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 HUNK 30811 broad.mit.edu 37 21 33371051 33371051 + Missense_Mutation SNP C T T rs141493785 by1000genomes TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr21:33371051C>T uc002yph.3 + 10 2059 c.1699C>T c.(1699-1701)Cgc>Tgc p.R567C NM_014586 NP_055401 P57058 HUNK_HUMAN Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA. 567 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 GTCTGTGGATCGCGACGACCA 0.602000 43 20 0 0 1 0 0 EPS8L1 54869 broad.mit.edu 37 19 55597236 55597236 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:55597236G>A uc002qis.4 + 14 1517 c.1413G>A c.(1411-1413)gaG>gaA p.E471E EPS8L1_uc010ess.1_Silent_p.E485E|EPS8L1_uc010yfr.2_Silent_p.E407E|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Silent_p.E344E|EPS8L1_uc002qiv.3_Silent_p.E149E|EPS8L1_uc002qiw.3_Silent_p.E250E NM_133180 NP_573441 Q8TE68 ES8L1_HUMAN Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA. 471 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CAGAATCTGAGCCTCAGCTGG 0.582000 44 29 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124351912 124351912 + Silent SNP C A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:124351912C>A uc001lgk.1 + 19 2407 c.2301C>A c.(2299-2301)gcC>gcA p.A767A DMBT1_uc001lgl.1_Silent_p.A757A|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Silent_p.A767A|DMBT1_uc021qag.1_Silent_p.A757A|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Silent_p.A767A|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.A380A NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 767 SRCR 6. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCAATGATGCCAATGTGGTCT 0.607000 285 8 1.06961e-07 1.08456e-07 1 1 0 EBF3 253738 broad.mit.edu 37 10 131666171 131666171 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:131666171G>A uc021qav.1 - 8 819 c.718C>T c.(718-720)Ccg>Tcg p.P240S EBF3_uc001lki.2_Missense_Mutation_p.P254S NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN Homo sapiens early B-cell factor 3 (EBF3), mRNA. 263 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TTGATGCACGGAGTGGCTGCT 0.632000 44 13 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71127835 71127835 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:71127835C>T uc002ezr.3 - 10 1482 c.1331G>A c.(1330-1332)cGa>cAa p.R444Q HYDIN_uc010cfz.2_Missense_Mutation_p.R189Q|HYDIN_uc021tkq.1_Missense_Mutation_p.R444Q|HYDIN_uc010vmc.2_Missense_Mutation_p.R461Q|HYDIN_uc010vmd.2_Missense_Mutation_p.R471Q|HYDIN_uc002ezw.4_Missense_Mutation_p.R461Q NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 444 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ACGGATTTCTCGGCCTAGAAA 0.393000 21 16 0 0 1 0 0 BTNL2 56244 broad.mit.edu 37 6 32372984 32372984 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:32372984G>A uc003obg.1 - 1 159 c.159C>T c.(157-159)ctC>ctT p.L53L BTNL2_uc010jty.1_5'UTR|BTNL2_uc010jtz.1_Non-coding_Transcript|BTNL2_uc010jua.1_Intron NM_019602 NP_062548 Q9UIR0 BTNL2_HUMAN Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA. 53 Ig-like V-type 1. integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 TCCTCTTGGGGAGTAGCTGGC 0.532000 59 47 0 0 1 0 0 KLK7 5650 broad.mit.edu 37 19 51485640 51485640 + Missense_Mutation SNP G C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:51485640G>C uc002puo.3 - 1 118 c.16C>G c.(16-18)Ctc>Gtc p.L6V KLK7_uc002pup.3_Missense_Mutation_p.L6V|KLK7_uc021uyj.1_Missense_Mutation_p.S48C|KLK7_uc010eok.3_Intron NM_139277 NP_001193982 P49862 KLK7_HUMAN Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA. 6 epidermis development|proteolysis extracellular region serine-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) AGGGGCAGGAGAAGGGATCTT 0.597000 5 4 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81654585 81654585 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:81654585C>T uc021ssk.1 - 3 370 c.370G>A c.(370-372)Gaa>Aaa p.E124K TMC3_uc021ssj.1_Missense_Mutation_p.E124K|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.E124K NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN Homo sapiens transmembrane channel-like 3 (TMC3), mRNA. 124 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 ATCCTCATTTCCCAGGGAATG 0.483000 12 5 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146254267 146254267 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:146254267C>T uc003qlf.3 - 13 3437 c.3038G>A c.(3037-3039)gGa>gAa p.G1013E SHPRH_uc003qle.3_Missense_Mutation_p.G1022E|SHPRH_uc003qlg.1_Missense_Mutation_p.G569E|SHPRH_uc003qlh.3_5'UTR NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA. 1013 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) ACATTCAGTTCCACATTTCTT 0.393000 29 13 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45931079 45931079 + Splice_Site SNP G T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:45931079G>T uc010gzz.3 + 9 1046 c.899_splice c.e9-1 p.D300_splice FBLN1_uc003bgg.1_Splice_Site_p.D262_splice|FBLN1_uc003bgh.3_Splice_Site_p.D262_splice|FBLN1_uc003bgi.1_Splice_Site_p.D262_splice|FBLN1_uc003bgj.1_Splice_Site_p.D262_splice NM_001996 NP_001987 P23142 FBLN1_HUMAN Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA. 262 EGF-like 3; calcium-binding (Potential). interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TGATGTACCAGATATTGACGA 0.413000 53 17 2.35188e-11 2.40151e-11 1 1 0 MUC16 94025 broad.mit.edu 37 19 9067445 9067445 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:9067445G>A uc002mkp.3 - 2 20205 c.20001C>T c.(19999-20001)gaC>gaT p.D6667D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6669 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 ATACGATGGGGTCCTGGGAGG 0.507000 62 30 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139703086 139703086 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:139703086G>A uc003yvd.3 - 35 3233 c.2786C>T c.(2785-2787)cCc>cTc p.P929L COL22A1_uc011ljo.2_Missense_Mutation_p.P229L NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 929 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) AGGGCCACTGGGACCGGGGGC 0.562000 HNSCC(7;0.00092) 12 8 0 0 1 0 0 ZIC2 7546 broad.mit.edu 37 13 100635317 100635317 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr13:100635317C>T uc001von.3 + 0 1292 c.999C>T c.(997-999)ttC>ttT p.F333F NM_007129 NP_009060 O95409 ZIC2_HUMAN Homo sapiens Zic family member 2 (ZIC2), mRNA. 333 brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AGAAACCCTTCCCCTGCCCCT 0.612000 78 41 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 662587 662587 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:662587C>T uc001qii.1 + 13 1498 c.1498C>T c.(1498-1500)Cca>Tca p.P500S B4GALNT3_uc001qij.1_Missense_Mutation_p.P403S|B4GALNT3_uc001qik.1_Missense_Mutation_p.P49S NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA. 500 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) AGCGTCCTTCCCAGGGAGGAC 0.627000 68 20 0 0 1 0 0 ORC6 23594 broad.mit.edu 37 16 46729582 46729582 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:46729582C>T uc002eeh.3 + 4 618 c.558C>T c.(556-558)gtC>gtT p.V186V ORC6_uc010cbe.2_Silent_p.V137V|ORC6_uc021thp.1_Silent_p.V137V NM_014321 NP_055136 Q9Y5N6 ORC6_HUMAN Homo sapiens origin recognition complex, subunit 6 (ORC6), transcript variant 1, mRNA. 186 DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint nuclear origin of replication recognition complex|nucleoplasm DNA binding|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 8 GACAGCAGGTCGACAGTAAGT 0.358000 25 7 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79707983 79707983 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:79707983G>A uc011dyp.2 - 17 2231 c.2005C>T c.(2005-2007)Cgt>Tgt p.R669C PHIP_uc003pir.3_Missense_Mutation_p.R669C NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA. 669 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CTACTTAAACGGCTGGTATTA 0.378000 36 7 0 0 1 0 0 SPATA20 64847 broad.mit.edu 37 17 48632937 48632937 + Nonsense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:48632937C>T uc002ird.3 + 16 2464 c.2323C>T c.(2323-2325)Cag>Tag p.Q775* SPATA20_uc002irc.3_Nonsense_Mutation_p.Q426*|SPATA20_uc002ire.3_Nonsense_Mutation_p.Q715*|SPATA20_uc002irf.3_Nonsense_Mutation_p.Q759*|SPATA20_uc002irg.3_Non-coding_Transcript NM_022827 NP_073738 Q8TB22 SPT20_HUMAN Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA. 759 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) GTTGGAAGACCAGGCCACTGC 0.572000 41 23 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 30961171 30961171 + Silent SNP T C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr21:30961171T>C uc002yno.1 - 10 2021 c.1557A>G c.(1555-1557)gaA>gaG p.E519E GRIK1_uc002ynn.3_Silent_p.E504E|GRIK1_uc011acs.2_Silent_p.E519E|GRIK1_uc011act.2_Intron|GRIK1_uc010glq.1_Silent_p.E362E NM_000830 NP_000821 P39086 GRIK1_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA. 519 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GATCTATGAGTTCTTTAACCA 0.363000 62 14 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124757290 124757290 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:124757290G>A uc001qbg.3 - 13 2302 c.2162C>T c.(2161-2163)cCt>cTt p.P721L ROBO4_uc010sas.2_Missense_Mutation_p.P576L|ROBO4_uc001qbh.2_Missense_Mutation_p.P611L|ROBO4_uc001qbi.3_Missense_Mutation_p.P279L NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA. 721 Pro/Ser-rich. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) AGTTTCATGAGGAAAGAGGGG 0.617000 50 6 0 0 1 0 0 RPN2 6185 broad.mit.edu 37 20 35857094 35857094 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:35857094C>T uc002xgp.3 + 11 1745 c.1441C>T c.(1441-1443)Ctc>Ttc p.L481F RPN2_uc010gfw.2_Missense_Mutation_p.L324F|RPN2_uc002xgq.3_Missense_Mutation_p.L449F|RPN2_uc021wdb.1_Missense_Mutation_p.L263F NM_002951 NP_002942 P04844 RPN2_HUMAN Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA. 481 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) CACCTACACTCTCTACTTAAT 0.483000 39 17 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123097545 123097545 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:123097545C>T uc003vkn.3 - 11 2660 c.2083G>A c.(2083-2085)Gat>Aat p.D695N IQUB_uc011kny.2_Missense_Mutation_p.D28N|IQUB_uc003vko.3_Missense_Mutation_p.D695N|IQUB_uc010lkt.3_Non-coding_Transcript NM_178827 NP_849149 Q8NA54 IQUB_HUMAN Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA. 695 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 ATGACCAGATCACTGAGATTG 0.468000 187 45 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169698418 169698418 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:169698418G>A uc001ggm.4 - 6 1156 c.999C>T c.(997-999)ttC>ttT p.F333F C1orf112_uc001ggj.3_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN Homo sapiens selectin E (SELE), mRNA. 333 Sushi 3. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) CCTCACAGGTGAAGTTGCAGG 0.552000 29 23 0 0 1 0 0 EFNB3 1949 broad.mit.edu 37 17 7612692 7612692 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:7612692C>T uc002gis.3 + 4 1218 c.821C>T c.(820-822)tCt>tTt p.S274F NM_001406 NP_001397 Q15768 EFNB3_HUMAN Homo sapiens ephrin-B3 (EFNB3), mRNA. 274 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) AGGGGAGGGTCTCTGGGCCTG 0.716000 19 5 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70505136 70505136 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:70505136C>T uc011caq.2 - 2 942 c.826G>A c.(826-828)Gat>Aat p.D276N UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.D75N|UGT2A1_uc021xox.1_Missense_Mutation_p.D75N|UGT2A1_uc010iht.3_Intron NM_001252274 NP_001239203 Q9Y4X1 UD2A1_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA. 66 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 ACAGGAGAATCGGGATTGGAG 0.353000 86 14 0 0 1 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104263709 104263709 + Splice_Site SNP A G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:104263709A>G uc001yof.1 - 2 440 c.157_splice c.e2+1 p.E53_splice PPP1R13B_uc001yog.1_Splice_Site NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA. 53 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) AATACATACCATTTCCCCTCC 0.388000 52 30 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108812287 108812287 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:108812287C>T uc003dxl.3 - 7 772 c.685G>A c.(685-687)Gag>Aag p.E229K MORC1_uc011bhn.2_Missense_Mutation_p.E229K NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 229 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding p.L228L(1) breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 ACATACTCCTCCAGAGCTCCA 0.433000 22 15 0 0 1 0 0 CHRM5 1133 broad.mit.edu 37 15 34355172 34355172 + Missense_Mutation SNP A G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:34355172A>G uc001zhk.1 + 2 924 c.254A>G c.(253-255)aAc>aGc p.N85S CHRM5_uc001zhl.1_Missense_Mutation_p.N85S|CHRM5_uc021sir.1_Missense_Mutation_p.N85S NM_012125 NP_036257 P08912 ACM5_HUMAN Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA. 85 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) TTCTCCATGAACCTCTACACC 0.507000 22 8 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2923823 2923823 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:2923823G>A uc010ckd.3 + 18 1775 c.1685G>A c.(1684-1686)cGa>cAa p.R562Q RAP1GAP2_uc010cke.3_Missense_Mutation_p.R547Q NM_015085 NP_055900 Q684P5 RPGP2_HUMAN Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA. 562 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 CCCATCAAGCGACGCTCGGGG 0.622000 25 5 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136589396 136589396 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:136589396C>T uc003qgx.1 - 9 2554 c.2301G>A c.(2299-2301)aaG>aaA p.K767K BCLAF1_uc011edb.1_Silent_p.K95K|BCLAF1_uc003qgy.1_Silent_p.K765K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.K765K|BCLAF1_uc003qgw.1_Silent_p.K594K NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 767 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCTTACTCTCCTTTTCTTCTC 0.388000 67 4 0 0 1 0 0 SLC2A7 155184 broad.mit.edu 37 1 9067432 9067432 + Missense_Mutation SNP C T T rs144505778 byFrequency TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:9067432C>T uc009vmo.1 - 9 1129 c.1129G>A c.