 62 13787 c.13400C>T c.(13399-13401)cCa>cTa p.P4467L NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 4467 Fibronectin type-III 30. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.P4467Q(2) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGGGTTTCTTGGAGGTTTCCA 0.453000 HNSCC(13;0.011) 180 36 0 0 0.006230 0 0 SSX9 280660 broad.mit.edu 37 X 48163708 48163708 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrX:48163708G>A uc022bvu.1 - 1 140 c.138C>T c.(136-138)atC>atT p.I46I RecName: Full=Protein SSX9; breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 ACACATAGATGATTTTCTCCG 0.378000 10 26 0 0 0.005443 0 0 CELSR1 9620 broad.mit.edu 37 22 46929665 46929665 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr22:46929665A>G uc003bhw.1 - 0 3403 c.3403T>C c.(3403-3405)Tca>Cca p.S1135P NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA. 1135 Cadherin 9. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGGCTGTCTGACACGTCGGGG 0.617000 56 12 0 0 0.000978 0 0 ANK3 288 broad.mit.edu 37 10 61829894 61829894 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:61829894G>A uc001jky.3 - 36 11083 c.10745C>T c.(10744-10746)aCa>aTa p.T3582I ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 3582 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGCTGGCGTTGTATCAGGGGT 0.488000 50 13 0 0 0.001368 0 0 GGA3 23163 broad.mit.edu 37 17 73238472 73238472 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:73238472A>G uc002jni.2 - 7 731 c.692T>C c.(691-693)aTg>aCg p.M231T GGA3_uc002jnk.2_Missense_Mutation_p.M159T|GGA3_uc002jnj.2_Missense_Mutation_p.M198T|GGA3_uc010wry.2_Missense_Mutation_p.M159T|GGA3_uc010wrw.2_Missense_Mutation_p.M109T|GGA3_uc010wrx.2_Missense_Mutation_p.M109T|GGA3_uc010wrz.2_3'UTR NM_138619 NP_619525 Q9NZ52 GGA3_HUMAN Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA. 231 Binds to ARF1 (in long isoform).|GAT. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) ATGAAGCAGCATCTCACTGAG 0.592000 158 29 0 0 0.001786 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904344 73904344 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:73904344C>T uc011dyh.2 + 14 2410 c.2063C>T c.(2062-2064)tCc>tTc p.S688F KCNQ5_uc011dyi.2_Missense_Mutation_p.S679F|KCNQ5_uc010kat.3_Missense_Mutation_p.S660F|KCNQ5_uc003pgk.3_Missense_Mutation_p.S669F|KCNQ5_uc011dyj.2_Missense_Mutation_p.S559F|KCNQ5_uc011dyk.2_Missense_Mutation_p.S419F NM_001160133 NP_001153605 Q9NR82 KCNQ5_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA. 669 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CTTTCGGGTTCCGCACAAAAC 0.493000 88 42 0 0 0.003214 0 0 BMPER 168667 broad.mit.edu 37 7 34192847 34192847 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:34192847G>A uc011kap.2 + 15 2394 c.2020G>A c.(2020-2022)Gga>Aga p.G674R NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN Homo sapiens BMP binding endothelial regulator (BMPER), mRNA. 674 TIL. 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 CCTTCACAAGGGAAGGTGCAT 0.507000 82 42 0 0 0.003610 0 0 SLC29A1 2030 broad.mit.edu 37 6 44197336 44197336 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:44197336A>G uc003oww.1 + 4 551 c.359A>G c.(358-360)aAc>aGc p.N120S SLC29A1_uc021yzw.1_Missense_Mutation_p.N41S|SLC29A1_uc011dvp.1_Missense_Mutation_p.N60S|SLC29A1_uc003owu.1_Missense_Mutation_p.N41S|SLC29A1_uc003owv.1_Missense_Mutation_p.N41S|SLC29A1_uc011dvq.1_Missense_Mutation_p.N83S|SLC29A1_uc003owx.1_Missense_Mutation_p.N41S|SLC29A1_uc003owy.1_Missense_Mutation_p.N41S|SLC29A1_uc003owz.1_Missense_Mutation_p.N41S|SLC29A1_uc021yzx.1_Missense_Mutation_p.N41S NM_004955 NP_004946 Q99808 S29A1_HUMAN Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA. 41 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) tatttcacaAACCGCCTGGAC 0.582000 49 4 0 0 0.000248 0 0 DAG1 1605 broad.mit.edu 37 3 49570436 49570436 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:49570436A>G uc021wxz.1 + 2 2961 c.2492A>G c.(2491-2493)tAc>tGc p.Y831C DAG1_uc021wya.1_Missense_Mutation_p.Y831C|DAG1_uc021wyb.1_Missense_Mutation_p.Y831C|DAG1_uc021wyc.1_Missense_Mutation_p.Y831C|DAG1_uc021wyd.1_Missense_Mutation_p.Y831C|DAG1_uc021wye.1_Missense_Mutation_p.Y831C|DAG1_uc021wyf.1_Missense_Mutation_p.Y831C|DAG1_uc021wyg.1_Missense_Mutation_p.Y831C|DAG1_uc021wyh.1_Missense_Mutation_p.Y831C|DAG1_uc021wyi.1_Missense_Mutation_p.Y831C|DAG1_uc021wyj.1_Missense_Mutation_p.Y831C|DAG1_uc021wyk.1_Missense_Mutation_p.Y831C|DAG1_uc003cxc.4_Missense_Mutation_p.Y831C NM_001177643 NP_001171114 Q14118 DAG1_HUMAN Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA. 831 Pro-rich.|Required for interaction with CAV3. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CCTCCTGAGTACCCCAACCAG 0.607000 20 6 0 0 0.001168 0 0 WNT9B 7484 broad.mit.edu 37 17 44952552 44952552 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:44952552G>A uc002ikw.1 + 2 457 c.420G>A c.(418-420)atG>atA p.M140I WNT9B_uc002ikx.1_Missense_Mutation_p.M140I NM_003396 NP_003387 O14905 WNT9B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA. 140 Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|extracellular matrix structural constituent large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) CTGGGCGCATGGAGCGCTGCA 0.657000 73 42 0 0 0.008740 0 0 IL17RD 54756 broad.mit.edu 37 3 57143644 57143644 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:57143644C>T uc003dil.3 - 4 560 c.471G>A c.(469-471)acG>acA p.T157T IL17RD_uc003dik.3_Silent_p.T133T|IL17RD_uc010hna.3_Silent_p.T13T|IL17RD_uc011bex.1_Silent_p.T13T NM_017563 NP_060033 Q8NFM7 I17RD_HUMAN Homo sapiens interleukin 17 receptor D (IL17RD), mRNA. 157 Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) CGAAATAATCCGTTTCAAATT 0.413000 38 26 0 0 0.003330 0 0 DHX40 79665 broad.mit.edu 37 17 57644043 57644043 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:57644043G>A uc002ixn.2 + 1 315 c.168G>A c.(166-168)caG>caA p.Q56Q DHX40_uc010woe.2_Silent_p.Q56Q|DHX40_uc002ixo.1_5'UTR NM_024612 NP_078888 Q8IX18 DHX40_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA. 56 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) TTCCTATTCAGAAACAAAGAA 0.353000 32 15 0 0 0.002450 0 0 SCRIB 23513 broad.mit.edu 37 8 144877243 144877243 + Missense_Mutation SNP G C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:144877243G>C uc003yzp.1 - 26 3818 c.3811C>G c.(3811-3813)Ctg>Gtg p.L1271V SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.L1271V NM_015356 NP_056171 Q14160 SCRIB_HUMAN Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA. 1271 activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction Scrib-APC-beta-catenin complex|cell-cell adherens junction protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) ACGGCGGCCAGGGCGCGGTAG 0.697000 32 7 0 0 0.001984 0 0 PAPPA 5069 broad.mit.edu 37 9 119106930 119106930 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:119106930G>A uc004bjn.3 + 13 4101 c.3720G>A c.(3718-3720)gtG>gtA p.V1240V PAPPA_uc011lxq.2_Silent_p.V615V NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 1240 Sushi 1. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 AGTGTACTGTGAGCTGCCGGA 0.572000 23 24 0 0 0.003954 0 0 OLFM3 118427 broad.mit.edu 37 1 102269986 102269986 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:102269986C>T uc001duf.2 - 5 1316 c.1245G>A c.(1243-1245)aaG>aaA p.K415K OLFM3_uc001dug.2_Silent_p.K395K|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Silent_p.K320K|OLFM3_uc001due.2_Non-coding_Transcript NM_058170 NP_477518 Q96PB7 NOE3_HUMAN Homo sapiens olfactomedin 3 (OLFM3), mRNA. 415 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) AATAATACACCTTGGCTCCAG 0.448000 45 74 0 0 0.003610 0 0 GLT8D2 83468 broad.mit.edu 37 12 104388243 104388243 + Missense_Mutation SNP C A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:104388243C>A uc001tkh.1 - 8 1194 c.637G>T c.(637-639)Gcc>Tcc p.A213S GLT8D2_uc001tki.1_Missense_Mutation_p.A213S NM_031302 NP_112592 Q9H1C3 GL8D2_HUMAN Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA. 213 integral to membrane transferase activity, transferring glycosyl groups kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 TCCTTGATGGCCTTCTTCCGG 0.478000 63 15 8.28177e-16 1.45859e-15 0.007413 1 0 SCN4A 6329 broad.mit.edu 37 17 62038588 62038588 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:62038588C>T uc002jds.1 - 10 1887 c.1810G>A c.(1810-1812)Gag>Aag p.E604K NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 604 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.E604E(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TCAAAGTGCTCCGTCATGGGG 0.602000 31 20 0 0 0.008871 0 0 TPR 7175 broad.mit.edu 37 1 186291528 186291528 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:186291528T>C uc001grv.3 - 44 6680 c.6383A>G c.(6382-6384)gAt>gGt p.D2128G MIR548F1_uc021pgf.1_Intron NM_003292 NP_003283 P12270 TPR_HUMAN Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA. 2128 carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) GTCTTCATCATCAAAAAAATG 0.338000 T NTRK1 papillary thyroid 50 15 0 0 0.004007 0 0 CATSPERD 257062 broad.mit.edu 37 19 5772944 5772944 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:5772944G>A uc002mda.3 + 19 1970 c.1909G>A c.(1909-1911)Gaa>Aaa p.E637K NM_152784 NP_689997 Q86XM0 TM146_HUMAN Homo sapiens transmembrane protein 146 (TMEM146), mRNA. 637 integral to membrane CATGATAAAGGAATTCGGGGG 0.572000 22 17 0 0 0.007413 0 0 FRYL 285527 broad.mit.edu 37 4 48578211 48578211 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:48578211T>C uc003gyh.1 - 23 3162 c.2557A>G c.(2557-2559)Acc>Gcc p.T853A FRYL_uc003gyk.3_Missense_Mutation_p.T853A NM_015030 NP_055845 O94915 FRYL_HUMAN Homo sapiens FRY-like (FRYL), mRNA. 853 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 CTTGTGGTGGTATTTACTTTC 0.373000 68 15 0 0 0.003163 0 0 NDST4 64579 broad.mit.edu 37 4 115997908 115997908 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:115997908G>A uc003ibu.3 - 1 964 c.285C>T c.(283-285)atC>atT p.I95I NDST4_uc010imw.3_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 95 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AAATAGCTATGATATCTTGAC 0.433000 56 36 0 0 0.003755 0 0 SNX17 9784 broad.mit.edu 37 2 27596119 27596119 + Nonsense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:27596119C>T uc002rkg.1 + 3 484 c.262C>T c.(262-264)Caa>Taa p.Q88* EIF2B4_uc002rka.3_5'Flank|EIF2B4_uc002rkb.3_5'Flank|EIF2B4_uc002rkc.3_5'Flank|EIF2B4_uc002rke.3_5'Flank|EIF2B4_uc002rkf.1_5'Flank|SNX17_uc010ylj.1_Nonsense_Mutation_p.Q68*|SNX17_uc002rki.1_Non-coding_Transcript|SNX17_uc002rkh.1_5'UTR|SNX17_uc010yll.1_5'UTR|SNX17_uc010ylm.1_5'UTR|SNX17_uc010yln.1_Nonsense_Mutation_p.Q76*|SNX17_uc010ylo.1_Nonsense_Mutation_p.Q6*|SNX17_uc010ylp.1_Nonsense_Mutation_p.Q63*|SNX17_uc010ylk.1_5'UTR|SNX17_uc010eza.1_5'UTR|SNX17_uc010ylq.1_5'UTR NM_014748 NP_055563 Q15036 SNX17_HUMAN Homo sapiens sorting nexin 17 (SNX17), mRNA. 88 PX. cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction Golgi apparatus|cytoplasmic vesicle membrane|cytosol|early endosome low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding p.R87W(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGTAGTTCGGCAAGACCCATT 0.527000 57 12 0 0 0.001855 0 0 COL8A1 1295 broad.mit.edu 37 3 99513985 99513985 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:99513985G>A uc003dti.1 + 2 1371 c.1243G>A c.(1243-1245)Gga>Aga p.G415R MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G414R|COL8A1_uc003dth.1_Missense_Mutation_p.G414R NM_020351 NP_065084 P27658 CO8A1_HUMAN Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA. 414 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 TGGACCCAAAGGAGAAGGTGG 0.607000 37 17 0 0 0.001523 0 0 LIPI 149998 broad.mit.edu 37 21 15561379 15561379 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr21:15561379C>T uc002yjm.3 - 1 481 c.471G>A c.