(1129-1131)Gag>Aag p.E377K NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA. 377 integral to membrane|plasma membrane sugar transmembrane transporter activity NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) TAGGACAGCTCGGGGACCCTG 0.672000 57 9 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119732141 119732141 + Splice_Site SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:119732141G>A uc002tln.1 + 6 745 c.613_splice c.e6+1 p.G205_splice MARCO_uc010yyf.1_Splice_Site_p.G127_splice NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 205 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 GGGAGAGGCGGGTGAGTAGGT 0.567000 19 6 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31809607 31809607 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:31809607C>T uc001ivs.4 + 6 1407 c.1344C>T c.(1342-1344)ccC>ccT p.P448P ZEB1_uc001ivr.4_Silent_p.P230P|ZEB1_uc010qef.2_Silent_p.P230P|ZEB1_uc009xlj.1_Silent_p.P374P|ZEB1_uc010qeg.1_Silent_p.P307P|ZEB1_uc009xlk.1_Silent_p.P230P|ZEB1_uc001ivu.4_Silent_p.P449P|ZEB1_uc010qeh.2_Silent_p.P381P|ZEB1_uc001ivv.4_Silent_p.P428P|ZEB1_uc001ivt.4_Silent_p.P230P|ZEB1_uc009xlo.2_Silent_p.P431P|ZEB1_uc009xlp.3_Silent_p.P432P NM_030751 NP_110378 P37275 ZEB1_HUMAN Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA. 448 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) ATGCTTCACCCATACAACAAG 0.393000 14 11 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47805766 47805766 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr21:47805766C>T uc002zji.4 + 16 3439 c.3332C>T c.(3331-3333)tCc>tTc p.S1111F PCNT_uc002zjj.3_Missense_Mutation_p.S993F NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 1111 G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CAGGTTTTATCCTTAAGTCAC 0.473000 82 47 0 0 1 0 0 SLC43A3 29015 broad.mit.edu 37 11 57177497 57177497 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:57177497G>A uc010rjr.2 - 11 1539 c.1197C>T c.(1195-1197)ccC>ccT p.P399P SLC43A3_uc001nke.3_Intron|SLC43A3_uc021qjf.1_5'Flank|SLC43A3_uc001nkg.3_Silent_p.P386P|SLC43A3_uc001nkh.3_Silent_p.P386P|SLC43A3_uc009yme.3_Silent_p.P386P|SLC43A3_uc001nki.3_Silent_p.P386P NM_199329 NP_955361 Q8NBI5 S43A3_HUMAN Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA. 386 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 GAGGGAGGATGGGGACTGAGG 0.627000 11 9 0 0 1 0 0 RIMKLA 284716 broad.mit.edu 37 1 42865134 42865134 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:42865134C>T uc001chi.2 + 1 361 c.223C>T c.(223-225)Ccc>Tcc p.P75S NM_173642 NP_775913 Q8IXN7 RIMKA_HUMAN Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA. 75 protein modification process cytoplasm ATP binding|acid-amino acid ligase activity|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 TGTACGGGTACCCACACCCTC 0.557000 10 11 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105412631 105412631 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:105412631C>T uc010axc.1 - 6 9277 c.9157G>A c.(9157-9159)Gag>Aag p.E3053K AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.E2953K NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 3053 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) CCAGCTCCCTCGGGAACGTGG 0.607000 122 34 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135622837 135622837 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:135622837C>T uc003yup.3 - 3 696 c.510G>A c.(508-510)tcG>tcA p.S170S ZFAT_uc003yun.3_Silent_p.S158S|ZFAT_uc003yuo.3_Silent_p.S158S|ZFAT_uc010meh.3_Silent_p.S158S|ZFAT_uc010mej.3_Intron|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.S158S|ZFAT_uc003yur.3_Silent_p.S158S NM_020863 NP_001161055 Q9P243 ZFAT_HUMAN Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA. 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GTGGTCTTTTCGAGGCTTTTT 0.438000 84 5 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32560927 32560927 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:32560927C>T uc001wrl.3 + 1 1291 c.1052C>T c.(1051-1053)cCa>cTa p.P351L ARHGAP5_uc001wrm.3_Missense_Mutation_p.P351L|ARHGAP5_uc001wrn.3_Missense_Mutation_p.P351L|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA. 351 Rho protein signal transduction|cell adhesion cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) ACTCTTTTGCCAAATCTAGAA 0.313000 48 18 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197080702 197080702 + Splice_Site SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:197080702C>T uc002utm.1 - 28 4678 c.4495_splice c.e28-1 p.F1499_splice HECW2_uc002utl.1_Splice_Site_p.F1143_splice NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 1499 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CTGTAACAAACTGTCAACCCA 0.507000 20 7 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56086466 56086466 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:56086466G>A uc010rjf.2 + 0 684 c.684G>A c.(682-684)atG>atA p.M228I NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA. 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TTCTCAGGATGAATTCTGCTG 0.413000 25 7 0 0 1 0 0 ASPA 443 broad.mit.edu 37 17 3392538 3392538 + Missense_Mutation SNP T C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:3392538T>C uc010ckg.3 + 4 627 c.536T>C c.(535-537)gTt>gCt p.V179A SPATA22_uc010vrg.2_Intron|ASPA_uc002fvq.3_Missense_Mutation_p.V179A NM_001128085 NP_001121557 P45381 ACY2_HUMAN Homo sapiens aspartoacylase (ASPA), transcript variant 2, mRNA. 179 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) GGTATAGAAGTTGGTCCTCAG 0.303000 55 7 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154394579 154394579 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:154394579C>T uc010jih.1 + 0 1320 c.1160C>T c.(1159-1161)tCc>tTc p.S387F NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 387 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AATCTACAATCCCTGATGGAG 0.468000 36 41 0 0 1 0 0 FAHD2A 51011 broad.mit.edu 37 2 96072701 96072702 + Nonsense_Mutation DNP CC TT TT TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:96072701_96072702CC>TT uc002sur.3 + 2 437_438 c.258_259CC>TT c.(256-261)gcccag>gcTTag p.Q87* NM_016044 NP_057128 Q96GK7 FAH2A_HUMAN Homo sapiens fumarylacetoacetate hydrolase domain containing 2A (FAHD2A), mRNA. 87 hydrolase activity|metal ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 8 CCCTGGCTGCCCAGTTGCCAGT 0.599000 15 7 0 0 1 0 0 KCNG1 3755 broad.mit.edu 37 20 49626495 49626495 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:49626495G>A uc002xwa.4 - 1 676 c.381C>T c.(379-381)atC>atT p.I127I KCNG1_uc002xwb.3_Silent_p.I127I NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA. 127 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GGAAGGTCAGGATAGTGCCGA 0.637000 54 13 0 0 1 0 0 ZNF768 79724 broad.mit.edu 37 16 30535997 30535997 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:30535997G>A uc002dyk.4 - 1 1640 c.1464C>T c.(1462-1464)gcC>gcT p.A488A ZNF768_uc010vex.2_Silent_p.A457A|ZNF768_uc010vew.2_Silent_p.A457A NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN Homo sapiens zinc finger protein 768 (ZNF768), mRNA. 488 A -> S (in dbSNP:rs3751848). regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 TGCCGCACACGGCGCACCTGT 0.657000 25 10 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54806400 54806400 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:54806400C>T uc003pck.3 + 4 2747 c.2631C>T c.(2629-2631)ttC>ttT p.F877F NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 877 p.F877L(2) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AAAGCAAGTTCTTGGAAAGGG 0.428000 35 26 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672824 141672824 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:141672824C>T uc003vwx.1 - 0 750 c.666G>A c.(664-666)agG>agA p.R222R NM_176817 NP_789787 P59533 T2R38_HUMAN Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA. 222 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) TCCTCATGTGCCTTCCCAGGG 0.463000 78 13 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11096946 11096946 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:11096946C>T uc021tcy.1 + 10 1317 c.1087C>T c.(1087-1089)Cgg>Tgg p.R363W CLEC16A_uc002dan.4_Missense_Mutation_p.R361W|CLEC16A_uc002dao.3_Missense_Mutation_p.R361W NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA. 363 breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GCCCAGCATTCGGTGCTTCAT 0.498000 12 18 0 0 1 0 0 FES 2242 broad.mit.edu 37 15 91428653 91428653 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:91428653G>A uc002bpv.3 + 2 344 c.225G>A c.(223-225)gaG>gaA p.E75E FES_uc010uqj.2_Intron|FES_uc010uqk.2_Intron|FES_uc002bpx.3_Silent_p.E75E|FES_uc002bpy.3_Intron|FES_uc010bny.3_Intron NM_002005 NP_001996 P07332 FES_HUMAN Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA. 75 Important for interaction with membranes containing phosphoinositides. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CCTGGGCTGAGATCACCAGCC 0.637000 27 24 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38592961 38592961 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:38592961G>A uc021wvo.1 - 26 4954 c.4902C>T c.(4900-4902)ctC>ctT p.L1634L SCN5A_uc021wvk.1_Silent_p.L1601L|SCN5A_uc021wvl.1_Silent_p.L1580L|SCN5A_uc021wvm.1_Silent_p.L1616L|SCN5A_uc021wvn.1_Silent_p.L1633L|SCN5A_uc021wvp.1_Silent_p.L1634L|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_Silent_p.L1446L|SCN5A_uc021wvi.1_Silent_p.L1500L NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1634 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) GGATCAGTCTGAGGATGCGGC 0.597000 61 29 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41581128 41581128 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:41581128G>A uc003xok.3 - 7 819 c.735C>T c.(733-735)atC>atT p.I245I NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Silent_p.I245I|ANK1_uc003xoj.3_Silent_p.I245I|ANK1_uc003xol.3_Silent_p.I245I|ANK1_uc003xom.3_Silent_p.I278I NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 245 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGCGGGAGGCGATGTGCAGTG 0.632000 49 33 0 0 1 0 0 BMP2 650 broad.mit.edu 37 20 6759176 6759176 + Missense_Mutation SNP C A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:6759176C>A uc002wmu.1 + 2 1416 c.631C>A c.(631-633)Ccc>Acc p.P211T NM_001200 NP_001191 P12643 BMP2_HUMAN Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA. 211 BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter extracellular space BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) TGATGTCACCCCCGCTGTGAT 0.527000 21 18 3.32936e-07 3.37194e-07 1 1 0 APOB 338 broad.mit.edu 37 2 21234589 21234589 + Missense_Mutation SNP C T T rs148451559 by1000genomes TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:21234589C>T uc002red.3 - 25 5279 c.5151G>A c.(5149-5151)atG>atA p.M1717I NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1717 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) CACCCAGAATCATGGCCTGAT 0.443000 123 50 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3228955 3228955 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chrX:3228955G>A uc004crg.4 - 6 7446 c.7289C>T c.(7288-7290)aCg>aTg p.T2430M NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2430 Ig-like C2-type 8. extracellular region p.T2430M(3) 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) AATCCACACCGTCTTCCTATC 0.562000 15 28 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588705 247588705 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:247588705G>A uc001icr.3 + 4 2098 c.1960G>A c.(1960-1962)Gag>Aag p.E654K NLRP3_uc001ics.3_Missense_Mutation_p.E654K|NLRP3_uc001icu.3_Missense_Mutation_p.E654K|NLRP3_uc001icw.3_Missense_Mutation_p.E654K|NLRP3_uc001icv.3_Missense_Mutation_p.E654K|NLRP3_uc010pyw.2_Missense_Mutation_p.E652K|NLRP3_uc001ict.1_Missense_Mutation_p.E652K NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 654 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CCCCAAGATTGAGATCAATCT 0.498000 32 11 0 0 1 0 0 PI3 5266 broad.mit.edu 37 20 43804559 43804559 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:43804559C>T uc002xng.3 + 1 161 c.137C>T c.(136-138)cCc>cTc p.P46L NM_002638 NP_002629 P19957 ELAF_HUMAN Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA. 46 2 X tandem repeats of SVP-1 like motif. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity large_intestine(1)|lung(5)|skin(1) 7 Myeloproliferative disorder(115;0.0122) GGACAAGATCCCGTTAAAGGA 0.453000 78 5 0 0 1 0 0 RCSD1 92241 broad.mit.edu 37 1 167666459 167666459 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:167666459G>A uc001gem.3 + 5 785 c.598G>A c.(598-600)Gaa>Aaa p.E200K RCSD1_uc010pli.2_Missense_Mutation_p.E170K NM_052862 NP_443094 Q6JBY9 CPZIP_HUMAN Homo sapiens RCSD domain containing 1 (RCSD1), mRNA. 200 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) CGGTGCTAAGGAAGAGGATGG 0.587000 51 10 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45293673 45293673 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:45293673C>T uc010olf.2 - 13 1912 c.1900G>A c.(1900-1902)Gag>Aag p.E634K PTCH2_uc021omv.1_Missense_Mutation_p.E634K|PTCH2_uc010olg.2_Missense_Mutation_p.E332K NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA. 634 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CTGAAGAGCTCAGAGCCCAGT 0.632000 Basal Cell Nevus syndrome 67 35 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108652248 108652248 + Missense_Mutation SNP T A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chrX:108652248T>A uc022cch.1 - 7 2026 c.1941A>T c.(1939-1941)aaA>aaT p.K647N GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.K647N NM_001522 NP_001513 P51841 GUC2F_HUMAN Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA. 647 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 AGAGTGATGATTTAAACATCC 0.373000 18 30 0 0 1 0 0 LRP8 7804 broad.mit.edu 37 1 53715120 53715120 + Nonsense_Mutation SNP C A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:53715120C>A uc001cvi.2 - 17 3022 c.2785G>T c.(2785-2787)Gaa>Taa p.E929* LRP8_uc001cvh.2_Intron|LRP8_uc001cvj.2_Intron|LRP8_uc001cvk.2_Nonsense_Mutation_p.E759*|LRP8_uc001cvl.2_Intron NM_004631 NP_004622 Q14114 LRP8_HUMAN Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA. 929 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 GACCTTGgttcccccggcaag 0.592000 39 28 2.49675e-24 2.56145e-24 1 1 0 FAM123A 219287 broad.mit.edu 37 13 25745442 25745442 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr13:25745442G>A uc001uqb.3 - 0 416 c.316C>T c.(316-318)Cac>Tac p.H106Y FAM123A_uc001uqa.3_Missense_Mutation_p.H106Y|FAM123A_uc001uqc.3_Missense_Mutation_p.H106Y NM_152704 NP_689917 Q8N7J2 F123A_HUMAN Homo sapiens family with sequence similarity 123A (FAM123A), transcript variant 1, mRNA. 106 Gly-rich. endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AGTCCGTCGTGGGTCCTGCTC 0.692000 29 8 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163072460 163072460 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:163072460G>A uc002ucd.3 - 9 1022 c.814C>T c.(814-816)Cct>Tct p.P272S FAP_uc010zct.2_Missense_Mutation_p.P247S|FAP_uc010fpe.1_Missense_Mutation_p.P239S NM_004460 NP_004451 Q12884 SEPR_HUMAN Homo sapiens fibroblast activation protein, alpha (FAP), mRNA. 272 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 ACATACGCAGGGTAAGTGGTA 0.423000 33 20 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 98994258 98994258 + Silent SNP C T T rs145057274 byFrequency TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:98994258C>T uc010fij.3 + 1 198 c.57C>T c.(55-57)atC>atT p.I19I CNGA3_uc002syt.3_Silent_p.I70I|CNGA3_uc002syu.3_Silent_p.I70I Q16281 CNGA3_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA. 0 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GCCAGGGGATCGCCAGGTAAC 0.607000 20 5 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94156622 94156622 + Silent SNP C T T rs143380002 byFrequency TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:94156622C>T uc001ybv.1 + 43 6980 c.6897C>T c.(6895-6897)atC>atT p.I2299I UNC79_uc001ybs.1_Silent_p.I2277I NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 2454 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TTATTGTTATCCTGATTGGAT 0.463000 29 27 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3102553 3102553 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:3102553G>A uc002klp.3 - 22 3828 c.3494C>T c.(3493-3495)cCa>cTa p.P1165L MYOM1_uc002klq.3_Missense_Mutation_p.P1069L NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 1165 Ig-like C2-type 3. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CTCGGACTTTGGAGTCATCTT 0.423000 57 34 0 0 1 0 0 C1orf150 148823 broad.mit.edu 37 1 247719744 247719744 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:247719744G>A uc001idf.3 + 1 212 c.65G>A c.(64-66)gGa>gAa p.G22E C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron NM_145278 NP_660321 Q5JQS6 CA150_HUMAN Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA. 22 breast(1)|large_intestine(2)|lung(10)|skin(2) 15 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CCCAAGAAAGGAAACCCAGAT 0.368000 13 8 0 0 1 0 0 TSPAN1 10103 broad.mit.edu 37 1 46650978 46650978 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:46650978G>A uc001cpd.3 + 7 1150 c.676G>A c.(676-678)Gag>Aag p.E226K NM_005727 NP_005718 O60635 TSN1_HUMAN Homo sapiens tetraspanin 1 (TSPAN1), mRNA. 226 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) TGGGGGCCTCGAGGTAAGCAG 0.542000 102 58 0 0 1 0 0 OR51F2 119694 broad.mit.edu 37 11 4842640 4842640 + Nonsense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:4842640C>T uc010qyn.2 + 0 25 c.25C>T c.(25-27)Cag>Tag p.Q9* NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA. 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CCTGTCTTCTCAGTGCTTCCC 0.423000 106 70 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237982396 237982396 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:237982396G>A uc001hyl.1 + 100 14614 c.14494G>A c.(14494-14496)Gaa>Aaa p.E4832K RYR2_uc010pyb.1_Missense_Mutation_p.E265K NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 4832 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.D4831H(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) GGATGAAATCGAAGACCCAGC 0.408000 27 21 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814222 137814222 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:137814222C>T uc002tva.1 + 1 279 c.279C>T c.(277-279)gtC>gtT p.V93V THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GCGGTGAAGTCAAGCCTCGGA 0.537000 29 20 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142641808 142641808 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:142641808C>T uc003wcb.3 - 11 1545 c.1335G>A c.(1333-1335)gcG>gcA p.A445A NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 445 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.A445A(2) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CATCCCGGATCGCAGTGAATA 0.602000 40 4 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45868120 45868120 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:45868120G>A uc002pbj.2 - 6 617 c.570C>T c.(568-570)tgC>tgT p.C190C ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Intron|ERCC2_uc002pbk.2_Silent_p.C166C|ERCC2_uc002pbl.4_Silent_p.C166C|ERCC2_uc010xxj.1_Intron NM_000400 NP_000391 P18074 ERCC2_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA. 190 Helicase ATP-binding. UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction MMXD complex|cytoplasm|holo TFIIH complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) GGAAGTATGGGCACCAGCCCT 0.652000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 16 4 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35993880 35993880 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chrX:35993880G>A uc004ddj.3 + 14 2629 c.2563G>A c.(2563-2565)Gag>Aag p.E855K CXorf22_uc010ngv.3_Non-coding_Transcript NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 855 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 ATCTTCTAATGAGCTAGTATT 0.433000 29 45 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160784336 160784336 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:160784336C>T uc001fwu.3 + 3 907 c.857C>T c.(856-858)aCa>aTa p.T286I LY9_uc010pjs.1_Missense_Mutation_p.T286I|LY9_uc001fwv.3_Missense_Mutation_p.T286I|LY9_uc001fww.3_Missense_Mutation_p.T286I|LY9_uc001fwy.1_Missense_Mutation_p.T188I|LY9_uc001fwz.3_5'UTR NM_002348 NP_002339 Q9HBG7 LY9_HUMAN Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA. 286 Ig-like V-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane p.T286K(2) autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TTGTTTAACACATCCATCATT 0.552000 95 12 0 0 1 0 0 ZNF415 55786 broad.mit.edu 37 19 53612586 53612586 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:53612586G>A uc002qax.3 - 6 1205 c.856C>T c.(856-858)Cat>Tat p.H286Y ZNF415_uc010yds.2_Missense_Mutation_p.H238Y|ZNF415_uc010ydt.2_Missense_Mutation_p.H238Y|ZNF415_uc002qau.3_Missense_Mutation_p.H225Y|ZNF415_uc002qav.3_Missense_Mutation_p.H250Y|ZNF415_uc002qaw.3_Missense_Mutation_p.H238Y|ZNF415_uc002qay.3_Missense_Mutation_p.H225Y|ZNF415_uc002qaz.3_Missense_Mutation_p.H286Y|ZNF415_uc002qba.3_Missense_Mutation_p.H8Y Q09FC8 ZN415_HUMAN Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA. 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) TCTCCAGAATGACTTACCTGA 0.408000 55 10 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47304072 47304072 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:47304072C>T uc001ner.1 + 8 1801 c.1610C>T c.(1609-1611)cCt>cTt p.P537L MADD_uc001neq.2_Missense_Mutation_p.P537L|MADD_uc001nev.1_Missense_Mutation_p.P537L|MADD_uc001nes.1_Missense_Mutation_p.P537L|MADD_uc001net.1_Missense_Mutation_p.P537L|MADD_uc009yln.1_Missense_Mutation_p.P537L|MADD_uc001neu.1_Missense_Mutation_p.P537L|MADD_uc001nez.2_Missense_Mutation_p.P537L|MADD_uc001new.2_Missense_Mutation_p.P537L|MADD_uc001nex.2_Missense_Mutation_p.P537L NM_003682 NP_003673 Q8WXG6 MADD_HUMAN Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA. 537 dDENN. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CGGCAGACTCCTTTTGCCGAG 0.542000 35 4 0 0 1 0 0 C7orf34 135927 broad.mit.edu 37 7 142637553 142637553 + Missense_Mutation SNP T C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:142637553T>C uc003wca.2 + 1 364 c.323T>C c.(322-324)gTt>gCt p.V108A NM_178829 NP_849151 Q96L11 CG034_HUMAN Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA. 83 extracellular region large_intestine(1)|lung(4) 5 Melanoma(164;0.059) ACGGCAGCTGTTCACAAGCAC 0.542000 222 8 0 0 1 0 0 POMT2 29954 broad.mit.edu 37 14 77750178 77750178 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:77750178G>A uc001xti.2 - 14 1816 c.1615C>T c.(1615-1617)Cct>Tct p.P539S POMT2_uc001xth.1_Missense_Mutation_p.P237S NM_013382 NP_037514 Q9UKY4 POMT2_HUMAN Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA. 539 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) AAGATCTCAGGAAAACTGGGC 0.473000 50 30 0 0 1 0 0 C3orf43 255798 broad.mit.edu 37 3 196236500 196236500 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:196236500C>T uc003fws.3 - 1 248 c.91G>A c.(91-93)Gaa>Aaa p.E31K C3orf43_uc003fwr.3_Missense_Mutation_p.E23K NM_001077657 NP_001071125 Q147U7 CC043_HUMAN Homo sapiens chromosome 3 open reading frame 43 (C3orf43), mRNA. 31 integral to membrane NS(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 8 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00298) AAGTCTAGTTCTTTGAACTGT 0.418000 45 35 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159493904 159493904 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:159493904G>A uc003ipz.3 + 1 367 c.104G>A c.(103-105)gGg>gAg p.G35E RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_5'UTR|RXFP1_uc011cja.2_5'UTR|RXFP1_uc010iqo.3_Missense_Mutation_p.G35E|RXFP1_uc011cjb.2_5'UTR|RXFP1_uc011cjc.2_5'UTR|RXFP1_uc011cjd.2_5'UTR|RXFP1_uc010iql.3_5'UTR|RXFP1_uc011cje.2_Missense_Mutation_p.G35E|RXFP1_uc010iqm.3_Missense_Mutation_p.G35E|RXFP1_uc011cjf.2_5'UTR|RXFP1_uc010iqn.3_Intron NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA. 35 LDL-receptor class A. integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TTCCCCTGTGGGAACATCACA 0.527000 55 26 0 0 1 0 0 RNF166 115992 broad.mit.edu 37 16 88766109 88766109 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:88766109G>A uc002flk.3 - 2 440 c.344C>T c.(343-345)tCg>tTg p.S115L RNF166_uc021tmn.1_Missense_Mutation_p.S6L|RNF166_uc021tmo.1_Intron NM_178841 NP_001165287 Q96A37 RN166_HUMAN Homo sapiens ring finger protein 166 (RNF166), transcript variant 1, mRNA. 115 intracellular zinc ion binding endometrium(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0476) CAGGCAGGACGAAATGTGCAC 0.632000 14 5 0 0 1 0 0 DUSP8 1850 broad.mit.edu 37 11 1578648 1578648 + Silent SNP C A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:1578648C>A uc001lts.2 - 6 1106 c.978G>T c.(976-978)ggG>ggT p.G326G MOB2_uc001ltq.2_Intron NM_004420 NP_004411 Q13202 DUS8_HUMAN Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA. 326 Pro-rich.|Tyrosine-protein phosphatase. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) GCAGCGGGGCCCCGGCGGCAG 0.766000 10 8 5.4927e-09 5.58243e-09 1 1 0 ADAMTS6 11174 broad.mit.edu 37 5 64595916 64595916 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:64595916C>T uc003jtp.3 - 9 2080 c.1266G>A c.(1264-1266)acG>acA p.T422T ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Silent_p.T43T NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 422 Peptidase M12B. 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) CATGACCTTTCGTCCCACAAG 0.388000 29 6 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38647384 38647384 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:38647384C>T uc010qex.1 + 1 255 c.180C>T c.(178-180)gtC>gtT p.V60V HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc010qew.1_Silent_p.V60V|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Silent_p.V60V Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA. TCACCATTGTCCAGGTGGATG 0.493000 12 8 0 0 1 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113212514 113212514 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr13:113212514G>A uc001vse.1 - 4 731 c.544C>T c.(544-546)Cca>Tca p.P182S TUBGCP3_uc010tjq.1_Missense_Mutation_p.P172S|TUBGCP3_uc001vsf.3_Missense_Mutation_p.P182S|TUBGCP3_uc001vsg.1_Missense_Mutation_p.P182S NM_006322 NP_006313 Q96CW5 GCP3_HUMAN Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA. 182 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) CCTTACCCTGGGAGGAGAGAT 0.577000 30 14 0 0 1 0 0 PPIA 5478 broad.mit.edu 37 7 44838999 44838999 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:44838999C>T uc003tlw.3 + 2 192 c.109C>T c.(109-111)Cgt>Tgt p.R37C PPIA_uc003tlx.3_Non-coding_Transcript|PPIA_uc010kyl.3_Non-coding_Transcript NM_021130 NP_066953 P62937 PPIA_HUMAN Homo sapiens peptidylprolyl isomerase A (cyclophilin A) (PPIA), mRNA. 37 PPIase cyclophilin-type. RNA-dependent DNA replication|entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|uncoating of virus cytosol|extracellular region|nucleus peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 Cyclosporine(DB00091)|L-Proline(DB00172) AGAAAATTTTCGTGCTCTGAG 0.313000 69 21 0 0 1 0 0 MARK1 4139 broad.mit.edu 37 1 220809193 220809193 + Missense_Mutation SNP C T T rs145170499 TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:220809193C>T uc009xdw.3 + 12 1892 c.1295C>T c.