(469-471)ttG>ttA p.L157L LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Silent_p.L136L|LIPI_uc021whh.1_Silent_p.L136L|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Silent_p.L136L|LIPI_uc021whe.1_Silent_p.L136L|LIPI_uc021whf.1_Silent_p.L136L NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN Homo sapiens lipase, member I (LIPI), mRNA. 136 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TGTGCACACTCAAACTCACAG 0.323000 51 21 0 0 0.001523 0 0 SBK1 388228 broad.mit.edu 37 16 28331598 28331598 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:28331598A>G uc002dpd.3 + 3 1420 c.631A>G c.(631-633)Acc>Gcc p.T211A NM_001024401 NP_001019572 Q52WX2 SBK1_HUMAN Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA. 211 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 CGTGAGCGGCACCATCCCTTA 0.711000 12 6 0 0 0.001984 0 0 NPSR1 387129 broad.mit.edu 37 7 34884511 34884511 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:34884511G>A uc003teh.1 + 6 889 c.761G>A c.(760-762)gGg>gAg p.G254E NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.G254E|NPSR1_uc010kwt.1_Missense_Mutation_p.G101E|NPSR1_uc010kwu.1_Missense_Mutation_p.G44E|NPSR1_uc010kwv.1_Missense_Mutation_p.G188E|NPSR1_uc003tei.1_Missense_Mutation_p.G254E|NPSR1_uc010kww.1_Missense_Mutation_p.G243E|NPSR1_uc011kar.1_Missense_Mutation_p.G188E NM_207173 NP_997056 Q6W5P4 NPSR1_HUMAN Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA. 254 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) TCTACAGATGGGAAACTGTGC 0.408000 55 18 0 0 0.001523 0 0 TATDN3 128387 broad.mit.edu 37 1 212977941 212977941 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:212977941T>C uc001hjo.2 + 6 529 c.435T>C c.(433-435)aaT>aaC p.N145N TATDN3_uc010ptj.1_Silent_p.N145N|TATDN3_uc010ptk.1_Silent_p.N145N|TATDN3_uc001hjp.2_Silent_p.N145N|TATDN3_uc010ptl.1_Silent_p.N124N|TATDN3_uc010ptm.1_Silent_p.N93N NM_001042552 NP_001036017 Q17R31 TATD3_HUMAN Homo sapiens TatD DNase domain containing 3 (TATDN3), transcript variant 1, mRNA. 145 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding endometrium(1)|large_intestine(2)|lung(6) 9 OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104) TAAACAGAAATGTGCACTCAC 0.338000 43 16 0 0 0.006122 0 0 CDK5 1020 broad.mit.edu 37 7 150752153 150752153 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:150752153G>A uc003wir.2 - 8 728 c.611C>T c.(610-612)cCc>cTc p.P204L CDK5_uc022apy.1_5'Flank|CDK5_uc003wis.2_Missense_Mutation_p.P172L NM_004935 NP_004926 Q00535 CDK5_HUMAN Homo sapiens cyclin-dependent kinase 5 (CDK5), transcript variant 1, mRNA. 204 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body ATP binding|ErbB-2 class receptor binding|ErbB-3 class receptor binding|acetylcholine receptor activator activity|cyclin-dependent protein kinase activity|tau-protein kinase activity central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1) 9 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) ATCATTGCCGGGAAAAAGAGG 0.557000 37 52 0 0 0.003610 0 0 TRBV5-5 28610 broad.mit.edu 37 7 142149034 142149034 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:142149034G>A uc010lnw.1 - 1 319 c.237C>T c.(235-237)ttC>ttT p.F79F TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV5-5_uc022anh.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; ATCGATCAGGGAAGTTTCCTC 0.522000 184 37 0 0 0.003755 0 0 CARD14 79092 broad.mit.edu 37 17 78163555 78163555 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:78163555G>A uc002jxw.1 + 5 1041 c.847G>A c.(847-849)Gag>Aag p.E283K CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Missense_Mutation_p.E283K|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Missense_Mutation_p.E46K|CARD14_uc010dhu.1_Missense_Mutation_p.E81K NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA. 283 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GCCCCAGGCGGAGAAGGACAT 0.682000 14 6 0 0 0.001168 0 0 USH2A 7399 broad.mit.edu 37 1 215972263 215972263 + Missense_Mutation SNP T A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:215972263T>A uc001hku.1 - 49 10331 c.9944A>T c.(9943-9945)tAc>tTc p.Y3315F NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3315 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAGGCGATTGTACACCACTCC 0.483000 HNSCC(13;0.011) 102 16 0 0 0.004990 0 0 RAMP3 10268 broad.mit.edu 37 7 45222948 45222948 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:45222948T>C uc003tnb.3 + 2 445 c.384T>C c.(382-384)gtT>gtC p.V128V NM_005856 NP_005847 O60896 RAMP3_HUMAN Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA. 128 intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane|lysosome protein transporter activity p.V127I(1) breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 11 Pramlintide(DB01278) TACCCGTCGTTCTGACTGTCG 0.617000 142 28 0 0 0.002096 0 0 NLRP5 126206 broad.mit.edu 37 19 56515263 56515263 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:56515263G>A uc002qmj.3 + 1 244 c.244G>A c.(244-246)Gaa>Aaa p.E82K NLRP5_uc002qmi.3_Missense_Mutation_p.E82K NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 82 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GACATTCAAGGAATTACTAAA 0.428000 45 27 0 0 0.005443 0 0 SALL4 57167 broad.mit.edu 37 20 50407061 50407061 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:50407061G>A uc002xwh.4 - 1 2062 c.1961C>T c.(1960-1962)cCc>cTc p.P654L SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 654 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGGCGTGTTGGGAATCTGACC 0.547000 34 25 0 0 0.008361 0 0 ZNF334 55713 broad.mit.edu 37 20 45130666 45130666 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:45130666A>G uc002xsa.3 - 3 1843 c.1381T>C c.(1381-1383)Tgt>Cgt p.C461R ZNF334_uc002xsb.3_Missense_Mutation_p.C400R|ZNF334_uc002xsd.3_Missense_Mutation_p.C400R|ZNF334_uc002xsc.3_Missense_Mutation_p.C438R|ZNF334_uc010ghl.3_Missense_Mutation_p.C437R Q9HCZ1 ZN334_HUMAN Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA. 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y461fs*1(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) AATTTTCCACATTGACTGCAT 0.373000 109 18 0 0 0.008871 0 0 ATP13A3 79572 broad.mit.edu 37 3 194159595 194159595 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:194159595T>C uc003fty.4 - 15 2219 c.1817A>G c.(1816-1818)aAc>aGc p.N606S ATP13A3_uc003ftz.1_Missense_Mutation_p.N312S NM_024524 NP_078800 Q9H7F0 AT133_HUMAN Homo sapiens ATPase type 13A3 (ATP13A3), mRNA. 606 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CATTTCTTGGTTTCCTGCAGG 0.343000 72 7 0 0 0.004482 0 0 SLU7 10569 broad.mit.edu 37 5 159830344 159830344 + Missense_Mutation SNP C G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:159830344C>G uc003lyg.3 - 15 1864 c.1709G>C c.(1708-1710)aGa>aCa p.R570T NM_006425 NP_006416 O95391 SLU7_HUMAN Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA. 570 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1) 20 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACGTTTCATTCTATATGCCTC 0.453000 123 6 0 0 0.001984 0 0 SCRIB 23513 broad.mit.edu 37 8 144895650 144895650 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:144895650A>G uc003yzp.1 - 4 500 c.493T>C c.(493-495)Tcc>Ccc p.S165P SCRIB_uc003yzo.1_Missense_Mutation_p.S165P|MIR937_uc022bck.1_5'Flank NM_015356 NP_056171 Q14160 SCRIB_HUMAN Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA. 165 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction Scrib-APC-beta-catenin complex|cell-cell adherens junction protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GCTGGCAGGGACTTGAGCAGG 0.647000 27 3 0 0 0.000248 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209198163 209198163 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:209198163T>C uc002vcz.3 + 23 4246 c.4088T>C c.(4087-4089)aTc>aCc p.I1363T PIKFYVE_uc002vcy.1_Missense_Mutation_p.I1307T NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA. 1363 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 GGTCACTCCATCCATCATGAT 0.433000 65 8 0 0 0.006214 0 0 TMEM245 23731 broad.mit.edu 37 9 111798547 111798547 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:111798547A>G uc004bdt.4 - 15 2370 c.2338T>C c.(2338-2340)Ttg>Ctg p.L780L TMEM245_uc022bln.1_Silent_p.L332L|TMEM245_uc004bds.4_Non-coding_Transcript NM_032012 NP_114401 Q9H330 CI005_HUMAN Homo sapiens chromosome 9 open reading frame 5 (C9orf5), mRNA. 780 integral to membrane TGAAAAATCAACAGTAAAATG 0.443000 25 11 0 0 0.001368 0 0 MARK1 4139 broad.mit.edu 37 1 220825467 220825467 + Missense_Mutation SNP G C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:220825467G>C uc009xdw.3 + 14 2308 c.1711G>C c.(1711-1713)Gac>Cac p.D571H MARK1_uc001hmn.4_Missense_Mutation_p.D571H|MARK1_uc010pun.2_Missense_Mutation_p.D571H|MARK1_uc001hmm.4_Missense_Mutation_p.D549H NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA. 571 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) AACCATTAAAGACGGCTCTGA 0.453000 94 12 0 0 0.002450 0 0 SCN5A 6331 broad.mit.edu 37 3 38592724 38592724 + Nonsense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:38592724C>T uc021wvo.1 - 26 5191 c.5139G>A c.(5137-5139)tgG>tgA p.W1713* SCN5A_uc021wvk.1_Nonsense_Mutation_p.W1680*|SCN5A_uc021wvl.1_Nonsense_Mutation_p.W1659*|SCN5A_uc021wvm.1_Nonsense_Mutation_p.W1695*|SCN5A_uc021wvn.1_Nonsense_Mutation_p.W1712*|SCN5A_uc021wvp.1_Nonsense_Mutation_p.W1713*|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Nonsense_Mutation_p.W1525*|SCN5A_uc021wvi.1_Nonsense_Mutation_p.W1579* NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1713 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGAGGCCATCCCAGCCGGCCG 0.632000 66 32 0 0 0.001786 0 0 POLK 51426 broad.mit.edu 37 5 74869588 74869588 + Missense_Mutation SNP G C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:74869588G>C uc003kdw.3 + 4 530 c.434G>C c.(433-435)aGa>aCa p.R145T POLK_uc003kdx.3_Non-coding_Transcript|POLK_uc003kdy.3_Non-coding_Transcript|POLK_uc003kea.3_Missense_Mutation_p.R145T|POLK_uc003keb.3_Missense_Mutation_p.R145T|POLK_uc010izq.3_Missense_Mutation_p.R145T|POLK_uc003kec.3_Missense_Mutation_p.R55T|POLK_uc010izr.3_Non-coding_Transcript|POLK_uc010izs.3_Non-coding_Transcript|POLK_uc003ked.3_Missense_Mutation_p.R55T|POLK_uc003kee.3_Missense_Mutation_p.R145T NM_016218 NP_057302 Q9UBT6 POLK_HUMAN Homo sapiens polymerase (DNA directed) kappa (POLK), mRNA. 145 UmuC. DNA replication|nucleotide-excision repair, DNA gap filling nucleus DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) CATGCAAGGAGATTTGGTGTT 0.393000 DNA polymerases (catalytic subunits) 34 23 0 0 0.003330 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140753987 140753987 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:140753987A>G uc003ljy.2 + 0 337 c.337A>G c.(337-339)Aaa>Gaa p.K113E PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.K113E NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 113 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCGAGGATAAACTGAATCT 0.483000 43 12 0 0 0.001368 0 0 DDX21 9188 broad.mit.edu 37 10 70719939 70719939 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:70719939T>C uc001jov.1 + 1 555 c.465T>C c.(463-465)ccT>ccC p.P155P DDX21_uc001jow.1_Silent_p.P87P NM_004728 NP_004719 Q9NR30 DDX21_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 (DDX21), mRNA. 155 nucleolus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 ATGGATTTCCTCATCCTGAAC 0.418000 31 34 0 0 0.005524 0 0 ZNF506 440515 broad.mit.edu 37 19 19905427 19905427 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:19905427T>C uc010eci.2 - 3 1417 c.1269A>G c.