(1294-1296)cCt>cTt p.P432L MARK1_uc001hmn.4_Missense_Mutation_p.P432L|MARK1_uc010pun.2_Missense_Mutation_p.P432L|MARK1_uc001hmm.4_Missense_Mutation_p.P410L NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA. 432 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.P432L(2) 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) TCCATTCCTCCTGCTGTATCA 0.383000 38 22 0 0 1 0 0 POLR3C 10623 broad.mit.edu 37 1 145608180 145608180 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:145608180G>A uc001eog.3 - 3 599 c.556C>T c.(556-558)Cca>Tca p.P186S RNF115_uc001eoj.3_5'Flank|POLR3C_uc001eoh.3_Missense_Mutation_p.P173S|POLR3C_uc009wix.3_Missense_Mutation_p.P173S NM_006468 NP_006459 Q9BUI4 RPC3_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA. 173 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity p.K185N(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) GGTGGTGGTGGCCCAGGGTCT 0.483000 78 29 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151152818 151152818 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:151152818C>T uc011eem.1 + 14 2836 c.2748C>T c.(2746-2748)ctC>ctT p.L916L PLEKHG1_uc011eel.1_Silent_p.L897L|PLEKHG1_uc003qny.1_Silent_p.L857L|PLEKHG1_uc003qnz.2_Silent_p.L857L NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA. 857 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GAGACCGTCTCCTGGCAGCGT 0.522000 43 13 0 0 1 0 0 C14orf39 317761 broad.mit.edu 37 14 60932705 60932705 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:60932705C>T uc001xez.4 - 10 1074 c.964G>A c.(964-966)Gat>Aat p.D322N C14orf39_uc010apo.3_Missense_Mutation_p.D33N NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA. 322 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) ACCTGTGTATCATTTTCTTTT 0.313000 14 5 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95560349 95560349 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:95560349G>A uc001ydw.2 - 24 5452 c.5240C>T c.(5239-5241)tCg>tTg p.S1747L DICER1_uc010avh.1_Missense_Mutation_p.S645L|DICER1_uc021sbc.1_Missense_Mutation_p.S1747L|DICER1_uc001ydv.2_Missense_Mutation_p.S1737L|DICER1_uc001ydx.2_Missense_Mutation_p.S1747L NM_030621 NP_803187 Q9UPY3 DICER_HUMAN Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA. 1747 RNase III 2. 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 p.S1747L(2) 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) TACAGCCAGCGATGCAAAGAT 0.507000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 37 28 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999774 45999774 + Missense_Mutation SNP T C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr21:45999774T>C uc002zfl.1 - 0 708 c.682A>G c.(682-684)Ata>Gta p.I228V TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198694 NP_941967 P60370 KR105_HUMAN Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA. 228 22 X 5 AA repeats of C-C-X(3). keratin filament p.I228V(2) endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 GGCCTGCATATGGGGCGGCAG 0.682000 149 4 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508761 37508761 + Missense_Mutation SNP T C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:37508761T>C uc021ppc.1 + 33 4052 c.3953T>C c.(3952-3954)tTt>tCt p.F1318S ANKRD30A_uc001iza.1_Missense_Mutation_p.F1318S NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 1374 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GAGGAGATATTTAATTACAAT 0.269000 5 6 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21689921 21689921 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:21689921C>T uc001rfb.3 - 15 2334 c.2079G>A c.(2077-2079)ggG>ggA p.G693G NM_021957 NP_068776 P54840 GYS2_HUMAN Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA. 693 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GCTTTTTCTTCCCATGAGGAA 0.368000 34 21 0 0 1 0 0 CHRNA2 1135 broad.mit.edu 37 8 27321460 27321460 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:27321460G>A uc010lur.3 - 5 1109 c.500C>T c.(499-501)tCc>tTc p.S167F CHRNA2_uc011lal.2_Missense_Mutation_p.S152F|CHRNA2_uc010lus.3_Intron NM_000742 NP_000733 Q15822 ACHA2_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA. 167 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) AGTGCCCGTGGAGAAGAGGTG 0.602000 49 22 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183651370 183651370 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:183651370G>A uc003ivd.1 + 13 2678 c.2603G>A c.(2602-2604)aGa>aAa p.R868K ODZ3_uc003ive.1_Missense_Mutation_p.R274K NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 868 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TCTGTCATCAGAGGCCAAGTA 0.403000 43 21 0 0 1 0 0 LEP 3952 broad.mit.edu 37 7 127894505 127894505 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:127894505G>A uc003vml.2 + 2 250 c.193G>A c.(193-195)Ggg>Agg p.G65R LEP_uc003vmm.2_Missense_Mutation_p.G64R NM_000230 NP_000221 P41159 LEP_HUMAN Homo sapiens leptin (LEP), mRNA. 65 adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth extracellular space endometrium(1)|large_intestine(2)|lung(5) 8 CTTCATTCCTGGGCTCCACCC 0.512000 179 47 0 0 1 0 0 PEX2 5828 broad.mit.edu 37 8 77895944 77895944 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:77895944G>A uc022awg.1 - 0 471 c.471C>T c.(469-471)ttC>ttT p.F157F PEX2_uc003yax.3_Silent_p.F157F|PEX2_uc003yay.3_Silent_p.F157F|PEX2_uc022awe.1_Silent_p.F157F|PEX2_uc022awf.1_Silent_p.F157F NM_001172087 NP_001165558 P28328 PEX2_HUMAN Homo sapiens peroxisomal biogenesis factor 2 (PEX2), transcript variant 4, mRNA. 157 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 14 CCCTCTGAAGGAAAATCAAAA 0.363000 44 19 0 0 1 0 0 SLC37A4 2542 broad.mit.edu 37 11 118898961 118898961 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:118898961G>A uc010ryr.1 - 3 765 c.324C>T c.(322-324)ttC>ttT p.F108F SLC37A4_uc009zan.2_Non-coding_Transcript|SLC37A4_uc010rys.1_Silent_p.F108F|SLC37A4_uc010ryt.1_Silent_p.F35F|SLC37A4_uc001pus.2_Silent_p.F108F NM_001164278 NP_001157750 O43826 G6PT1_HUMAN Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4), transcript variant 2, mRNA. 108 glucose homeostasis|glucose metabolic process endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane glucose-6-phosphate transmembrane transporter activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1) 6 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) GGCCATTAAGGAACCAGAGGG 0.577000 8 4 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168102298 168102298 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:168102298G>A uc002udx.3 + 8 4485 c.4396G>A c.(4396-4398)Gga>Aga p.G1466R XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G1291R|XIRP2_uc010fpq.3_Missense_Mutation_p.G1244R|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1291 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 TGAACTGAGAGGAGAAGGGTT 0.368000 51 19 0 0 1 0 0 EGFL6 25975 broad.mit.edu 37 X 13645355 13645355 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chrX:13645355G>A uc004cvj.3 + 10 1801 c.1514G>A c.(1513-1515)gGg>gAg p.G505E EGFL6_uc004cvi.3_Missense_Mutation_p.G504E NM_001167890 NP_001161362 Q8IUX8 EGFL6_HUMAN Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA. 504 MAM. cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 TGGAAGACAGGGAAAATTCAG 0.398000 19 42 0 0 1 0 0 RBP1 5947 broad.mit.edu 37 3 139237343 139237343 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:139237343C>T uc003eti.2 - 2 571 c.460G>A c.(460-462)Gac>Aac p.D154N NM_002899 NP_002890 P09455 RET1_HUMAN Homo sapiens retinol binding protein 1, cellular (RBP1), transcript variant 1, mRNA. 92 cytoplasm retinal binding|retinol binding|transporter activity endometrium(1)|large_intestine(2)|lung(1)|prostate(1) 5 Vitamin A(DB00162) TGGAGCTTGTCTCCGTCCCAG 0.607000 20 21 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7606535 7606535 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:7606535C>T uc010xjq.2 + 10 1400 c.1160C>T c.(1159-1161)cCc>cTc p.P387L PNPLA6_uc002mgq.2_Missense_Mutation_p.P339L|PNPLA6_uc010xjp.2_Missense_Mutation_p.P339L|PNPLA6_uc002mgr.2_Missense_Mutation_p.P339L|PNPLA6_uc002mgs.3_Missense_Mutation_p.P378L NM_001166111 NP_001159583 Q8IY17 PLPL6_HUMAN Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA. 378 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 GGGCGGCCACCCGATCCCACC 0.711000 11 6 0 0 1 0 0 LRRC6 23639 broad.mit.edu 37 8 133595982 133595982 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:133595982C>T uc003ytk.3 - 10 1259 c.1185G>A c.(1183-1185)atG>atA p.M395I LRRC6_uc022bbp.1_Missense_Mutation_p.M395I|LRRC6_uc003ytl.3_Non-coding_Transcript NM_012472 NP_036604 Q86X45 LRRC6_HUMAN Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA. 395 CS. cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) AGGTAGTTTTCATAGATTTGA 0.398000 41 20 0 0 1 0 0 RFX3 5991 broad.mit.edu 37 9 3330465 3330465 + Nonsense_Mutation SNP C A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:3330465C>A uc003zhr.3 - 4 580 c.268G>T c.(268-270)Gga>Tga p.G90* RFX3_uc010mhd.3_Nonsense_Mutation_p.G90*|RFX3_uc003zhs.1_Nonsense_Mutation_p.G90*|RFX3_uc003zht.1_Nonsense_Mutation_p.G90*|RFX3_uc010mhe.1_Nonsense_Mutation_p.G90* NM_134428 NP_602304 P48380 RFX3_HUMAN Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA. 90 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) TAATTCCCTCCAGTATTTTGG 0.448000 32 23 5.35356e-11 5.46013e-11 1 1 0 RASSF10 644943 broad.mit.edu 37 11 13032484 13032484 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:13032484C>T uc021qdz.1 + 0 1515 c.1361C>T c.(1360-1362)cCc>cTc p.P454L NM_001080521 NP_001073990 A6NK89 RASFA_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 10 (RASSF10), mRNA. 454 signal transduction Epithelial(150;0.00399) TCTGGCAGTCCCTCGCGGGAA 0.637000 34 7 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187627388 187627388 + Missense_Mutation SNP G T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:187627388G>T uc002ups.3 + 7 2431 c.2319G>T c.(2317-2319)gaG>gaT p.E773D FAM171B_uc002upr.1_Missense_Mutation_p.E740D|FAM171B_uc002upt.3_Missense_Mutation_p.E242D NM_177454 NP_803237 Q6P995 F171B_HUMAN Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA. 773 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TGATCATGGAGCACCCTGGAG 0.502000 27 17 1.45105e-14 1.48515e-14 1 1 0 LOC644936 644936 broad.mit.edu 37 5 79595799 79595799 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:79595799C>T uc010jai.3 - 0 499 c.358G>A c.(358-360)Gaa>Aaa p.E120K Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA. AAGGTAGTTTCGTGGATGCCA 0.522000 133 8 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41600950 41600950 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:41600950C>T uc002opt.3 + 7 1257 c.1248C>T c.(1246-1248)ttC>ttT p.F416F NM_000766 NP_000757 Q16696 CP2AD_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA. 416 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) CCCAGCACTTCCTGGATAAGA 0.567000 132 21 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153026682 153026682 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:153026682C>T uc011dcy.2 + 2 472 c.445C>T c.(445-447)Cat>Tat p.H149Y GRIA1_uc003lva.4_Missense_Mutation_p.H139Y|GRIA1_uc003luy.4_Missense_Mutation_p.H139Y|GRIA1_uc003luz.4_Missense_Mutation_p.H44Y|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Missense_Mutation_p.H70Y|GRIA1_uc011dcz.2_Missense_Mutation_p.H149Y|GRIA1_uc010jia.1_Missense_Mutation_p.H119Y NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 139 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) CATCATTGACCATTACAAGTG 0.493000 27 31 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98380287 98380287 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:98380287C>T uc001kmq.3 - 11 1891 c.1763G>A c.(1762-1764)aGg>aAg p.R588K PIK3AP1_uc001kmo.3_Missense_Mutation_p.R187K|PIK3AP1_uc001kmp.3_Missense_Mutation_p.R410K NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA. 588 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) CGACTGGGGCCTGTCCCTCCA 0.572000 32 9 0 0 1 0 0 PGBD2 267002 broad.mit.edu 37 1 249211534 249211534 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:249211534C>T uc001ifh.3 + 2 898 c.751C>T c.(751-753)Cgg>Tgg p.R251W PGBD2_uc001ifg.3_5'UTR|PGBD2_uc009xhd.3_Missense_Mutation_p.R248W|PGBD2_uc021pmh.1_5'Flank NM_170725 NP_001017434 Q6P3X8 PGBD2_HUMAN Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA. 251 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCTCATCATCCGGATGAACTG 0.458000 91 16 0 0 1 0 0 CTSS 1520 broad.mit.edu 37 1 150722617 150722617 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:150722617G>A uc001evn.3 - 5 919 c.658C>T c.(658-660)Cgt>Tgt p.R220C CTSS_uc010pcj.2_Missense_Mutation_p.R170C NM_004079 NP_004070 P25774 CATS_HUMAN Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA. 220 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) GTGGCAGCACGATATTTTGAG 0.393000 14 14 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 21965074 21965074 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:21965074C>T uc001rfh.3 - 33 4140 c.4120G>A c.(4120-4122)Ggg>Agg p.G1374R ABCC9_uc001rfi.1_Missense_Mutation_p.G1374R NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 1374 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ATGTCTATCCCATCAATGACA 0.328000 44 18 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29885559 29885559 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:29885559G>A uc003afo.3 + 3 2001 c.1930G>A c.(1930-1932)Gag>Aag p.E644K KIAA0845_uc003afp.3_Intron NM_021076 NP_066554 P12036 NFH_HUMAN Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA. 644 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 TCCAACGAAGGAGGAAGCAAA 0.562000 24 18 0 0 1 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65208864 65208864 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:65208864C>T uc001xhp.2 + 15 3031 c.2992C>T c.(2992-2994)Ccg>Tcg p.P998S PLEKHG3_uc001xhn.1_Missense_Mutation_p.P821S|PLEKHG3_uc001xho.1_Missense_Mutation_p.P877S|PLEKHG3_uc010aqh.1_Missense_Mutation_p.P419S|PLEKHG3_uc001xhq.1_Missense_Mutation_p.P382S NM_015549 NP_056364 A1L390 PKHG3_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA. 877 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) GGGGCGCAGCCCGGCCCACCT 0.667000 28 12 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138452913 138452913 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:138452913C>T uc003ihe.4 - 0 717 c.330G>A c.(328-330)gtG>gtA p.V110V PCDH18_uc003ihf.4_Silent_p.V103V|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 110 Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D109Y(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) GTAGAGTGATCACATCAAACT 0.408000 81 50 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5462708 5462708 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:5462708C>T uc002gci.3 - 3 1863 c.1308G>A c.(1306-1308)gcG>gcA p.A436A NLRP1_uc002gcg.1_Silent_p.A436A|NLRP1_uc002gch.4_Silent_p.A436A|NLRP1_uc002gck.3_Silent_p.A436A|NLRP1_uc002gcj.3_Silent_p.A436A|NLRP1_uc002gcl.3_Silent_p.A436A|NLRP1_uc010clh.3_Silent_p.A436A NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 436 NACHT. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding p.A436A(2) 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) GCAGTGCATCCGCCGGCTGTG 0.577000 11 6 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2160643 2160643 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:2160643C>T uc002cos.1 - 14 4734 c.4525G>A c.(4525-4527)Gag>Aag p.E1509K TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.E1509K NM_001009944 NP_001009944 P98161 PKD1_HUMAN Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA. 1509 PKD 10. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCCGGACCCTCGAGCCACCCA 0.662000 61 15 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175046766 175046766 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:175046766C>T uc001gkl.1 + 1 325 c.212C>T c.(211-213)tCg>tTg p.S71L TNN_uc010pmx.1_Missense_Mutation_p.S71L NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 71 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GATGGGGCTTCGCTCTTGGCC 0.587000 38 17 0 0 1 0 0 OR10A2 341276 broad.mit.edu 37 11 6891697 6891697 + Missense_Mutation SNP T A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:6891697T>A uc001meu.1 + 0 712 c.712T>A c.(712-714)Ttc>Atc p.F238I NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA. 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TGTCTCTCTTTTCTATATATC 0.423000 109 27 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70924369 70924369 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:70924369G>A uc021rvq.1 + 0 153 c.153G>A c.(151-153)agG>agA p.R51R ADAM21_uc001xmd.3_Silent_p.R51R NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA. 51 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TGATCAGCAGGGGCAGAAGTG 0.527000 107 24 0 0 1 0 0 VPRBP 9730 broad.mit.edu 37 3 51475452 51475452 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:51475452G>A uc003dbe.2 - 7 1160 c.975C>T c.(973-975)atC>atT p.I325I VPRBP_uc021wys.1_Silent_p.I324I|VPRBP_uc003dbg.2_Silent_p.I325I NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA. 325 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) GTCGCTGCTCGATAGCAGGAG 0.433000 10 8 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A T T rs113059833 by1000genomes TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:39261693A>T uc010wfp.2 + 0 53 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041 NP_001139513 Q9BYQ8 KRA49_HUMAN Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA. 18 keratin filament p.D18V(2) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 31 4 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234846064 234846064 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:234846064G>A uc002vvh.3 + 3 299 c.259G>A c.(259-261)Gag>Aag p.E87K TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Missense_Mutation_p.E37K|TRPM8_uc002vvj.3_Missense_Mutation_p.E10K NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA. 87 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CAACCAAAGTGAGAAATGGAA 0.493000 64 19 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124377610 124377610 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:124377610G>A uc001lgk.1 + 37 4688 c.4582G>A c.(4582-4584)Ggc>Agc p.G1528S DMBT1_uc001lgl.1_Missense_Mutation_p.G1518S|DMBT1_uc001lgm.1_Missense_Mutation_p.G900S|DMBT1_uc021qaf.1_Missense_Mutation_p.G1528S|DMBT1_uc021qag.1_Missense_Mutation_p.G1518S|DMBT1_uc021qah.1_Missense_Mutation_p.G900S|DMBT1_uc009xzz.1_Missense_Mutation_p.G1528S|DMBT1_uc010qtx.1_Missense_Mutation_p.G379S|DMBT1_uc009yab.1_Missense_Mutation_p.G231S|DMBT1_uc009yac.1_5'Flank NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1528 SRCR 12. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding p.Q1527H(1) breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCTATACCAAGGCTCCTGGGG 0.582000 313 53 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157514189 157514189 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:157514189C>T uc009wsm.3 - 4 865 c.707G>A c.(706-708)gGa>gAa p.G236E FCRL5_uc001fqu.3_Missense_Mutation_p.G236E|FCRL5_uc010phv.1_Missense_Mutation_p.G236E|FCRL5_uc010phw.1_Missense_Mutation_p.G151E|FCRL5_uc001fqv.1_Missense_Mutation_p.G236E|FCRL5_uc010phx.2_5'UTR NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 236 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CCAGCCTAATCCCAGGGTCTG 0.542000 131 71 0 0 1 0 0 GFRA2 2675 broad.mit.edu 37 8 21608287 21608287 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:21608287C>T uc003wzu.1 - 3 1282 c.607G>A c.(607-609)Gcc>Acc p.A203T GFRA2_uc003wzv.1_Missense_Mutation_p.A98T|GFRA2_uc003wzw.1_Missense_Mutation_p.A70T|DOK2_uc003wzx.1_Intron NM_001495 NP_001486 O00451 GFRA2_HUMAN Homo sapiens GDNF family receptor alpha 2 (GFRA2), transcript variant 1, mRNA. 203 anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1) 7 Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) TGGCGCAGGGCCTTGTGGCAC 0.637000 78 12 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100682549 100682549 + Missense_Mutation SNP G T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:100682549G>T uc003uxp.1 + 2 7905 c.7852G>T c.(7852-7854)Gca>Tca p.A2618S MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2618 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCCTACAACTGCAAAAGATAC 0.468000 333 109 1.44639e-49 1.48562e-49 1 1 0 FILIP1 27145 broad.mit.edu 37 6 76022285 76022285 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:76022285G>A uc010kbe.3 - 5 3802 c.3272C>T c.(3271-3273)cCa>cTa p.P1091L FILIP1_uc003phy.1_Missense_Mutation_p.P1088L|FILIP1_uc003phz.3_Missense_Mutation_p.P989L|FILIP1_uc003pia.3_Missense_Mutation_p.P1088L|FILIP1_uc003pib.1_Missense_Mutation_p.P840L NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 1088 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 AGTAATAACTGGACTGACTCC 0.498000 62 42 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80101302 80101302 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:80101302G>A uc010ysh.2 + 4 691 c.686G>A c.(685-687)cGc>cAc p.R229H CTNNA2_uc010yse.2_Missense_Mutation_p.R229H|CTNNA2_uc010ysf.2_Missense_Mutation_p.R229H|CTNNA2_uc010ysg.2_Missense_Mutation_p.R229H NM_004389 NP_004380 P26232 CTNA2_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA. 229 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.R229H(3) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GCATTTCTCCGCCACCCAGAT 0.572000 43 6 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112524267 112524267 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:112524267G>A uc001ebu.1 - 1 1562 c.1082C>T c.(1081-1083)aCc>aTc p.T361I KCND3_uc001ebv.1_Missense_Mutation_p.T361I NM_004980 NP_004971 Q9UK17 KCND3_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA. 361 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding p.Y360H(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GGTGACAATGGTGTACCAAAA 0.542000 35 21 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36341986 36341986 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:36341986G>A uc002oby.3 - 3 559 c.403C>T c.(403-405)Ccc>Tcc p.P135S NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 135 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) AGCAGCTTGGGAGGAACTGGT 0.602000 38 13 0 0 1 0 0 FAM96B 51647 broad.mit.edu 37 16 66968234 66968234 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:66968234G>A uc021tjy.1 - 0 87 c.34C>T c.(34-36)Ctg>Ttg p.L12L CES2_uc002eqr.3_5'Flank|CES2_uc002eqq.3_5'Flank|CES2_uc002eqs.3_5'Flank NM_016062 NP_057146 Q9Y3D0 MIP18_HUMAN Homo sapiens family with sequence similarity 96, member B (FAM96B), transcript variant 1, mRNA. 12 chromosome segregation MMXD complex|cytoplasm|nucleus protein binding kidney(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) GCATTCTCCAGGAGGCCGCCG 0.692000 6 8 0 0 1 0 0 C5orf44 80006 broad.mit.edu 37 5 64946640 64946640 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:64946640G>A uc003jua.4 + 5 762 c.432G>A c.(430-432)ttG>ttA p.L144L C5orf44_uc003jtz.4_Silent_p.L144L|C5orf44_uc010iwv.3_Silent_p.L144L|C5orf44_uc003juc.4_Silent_p.L144L NM_001093755 NP_001087224 A5PLN9 CE044_HUMAN Homo sapiens chromosome 5 open reading frame 44 (C5orf44), transcript variant 1, mRNA. 144 kidney(4)|large_intestine(2)|lung(1)|ovary(1) 8 GTTTCAGCTTGGTATGTGCTG 0.294000 15 8 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 22078774 22078774 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:22078774C>T uc010iuc.2 - 1 470 c.12G>A c.(10-12)agG>agA p.R4R CDH12_uc011cno.1_Silent_p.R4R|CDH12_uc003jgk.2_Silent_p.R4R NM_004061 NP_004052 P55289 CAD12_HUMAN Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA. 4 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 ATAAACAGTTCCTTGTAAGCA 0.463000 HNSCC(59;0.17) 84 10 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40877407 40877407 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:40877407G>A uc002xkg.3 - 13 2416 c.2232C>T c.(2230-2232)acC>acT p.T744T PTPRT_uc010ggj.3_Silent_p.T763T NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 744 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) CCATCTTCACGGTGTTGTCCA 0.532000 28 19 0 0 1 0 0 C4B 721 broad.mit.edu 37 6 31997559 31997559 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:31997559G>A uc011dpd.2 + 28 3944 c.3893G>A c.(3892-3894)gGa>gAa p.G1298E C4B_uc011dpe.2_Missense_Mutation_p.G1298E NM_001242823 NP_001229752 P0C0L5 CO4B_HUMAN Homo sapiens complement C4-B-like (LOC100293534), mRNA. 1298 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity TTCCAAGGGGGATTCCGCAGT 0.652000 99 21 0 0 1 0 0 RANGAP1 5905 broad.mit.edu 37 22 41657540 41657540 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:41657540G>A uc003azs.3 - 4 1995 c.525C>T c.(523-525)gcC>gcT p.A175A RANGAP1_uc003azt.3_Silent_p.A175A|RANGAP1_uc003azu.3_Silent_p.A175A|RANGAP1_uc011aoz.2_Intron NM_002883 NP_002874 P46060 RAGP1_HUMAN Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA. 175 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole Ran GTPase activator activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCTTGCCTTGGGCACTGGATT 0.602000 161 7 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80409515 80409515 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:80409515C>T uc003kha.2 + 14 2296 c.2246C>T c.(2245-2247)tCt>tTt p.S749F RASGRF2_uc011ctn.2_Non-coding_Transcript NM_006909 NP_008840 O14827 RGRF2_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA. 749 N-terminal Ras-GEF.|Regulates proteasomal degradation (By similarity). apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane Rho guanyl-nucleotide exchange factor activity|protein binding biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TCTTTGACTTCTCCCTTGAAC 0.562000 49 130 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176762788 176762788 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:176762788G>A uc001gkz.3 + 19 6277 c.5113G>A c.(5113-5115)Gaa>Aaa p.E1705K PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1705 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCACTGGATGGAACCTGTCAA 0.478000 40 11 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48318664 48318664 + Missense_Mutation SNP A T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:48318664A>T uc003toq.2 + 17 7897 c.7873A>T c.(7873-7875)Atg>Ttg p.M2625L ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 2625 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 ACTCTCATATATGAACCAATC 0.358000 30 9 0 0 1 0 0 OR8B8 26493 broad.mit.edu 37 11 124310597 124310597 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:124310597G>A uc010sal.2 - 0 385 c.385C>T c.(385-387)Cca>Tca p.P129S NM_012378 NP_036510 Q15620 OR8B8_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA. 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TACAACAGTGGGTTACAGATG 0.507000 23 13 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18668982 18668982 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:18668982C>T uc003sui.3 + 5 715 c.674C>T c.(673-675)cCc>cTc p.P225L HDAC9_uc003sue.3_Missense_Mutation_p.P222L|HDAC9_uc011jyd.2_Missense_Mutation_p.P222L|HDAC9_uc003suh.3_Missense_Mutation_p.P222L|HDAC9_uc003suj.3_Intron|HDAC9_uc011jya.2_Intron|HDAC9_uc003sua.1_Intron|HDAC9_uc003sud.2_Missense_Mutation_p.P222L|HDAC9_uc011jyc.2_Intron|HDAC9_uc011jyb.2_Intron|HDAC9_uc003suf.2_Missense_Mutation_p.P253L|HDAC9_uc010kud.2_Missense_Mutation_p.P225L|HDAC9_uc011jye.2_Missense_Mutation_p.P194L|HDAC9_uc011jyf.2_Intron|HDAC9_uc010kue.1_5'UTR NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA. 222 Interaction with ETV6.|Interaction with MAPK10 (By similarity). B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GCCTCTGAGCCCAACTTGAAG 0.398000 8 5 0 0 1 0 0 GCKR 2646 broad.mit.edu 37 2 27726415 27726415 + Nonsense_Mutation SNP C T T rs149847328 TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:27726415C>T uc002rky.3 + 8 745 c.679C>T c.(679-681)Cga>Tga p.R227* GCKR_uc010ezd.3_Nonsense_Mutation_p.R227*|GCKR_uc010ylu.2_Nonsense_Mutation_p.R37* NM_001486 NP_001477 Q14397 GCKR_HUMAN Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA. 227 SIS 1. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) TTCAACATTCCGACAAGTAGC 0.493000 43 9 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 617686 617686 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:617686C>T uc001lql.3 - 14 2470 c.2203G>A c.(2203-2205)Gac>Aac p.D735N IRF7_uc009ycb.3_5'Flank|IRF7_uc010qwf.2_5'Flank|IRF7_uc001lqf.3_5'Flank|IRF7_uc010qwg.2_5'Flank|IRF7_uc001lqg.3_5'Flank|IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Missense_Mutation_p.D735N|CDHR5_uc009ycd.3_Missense_Mutation_p.D729N|CDHR5_uc001lqk.3_Missense_Mutation_p.D541N|CDHR5_uc009ycc.3_Missense_Mutation_p.D569N NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA. 735 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 GGCTTGGGGTCGTGCGTGGGG 0.756000 2 4 0 0 1 0 0 CCDC169-SOHLH2 100526761 broad.mit.edu 37 13 36764178 36764178 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr13:36764178C>T uc010tei.2 - 10 1092 c.777G>A c.(775-777)agG>agA p.R259R CCDC169-SOHLH2_uc001uvj.3_Silent_p.R182R NM_001198910 NP_001185839 B4DX90 B4DX90_HUMAN Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA. 259 regulation of transcription, DNA-dependent nucleus CATTGCCATTCCTTAAAGATT 0.348000 23 16 0 0 1 0 0 SLC6A19 340024 broad.mit.edu 37 5 1217003 1217003 + Silent SNP C T T rs149388719 TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:1217003C>T uc003jbw.4 + 7 1172 c.1116C>T c.(1114-1116)ccC>ccT p.P372P NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA. 372 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.P372P(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CCTCCGACCCCGCGGCCTACG 0.622000 179 43 0 0 1 0 0 MIA2 117153 broad.mit.edu 37 14 39716400 39716400 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:39716400C>T uc001wux.3 + 3 816 c.622C>T c.(622-624)Cgt>Tgt p.R208C MIA2_uc010amy.2_Missense_Mutation_p.R139C NM_054024 NP_473365 Q96PC5 MIA2_HUMAN Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA. 208 extracellular region p.R208C(4) NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 31 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) GGAACAGGATCGTATTCCAGA 0.443000 39 16 0 0 1 0 0 RBM44 375316 broad.mit.edu 37 2 238727187 238727187 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:238727187G>A uc002vxi.4 + 2 1760 c.1628G>A c.(1627-1629)gGa>gAa p.G543E NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN Homo sapiens RNA binding motif protein 44 (RBM44), mRNA. 542 RNA binding|nucleotide binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) AAAGGATCAGGAAAATCTCTC 0.308000 9 5 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33469570 33469571 + Missense_Mutation DNP GG AA AA TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:33469570_33469571GG>AA uc003zsz.3 - 4 754_755 c.653_654CC>TT c.(652-654)ccc>cTT p.P218L NOL6_uc003zta.3_Missense_Mutation_p.P218L|NOL6_uc010mjv.3_Missense_Mutation_p.P218L|NOL6_uc011lob.2_Missense_Mutation_p.P158L|NOL6_uc003ztb.1_Missense_Mutation_p.P218L NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA. 218 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) TGCCAAAGAGGGGGTCCTGGGC 0.609000 80 18 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33526684 33526684 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:33526684G>A uc021vft.1 + 21 3477 c.3454G>A c.(3454-3456)Gca>Aca p.A1152T LTBP1_uc002rou.3_Missense_Mutation_p.A826T|LTBP1_uc002rov.3_Missense_Mutation_p.A773T|LTBP1_uc010ymz.2_Missense_Mutation_p.A826T|LTBP1_uc010yna.2_Missense_Mutation_p.A773T|LTBP1_uc010ynb.2_Missense_Mutation_p.A92T NM_206943 NP_996826 Q14766 LTBP1_HUMAN Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA. 1152 EGF-like 10; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGGTTACAGAGCATCTGGGCT 0.488000 29 14 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179562619 179562619 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:179562619G>A uc010pnp.2 + 2 775 c.257G>A c.(256-258)gGa>gAa p.G86E TDRD5_uc021pfm.1_Missense_Mutation_p.G86E|TDRD5_uc001gnf.2_Missense_Mutation_p.G86E|TDRD5_uc021pfn.1_Missense_Mutation_p.G86E NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 86 Lotus/OST-HTH 1. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TCTACCAAAGGAATAGCAAGC 0.388000 35 6 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909235 123909235 + Missense_Mutation SNP C G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:123909235C>G uc001pzq.1 - 0 474 c.474G>C c.(472-474)caG>caC p.Q158H NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA. 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TCAATATGGTCTGGACAGCAG 0.572000 209 5 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108381921 108381921 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:108381921G>A uc001pkk.3 - 5 4424 c.4313C>T c.(4312-4314)tCc>tTc p.S1438F EXPH5_uc010rvz.2_Missense_Mutation_p.S1282F|EXPH5_uc010rvy.2_Missense_Mutation_p.S1250F NM_015065 NP_055880 Q149M6 Q149M6_HUMAN Homo sapiens exophilin 5 (EXPH5), mRNA. 1438 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TCTAGTTTGGGAATTTCCAAT 0.413000 34 6 0 0 1 0 0 ME1 4199 broad.mit.edu 37 6 84055943 84055943 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:84055943C>T uc003pjy.3 - 4 814 c.549G>A c.(547-549)atG>atA p.M183I ME1_uc011dzb.2_Missense_Mutation_p.M108I|ME1_uc011dzc.2_Missense_Mutation_p.M17I NM_002395 NP_002386 P48163 MAOX_HUMAN Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA. 183 NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) CTTGAGGATTCATCCCTCCGC 0.443000 59 8 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34094912 34094912 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:34094912C>T uc011kap.2 + 9 1298 c.924C>T c.(922-924)ttC>ttT p.F308F NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN Homo sapiens BMP binding endothelial regulator (BMPER), mRNA. 308 VWFC 5. 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 ACAAGATTTTCCAGGTATGTC 0.468000 59 10 0 0 1 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19409879 19409879 + RNA SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr13:19409879C>T uc010tcj.1 - 0 c.36231G>A Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. TGACTTTTTTCTGAGAGTATC 0.338000 39 10 0 0 1 0 0 CNGA4 1262 broad.mit.edu 37 11 6265625 6265625 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:6265625C>T uc001mco.3 + 5 1829 c.1714C>T c.(1714-1716)Cca>Tca p.P572S CNGA4_uc010raa.2_3'UTR|CNGA4_uc001mcn.3_3'UTR NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA. 572 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAGGGACCCCCAGGTCCAGA 0.587000 9 4 0 0 1 0 0 OR5M1 390168 broad.mit.edu 37 11 56380724 56380724 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:56380724G>A uc001nja.1 - 0 255 c.255C>T c.(253-255)ttC>ttT p.F85F OR8U8_uc001nit.2_Intron NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA. 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F85F(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 GTTCTGAGAGGAAATTGTGCA 0.448000 59 12 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36489156 36489156 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:36489156C>T uc002hpz.3 - 9 2036 c.2015G>A c.(2014-2016)aGc>aAc p.S672N NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA. 672 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) AGGGTCCAGGCTGTGCTCACT 0.612000 38 3 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117431584 117431584 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:117431584G>A uc003vjf.3 - 3 1758 c.1666C>T c.(1666-1668)Cct>Tct p.P556S NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA. 556 Pro-rich. breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GGTGGAGAAGGAGTTTGGGAG 0.507000 152 5 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10392117 10392117 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:10392117C>T uc003bvt.3 - 14 2720 c.2281G>A c.(2281-2283)Gag>Aag p.E761K ATP2B2_uc003bvv.3_Missense_Mutation_p.E716K|ATP2B2_uc003bvw.3_Missense_Mutation_p.E716K|ATP2B2_uc010hdo.3_Missense_Mutation_p.E466K NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA. 761 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CTGTTGAACTCCTTGCCCTCG 0.597000 57 5 0 0 1 0 0 SERPINB7 8710 broad.mit.edu 37 18 61449759 61449759 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:61449759C>T uc002ljl.3 + 1 249 c.153C>T c.(151-153)ctC>ctT p.L51L SERPINB7_uc002ljm.3_Silent_p.L51L|SERPINB7_uc010xet.2_Silent_p.L51L|SERPINB7_uc010dqg.3_Silent_p.L51L NM_001040147 NP_003775 O75635 SPB7_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA. 51 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) ATGACTCCCTCTCTCAGATTG 0.473000 49 12 0 0 1 0 0 CYP7A1 1581 broad.mit.edu 37 8 59404997 59404997 + Missense_Mutation SNP C G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:59404997C>G uc003xtm.4 - 4 1193 c.1130G>C c.(1129-1131)gGt>gCt p.G377A NM_000780 NP_000771 P22680 CP7A1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA. 377 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) GTTGTAGGAACCGTCCTCAAG 0.453000 Neonatal Giant Cell Hepatitis 49 25 0 0 1 0 0 IPO5 3843 broad.mit.edu 37 13 98628987 98628987 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr13:98628987C>T uc001vne.3 + 3 271 c.91C>T c.(91-93)Ctg>Ttg p.L31L IPO5_uc001vnf.1_Silent_p.L13L|IPO5_uc010tik.1_Silent_p.L13L|IPO5_uc010til.1_5'Flank NM_002271 NP_002262 O00410 IPO5_HUMAN Homo sapiens importin 5 (IPO5), mRNA. 13 Importin N-terminal. NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|Ran GTPase binding|protein transporter activity breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 ACAGTTCTACCTGCTCCTGGG 0.697000 10 4 0 0 1 0 0 TRH 7200 broad.mit.edu 37 3 129694683 129694683 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:129694683C>T uc003enc.3 + 1 585 c.24C>T c.(22-24)ctC>ctT p.L8L NM_007117 NP_009048 P20396 TRH_HUMAN Homo sapiens thyrotropin-releasing hormone (TRH), mRNA. 8 L -> V (in dbSNP:rs5658). 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 GGTTGCTGCTCGCTCTGGCTT 0.701000 14 6 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276366 186276366 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:186276366G>A uc001gru.4 + 6 1566 c.1515G>A c.(1513-1515)gaG>gaA p.E505E MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.E464E|PRG4_uc009wyl.3_Silent_p.E412E|PRG4_uc009wym.3_Silent_p.E371E|PRG4_uc010poo.2_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA. 505 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTCCCAAGGAGCCTGCACCCA 0.647000 227 5 0 0 1 0 0 RGPD5 84220 broad.mit.edu 37 2 113147112 113147112 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:113147112G>A uc002ths.2 - 19 3602 c.3410C>T c.(3409-3411)tCt>tTt p.S1137F RGPD5_uc010fkk.2_Missense_Mutation_p.S997F|RGPD5_uc002tht.1_Missense_Mutation_p.S388F NM_005054 NP_001157935 Q99666 RGPD5_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA. 1137 RanBD1 1. intracellular transport cytoplasm binding central_nervous_system(1) 1 ATCACCATCAGAGAAATCACT 0.453000 268 37 0 0 1 0 0 GZMH 2999 broad.mit.edu 37 14 25076889 25076889 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:25076889G>A uc001wpr.1 - 2 313 c.268C>T c.(268-270)Cct>Tct p.P90S GZMH_uc010aly.1_Missense_Mutation_p.P90S|GZMH_uc010alz.1_Intron NM_033423 NP_219491 P20718 GRAH_HUMAN Homo sapiens granzyme H (cathepsin G-like 2, protein h-CCPX) (GZMH), mRNA. 90 Peptidase S1. apoptosis|cytolysis|proteolysis cytoplasm serine-type endopeptidase activity p.P90H(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1) 12 GBM - Glioblastoma multiforme(265;0.0267) CTTTTCACAGGGATAAACTGC 0.532000 95 18 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44671958 44671958 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:44671958C>T uc010zxl.1 + 8 1378 c.1302C>T c.(1300-1302)gtC>gtT p.V434V SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.V411V NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA. 434 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TCCCCTCAGTCACAGGTGAAG 0.527000 123 83 0 0 1 0 0 OPN4 94233 broad.mit.edu 37 10 88416962 88416962 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:88416962C>T uc010qmk.1 + 2 528 c.301C>T c.(301-303)Cgt>Tgt p.R101C OPN4_uc001kdp.3_Missense_Mutation_p.R101C|OPN4_uc001kdq.3_Intron NM_001030015 NP_001025186 Q9UHM6 OPN4_HUMAN Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA. 97 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 agctgtgcttcgtggagtcac 0.547000 40 8 0 0 1 0 0 CEP63 80254 broad.mit.edu 37 3 134280237 134280237 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:134280237C>T uc003eqo.1 + 15 2421 c.1972C>T c.(1972-1974)Ccc>Tcc p.P658S CEP63_uc003eql.1_Missense_Mutation_p.P450S|CEP63_uc003eqm.3_Intron|CEP63_uc003eqn.1_Missense_Mutation_p.P496S NM_025180 NP_079456 Q96MT8 CEP63_HUMAN Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA. 658 DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GCCTGTATCTCCCCTTGGTTC 0.373000 55 21 0 0 1 0 0 REPS1 85021 broad.mit.edu 37 6 139262604 139262604 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:139262604C>T uc003qii.3 - 7 1582 c.1003G>A c.(1003-1005)Gat>Aat p.D335N REPS1_uc003qig.4_Missense_Mutation_p.D335N|REPS1_uc011edr.2_Missense_Mutation_p.D335N|REPS1_uc003qij.3_Missense_Mutation_p.D335N|REPS1_uc003qik.3_5'UTR NM_031922 NP_114128 Q96D71 REPS1_HUMAN Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA. 335 EF-hand.|EH 2. coated pit|plasma membrane SH3 domain binding|calcium ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) AATGCACCATCTTTATCAAAG 0.358000 77 17 0 0 1 0 0 IP6K2 51447 broad.mit.edu 37 3 48726058 48726058 + Missense_Mutation SNP T C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:48726058T>C uc003cuq.3 - 5 1390 c.929A>G c.(928-930)aAg>aGg p.K310R NCKIPSD_uc003cun.3_5'Flank|NCKIPSD_uc003cum.3_5'Flank|NCKIPSD_uc010hkh.2_5'Flank|IP6K2_uc003cup.3_Missense_Mutation_p.K310R NM_016291 NP_057375 Q9UHH9 IP6K2_HUMAN Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA. 310 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 CTCAGTCAGCTTCTTGAGCAC 0.577000 34 21 0 0 1 0 0 RETNLB 84666 broad.mit.edu 37 3 108475939 108475939 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:108475939C>T uc003dxh.2 - 0 192 c.94G>A c.