(1267-1269)aaA>aaG p.K423K ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Silent_p.K391K NM_001099269 NP_001092739 Q5JVG8 ZN506_HUMAN Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA. 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1) 14 CTATGCAGGGTTTCTGTCTAA 0.348000 49 8 0 0 0.004482 0 0 C14orf102 55051 broad.mit.edu 37 14 90769285 90769285 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:90769285G>A uc001xyi.2 - 5 1423 c.1190C>T c.(1189-1191)cCc>cTc p.P397L C14orf102_uc010atp.1_Intron|C14orf102_uc001xyj.2_Missense_Mutation_p.P166L NM_017970 NP_060440 Q9H7Z3 CN102_HUMAN Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA. 397 protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1) 39 all_cancers(154;0.118) COAD - Colon adenocarcinoma(157;0.218) CAGAGTGGAGGGCTCCCAGAA 0.488000 71 26 0 0 0.006320 0 0 CAPN10 11132 broad.mit.edu 37 2 241534534 241534534 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:241534534A>G uc002vzk.2 + 6 1287 c.1091A>G c.(1090-1092)aAc>aGc p.N364S CAPN10_uc010zoh.2_Missense_Mutation_p.N364S|CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Missense_Mutation_p.N364S|CAPN10_uc002vzn.2_Missense_Mutation_p.N236S|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron NM_023083 NP_075571 Q9HC96 CAN10_HUMAN Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA. 364 Domain III 1. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) TTTCCCAGCAACCCCAAATTC 0.662000 61 11 0 0 0.008291 0 0 IL7R 3575 broad.mit.edu 37 5 35876265 35876265 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:35876265G>A uc003jjs.3 + 7 1146 c.1057G>A c.(1057-1059)Gat>Aat p.D353N IL7R_uc011cop.2_Non-coding_Transcript NM_002185 NP_002176 P16871 IL7RA_HUMAN Homo sapiens interleukin 7 receptor (IL7R), mRNA. 353 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CCCATCTGAGGATGTAGTCAT 0.507000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 27 18 0 0 0.007413 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37730341 37730341 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:37730341G>A uc003xkm.2 - 3 2035 c.1979C>T c.(1978-1980)tCc>tTc p.S660F RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA. 660 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TGCTGGAAAGGATGGCTGTTT 0.507000 34 54 0 0 0.003610 0 0 EML2 24139 broad.mit.edu 37 19 46124524 46124524 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:46124524T>C uc010xxm.2 - 13 1739 c.1666A>G c.(1666-1668)Acc>Gcc p.T556A EML2_uc002pcn.3_Missense_Mutation_p.T355A|EML2_uc002pcp.3_Missense_Mutation_p.T239A|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.T502A|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Missense_Mutation_p.T355A|EML2_uc010ekj.3_Silent_p.G321G NM_001193268 NP_001180197 O95834 EMAL2_HUMAN Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA. 355 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding p.T556T(1) NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) TTGCGGGTGGTCCCCACGTAC 0.627000 33 10 0 0 0.008291 0 0 SFMBT1 51460 broad.mit.edu 37 3 52954617 52954617 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:52954617A>G uc003dgf.3 - 12 1931 c.1308T>C c.(1306-1308)gaT>gaC p.D436D SFMBT1_uc010hmr.3_Silent_p.D383D|SFMBT1_uc003dgg.3_Silent_p.D436D|SFMBT1_uc003dgh.3_Silent_p.D436D NM_001005159 NP_057413 Q9UHJ3 SMBT1_HUMAN Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA. 436 regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) AAGGAAATATATCCATGGATT 0.413000 68 15 0 0 0.004990 0 0 TRPM7 54822 broad.mit.edu 37 15 50884349 50884349 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:50884349G>A uc001zyt.4 - 25 4365 c.4083C>T c.(4081-4083)tcC>tcT p.S1361S TRPM7_uc010bew.2_Silent_p.S1361S NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA. 1361 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) GTTCTGGAGGGGAAACAGCAC 0.393000 13 11 0 0 0.008291 0 0 BRCA2 675 broad.mit.edu 37 13 32915029 32915029 + Silent SNP T G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr13:32915029T>G uc001uub.1 + 10 6764 c.6537T>G c.(6535-6537)gtT>gtG p.V2179V NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 2179 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) ACATTCATGTTTTGGGAAAAG 0.323000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 25 6 0 0 0.001168 0 0 NARS 4677 broad.mit.edu 37 18 55273959 55273959 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr18:55273959A>G uc002lgs.2 - 9 1254 c.1026T>C c.(1024-1026)tgT>tgC p.C342C NARS_uc010xea.1_Silent_p.C93C NM_004539 NP_004530 O43776 SYNC_HUMAN Homo sapiens asparaginyl-tRNA synthetase (NARS), mRNA. 342 asparaginyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|asparagine-tRNA ligase activity|nucleic acid binding|protein binding p.C342C(2) breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1) 20 Colorectal(73;0.227) L-Asparagine(DB00174) TCAGGAAAGGACACTCAGCTT 0.473000 100 24 0 0 0.005443 0 0 SLC2A1 6513 broad.mit.edu 37 1 43396814 43396814 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:43396814T>C uc001cik.2 - 2 703 c.178A>G c.(178-180)Acg>Gcg p.T60A NM_006516 NP_006507 P11166 GTR1_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA. 60 carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity p.T60M(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2) 13 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) GTGGTGAGCGTGGTGGGCAGG 0.592000 OREG0013425 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 11 0 0 0.003163 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65350678 65350678 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:65350678G>A uc001oeo.4 + 8 2800 c.2535G>A c.(2533-2535)gaG>gaA p.E845E NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA. 845 Glu-rich. central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 AGGAGACAGAGGTCGGGGGTT 0.562000 23 7 0 0 0.003080 0 0 CD164 8763 broad.mit.edu 37 6 109690179 109690179 + Nonsense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:109690179G>A uc003pte.3 - 5 650 c.469C>T c.(469-471)Cga>Tga p.R157* CD164_uc003ptd.3_Nonsense_Mutation_p.R157*|CD164_uc003ptf.3_Nonsense_Mutation_p.R138*|CD164_uc011eap.2_Intron|CD164_uc010kdn.3_Nonsense_Mutation_p.R144* NM_006016 NP_006007 Q04900 MUC24_HUMAN Homo sapiens CD164 molecule, sialomucin (CD164), transcript variant 1, mRNA. 157 hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane protein binding breast(1)|lung(2) 3 all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175) Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16) GTAGACTTTCGCACAGGTTGT 0.378000 21 8 0 0 0.003080 0 0 PPL 5493 broad.mit.edu 37 16 4938995 4938995 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:4938995T>C uc002cyd.1 - 18 2471 c.2381A>G c.(2380-2382)tAc>tGc p.Y794C NM_002705 NP_002696 O60437 PEPL_HUMAN Homo sapiens periplakin (PPL), mRNA. 794 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 AGCTTGCTGGTACTGCTGGGA 0.498000 287 72 0 0 0.003610 0 0 DEFB115 245929 broad.mit.edu 37 20 29847290 29847290 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:29847290G>A uc002wvp.1 + 1 122 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001037730 NP_001032819 Q30KQ5 DB115_HUMAN Homo sapiens defensin, beta 115 (DEFB115), mRNA. 41 defense response to bacterium extracellular region kidney(1)|lung(3)|ovary(1)|skin(1) 6 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) TGCTATTATGGAACTGGCAGA 0.318000 39 16 0 0 0.004007 0 0 CACNA1G 8913 broad.mit.edu 37 17 48681523 48681523 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:48681523A>G uc002irk.1 + 21 4549 c.4177A>G c.(4177-4179)Agc>Ggc p.S1393G CACNA1G_uc002iri.1_Missense_Mutation_p.S1393G|CACNA1G_uc002irj.1_Missense_Mutation_p.S1370G|CACNA1G_uc002irl.1_Missense_Mutation_p.S1370G|CACNA1G_uc002irm.1_Missense_Mutation_p.S1370G|CACNA1G_uc002irn.1_Missense_Mutation_p.S1370G|CACNA1G_uc002iro.1_Missense_Mutation_p.S1370G|CACNA1G_uc002irp.1_Missense_Mutation_p.S1393G|CACNA1G_uc002irq.1_Missense_Mutation_p.S1370G|CACNA1G_uc002irr.1_Missense_Mutation_p.S1393G|CACNA1G_uc002irs.1_Missense_Mutation_p.S1393G|CACNA1G_uc002irt.1_Missense_Mutation_p.S1393G|CACNA1G_uc002iru.1_Missense_Mutation_p.S1370G|CACNA1G_uc002irv.1_Missense_Mutation_p.S1393G|CACNA1G_uc002irw.1_Missense_Mutation_p.S1370G|CACNA1G_uc002irx.1_Missense_Mutation_p.S1306G|CACNA1G_uc002iry.1_Missense_Mutation_p.S1306G|CACNA1G_uc002isg.1_Missense_Mutation_p.S1306G|CACNA1G_uc002ish.1_Missense_Mutation_p.S1306G|CACNA1G_uc002isi.1_Missense_Mutation_p.S1283G|CACNA1G_uc002irz.1_Missense_Mutation_p.S1306G|CACNA1G_uc002isa.1_Missense_Mutation_p.S1306G|CACNA1G_uc002isd.1_Missense_Mutation_p.S1306G|CACNA1G_uc002isb.1_Missense_Mutation_p.S1306G|CACNA1G_uc002isc.1_Missense_Mutation_p.S1306G|CACNA1G_uc002ise.1_Missense_Mutation_p.S1306G|CACNA1G_uc002isf.1_Missense_Mutation_p.S1306G|CACNA1G_uc002isj.3_Missense_Mutation_p.S117G NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 1393 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) CAGGGTGATCAGCCGGGCGCA 0.602000 32 6 0 0 0.001168 0 0 ODZ4 26011 broad.mit.edu 37 11 78412975 78412975 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:78412975C>T uc001ozl.4 - 27 5146 c.4683G>A c.(4681-4683)cgG>cgA p.R1561R NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 1561 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 TCCGGATAAACCGAATTCGGA 0.493000 50 16 0 0 0.007413 0 0 SYPL2 284612 broad.mit.edu 37 1 110018237 110018237 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:110018237C>T uc001dxp.3 + 2 530 c.164C>T c.(163-165)tCc>tTc p.S55F SYPL2_uc001dxo.2_Missense_Mutation_p.S55F|SYPL2_uc010ovk.2_Missense_Mutation_p.S55F|SYPL2_uc001dxq.2_5'Flank NM_001040709 NP_001035799 Q5VXT5 SYPL2_HUMAN Homo sapiens synaptophysin-like 2 (SYPL2), mRNA. 55 MARVEL. integral to membrane|synaptic vesicle transporter activity breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_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;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) TCCTGTGGCTCCTACAGCGGG 0.532000 142 130 0 0 0.003610 0 0 DOT1L 84444 broad.mit.edu 37 19 2228204 2228204 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:2228204A>G uc002lvc.1 + 13 3724 c.2957A>G c.(2956-2958)cAc>cGc p.H986R DOT1L_uc002lvb.4_Intron NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA. 1693 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 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) ACGGTGCACCACCAGCCCCTG 0.731000 30 6 0 0 0.001984 0 0 LRRFIP1 9208 broad.mit.edu 37 2 238671713 238671713 + Missense_Mutation SNP G C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:238671713G>C uc002vxe.3 + 10 1649 c.1357G>C c.(1357-1359)Gat>Cat p.D453H LRRFIP1_uc002vxc.3_Intron|LRRFIP1_uc010znm.2_Intron|LRRFIP1_uc002vxd.3_Missense_Mutation_p.D429H|LRRFIP1_uc002vxf.3_Missense_Mutation_p.D397H NM_001137552 NP_001131024 Q32MZ4 LRRF1_HUMAN Homo sapiens leucine rich repeat (in FLII) interacting protein 1 (LRRFIP1), transcript variant 3, mRNA. 453 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) AGTTTATCATGATGACAAATG 0.498000 78 20 0 0 0.007413 0 0 RNF217 154214 broad.mit.edu 37 6 125404012 125404012 + Missense_Mutation SNP T A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:125404012T>A uc003pzr.3 + 5 1387 c.853T>A c.(853-855)Tta>Ata p.L285I RNF217_uc003pzs.3_Missense_Mutation_p.F266Y|RNF217_uc003pzt.3_Non-coding_Transcript Q8TC41 RN217_HUMAN Homo sapiens ring finger protein 217 (RNF217), mRNA. 0 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) ATCCCTAGGTTTATTTGTATT 0.333000 7 12 0 0 0.001368 0 0 RTN3 10313 broad.mit.edu 37 11 63487677 63487677 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:63487677A>G uc001nxq.3 + 2 1890 c.1703A>G c.