(94-96)Gat>Aat p.D32N NM_032579 NP_115968 Q9BQ08 RETNB_HUMAN Homo sapiens resistin like beta (RETNLB), mRNA. 32 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 ATCTTCTTATCCATAACGGAG 0.512000 20 9 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179296772 179296772 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:179296772G>A uc003mlh.3 - 16 2823 c.2788C>T c.(2788-2790)Cca>Tca p.P930S TBC1D9B_uc003mli.3_Missense_Mutation_p.P930S|TBC1D9B_uc003mlj.3_Missense_Mutation_p.P930S|TBC1D9B_uc003mlf.3_5'Flank|TBC1D9B_uc003mlg.3_Missense_Mutation_p.P106S|TBC1D9B_uc011dgv.2_Missense_Mutation_p.P106S|TBC1D9B_uc011dgw.1_Missense_Mutation_p.P106S|TBC1D9B_uc003mlk.1_Missense_Mutation_p.P88S NM_198868 NP_942568 Q66K14 TBC9B_HUMAN Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA. 930 integral to membrane|intracellular Rab GTPase activator activity|calcium ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCTCACCTGGGGGAAGGTGT 0.622000 20 4 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6999988 6999988 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:6999988G>A uc002knm.3 - 30 4485 c.4391C>T c.(4390-4392)cCc>cTc p.P1464L LAMA1_uc010wzj.2_Missense_Mutation_p.P940L NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 1464 Laminin EGF-like 16. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GACACAAGTGGGACTAAAACT 0.403000 25 11 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168233477 168233477 + Silent SNP G T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:168233477G>T uc010jjg.3 - 8 1329 c.909C>A c.(907-909)gcC>gcA p.A303A SLIT3_uc003mab.3_Silent_p.A303A|SLIT3_uc010jji.2_Silent_p.A303A|SLIT3_uc003mac.1_Silent_p.A100A NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 303 LRRNT 2. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCGGCAAGTTGGCAGGAATCT 0.577000 126 10 0.000442599 0.000445155 1 1 0 ALKBH8 91801 broad.mit.edu 37 11 107422633 107422633 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:107422633G>A uc010rvr.2 - 5 676 c.601C>T c.(601-603)Cct>Tct p.P201S ALKBH8_uc001pjk.3_5'UTR|ALKBH8_uc010rvq.2_Missense_Mutation_p.P64S|ALKBH8_uc009yxp.3_Missense_Mutation_p.P201S|ALKBH8_uc001pjl.3_Non-coding_Transcript NM_138775 NP_620130 Q96BT7 ALKB8_HUMAN Homo sapiens alkB, alkylation repair homolog 8 (E. coli) (ALKBH8), mRNA. 201 response to DNA damage stimulus cytosol|nucleus RNA binding|metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|tRNA (uracil) methyltransferase activity p.L200V(1) breast(2)|large_intestine(2)|lung(5) 9 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518) CAAATGTCAGGAAGACCTACA 0.318000 3 8 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 31045476 31045476 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr21:31045476G>A uc002yno.1 - 3 1017 c.553C>T c.(553-555)Cgt>Tgt p.R185C GRIK1_uc002ynn.3_Missense_Mutation_p.R185C|GRIK1_uc011acs.2_Missense_Mutation_p.R185C|GRIK1_uc011act.2_Missense_Mutation_p.R129C|GRIK1_uc010glq.1_Missense_Mutation_p.R43C|GRIK1_uc002ynr.3_Missense_Mutation_p.R185C NM_000830 NP_000821 P39086 GRIK1_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA. 185 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TCTTGTAGACGAATTAGACCT 0.393000 26 9 0 0 1 0 0 TSSK1B 83942 broad.mit.edu 37 5 112770472 112770472 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:112770472G>A uc003kqm.2 - 0 257 c.65C>T c.(64-66)tCc>tTc p.S22F MCC_uc003kql.4_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA. 22 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) TTTTGCATAGGAGCCCTCTCC 0.537000 24 9 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85383770 85383770 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:85383770G>A uc002ble.3 + 4 2033 c.1866G>A c.(1864-1866)ctG>ctA p.L622L NM_020778 NP_065829 Q96L96 ALPK3_HUMAN Homo sapiens alpha-kinase 3 (ALPK3), mRNA. 622 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) ACATGTACCTGGAGAACACCC 0.647000 40 21 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42224816 42224816 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:42224816G>A uc003ose.2 - 10 2984 c.2421C>T c.(2419-2421)ttC>ttT p.F807F TRERF1_uc011duq.1_Silent_p.F704F|TRERF1_uc003osb.2_Silent_p.F543F|TRERF1_uc003osc.2_Silent_p.F543F|TRERF1_uc003osd.2_Silent_p.F787F NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 787 ELM2.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TTTCTGCTTGGAATCTCAAGC 0.473000 58 28 0 0 1 0 0 MAP3K8 1326 broad.mit.edu 37 10 30739328 30739328 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:30739328C>T uc001ivi.2 + 4 1258 c.646C>T c.(646-648)Ctg>Ttg p.L216L MAP3K8_uc009xlf.2_Silent_p.L216L|MAP3K8_uc001ivj.2_Silent_p.L216L NM_005204 NP_005195 P41279 M3K8_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 8 (MAP3K8), transcript variant 1, mRNA. 216 Protein kinase. T cell costimulation|cell cycle cytosol ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Prostate(175;0.151) AGGGTCTGTTCTGGAGAAACT 0.483000 34 11 0 0 1 0 0 DBC1 1620 broad.mit.edu 37 9 121930123 121930123 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:121930123C>T uc004bkc.2 - 7 1981 c.1525G>A c.(1525-1527)Gag>Aag p.E509K NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 509 cell cycle arrest|cell death cytoplasm protein binding p.E509D(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 AGGCGGATCTCGTTGCTGATG 0.552000 29 20 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39358849 39358849 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr13:39358849G>A uc001uwv.3 + 5 6232 c.5923G>A c.(5923-5925)Gaa>Aaa p.E1975K FREM2_uc001uww.3_Missense_Mutation_p.E61K NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 1975 Calx-beta 2. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CGAGGAGGAGGAAACCTTCCA 0.498000 44 14 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148854073 148854073 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:148854073C>T uc003qme.1 + 13 2180 c.1705C>T c.(1705-1707)Ccc>Tcc p.P569S SASH1_uc011eeb.1_Missense_Mutation_p.P330S|SASH1_uc003qmf.1_5'UTR NM_015278 NP_056093 O94885 SASH1_HUMAN Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA. 569 SH3. protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CACCCCCAGTCCCTATGACAC 0.582000 131 23 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37291415 37291415 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:37291415C>T uc001caz.2 - 10 1678 c.1543G>A c.(1543-1545)Gcc>Acc p.A515T GRIK3_uc001cba.1_Missense_Mutation_p.A515T NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 515 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.A515D(1) breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GGGGCCACGGCCAGATCTGCC 0.527000 31 23 0 0 1 0 0 TCRB 0 broad.mit.edu 37 7 142099611 142099611 + Missense_Mutation SNP A C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:142099611A>C uc003vyz.1 - 1 191 c.191T>G c.(190-192)tTt>tGt p.F64C TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.F64C SubName: Full=Uncharacterized protein; ATAAGTCAGAAACTCTGGCCC 0.517000 54 56 0 0 1 0 0 SETD7 80854 broad.mit.edu 37 4 140468193 140468193 + Missense_Mutation SNP G C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:140468193G>C uc003ihw.3 - 1 337 c.51C>G c.(49-51)gaC>gaG p.D17E SETD7_uc003ihx.3_Missense_Mutation_p.D17E NM_030648 NP_085151 Q8WTS6 SETD7_HUMAN Homo sapiens SET domain containing (lysine methyltransferase) 7 (SETD7), mRNA. 17 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 8 all_hematologic(180;0.156) ATCCGTCATCGTCCAGGTGCC 0.527000 45 18 0 0 1 0 0 CYBA 1535 broad.mit.edu 37 16 88717414 88717414 + Missense_Mutation SNP T C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:88717414T>C uc002flb.3 - 0 44 c.8A>G c.(7-9)cAg>cGg p.Q3R CYBA_uc002fld.1_Missense_Mutation_p.Q3R|CYBA_uc010chx.1_Missense_Mutation_p.Q3R|CYBA_uc002fle.1_Missense_Mutation_p.Q3R NM_000101 NP_000092 P13498 CY24A_HUMAN Homo sapiens cytochrome b-245, alpha polypeptide (CYBA), mRNA. 3 cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport NADPH oxidase complex|stored secretory granule SH3 domain binding|electron carrier activity|heme binding|protein heterodimerization activity p.Q3*(1) endometrium(1)|liver(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0478) CCACTCGATCTGCCCCATGGC 0.736000 8 3 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394323 233394323 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:233394323G>A uc001hvl.2 - 4 1520 c.1285C>T c.(1285-1287)Cct>Tct p.P429S PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 429 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GTGATTACAGGAATTGAGATC 0.577000 84 44 0 0 1 0 0 LOC646813 646813 broad.mit.edu 37 11 50375243 50375243 + RNA SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:50375243C>T uc001nhe.2 + 2 c.134C>T LOC646813_uc001nhf.1_Intron|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_5'Flank Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA. AGACTGACTTCCTTTTGATAG 0.318000 13 7 0 0 1 0 0 ACTL9 284382 broad.mit.edu 37 19 8807842 8807842 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:8807842C>T uc002mkl.2 - 0 1331 c.1210G>A c.(1210-1212)Gag>Aag p.E404K NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN Homo sapiens actin-like 9 (ACTL9), mRNA. 404 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 CCCTGTTCCTCGTACTGCTCC 0.637000 47 32 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56581523 56581523 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:56581523G>A uc002iwj.2 - 13 1654 c.1544C>T c.(1543-1545)cCc>cTc p.P515L NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN Homo sapiens myotubularin related protein 4 (MTMR4), mRNA. 515 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity p.P515T(1) breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCGCTCACAGGGGTTGTTGGC 0.547000 68 50 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160789119 160789119 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:160789119C>T uc001fwu.3 + 6 1503 c.1453C>T c.(1453-1455)Cca>Tca p.P485S LY9_uc001fwv.3_Missense_Mutation_p.P485S|LY9_uc001fww.3_Missense_Mutation_p.P395S|LY9_uc001fwy.1_Missense_Mutation_p.P297S|LY9_uc001fwz.3_Missense_Mutation_p.P137S NM_002348 NP_002339 Q9HBG7 LY9_HUMAN Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA. 485 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) AGGTTCAGTCCCAGCCTTCTG 0.488000 73 13 0 0 1 0 0 FAM83E 54854 broad.mit.edu 37 19 49116588 49116589 + Missense_Mutation DNP GG AA AA TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:49116588_49116589GG>AA uc002pjn.2 - 0 106_107 c.41_42CC>TT c.(40-42)tcc>tTT p.S14F NM_017708 NP_060178 Q2M2I3 FA83E_HUMAN Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA. 14 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CCCTGGGACCGGAGTCCACTCC 0.698000 10 8 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39225968 39225968 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:39225968G>A uc003cjk.2 - 1 5198 c.4969C>T c.(4969-4971)Cct>Tct p.P1657S XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.P340S|XIRP1_uc021wvz.1_Missense_Mutation_p.P1657S NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 1657 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) AAAACCCGAGGAGGGCACAAA 0.532000 37 21 0 0 1 0 0 GALK2 2585 broad.mit.edu 37 15 49584706 49584706 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:49584706C>T uc001zxj.1 + 7 1037 c.939C>T c.(937-939)acC>acT p.T313T GALK2_uc001zxi.1_Silent_p.T302T|GALK2_uc010ufb.1_Silent_p.T289T|GALK2_uc001zxk.2_Non-coding_Transcript|GALK2_uc010ufc.1_Silent_p.T289T NM_002044 NP_002035 Q01415 GALK2_HUMAN Homo sapiens galactokinase 2 (GALK2), transcript variant 1, mRNA. 313 galactose metabolic process cytoplasm ATP binding|N-acetylgalactosamine kinase activity|galactokinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 all_lung(180;0.000325) all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05) AACTCCGAACCCAAATCCTGA 0.458000 29 12 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104641567 104641567 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:104641567C>T uc001yos.4 + 11 2442 c.2442C>T c.(2440-2442)ttC>ttT p.F814F NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN Homo sapiens kinesin family member 26A (KIF26A), mRNA. 814 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CGCCTGACTTCGTGCCCATCA 0.692000 18 7 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42237219 42237219 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:42237219C>T uc003ose.2 - 4 673 c.110G>A c.(109-111)gGg>gAg p.G37E TRERF1_uc011duq.1_Missense_Mutation_p.G37E|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.G37E NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 37 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AACTGCATTCCCATAGTTGTG 0.572000 61 27 0 0 1 0 0 CPT1B 1375 broad.mit.edu 37 22 51009660 51009660 + Missense_Mutation SNP C T T rs141885850 TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:51009660C>T uc003bmm.3 - 14 1901 c.1802G>A c.(1801-1803)cGg>cAg p.R601Q CPT1B_uc003bmk.4_Missense_Mutation_p.R601Q|CPT1B_uc003bml.3_Missense_Mutation_p.R601Q|CPT1B_uc003bmo.3_Missense_Mutation_p.R601Q|CPT1B_uc011asa.2_Missense_Mutation_p.R567Q|CPT1B_uc003bmn.3_Missense_Mutation_p.R601Q|CPT1B_uc011asb.2_Missense_Mutation_p.R520Q|CPT1B_uc003bmp.3_Missense_Mutation_p.R396Q|CPT1B_uc021wsc.1_Non-coding_Transcript|BC048192_uc003bmr.1_Non-coding_Transcript NM_004377 NP_689452 Q92523 CPT1B_HUMAN Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 601 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) AGTCTCAGTCCGTCCCTCCCG 0.577000 73 24 0 0 1 0 0 GPR115 221393 broad.mit.edu 37 6 47680210 47680210 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:47680210C>T uc003oyz.1 + 5 589 c.589C>T c.