(1702-1704)cAg>cGg p.Q568R RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Missense_Mutation_p.Q456R|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.Q549R|RTN3_uc001nxo.3_Intron NM_201428 NP_958831 O95197 RTN3_HUMAN Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA. 568 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 CATCAAGATCAGCCTGATATT 0.418000 83 12 0 0 0.001855 0 0 FNDC1 84624 broad.mit.edu 37 6 159618512 159618512 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:159618512G>A uc010kjv.3 + 1 359 c.159G>A c.(157-159)atG>atA p.M53I FNDC1_uc010kjw.1_Missense_Mutation_p.M1I NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA. 53 Fibronectin type-III 1. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CCACTAAAATGGGCCTGAAAG 0.453000 42 48 0 0 0.003610 0 0 ERF 2077 broad.mit.edu 37 19 42753179 42753179 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:42753179G>A uc002ote.4 - 3 1243 c.1085C>T c.(1084-1086)tCc>tTc p.S362F ERF_uc002otd.4_Missense_Mutation_p.S93F NM_006494 NP_006485 P50548 ERF_HUMAN Homo sapiens Ets2 repressor factor (ERF), mRNA. 362 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) CGAGGCCGAGGAGGGGACCGG 0.692000 56 10 0 0 0.000978 0 0 KRT79 338785 broad.mit.edu 37 12 53217794 53217794 + Nonsense_Mutation SNP A C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:53217794A>C uc001sbb.3 - 5 1056 c.1023T>G c.(1021-1023)taT>taG p.Y341* KRT79_uc001sba.3_Nonsense_Mutation_p.Y112* NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN Homo sapiens keratin 79 (KRT79), mRNA. 341 Coil 2.|Rod. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCAGCTCCTCATACTGGGGAC 0.607000 40 5 0 0 0.001168 0 0 RBM19 9904 broad.mit.edu 37 12 114380138 114380139 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:114380138_114380139GG>AA uc009zwi.2 - 13 1871_1872 c.1727_1728CC>TT c.(1726-1728)tcc>tTT p.S576F RBM19_uc001tvn.4_Missense_Mutation_p.S576F|RBM19_uc001tvm.3_Missense_Mutation_p.S576F NM_001146699 NP_057280 Q9Y4C8 RBM19_HUMAN Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA. 576 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm RNA binding|nucleotide binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) CCTGGCTGAAGGAATCCAGGCT 0.609000 17 9 0 0 0.004672 0 0 ERCC6L 54821 broad.mit.edu 37 X 71424980 71424980 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrX:71424980A>G uc004eaq.1 - 1 3734 c.3637T>C c.(3637-3639)Tgt>Cgt p.C1213R PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.C1090R NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA. 1213 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) ATTTTTCCACACTCTTTTAGT 0.418000 24 7 0 0 0.003080 0 0 RABGAP1 23637 broad.mit.edu 37 9 125748640 125748640 + Missense_Mutation SNP T A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:125748640T>A uc011lzh.2 + 3 666 c.532T>A c.(532-534)Tgt>Agt p.C178S RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc004bnm.1_Missense_Mutation_p.C178S NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA. 178 PID. cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 AAGAAGCCAGTGTCAGATTTC 0.423000 49 52 0 0 0.003610 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19414170 19414170 + RNA SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr13:19414170T>C uc010tcj.1 - 0 c.31940A>G Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. GATTGAACAGTTGGTTCAAGT 0.269000 31 4 0 0 0.006214 0 0 PHF23 79142 broad.mit.edu 37 17 7140086 7140086 + Splice_Site SNP C A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:7140086C>A uc002gfa.3 - 4 387 c.160_splice c.e4-1 p.E54_splice DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Intron|PHF23_uc010cma.3_Splice_Site NM_024297 NP_077273 Q9BUL5 PHF23_HUMAN Homo sapiens PHD finger protein 23 (PHF23), mRNA. 54 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 CAGTCACTTTCCTTAAAAGGG 0.562000 55 5 1.23904e-05 2.15563e-05 0.000602 1 0 PHKA2 5256 broad.mit.edu 37 X 18954222 18954222 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chrX:18954222T>C uc004cyv.4 - 10 1518 c.1088A>G c.(1087-1089)aAg>aGg p.K363R NM_000292 NP_000283 P46019 KPB2_HUMAN Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA. 363 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) GATCCCATTCTTGCCTCTGAT 0.542000 13 4 0 0 0.000248 0 0 LCP2 3937 broad.mit.edu 37 5 169677840 169677840 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:169677840G>A uc003man.1 - 19 1580 c.1373C>T c.(1372-1374)cCa>cTa p.P458L C5orf58_uc003mal.2_Intron|LCP2_uc011des.1_Missense_Mutation_p.P253L|LCP2_uc011det.1_Missense_Mutation_p.P287L NM_005565 NP_005556 Q13094 LCP2_HUMAN Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA. 458 SH2. T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) GAGGACATATGGATTGGTTGT 0.378000 30 19 0 0 0.007413 0 0 HNRNPL 3191 broad.mit.edu 37 19 39322081 39322081 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:39322081G>A uc002oji.3 - 1 213 c.128C>T c.(127-129)tCc>tTc p.S43F HNRNPL_uc010xuk.1_Missense_Mutation_p.S43F|HNRNPL_uc002ojj.1_Missense_Mutation_p.S252F|HNRNPL_uc010ege.1_Intron NM_001398 NP_001389 P14866 HNRPL_HUMAN Homo sapiens enoyl CoA hydratase 1, peroxisomal (ECH1), mRNA. 544 Gly-rich. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) GGCTACTCCGGAAGCCTCCTC 0.577000 35 14 0 0 0.003163 0 0 TSEN54 283989 broad.mit.edu 37 17 73520462 73520462 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:73520462A>G uc002jof.1 + 10 1583 c.1550A>G c.(1549-1551)gAc>gGc p.D517G LLGL2_uc002jog.1_5'Flank|LLGL2_uc010dgf.1_5'Flank|LLGL2_uc002joh.3_5'Flank|LLGL2_uc002joi.3_5'Flank NM_207346 NP_997229 Q7Z6J9 SEN54_HUMAN Homo sapiens tRNA splicing endonuclease 54 homolog (S. cerevisiae) (TSEN54), mRNA. 517 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2) 13 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;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) AGCTTCAGGGACTTCACGTTG 0.582000 73 7 0 0 0.006214 0 0 FOXRED2 80020 broad.mit.edu 37 22 36902055 36902055 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr22:36902055G>A uc003apn.4 - 0 523 c.415C>T c.(415-417)Cgt>Tgt p.R139C FOXRED2_uc003apo.4_Missense_Mutation_p.R139C|FOXRED2_uc003app.4_Missense_Mutation_p.R139C NM_024955 NP_079231 Q8IWF2 FXRD2_HUMAN Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA. 139 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 TACTGGACACGGAGCCCCAGC 0.627000 44 18 0 0 0.006122 0 0 CENPF 1063 broad.mit.edu 37 1 214826299 214826299 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:214826299T>C uc001hkm.3 + 15 8463 c.8289T>C c.(8287-8289)acT>acC p.T2763T NM_016343 NP_057427 P49454 CENPF_HUMAN Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA. 2859 Sufficient for centromere localization.|Sufficient for self-association. DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TGAAAGCTACTACTCAGATTT 0.328000 178 22 0 0 0.002780 0 0 NOBOX 135935 broad.mit.edu 37 7 144098194 144098194 + Silent SNP C A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:144098194C>A uc022aoj.1 - 3 789 c.789G>T c.(787-789)ggG>ggT p.G263G NM_001080413 NP_001073882 O60393 NOBOX_HUMAN Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA. 263 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) CTTCCGGGGGCCCCTGCTTGT 0.567000 75 10 6.40141e-05 0.000110756 0.000978 1 0 CBLN4 140689 broad.mit.edu 37 20 54575886 54575886 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:54575886A>G uc002xxa.3 - 1 1094 c.309T>C c.(307-309)ggT>ggC p.G103G NM_080617 NP_542184 Q9NTU7 CBLN4_HUMAN Homo sapiens cerebellin 4 precursor (CBLN4), mRNA. 103 C1q. cell junction|extracellular region|synapse endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1) 17 Colorectal(105;0.202) TGAAAAAATTACCCACATTCA 0.318000 55 11 0 0 0.001368 0 0 IDNK 414328 broad.mit.edu 37 9 86256506 86256507 + Splice_Site DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:86256506_86256507GG>AA uc004amu.2 + 4 266 c.212_splice c.e4+1 p.R71_splice IDNK_uc004amt.2_Splice_Site|IDNK_uc010mpv.2_Splice_Site NM_001001551 NP_001001551 Q5T6J7 GNTK_HUMAN Homo sapiens chromosome 9 open reading frame 103 (C9orf103), transcript variant 1, mRNA. 71 carbohydrate metabolic process cytoplasm ATP binding|gluconokinase activity|shikimate kinase activity ATTTTACTAAGGTAAGAGACCA 0.421000 73 30 0 0 0.004672 0 0 TARBP2 6895 broad.mit.edu 37 12 53898559 53898559 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:53898559A>G uc001sdo.3 + 5 1061 c.573A>G c.(571-573)gaA>gaG p.E191E TARBP2_uc001sdp.3_Silent_p.E170E|TARBP2_uc001sdr.3_Silent_p.E47E|TARBP2_uc001sdt.3_Silent_p.E170E NM_134323 NP_599151 Q15633 TRBP2_HUMAN Homo sapiens TAR (HIV-1) RNA binding protein 2 (TARBP2), transcript variant 1, mRNA. 191 DRBM 2.|Sufficient for interaction with PRKRA. miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference RNA-induced silencing complex|cytosol|nucleus|perinuclear region of cytoplasm double-stranded RNA binding|protein homodimerization activity|siRNA binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3) 10 ACCGCAAAGAATTCACCATGA 0.592000 52 10 0 0 0.000978 0 0 HHIPL2 79802 broad.mit.edu 37 1 222705417 222705417 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:222705417C>T uc001hnh.1 - 5 1672 c.1614G>A c.(1612-1614)aaG>aaA p.K538K NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN Homo sapiens HHIP-like 2 (HHIPL2), mRNA. 538 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) TCTTCCATTTCTTGTTTTTTC 0.433000 677 153 0 0 0.003610 0 0 CNGB1 1258 broad.mit.edu 37 16 57937785 57937785 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:57937785G>A uc002emt.2 - 26 2800 c.2735C>T c.(2734-2736)tCc>tTc p.S912F CNGB1_uc010cdh.2_Missense_Mutation_p.S906F NM_001297 NP_001288 Q14028 CNGB1_HUMAN Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA. 912 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GTTCTGCACGGACTTGGGGAT 0.582000 16 12 0 0 0.001855 0 0 SIRT2 22933 broad.mit.edu 37 19 39380777 39380777 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:39380777T>C uc002ojt.2 - 4 575 c.234A>G c.(232-234)agA>agG p.R78R SIRT2_uc010egi.2_Silent_p.R41R|SIRT2_uc002ojs.2_Silent_p.R58R|SIRT2_uc002oju.2_Silent_p.R41R|SIRT2_uc010egh.2_Silent_p.R41R|SIRT2_uc002ojv.2_Silent_p.R78R NM_012237 NP_085096 Q8IXJ6 SIRT2_HUMAN Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA. 78 Deacetylase sirtuin-type. cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state chromatin silencing complex|cytoplasm|microtubule NAD+ binding|NAD-dependent histone deacetylase activity|histone acetyltransferase binding|histone deacetylase binding|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(5)|skin(1) 9 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191) AACAGATGACTCTGCGACCTG 0.557000 34 7 0 0 0.001984 0 0 TRH 7200 broad.mit.edu 37 3 129695598 129695598 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:129695598G>A uc003enc.3 + 2 829 c.268G>A c.(268-270)Gag>Aag p.E90K NM_007117 NP_009048 P20396 TRH_HUMAN Homo sapiens thyrotropin-releasing hormone (TRH), mRNA. 90 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 14 AGGCAAAAGAgaggaggagga 0.577000 47 19 0 0 0.006122 0 0 NR1H4 9971 broad.mit.edu 37 12 100926293 100926293 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:100926293A>G uc001tht.2 + 2 561 c.533A>G c.(532-534)aAc>aGc p.N178S NR1H4_uc001thq.2_Missense_Mutation_p.N168S|NR1H4_uc001thp.2_Missense_Mutation_p.N168S|NR1H4_uc001thr.2_Missense_Mutation_p.N168S|NR1H4_uc010svk.2_Intron|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.N178S NM_001206993 NP_001193922 Q96RI1 NR1H4_HUMAN Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA. 178 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 AACGGGGGCAACTGTGTGATG 0.418000 92 16 0 0 0.004007 0 0 PLCH1 23007 broad.mit.edu 37 3 155200402 155200402 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:155200402C>T uc021xge.1 - 22 3714 c.3437G>A c.(3436-3438)cGa>cAa p.R1146Q PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.R1108Q NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 1146 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGTTGCAGCTCGGCCCTTACC 0.458000 33 13 0 0 0.001855 0 0 POTEE 445582 broad.mit.edu 37 2 132010545 132010545 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:132010545G>A uc002tsn.2 + 12 1703 c.1651G>A c.(1651-1653)Gga>Aga p.G551R PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.G151R|POTEE_uc002tsl.2_Missense_Mutation_p.G133R|POTEE_uc010fmy.1_Missense_Mutation_p.G15R NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 551 ATP binding TACTCATGTCGGATTCCCAGA 0.403000 82 25 0 0 0.005443 0 0 ANLN 54443 broad.mit.edu 37 7 36450166 36450166 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:36450166T>C uc003tff.3 + 5 1344 c.1140T>C c.(1138-1140)cgT>cgC p.R380R ANLN_uc011kaz.2_Silent_p.R292R|ANLN_uc003tfg.3_Silent_p.R380R|ANLN_uc010kxe.3_Silent_p.R380R NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN Homo sapiens anillin, actin binding protein (ANLN), mRNA. 380 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 TTGGAGAGCGTTGTCAAGAAC 0.398000 37 8 0 0 0.004482 0 0 SKAP1 8631 broad.mit.edu 37 17 46423352 46423352 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:46423352C>T uc002ini.1 - 3 307 c.195G>A c.(193-195)caG>caA p.Q65Q SKAP1_uc002inj.1_Silent_p.Q65Q|SKAP1_uc010dbd.1_5'UTR|SKAP1_uc010dbe.1_Silent_p.Q65Q NM_003726 NP_003717 Q86WV1 SKAP1_HUMAN Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA. 65 T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|plasma membrane SH2 domain binding|antigen binding|protein kinase binding large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 CAGAGCTGTCCTGTCCAATGT 0.428000 15 11 0 0 0.002450 0 0 PTPRM 5797 broad.mit.edu 37 18 8379253 8379253 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr18:8379253A>G uc002knn.4 + 25 4165 c.3662A>G c.(3661-3663)gAc>gGc p.D1221G PTPRM_uc010dkv.3_Missense_Mutation_p.D1234G|PTPRM_uc010wzl.2_Missense_Mutation_p.D1008G NM_002845 NP_002836 P28827 PTPRM_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA. 1221 Tyrosine-protein phosphatase 2. 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 p.M1220V(1) 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) CGGTGCATGGACATCCTGCCC 0.577000 33 6 0 0 0.004482 0 0 COL4A1 1282 broad.mit.edu 37 13 110823081 110823081 + Splice_Site SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr13:110823081T>C uc001vqw.4 - 42 3679 c.3557_splice c.e42-1 p.G1186_splice NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 1186 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCTTTGAACCTGAACAAGAAA 0.557000 45 12 0 0 0.002450 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100564720 100564720 + RNA SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:100564720A>G uc021rcm.1 - 1 c.278T>C GOLGA2P5_uc001tgz.4_Non-coding_Transcript Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 1, non-coding RNA. CTCACCTGTAACTGCTCCCTT 0.478000 80 13 0 0 0.002450 0 0 UBA2 10054 broad.mit.edu 37 19 34959991 34959991 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:34959991T>C uc002nvk.3 + 16 1858 c.1788T>C c.(1786-1788)gaT>gaC p.D596D UBA2_uc002nvl.3_Silent_p.D500D NM_005499 NP_005490 Q9UBT2 SAE2_HUMAN Homo sapiens ubiquitin-like modifier activating enzyme 2 (UBA2), mRNA. 596 protein sumoylation nucleus ATP binding|SUMO activating enzyme activity|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 20 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) ATGAAGAAGATTCTTCAAATA 0.398000 20 4 0 0 0.000248 0 0 EHMT1 79813 broad.mit.edu 37 9 140638373 140638373 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:140638373C>T uc011mfc.2 + 5 1038 c.1001C>T c.(1000-1002)gCc>gTc p.A334V EHMT1_uc004coa.3_Missense_Mutation_p.A334V|EHMT1_uc004cob.1_Missense_Mutation_p.A303V NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA. 334 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GACCTGGGCGCCAGCAGCCTG 0.602000 15 10 0 0 0.006214 0 0 FAM129B 64855 broad.mit.edu 37 9 130270409 130270409 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:130270409G>A uc004brh.3 - 11 1707 c.1505C>T c.(1504-1506)cCg>cTg p.P502L FAM129B_uc004bri.3_Missense_Mutation_p.P489L|FAM129B_uc004brj.4_Missense_Mutation_p.P502L NM_022833 NP_073744 Q96TA1 NIBL1_HUMAN Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA. 502 protein binding p.P502P(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 GAGCAGGAACGGGATGCTGAT 0.632000 46 21 0 0 0.003954 0 0 NCAPH 23397 broad.mit.edu 37 2 97030289 97030289 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:97030289A>G uc002svz.1 + 12 1742 c.1658A>G c.(1657-1659)aAc>aGc p.N553S NCAPH_uc010fhv.1_Missense_Mutation_p.N542S|NCAPH_uc010yum.1_Missense_Mutation_p.N529S|NCAPH_uc010yun.1_Missense_Mutation_p.N417S NM_015341 NP_056156 Q15003 CND2_HUMAN Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA. 553 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(717;0.0221) TATGATTACAACAACCCTAAC 0.443000 34 10 0 0 0.001368 0 0 EMR1 2015 broad.mit.edu 37 19 6913831 6913832 + Missense_Mutation DNP GG AA AA rs141986863 byFrequency TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:6913831_6913832GG>AA uc002mfw.3 + 10 1328_1329 c.1290_1291GG>AA c.(1288-1293)acggaa>acAAaa p.E431K EMR1_uc010dvc.3_Missense_Mutation_p.E431K|EMR1_uc010dvb.3_Missense_Mutation_p.E379K|EMR1_uc010xji.2_Missense_Mutation_p.E290K|EMR1_uc010xjj.2_Missense_Mutation_p.E254K NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 431 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CTGTTCGGACGGAATACTTAGG 0.500000 95 16 0 0 0.004672 0 0 POLQ 10721 broad.mit.edu 37 3 121263622 121263622 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:121263622A>G uc003eee.4 - 1 424 c.295T>C c.(295-297)Tgc>Cgc p.C99R NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 99 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) AGCAAAAGGCACTCTGCCTGC 0.348000 DNA polymerases (catalytic subunits) 43 21 0 0 0.002780 0 0 FGF18 8817 broad.mit.edu 37 5 170863160 170863160 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:170863160G>A uc003mbk.3 + 2 670 c.133G>A c.(133-135)Gac>Aac p.D45N NM_003862 NP_003853 O76093 FGF18_HUMAN Homo sapiens fibroblast growth factor 18 (FGF18), mRNA. 45 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation extracellular space|nucleolus growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding p.R44R(1) endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 9 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCGGGCTCGGGACGATGTGAG 0.632000 12 10 0 0 0.000978 0 0 TCF20 6942 broad.mit.edu 37 22 42609176 42609176 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr22:42609176A>G uc003bcj.1 - 0 2270 c.2136T>C c.(2134-2136)agT>agC p.S712S TCF20_uc003bck.1_Silent_p.S712S NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA. 712 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTGACCCGAAACTATCTTTGT 0.517000 155 25 0 0 0.003954 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68229414 68229414 + Missense_Mutation SNP G T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:68229414G>T uc001xka.2 - 32 6273 c.6134C>A c.(6133-6135)gCc>gAc p.A2045D ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkb.3_5'Flank|ZFYVE26_uc001xkc.4_Missense_Mutation_p.A2045D NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA. 2045 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GTAGTACTCGGCTTCCAAAAG 0.488000 55 20 3.01185e-09 5.2632e-09 0.003954 1 0 FNDC3A 22862 broad.mit.edu 37 13 49742751 49742751 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr13:49742751T>C uc001vcm.3 + 9 1345 c.1040T>C c.(1039-1041)gTc>gCc p.V347A FNDC3A_uc001vcn.3_Missense_Mutation_p.V347A|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_Missense_Mutation_p.V291A|FNDC3A_uc001vcq.3_Missense_Mutation_p.V291A NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA. 347 Fibronectin type-III 1. 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) CACCATAGAGTCCAGGCAGAA 0.383000 52 8 0 0 0.004482 0 0 LTB4R 1241 broad.mit.edu 37 14 24785181 24785181 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:24785181C>T uc001wou.3 + 1 656 c.324C>T c.(322-324)atC>atT p.I108I LTB4R_uc001wos.3_Silent_p.I108I|LTB4R_uc010alp.3_Silent_p.I108I|LTB4R_uc021rrq.1_Silent_p.I108I NM_181657 NP_858043 Q15722 LT4R1_HUMAN Homo sapiens leukotriene B4 receptor (LTB4R), transcript variant 1, mRNA. 108 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) TCCTGCTTATCACGGCCATGA 0.622000 28 21 0 0 0.001523 0 0 TMX3 54495 broad.mit.edu 37 18 66354936 66354936 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr18:66354936T>C uc002lkf.3 - 9 839 c.704A>G c.(703-705)gAt>gGt p.D235G TMX3_uc010xez.2_Missense_Mutation_p.D94G NM_019022 NP_061895 Q96JJ7 TMX3_HUMAN Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA. 235 cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 17 GAGGAAGCCATCCATAGCAAG 0.338000 130 19 0 0 0.001882 0 0 NOP56 10528 broad.mit.edu 37 20 2636679 2636679 + Splice_Site SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:2636679A>G uc002wgh.3 + 8 1139 c.1010_splice c.e8+1 p.R337_splice NOP56_uc010zpy.2_Non-coding_Transcript|NOP56_uc002wgi.3_Splice_Site_p.R171_splice NM_006392 NP_006383 O00567 NOP56_HUMAN Homo sapiens NOP56 ribonucleoprotein homolog (yeast) (NOP56), transcript variant 1, mRNA. 337 Nop. rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 GGCCCTGTTCAGGTACCAGTG 0.592000 30 7 0 0 0.003080 0 0 ACP6 51205 broad.mit.edu 37 1 147131117 147131117 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:147131117T>C uc001epr.2 - 3 981 c.517A>G c.(517-519)Acc>Gcc p.T173A ACP6_uc009wjj.1_Missense_Mutation_p.T130A NM_016361 NP_057445 Q9NPH0 PPA6_HUMAN Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA. 173 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) AAACAACGGGTGGACTCCAGA 0.418000 113 21 0 0 0.001882 0 0 NUP210 23225 broad.mit.edu 37 3 13371985 13371985 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:13371985T>C uc003bxv.1 - 29 4168 c.4085A>G c.(4084-4086)aAc>aGc p.N1362S NM_024923 NP_079199 Q8TEM1 PO210_HUMAN Homo sapiens nucleoporin 210kDa (NUP210), mRNA. 1362 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GATGGTTTGGTTGGCCCCAAA 0.453000 141 73 0 0 0.003610 0 0 OBFC2B 79035 broad.mit.edu 37 12 56622968 56622968 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:56622968A>G uc001skk.3 + 5 741 c.682A>G c.(682-684)Aaa>Gaa p.K228E OBFC2B_uc001ski.3_Missense_Mutation_p.K203E NM_024068 NP_076973 Q9BQ15 SOSB1_HUMAN Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 2B (OBFC2B), mRNA. 203 G2/M transition checkpoint|double-strand break repair via homologous recombination|response to ionizing radiation SOSS complex protein binding|single-stranded DNA binding endometrium(1)|lung(1)|ovary(1)|skin(2) 5 TAGTAACGGCAAAGAAACCCG 0.577000 Other identified genes with known or suspected DNA repair function 52 19 0 0 0.003954 0 0 POMT2 29954 broad.mit.edu 37 14 77751909 77751909 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:77751909T>C uc001xti.2 - 12 1600 c.1399A>G c.(1399-1401)Atc>Gtc p.I467V POMT2_uc001xth.1_Missense_Mutation_p.I165V NM_013382 NP_037514 Q9UKY4 POMT2_HUMAN Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA. 467 MIR 3. protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) AGCACTTTGATCCGGTTTCCA 0.453000 424 94 0 0 0.003610 0 0 NCOR2 9612 broad.mit.edu 37 12 124911290 124911290 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:124911290A>G uc021rga.1 - 10 1323 c.1206T>C c.(1204-1206)gcT>gcC p.A402A NCOR2_uc021rgb.1_Silent_p.A402A|NCOR2_uc010tbb.2_Silent_p.A402A|NCOR2_uc010tbc.2_Silent_p.A401A|NCOR2_uc021rgc.1_Silent_p.A401A|NCOR2_uc010tba.2_Silent_p.A402A|NCOR2_uc001ugj.1_Silent_p.A402A|NCOR2_uc001ugk.1_Silent_p.A402A NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA. 402 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCTGCTGGTCAGCGTCGTACA 0.597000 70 16 0 0 0.006122 0 0 GAS6 2621 broad.mit.edu 37 13 114542734 114542734 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr13:114542734T>C uc001vud.3 - 4 586 c.433A>G c.(433-435)Aaa>Gaa p.K145E FLJ41484_uc010tki.2_5'Flank NM_000820 NP_001137417 Q14393 GAS6_HUMAN Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 1, mRNA. 145 EGF-like 1; calcium-binding (Potential). cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) CAGCCAGCTTTACACAGGCAG 0.632000 92 27 0 0 0.002445 0 0 OR51T1 401665 broad.mit.edu 37 11 4903778 4903778 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:4903778C>T uc010qyp.2 + 0 730 c.730C>T c.(730-732)Ctt>Ttt p.L244F NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA. 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ATTGTTTATTCTTTTCTCCTA 0.448000 27 29 0 0 0.008361 0 0 BCAS3 54828 broad.mit.edu 37 17 58756885 58756885 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:58756885C>T uc002iyv.4 + 1 176 c.67C>T c.(67-69)Cgc>Tgc p.R23C BCAS3_uc010wow.1_Missense_Mutation_p.R19C|BCAS3_uc002iyu.4_Missense_Mutation_p.R23C|BCAS3_uc002iyw.4_Missense_Mutation_p.R19C NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA. 23 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) AGTTGTGGTTCGCCCCCAGGC 0.403000 184 114 0 0 0.003610 0 0 C14orf21 161424 broad.mit.edu 37 14 24772344 24772344 + Missense_Mutation SNP G T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:24772344G>T uc001wol.1 + 5 1271 c.1208G>T c.(1207-1209)gGg>gTg p.G403V C14orf21_uc001wom.1_5'UTR NM_174913 NP_777573 Q86U38 CN021_HUMAN Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA. 403 RNA binding breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3) 17 GBM - Glioblastoma multiforme(265;0.0185) GGCCACCCAGGGGTAGTCATT 0.557000 76 6 0.00116845 0.00201055 0.001168 1 0 TPR 7175 broad.mit.edu 37 1 186291519 186291519 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:186291519T>C uc001grv.3 - 44 6689 c.6392A>G c.(6391-6393)gAc>gGc p.D2131G MIR548F1_uc021pgf.1_Intron NM_003292 NP_003283 P12270 TPR_HUMAN Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA. 2131 carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity p.P2130Q(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) AACTGTTCTGTCTTCATCATC 0.338000 T NTRK1 papillary thyroid 55 12 0 0 0.001855 0 0 PPL 5493 broad.mit.edu 37 16 4933858 4933858 + Missense_Mutation SNP T C C rs111733714 TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:4933858T>C uc002cyd.1 - 21 4888 c.4798A>G c.(4798-4800)Acc>Gcc p.T1600A NM_002705 NP_002696 O60437 PEPL_HUMAN Homo sapiens periplakin (PPL), mRNA. 1600 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TCCGCCACGGTCATGTTCCGC 0.557000 69 20 0 0 0.001882 0 0 CDH7 1005 broad.mit.edu 37 18 63547870 63547870 + Missense_Mutation SNP A C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr18:63547870A>C uc002lkb.3 + 11 2524 c.2098A>C c.(2098-2100)Agc>Cgc p.S700R CDH7_uc002ljz.3_Missense_Mutation_p.S700R NM_004361 NP_387450 Q9ULB5 CADH7_HUMAN Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA. 700 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) AGCTTTTAAAAGCATCCCAGA 0.453000 64 18 0 0 0.007413 0 0 LHCGR 3973 broad.mit.edu 37 2 48915078 48915078 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:48915078G>A uc002rwu.4 - 10 1928 c.1858C>T c.(1858-1860)Cca>Tca p.P620S STON1-GTF2A1L_uc021vhf.1_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA. 620 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TACAGAAATGGATTGGCACAA 0.368000 72 43 0 0 0.003214 0 0 ZNF669 79862 broad.mit.edu 37 1 247264023 247264023 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:247264023G>A uc001ice.2 - 3 1221 c.1048C>T c.(1048-1050)Cgt>Tgt p.R350C ZNF669_uc001icf.2_Missense_Mutation_p.R264C NM_024804 NP_079080 Q96BR6 ZN669_HUMAN Homo sapiens zinc finger protein 669 (ZNF669), transcript variant 1, mRNA. 350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6) 17 all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00427) CCATGGTAACGAAGGGAAGTG 0.408000 162 22 0 0 0.002780 0 0 C3orf56 285311 broad.mit.edu 37 3 126916169 126916169 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:126916169C>T uc003eji.1 + 1 881 c.641C>T c.(640-642)cCc>cTc p.P214L RecName: Full=Putative uncharacterized protein C3orf56; breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) CCCCCTTCCCCCATTGAAGAT 0.632000 9 7 0 0 0.004482 0 0 C14orf49 161176 broad.mit.edu 37 14 95906000 95906000 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:95906000T>C uc001yei.4 - 11 2210 c.2195A>G c.(2194-2196)gAg>gGg p.E732G C14orf49_uc010avi.3_Missense_Mutation_p.E732G NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA. 732 cytoskeletal anchoring at nuclear membrane SUN-KASH complex|integral to membrane|nuclear outer membrane actin binding p.E732Q(1) breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 50 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) CTCTGCCAGCTCCCTGAGCTC 0.637000 42 11 0 0 0.001855 0 0 DPPA5 340168 broad.mit.edu 37 6 74063664 74063664 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:74063664G>A uc003pgs.2 - 1 255 c.204C>T c.(202-204)gtC>gtT p.V68V NM_001025290 NP_001020461 A6NC42 DPPA5_HUMAN Homo sapiens developmental pluripotency associated 5 (DPPA5), mRNA. 68 KH; atypical. multicellular organismal development cytoplasm RNA binding NS(1)|endometrium(1)|lung(5) 7 CGTAAACCACGACCTCGGTGA 0.607000 39 18 0 0 0.008871 0 0 IFT81 28981 broad.mit.edu 37 12 110600794 110600794 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:110600794G>A uc001tqi.3 + 10 1242 c.1112G>A c.(1111-1113)aGc>aAc p.S371N IFT81_uc001tqh.3_Missense_Mutation_p.S371N|IFT81_uc001tqj.3_Non-coding_Transcript|IFT81_uc001tqg.3_Missense_Mutation_p.S371N NM_001143779 NP_054774 Q8WYA0 IFT81_HUMAN Homo sapiens intraflagellar transport 81 homolog (Chlamydomonas) (IFT81), transcript variant 3, mRNA. 371 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 AAGTTAGCCAGCCTAGAGAGA 0.423000 55 8 0 0 0.003080 0 0 KIAA0513 9764 broad.mit.edu 37 16 85105396 85105396 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:85105396T>C uc002fiu.3 + 2 557 c.337T>C c.(337-339)Ttg>Ctg p.L113L KIAA0513_uc010voj.2_Silent_p.L113L|KIAA0513_uc002fit.3_Silent_p.L113L NM_014732 NP_055547 O60268 K0513_HUMAN Homo sapiens KIAA0513 (KIAA0513), mRNA. 113 cytoplasm breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.234) tAGGGAGGACTTGGATCAGGA 0.463000 21 4 0 0 0.000248 0 0 ARMC7 79637 broad.mit.edu 37 17 73125021 73125021 + Missense_Mutation SNP T G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:73125021T>G uc002jmw.1 + 2 787 c.485T>G c.(484-486)aTc>aGc p.I162S ARMC7_uc010wru.1_3'UTR|ARMC7_uc010dga.1_Non-coding_Transcript NM_024585 NP_078861 Q9H6L4 ARMC7_HUMAN Homo sapiens armadillo repeat containing 7 (ARMC7), mRNA. 162 binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3) 9 all_lung(278;0.14)|Lung NSC(278;0.168) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) CTGGCACAGATCTTCCTGGAG 0.701000 21 3 0 0 0.004672 0 0 SNW1 22938 broad.mit.edu 37 14 78201324 78201324 + Missense_Mutation SNP A C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:78201324A>C uc010tvn.1 - 7 767 c.740T>G c.(739-741)aTt>aGt p.I247S SNW1_uc001xuf.3_Missense_Mutation_p.I247S|SNW1_uc010tvm.2_Missense_Mutation_p.I172S Q13573 SNW1_HUMAN Homo sapiens SNW domain containing 1 (SNW1), mRNA. 247 SNW. negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) ACAAGGAGGAATCTTCCACTC 0.328000 135 24 0 0 0.002780 0 0 IFT122 55764 broad.mit.edu 37 3 129221661 129221661 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:129221661A>G uc003eml.3 + 20 2842 c.2636A>G c.(2635-2637)tAc>tGc p.Y879C IFT122_uc003emm.3_Missense_Mutation_p.Y828C|IFT122_uc003emn.3_Missense_Mutation_p.Y769C|IFT122_uc003emo.3_Missense_Mutation_p.Y717C|IFT122_uc003emp.3_Missense_Mutation_p.Y678C|IFT122_uc010htc.3_Missense_Mutation_p.Y820C|IFT122_uc011bky.2_Missense_Mutation_p.Y619C|IFT122_uc011bla.2_Missense_Mutation_p.Y601C|IFT122_uc003emr.3_Missense_Mutation_p.Y580C|IFT122_uc010hte.3_Missense_Mutation_p.Y154C|IFT122_uc003ems.3_Missense_Mutation_p.Y209C|IFT122_uc011bkx.1_Missense_Mutation_p.Y668C|IFT122_uc010htd.1_Missense_Mutation_p.Y307C NM_052985 NP_443711 Q9HBG6 IF122_HUMAN Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA. 828 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 GCTGAGACCTACCTGAAGATG 0.632000 35 25 0 0 0.003954 0 0 GMEB2 26205 broad.mit.edu 37 20 62222007 62222007 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:62222007A>G uc002yfp.1 - 8 1507 c.1028T>C c.(1027-1029)gTg>gCg p.V343A GMEB2_uc002yfo.1_Missense_Mutation_p.V265A|GMEB2_uc002yfq.1_Missense_Mutation_p.V343A NM_012384 NP_036516 Q9UKD1 GMEB2_HUMAN Homo sapiens glucocorticoid modulatory element binding protein 2 (GMEB2), mRNA. 343 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) CGTCATGAGCACGTTGCTGAG 0.652000 21 7 0 0 0.001984 0 0 COL22A1 169044 broad.mit.edu 37 8 139703075 139703075 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:139703075G>A uc003yvd.3 - 35 3244 c.2797C>T c.(2797-2799)Cca>Tca p.P933S COL22A1_uc011ljo.2_Missense_Mutation_p.P233S NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 933 Collagen-like 8.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) ACACTTCCTGGAGGGCCACTG 0.557000 HNSCC(7;0.00092) 22 8 0 0 0.004482 0 0 SF3B3 23450 broad.mit.edu 37 16 70595631 70595631 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr16:70595631T>C uc002ezf.3 + 16 2443 c.2232T>C c.(2230-2232)ggT>ggC p.G744G NM_012426 NP_036558 Q15393 SF3B3_HUMAN Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA. 744 protein complex assembly U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|protein binding p.S743S(1) breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) TTGCATCGGGTTTTGCCTCGG 0.522000 92 17 0 0 0.004990 0 0 CCT3 7203 broad.mit.edu 37 1 156281870 156281870 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:156281870T>C uc001fol.2 - 10 1348 c.1117A>G c.(1117-1119)Acc>Gcc p.T373A CCT3_uc010phj.2_Missense_Mutation_p.T327A|CCT3_uc010phk.2_Missense_Mutation_p.T327A|CCT3_uc001fon.2_Missense_Mutation_p.T335A|CCT3_uc010phl.2_Missense_Mutation_p.T327A NM_005998 NP_005989 P49368 TCPG_HUMAN Homo sapiens chaperonin containing TCP1, subunit 3 (gamma) (CCT3), transcript variant 1, mRNA. 373 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) AGGAGAATGGTGCAGGCCTTG 0.468000 51 27 0 0 0.003755 0 0 ZC3H10 84872 broad.mit.edu 37 12 56514649 56514649 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr12:56514649T>C uc001sjp.1 + 2 492 c.303T>C c.(301-303)gaT>gaC p.D101D ZC3H10_uc021qyw.1_Silent_p.D101D NM_032786 NP_116175 Q96K80 ZC3HA_HUMAN Homo sapiens zinc finger CCCH-type containing 10 (ZC3H10), mRNA. 101 nucleic acid binding|zinc ion binding breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 11 OV - Ovarian serous cystadenocarcinoma(18;0.12) CCAAGGAGGATGAGGATGGCT 0.537000 91 17 0 0 0.007413 0 0 ITPRIP 85450 broad.mit.edu 37 10 106074717 106074717 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:106074717G>A uc001kyf.3 - 2 1546 c.1093C>T c.(1093-1095)Ctt>Ttt p.L365F ITPRIP_uc001kye.3_Missense_Mutation_p.L365F|ITPRIP_uc001kyg.3_Missense_Mutation_p.L365F|ITPRIP_uc021pxv.1_Missense_Mutation_p.L365F NM_033397 NP_203755 Q8IWB1 IPRI_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA. 365 plasma membrane breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 TCCCTGGGAAGGTGGGAGACA 0.562000 34 48 0 0 0.003610 0 0 PRDM14 63978 broad.mit.edu 37 8 70970971 70970971 + Silent SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr8:70970971C>T uc003xym.3 - 5 1492 c.1290G>A c.(1288-1290)agG>agA p.R430R NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN Homo sapiens PR domain containing 14 (PRDM14), mRNA. 430 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) AGGGAAATTTCCTATCGCCCT 0.478000 59 21 0 0 0.002780 0 0 POTEH 23784 broad.mit.edu 37 22 16267081 16267081 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr22:16267081C>T uc010gqp.2 - 8 1420 c.1368G>A c.(1366-1368)atG>atA p.M456I POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.M175I|POTEH_uc002zlj.1_Missense_Mutation_p.M291I NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA. 456 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 CGTGCTTCTTCATTTCTTCTT 0.358000 393 27 0 0 0.004878 0 0 DMXL2 23312 broad.mit.edu 37 15 51790919 51790919 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:51790919T>C uc010ufy.2 - 17 4727 c.4502A>G c.(4501-4503)tAt>tGt p.Y1501C DMXL2_uc002abf.3_Missense_Mutation_p.Y1501C|DMXL2_uc010bfa.3_Intron NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 1501 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) AGCTGGTCCATATTGAGAAAG 0.388000 45 14 0 0 0.001855 0 0 HCP5 10866 broad.mit.edu 37 6 31431776 31431776 + RNA SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:31431776C>T uc003ntl.3 + 1 c.729C>T HCP5_uc021yup.1_Non-coding_Transcript Q6MZN7 HCP5_HUMAN Homo sapiens HLA complex P5 (non-protein coding) (HCP5), non-coding RNA. defense response urinary_tract(1) 1 gtccaattcccctgtggcagc 0.532000 77 37 0 0 0.005524 0 0 FCER1A 2205 broad.mit.edu 37 1 159273870 159273870 + Missense_Mutation SNP A C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr1:159273870A>C uc001ftq.3 + 3 326 c.229A>C c.(229-231)Agt>Cgt p.S77R NM_002001 NP_001992 P12319 FCERA_HUMAN Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA. 77 Ig-like 1. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) GACAAATTCAAGTTTGAATAT 0.393000 98 15 0 0 0.003163 0 0 LTBP4 8425 broad.mit.edu 37 19 41125251 41125251 + Splice_Site SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:41125251G>A uc002ooh.1 + 26 3269 c.3269_splice c.e26-1 p.D1090_splice LTBP4_uc002oog.1_Splice_Site_p.D1053_splice|LTBP4_uc002ooi.1_Splice_Site_p.D1023_splice|LTBP4_uc002ooj.1_Splice_Site|LTBP4_uc002ook.1_Splice_Site_p.D225_splice|LTBP4_uc002ool.1_Splice_Site_p.D103_splice|LTBP4_uc002oom.1_Splice_Site|LTBP4_uc010xvp.1_Splice_Site NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA. 1091 Cys-rich.|EGF-like 12; calcium-binding (Potential). growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCTGCTTACAGATGTGAACGA 0.468000 81 38 0 0 0.002852 0 0 SH2D7 646892 broad.mit.edu 37 15 78393753 78393753 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr15:78393753G>A uc010blb.1 + 4 1158 c.1158G>A c.(1156-1158)agG>agA p.R386R NM_001101404 NP_001094874 A6NKC9 SH2D7_HUMAN Homo sapiens SH2 domain containing 7 (SH2D7), mRNA. 386 endometrium(2)|kidney(2)|lung(3) 7 GCCCAGCCAGGGCCCCACATC 0.612000 11 8 0 0 0.004482 0 0 CD97 976 broad.mit.edu 37 19 14512300 14512300 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:14512300C>T uc002myl.3 + 9 1380 c.1000C>T c.(1000-1002)Ctt>Ttt p.L334F CD97_uc002mym.3_Missense_Mutation_p.L285F|CD97_uc002myn.3_Missense_Mutation_p.L241F NM_078481 NP_510966 P48960 CD97_HUMAN Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA. 334 cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GCTCTCAAACCTTGAAGATAT 0.567000 35 15 0 0 0.006122 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702556 27702556 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr10:27702556G>A uc001itu.2 - 0 742 c.624C>T c.(622-624)ttC>ttT p.F208F NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 208 spermatid development integral to membrane hedgehog receptor activity p.F208F(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GAAGCGAGACGAAATTGGCTT 0.632000 33 45 0 0 0.003610 0 0 ZNF652 22834 broad.mit.edu 37 17 47376209 47376209 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:47376209G>A uc002iov.4 - 5 1851 c.1387C>T c.(1387-1389)Cac>Tac p.H463Y ZNF652_uc002iow.3_Missense_Mutation_p.H463Y|ZNF652_uc002iou.4_Non-coding_Transcript NM_001145365 NP_055712 Q9Y2D9 ZN652_HUMAN Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA. 463 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) TCGCCTGTGTGAGTTCTGCGG 0.512000 27 14 0 0 0.003163 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68703912 68703912 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:68703912A>G uc001ook.1 + 12 2066 c.1964A>G c.(1963-1965)aAc>aGc p.N655S IGHMBP2_uc001ool.1_Missense_Mutation_p.N279S|IGHMBP2_uc001oom.1_Missense_Mutation_p.N233S NM_002180 NP_002171 P38935 SMBP2_HUMAN Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA. 655 DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TCCCATGAGAACTCCCAGGGT 0.572000 56 11 0 0 0.001368 0 0 BPTF 2186 broad.mit.edu 37 17 65890239 65890239 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:65890239T>C uc002jgf.3 + 6 2562 c.2501T>C c.(2500-2502)gTt>gCt p.V834A BPTF_uc002jge.3_Missense_Mutation_p.V960A|BPTF_uc010wqm.1_Missense_Mutation_p.V897A NM_182641 NP_872579 Q12830 BPTF_HUMAN Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA. 960 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex|cytoplasm sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GTTAAACCAGTTGTGATGCTA 0.403000 93 19 0 0 0.008871 0 0 BNIP1 662 broad.mit.edu 37 5 172585810 172585810 + Silent SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:172585810A>G uc003mci.4 + 4 566 c.462A>G c.(460-462)aaA>aaG p.K154K BNIP1_uc003mcj.4_Silent_p.K111K|BNIP1_uc003mck.4_Intron|BNIP1_uc003mcl.4_Intron|BNIP1_uc021yhw.1_Silent_p.K24K NM_013979 NP_053582 Q12981 SEC20_HUMAN Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA. 111 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport SNARE complex|integral to endoplasmic reticulum membrane|nuclear envelope protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ATCTAGAGAAAGCAGAACTTC 0.428000 34 11 0 0 0.000978 0 0 TCTE1 202500 broad.mit.edu 37 6 44255286 44255286 + Splice_Site SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:44255286T>C uc003oxi.2 - 2 433 c.277_splice c.e2+1 p.K93_splice TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA. 93 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACAGACTCACTCTGGAAGTTC 0.597000 42 6 0 0 0.001168 0 0 CCBL1 883 broad.mit.edu 37 9 131598135 131598136 + Silent DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:131598135_131598136GG>AA uc004bwh.3 - 8 962_963 c.777_778CC>TT c.(775-780)gtcctg>gtTTtg p.259_260VL>VL CCBL1_uc004bwg.3_Non-coding_Transcript|CCBL1_uc010myn.3_Silent_p.259_260VL>VL|CCBL1_uc004bwj.3_Silent_p.209_210VL>VL|CCBL1_uc004bwi.3_Non-coding_Transcript|CCBL1_uc011mbl.2_Silent_p.353_354VL>VL NM_004059 NP_004050 Q16773 KAT1_HUMAN Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA. 259 L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) TCTGGACCCAGGACCCAGCCCA 0.619000 16 4 0 0 0.004672 0 0 ABCB11 8647 broad.mit.edu 37 2 169814520 169814520 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:169814520C>T uc002ueo.1 - 18 2423 c.2297G>A c.(2296-2298)gGg>gAg p.G766E ABCB11_uc010zda.1_Missense_Mutation_p.G208E|ABCB11_uc010zdb.1_Missense_Mutation_p.G242E NM_003742 NP_003733 O95342 ABCBB_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA. 766 ABC transmembrane type-1 2. bile acid biosynthetic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TGTGACTGTCCCGTTCACAGC 0.458000 31 15 0 0 0.002450 0 0 VIT 5212 broad.mit.edu 37 2 36943526 36943526 + Missense_Mutation SNP G C C rs148935502 TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:36943526G>C uc002rpl.3 + 1 315 c.13G>C c.(13-15)Gtt>Ctt p.V5L VIT_uc002rpk.3_Missense_Mutation_p.V5L|VIT_uc010ynf.2_5'UTR|VIT_uc002rpm.3_Missense_Mutation_p.V5L|VIT_uc010ezv.3_Missense_Mutation_p.V5L|VIT_uc010ezw.3_Missense_Mutation_p.V5L NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN Homo sapiens vitrin (VIT), transcript variant 1, mRNA. 5 proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) GAGGACTGTTGTTCTCACTAT 0.368000 73 12 0 0 0.001368 0 0 CIAO1 9391 broad.mit.edu 37 2 96937022 96937022 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:96937022T>C uc002svs.3 + 6 1158 c.953T>C c.(952-954)cTa>cCa p.L318P NM_004804 NP_004795 O76071 CIAO1_HUMAN Homo sapiens cytosolic iron-sulfur protein assembly 1 (CIAO1), mRNA. 318 chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter MMXD complex protein binding endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1) 5 GAGCCAGGGCTACTGGCCTCC 0.592000 45 13 0 0 0.003163 0 0 USP20 10868 broad.mit.edu 37 9 132632009 132632009 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:132632009A>G uc004bys.2 + 13 1662 c.1451A>G c.(1450-1452)gAc>gGc p.D484G USP20_uc004byr.2_Missense_Mutation_p.D484G|USP20_uc004byt.1_Missense_Mutation_p.D484G NM_001110303 NP_006667 Q9Y2K6 UBP20_HUMAN Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA. 484 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) GGAAAGGAGGACCTGGCCAAG 0.587000 76 12 0 0 0.003163 0 0 POTEH 23784 broad.mit.edu 37 22 16267094 16267094 + Splice_Site SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr22:16267094A>G uc010gqp.2 - 9 1406 c.1354_splice c.e9-1 p.V452_splice POTEH_uc002zlg.1_Splice_Site|POTEH_uc002zlh.1_Splice_Site_p.V171_splice|POTEH_uc002zlj.1_Splice_Site_p.V287_splice NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA. 452 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TTCTTCTTCAACCTTGAATGA 0.333000 304 35 0 0 0.003610 0 0 GNAS 2778 broad.mit.edu 37 20 57415886 57415886 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr20:57415886T>C uc021wfl.1 + 0 1092 c.725T>C c.(724-726)aTc>aCc p.I242T GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Missense_Mutation_p.I242T|GNAS_uc010gjq.3_5'Flank NM_016592 NP_057676 P63092 GNAS2_HUMAN Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA. 0 T -> I (in AHO). G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CCCATCCCCATCCGGCGTCAC 0.617000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 29 9 0 0 0.004482 0 0 NRSN1 140767 broad.mit.edu 37 6 24145999 24145999 + Missense_Mutation SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:24145999T>C uc010jpq.1 + 3 650 c.413T>C c.(412-414)gTg>gCg p.V138A NM_080723 NP_542454 Q8IZ57 NRSN1_HUMAN Homo sapiens neurensin 1 (NRSN1), mRNA. 138 V -> A (in Ref. 1; AAL14639). nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 CTGATGTCGGTGTTTGTAAAG 0.493000 79 5 0 0 0.000602 0 0 MTUS2 23281 broad.mit.edu 37 13 29933398 29933398 + Splice_Site SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr13:29933398G>A uc001usl.4 + 6 2994 c.2936_splice c.e6-1 p.G979_splice NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 969 Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CTTTCTCACAGGATACCCAAA 0.547000 6 3 0 0 0.004672 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209150622 209150622 + Silent SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr2:209150622T>C uc002vcz.3 + 5 944 c.786T>C c.(784-786)cgT>cgC p.R262R PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Silent_p.R262R|PIKFYVE_uc002vcw.3_Silent_p.R262R|PIKFYVE_uc002vcv.3_Silent_p.R165R|PIKFYVE_uc002vcx.3_Silent_p.R176R NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA. 262 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 AAGCCAGCCGTAACATATTTT 0.408000 65 17 0 0 0.007413 0 0 LETM1 3954 broad.mit.edu 37 4 1818528 1818528 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr4:1818528G>A uc003gdv.3 - 11 2154 c.1857C>T c.(1855-1857)atC>atT p.I619I NM_012318 NP_036450 O95202 LETM1_HUMAN Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA. 619 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding p.I619V(1) breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) TCAAGCCATCGATCTGCCCGA 0.557000 31 23 0 0 0.001882 0 0 ILF3 3609 broad.mit.edu 37 19 10793271 10793271 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:10793271A>G uc002mpn.3 + 12 1756 c.1439A>G c.(1438-1440)gAg>gGg p.E480G ILF3_uc010xli.1_Missense_Mutation_p.E78G|ILF3_uc002mpm.2_Missense_Mutation_p.E480G|ILF3_uc002mpl.2_Missense_Mutation_p.E480G|ILF3_uc002mpk.2_Missense_Mutation_p.E480G|ILF3_uc002mpo.3_Missense_Mutation_p.E480G|ILF3_uc002mpp.3_Missense_Mutation_p.E301G NM_012218 NP_036350 Q12906 ILF3_HUMAN Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA. 480 M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) AGCAAGGGGGAGGACTCGGCT 0.647000 44 6 0 0 0.001168 0 0 KIAA0947 23379 broad.mit.edu 37 5 5457825 5457826 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr5:5457825_5457826CC>TT uc003jdm.4 + 11 1294_1295 c.1072_1073CC>TT c.(1072-1074)ccg>TTg p.P358L NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN Homo sapiens KIAA0947 (KIAA0947), mRNA. 358 Pro-rich. p.P358Q(3) 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 ATCACCTCACCCGGGTTCCTTA 0.455000 199 70 0 0 0.004672 0 0 LOC146880 146880 broad.mit.edu 37 17 62750721 62750721 + RNA SNP T C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:62750721T>C uc010wqc.2 - 8 c.1893A>G Homo sapiens Rho GTPase activating protein 27 pseudogene (LOC146880), non-coding RNA. ACAACCTGAGTCTGTTCATCT 0.453000 196 8 0 0 0.000978 0 0 PODXL 5420 broad.mit.edu 37 7 131195932 131195932 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:131195932C>T uc003vqw.4 - 1 619 c.361G>A c.(361-363)Gag>Aag p.E121K PODXL_uc003vqx.4_Missense_Mutation_p.E121K NM_001018111 NP_001018121 O00592 PODXL_HUMAN Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA. 121 Thr-rich. cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) TTGGGGCTCTCGATGGTGGTA 0.557000 138 232 0 0 0.003610 0 0 LILRB1 10859 broad.mit.edu 37 19 55142722 55142723 + Splice_Site DNP GG AA AA TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:55142722_55142723GG>AA uc002qgj.3 + 4 375 c.35_splice c.e4-1 p.G12_splice LILRB1_uc010erp.1_Splice_Site_p.G29_splice|LILRB1_uc002qgl.3_Splice_Site_p.G12_splice|LILRB1_uc002qgk.3_Splice_Site_p.G12_splice|LILRB1_uc002qgm.3_Splice_Site_p.G12_splice|LILRB1_uc010erq.3_Splice_Site_p.G12_splice|LILRB1_uc010err.3_Splice_Site 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. 12 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) TCTCTTCCAGGGCTGAGTCTGG 0.663000 HNSCC(37;0.09) 35 17 0 0 0.004672 0 0 SNX6 58533 broad.mit.edu 37 14 35077236 35077236 + Splice_Site SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr14:35077236G>A uc001wsf.1 - 4 314 c.306_splice c.e4+1 p.I102_splice SNX6_uc001wse.1_Splice_Site|SNX6_uc010tpm.1_Splice_Site|SNX6_uc010amm.1_Splice_Site NM_152233 NP_067072 Q9UNH7 SNX6_HUMAN Homo sapiens sorting nexin 6 (SNX6), transcript variant 2, mRNA. 90 PX.|Phosphatidylinositol bisphosphate binding (By similarity). cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi cytoplasmic vesicle membrane|early endosome membrane|nucleus phosphatidylinositol binding|protein homodimerization activity endometrium(4)|lung(1)|ovary(1) 6 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.0245) CAATACTTACGATATAACCTG 0.318000 39 23 0 0 0.002299 0 0 SHC3 53358 broad.mit.edu 37 9 91690088 91690088 + Missense_Mutation SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr9:91690088C>T uc004aqf.2 - 3 972 c.665G>A c.(664-666)gGa>gAa p.G222E NM_016848 NP_058544 Q92529 SHC3_HUMAN Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA. 222 PID. Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 GATGCTCATTCCCGCAAACTG 0.502000 56 21 0 0 0.001523 0 0 DST 667 broad.mit.edu 37 6 56510976 56510976 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:56510976A>G uc021zay.1 - 10 1172 c.1046T>C c.(1045-1047)cTt>cCt p.L349P DST_uc011dxl.1_Missense_Mutation_p.L338P|DST_uc021zaz.1_Missense_Mutation_p.L309P|DST_uc003pde.2_Missense_Mutation_p.L425P NM_001723 NP_001714 Q03001 DYST_HUMAN Homo sapiens dystonin (DST), transcript variant 1e, mRNA. 309 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTGATTATAAAGTGCCTAAAA 0.299000 8 3 0 0 0.004672 0 0 CST6 1474 broad.mit.edu 37 11 65780335 65780335 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr11:65780335G>A uc001ogr.3 + 1 333 c.279G>A c.(277-279)atG>atA p.M93I CST6_uc001ogs.1_Missense_Mutation_p.M3I NM_001323 NP_001314 Q15828 CYTM_HUMAN Homo sapiens cystatin E/M (CST6), mRNA. 93 anatomical structure morphogenesis extracellular region cysteine-type endopeptidase inhibitor activity large_intestine(1)|lung(1)|ovary(1) 3 CGATGGAGATGGGGAGCACAG 0.627000 30 9 0 0 0.006214 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101573519 101573519 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr3:101573519A>G uc003dvp.3 + 5 1550 c.1435A>G c.(1435-1437)Aat>Gat p.N479D NFKBIZ_uc003dvo.3_Missense_Mutation_p.N379D|NFKBIZ_uc010hpo.3_Missense_Mutation_p.N379D|NFKBIZ_uc003dvq.3_Missense_Mutation_p.N357D NM_031419 NP_001005474 Q9BYH8 IKBZ_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA. 479 Interaction with NFKB1/p50 (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 TAAAGAGCACAATGGACAGGT 0.453000 61 15 0 0 0.003163 0 0 CUL9 23113 broad.mit.edu 37 6 43171673 43171673 + Silent SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:43171673G>A uc003ouk.3 + 19 4182 c.4107G>A c.(4105-4107)aaG>aaA p.K1369K CUL9_uc003oul.3_Silent_p.K1369K|CUL9_uc010jyk.3_Silent_p.K521K NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN Homo sapiens cullin 9 (CUL9), mRNA. 1369 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CACTGGGCAAGACCTGCTGGG 0.577000 64 32 0 0 0.008361 0 0 PRSS1 5644 broad.mit.edu 37 7 142458472 142458473 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:142458472_142458473CC>TT uc003wak.2 + 1 124_125 c.107_108CC>TT c.(106-108)ccc>cTT p.P36L TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Intron|PRSS1_uc003wam.2_5'Flank NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 36 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) AATTCTGTCCCCTACCAGGTGT 0.530000 266 32 0 0 0.004672 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31692118 31692118 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr21:31692118G>A uc002ynw.3 - 0 490 c.236C>T c.(235-237)tCt>tTt p.S79F NM_203405 NP_981950 Q6PEX3 KR261_HUMAN Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA. 79 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 AGAACCGCAAGAGGTTTCAAG 0.537000 90 40 0 0 0.007835 0 0 NRM 11270 broad.mit.edu 37 6 30656531 30656531 + Missense_Mutation SNP G C C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:30656531G>C uc003nrc.3 - 3 1003 c.696C>G c.(694-696)caC>caG p.H232Q PPP1R18_uc003nra.3_5'Flank|PPP1R18_uc003nrb.4_5'Flank|NRM_uc003nre.3_Missense_Mutation_p.H120Q NM_007243 NP_009174 Q8IXM6 NRM_HUMAN Homo sapiens nurim (nuclear envelope membrane protein) (NRM), mRNA. 232 Leu-rich. integral to membrane|nuclear inner membrane large_intestine(1)|lung(2) 3 GATCAAGCCCGTGAGCCAGGC 0.622000 47 19 0 0 0.006122 0 0 FRMD1 79981 broad.mit.edu 37 6 168467510 168467510 + Splice_Site SNP C T T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:168467510C>T uc003qwo.4 - 4 450 c.385_splice c.e4-1 p.G129_splice FRMD1_uc003qwm.4_5'Flank|FRMD1_uc011egs.2_Splice_Site|FRMD1_uc011egt.2_Splice_Site_p.G41_splice|FRMD1_uc003qwn.4_Splice_Site_p.G61_splice NM_024919 NP_079195 Q8N878 FRMD1_HUMAN Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA. 129 FERM. cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) TTTCTCATTTCCCTAGTGGGG 0.577000 21 15 0 0 0.003163 0 0 FBXO46 23403 broad.mit.edu 37 19 46215522 46215522 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:46215522A>G uc002pcz.3 - 1 1355 c.1232T>C c.(1231-1233)cTc>cCc p.L411P FBXO46_uc002pcy.3_Missense_Mutation_p.L411P|FBXO46_uc021uvz.1_Missense_Mutation_p.L411P NM_001080469 NP_001073938 Q6PJ61 FBX46_HUMAN Homo sapiens F-box protein 46 (FBXO46), mRNA. 411 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) GCGGTTCTGGAGAAAGAAGAG 0.706000 22 6 0 0 0.001168 0 0 DLX4 1748 broad.mit.edu 37 17 48051170 48051171 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr17:48051170_48051171CC>TT uc002ipv.3 + 2 857_858 c.586_587CC>TT c.(586-588)ccc>TTc p.P196F DLX4_uc002ipw.3_Missense_Mutation_p.P124F|DLX4_uc021tzu.1_3'UTR NM_138281 NP_612138 Q92988 DLX4_HUMAN Homo sapiens distal-less homeobox 4 (DLX4), transcript variant 1, mRNA. 196 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3) 10 CTCTGTGTCTCCCTGCTCCCCA 0.579000 56 20 0 0 0.004672 0 0 NOS3 4846 broad.mit.edu 37 7 150706067 150706067 + Missense_Mutation SNP G A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:150706067G>A uc003wif.3 + 17 2458 c.2162G>A c.(2161-2163)cGa>cAa p.R721Q NOS3_uc011kuy.2_Missense_Mutation_p.R515Q NM_000603 NP_000594 P29474 NOS3_HUMAN Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA. 721 anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia Golgi membrane|caveola|cytoskeleton|cytosol FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GCCGCCGCCCGAGACATCTTC 0.706000 OREG0018442 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 72 17 0 0 0.008871 0 0 XRCC1 7515 broad.mit.edu 37 19 44058832 44058832 + Missense_Mutation SNP C A A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr19:44058832C>A uc002owt.2 - 3 500 c.380G>T c.(379-381)cGg>cTg p.R127L XRCC1_uc010xwp.1_Missense_Mutation_p.R96L NM_006297 NP_006288 P18887 XRCC1_HUMAN Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA. 127 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) AATTTTGACCCGGTCCCAGCG 0.612000 Other BER factors 167 45 1.03325e-14 1.81773e-14 0.002852 1 0 GBX1 2636 broad.mit.edu 37 7 150845860 150845860 + Missense_Mutation SNP A G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr7:150845860A>G uc011kvg.2 - 1 1140 c.908T>C c.(907-909)gTg>gCg p.V303A NM_001098834 NP_001092304 Q14549 GBX1_HUMAN Homo sapiens gastrulation brain homeobox 1 (GBX1), mRNA. 303 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(5)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTTGACCTGCACCTCACTGAG 0.532000 117 17 0 0 0.007413 0 0 ARID1B 57492 broad.mit.edu 37 6 157405953 157405954 + Frame_Shift_Ins INS - G G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63a4bf4b-fddd-437d-a309-e01516816712 ae160570-133c-4b79-a26c-89b005b633cc g.chr6:157405953_157405954insG uc003qqp.3 + 4 2156_2157 c.2156_2157insG c.(2155-2157)ccgfs p.P719fs ARID1B_uc003qqo.3_Frame_Shift_Ins_p.P732fs|ARID1B_uc003qqn.3_Frame_Shift_Ins_p.P719fs|ARID1B_uc003qqq.1_Frame_Shift_Ins_p.P103fs NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA. 719 Ser-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TCCAGCATCCCGGGGGGCCCAT 0.599 --- 28 --- --- 16 ---