(589-591)Ccc>Tcc p.P197S GPR115_uc003oza.1_Missense_Mutation_p.P140S|GPR115_uc003ozb.1_Missense_Mutation_p.P140S|RN7SK_uc021zaf.1_5'Flank NM_153838 NP_722580 Q8IZF3 GP115_HUMAN Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA. 140 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 TAAGAACTGCCCCTTTGATTA 0.398000 93 13 0 0 1 0 0 IFNW1 3467 broad.mit.edu 37 9 21141427 21141427 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:21141427G>A uc003zol.1 - 0 718 c.143C>T c.(142-144)tCc>tTc p.S48F NM_002177 NP_002168 P05000 IFNW1_HUMAN Homo sapiens interferon, omega 1 (IFNW1), mRNA. 48 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|lung(2)|ovary(1) 5 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CAAGAAAGGGGAGATTCTCCT 0.517000 92 58 0 0 1 0 0 OR1D2 4991 broad.mit.edu 37 17 2995398 2995398 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:2995398C>T uc010vrb.2 - 0 893 c.893G>A c.(892-894)gGg>gAg p.G298E NM_002548 NP_002539 P34982 OR1D2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA. 298 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 TCCCAGAGCCCCATGCATGTC 0.468000 65 20 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160843705 160843705 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:160843705C>T uc002ube.2 - 11 2211 c.1999G>A c.(1999-2001)Gac>Aac p.D667N PLA2R1_uc010zcp.2_Missense_Mutation_p.D667N|PLA2R1_uc002ubf.3_Missense_Mutation_p.D667N NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 667 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GACTCCCAGTCCAAATAGCAG 0.458000 30 23 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70925841 70925841 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:70925841G>A uc001swb.4 - 29 5854 c.5824C>T c.(5824-5826)Cac>Tac p.H1942Y BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Missense_Mutation_p.H1852Y|PTPRB_uc010stp.2_Missense_Mutation_p.H1852Y|PTPRB_uc001swc.4_Missense_Mutation_p.H2160Y|PTPRB_uc001swa.4_Missense_Mutation_p.H2072Y NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1942 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) TGAACCCTGTGAAGTCTTAGG 0.478000 36 6 0 0 1 0 0 PDE3B 5140 broad.mit.edu 37 11 14852256 14852256 + Missense_Mutation SNP A G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:14852256A>G uc001mln.3 + 7 2173 c.1820A>G c.(1819-1821)aAc>aGc p.N607S PDE3B_uc010rcr.2_Missense_Mutation_p.N556S NM_000922 NP_000913 Q13370 PDE3B_HUMAN Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA. 607 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GAAGAAGAAAACATTTTCTCG 0.284000 17 14 0 0 1 0 0 ARGFX 503582 broad.mit.edu 37 3 121305209 121305209 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:121305209C>T uc003eef.3 + 4 805 c.710C>T c.(709-711)cCt>cTt p.P237L NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN Homo sapiens arginine-fifty homeobox (ARGFX), mRNA. 237 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L236I(1) kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) TACAATCTTCCTGATGAGAAT 0.463000 71 28 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82763878 82763878 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:82763878C>T uc003uhx.2 - 2 3277 c.2988G>A c.(2986-2988)gtG>gtA p.V996V PCLO_uc003uhv.2_Silent_p.V996V NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 942 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.V996V(6)|p.V942V(2) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTCCTTTTTCACAGGTATAC 0.468000 38 8 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31319635 31319635 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:31319635C>T uc010dmg.1 + 10 2322 c.2267C>T c.(2266-2268)tCc>tTc p.S756F ASXL3_uc002kxq.2_Missense_Mutation_p.S463F NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 756 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TCTCCAATTTCCAACTCTTCC 0.443000 98 52 0 0 1 0 0 LGI1 9211 broad.mit.edu 37 10 95517909 95517909 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:95517909C>T uc001kjc.4 + 0 344 c.8C>T c.(7-9)tCa>tTa p.S3L LGI1_uc021pwk.1_Missense_Mutation_p.S3L|LGI1_uc010qnv.2_Missense_Mutation_p.S3L|LGI1_uc009xui.3_Non-coding_Transcript NM_005097 NP_005088 O95970 LGI1_HUMAN Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA. 3 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) TGCATGGAATCAGAAAGAAGC 0.443000 15 10 0 0 1 0 0 AK309896 0 broad.mit.edu 37 9 66513833 66513833 + RNA SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:66513833G>A uc010mnh.1 - 5 c.915C>T Homo sapiens cDNA FLJ20444 fis, clone KAT05128. TCTTCTACATGATCAACGCAG 0.488000 59 7 0 0 1 0 0 C6orf70 55780 broad.mit.edu 37 6 170160048 170160048 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:170160048C>T uc003qxg.1 + 6 753 c.720C>T c.(718-720)ctC>ctT p.L240L C6orf70_uc011ehb.1_Silent_p.L114L|C6orf70_uc003qxh.1_Silent_p.L240L|C6orf70_uc010kky.1_Silent_p.L114L NM_018341 NP_060811 Q5T6L9 CF070_HUMAN Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA. 240 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) TTACAAACCTCGAGGATTTGA 0.378000 46 13 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40354296 40354296 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:40354296C>T uc002omp.4 - 34 16181 c.16173G>A c.(16171-16173)gcG>gcA p.A5391A NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 5391 VWFD 13. 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) ATTTCTCCATCGCTGGCTTCT 0.542000 36 8 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32812098 32812098 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr13:32812098C>T uc001utx.3 + 43 6889 c.6393C>T c.(6391-6393)tcC>tcT p.S2131S FRY_uc010tdw.2_Non-coding_Transcript NM_023037 NP_075463 Q5TBA9 FRY_HUMAN Homo sapiens furry homolog (Drosophila) (FRY), mRNA. 2131 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) CCAAAATATCCATGGTGGATG 0.498000 70 50 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390130 197390130 + Splice_Site SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:197390130G>A uc001gtz.3 + 6 1381 c.1172_splice c.e6-1 p.G391_splice CRB1_uc010poz.2_Splice_Site_p.G322_splice|CRB1_uc009wza.3_Splice_Site_p.G279_splice|CRB1_uc010ppa.2_Splice_Site|CRB1_uc010ppb.2_Splice_Site_p.G391_splice|CRB1_uc010ppc.1_Splice_Site|CRB1_uc010ppd.2_Splice_Site|CRB1_uc001gub.1_Splice_Site_p.G40_splice NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 391 EGF-like 9. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TATTTAACAGGAATCCACTGC 0.348000 34 15 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35724284 35724284 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:35724284C>T uc003zxt.2 - 5 913 c.559G>A c.(559-561)Gag>Aag p.E187K TLN1_uc003zxu.4_Missense_Mutation_p.E187K NM_006289 NP_006280 Q9Y490 TLN1_HUMAN Homo sapiens talin 1 (TLN1), mRNA. 187 FERM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GTCTCGTGCTCCTCTACACCC 0.577000 48 18 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107580750 107580750 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:107580750C>T uc003vev.2 - 22 3678 c.3517G>A c.(3517-3519)Ggc>Agc p.G1173S LAMB1_uc003vew.2_Missense_Mutation_p.G1149S NM_002291 NP_002282 P07942 LAMB1_HUMAN Homo sapiens laminin, beta 1 (LAMB1), mRNA. 1149 Laminin EGF-like 13. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACACACTGGCCCGTGGACTGG 0.572000 40 48 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247150781 247150781 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:247150781G>A uc009xgu.3 - 3 1221 c.1036C>T c.(1036-1038)Cat>Tat p.H346Y ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron NM_020394 NP_065127 Q8IW36 ZN695_HUMAN Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA. 346 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TCTCCAGTATGAATTCTTCTA 0.383000 6 9 0 0 1 0 0 ZCCHC3 85364 broad.mit.edu 37 20 278715 278715 + Missense_Mutation SNP A G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:278715A>G uc002wdf.3 + 0 512 c.488A>G c.(487-489)aAg>aGg p.K163R NM_033089 NP_149080 Q9NUD5 ZCHC3_HUMAN Homo sapiens zinc finger, CCHC domain containing 3 (ZCCHC3), mRNA. 163 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) ggcccgggcAAGGGTCGCTTC 0.751000 2 3 0 0 1 0 0 CIZ1 25792 broad.mit.edu 37 9 130941272 130941272 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:130941272G>A uc011mas.2 - 7 1469 c.1304C>T c.(1303-1305)cCa>cTa p.P435L CIZ1_uc004btr.3_Missense_Mutation_p.P405L|CIZ1_uc004bts.3_Missense_Mutation_p.P376L|CIZ1_uc011maq.2_Intron|CIZ1_uc004btu.3_Intron|CIZ1_uc004btt.3_Missense_Mutation_p.P405L|CIZ1_uc011mar.2_Missense_Mutation_p.P304L|CIZ1_uc004btw.3_Intron|CIZ1_uc004btv.3_Missense_Mutation_p.P405L|CIZ1_uc004btx.2_Missense_Mutation_p.P381L NM_012127 NP_036259 Q9ULV3 CIZ1_HUMAN Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA. 405 Gln-rich. nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 ctgcacctgtggctgcacctg 0.622000 44 15 0 0 1 0 0 PRODH2 58510 broad.mit.edu 37 19 36297373 36297373 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:36297373C>T uc002obx.1 - 7 1206 c.1188G>A c.(1186-1188)atG>atA p.M396I NM_021232 NP_067055 Q9UF12 PROD2_HUMAN Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA. 396 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGGGGTCTTCCATCCCATGGA 0.607000 67 25 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38117330 38117330 + Splice_Site SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:38117330G>A uc003gtb.3 + 16 2916 c.2558_splice c.e16-1 p.G853_splice TBC1D1_uc011byd.2_Splice_Site_p.G947_splice|TBC1D1_uc010ifd.3_Splice_Site_p.G640_splice|TBC1D1_uc021xnh.1_Splice_Site|TBC1D1_uc021xni.1_Splice_Site NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA. 853 Rab-GAP TBC. nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TCTTTTCACAGGGCGAACCTT 0.388000 25 10 0 0 1 0 0 NOD2 64127 broad.mit.edu 37 16 50745178 50745178 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:50745178C>T uc002egm.1 + 3 1461 c.1356C>T c.(1354-1356)atC>atT p.I452I NOD2_uc021tia.1_Silent_p.I284I|NOD2_uc010cbk.1_Silent_p.I425I|NOD2_uc002egl.1_Silent_p.I230I|NOD2_uc010cbl.1_Silent_p.I230I|NOD2_uc010cbm.1_Silent_p.I230I|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA. 452 NACHT. JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) AACAGGGCATCGAGCTGTACC 0.642000 67 25 0 0 1 0 0 SEPT2 4735 broad.mit.edu 37 2 242285635 242285635 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:242285635C>T uc002wbh.3 + 13 1389 c.927C>T c.(925-927)ttC>ttT p.F309F SEPT2_uc002wbc.3_Silent_p.F299F|SEPT2_uc002wbd.3_Silent_p.F299F|SEPT2_uc002wbf.3_Silent_p.F299F|SEPT2_uc002wbg.3_Silent_p.F299F|SEPT2_uc010zop.2_Silent_p.F334F NM_006155 NP_006146 Q15019 SEPT2_HUMAN Homo sapiens septin 2 (SEPT2), transcript variant 2, mRNA. 299 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|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;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) ATGAAAACTTCCGTTCTGAGA 0.507000 30 10 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31324950 31324950 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:31324950C>T uc010dmg.1 + 11 5193 c.5138C>T c.(5137-5139)tCa>tTa p.S1713L ASXL3_uc002kxq.2_Missense_Mutation_p.S1420L NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1713 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 GCTTCCACCTCAAGTCCCATG 0.557000 51 26 0 0 1 0 0 C15orf23 90417 broad.mit.edu 37 15 40675132 40675132 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:40675132G>A uc001zll.3 + 0 211 c.96G>A c.(94-96)cgG>cgA p.R32R C15orf23_uc001zlo.3_Silent_p.R32R|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Silent_p.R32R NM_033286 NP_150628 Q9Y448 T4AF1_HUMAN Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA. 32 nucleus protein binding central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 14 all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798) CTAGCTACCGGAAGTTTCTAT 0.577000 20 39 0 0 1 0 0 ANGPT1 284 broad.mit.edu 37 8 108334142 108334142 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:108334142G>A uc003ymn.3 - 3 1258 c.790C>T c.(790-792)Ctt>Ttt p.L264F ANGPT1_uc011lhv.2_Missense_Mutation_p.L64F|ANGPT1_uc003ymo.3_Missense_Mutation_p.L264F|ANGPT1_uc003ymp.4_Missense_Mutation_p.L64F NM_001146 NP_001137 Q15389 ANGP1_HUMAN Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA. 264 Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TTAGTGCAAAGATTGACAAGG 0.393000 51 9 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147381226 147381226 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:147381226G>A uc021ovm.1 + 0 1144 c.1144G>A c.(1144-1146)Gaa>Aaa p.E382K GJA8_uc001epu.2_Missense_Mutation_p.E382K NM_005267 NP_005258 P48165 CXA8_HUMAN Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA. 382 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) TAAGGAGGGTGAAAAAGAAGA 0.572000 21 6 0 0 1 0 0 SCN3B 55800 broad.mit.edu 37 11 123513174 123513174 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:123513174G>A uc001pza.1 - 3 832 c.425C>T c.(424-426)cCc>cTc p.P142L SCN3B_uc001pzb.1_Missense_Mutation_p.P142L NM_001040151 NP_060870 Q9NY72 SCN3B_HUMAN Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA. 142 Ig-like C2-type. axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2) 26 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) GACTCTTAGGGGGATCAGCCG 0.587000 38 19 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21098308 21098308 + Silent SNP C T T rs73542653 byFrequency TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:21098308C>T uc010vbe.2 - 18 2739 c.2739G>A c.(2737-2739)ctG>ctA p.L913L NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 913 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGGTCTTGATCAGTTTATACG 0.453000 76 41 0 0 1 0 0 LOC283547 283547 broad.mit.edu 37 14 39304943 39304943 + RNA SNP G T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:39304943G>T uc010amw.2 - 0 c.3466C>A LOC283547_uc021rsj.1_Non-coding_Transcript|LOC283547_uc001wun.3_Non-coding_Transcript|LOC283547_uc001wuo.3_Non-coding_Transcript Homo sapiens uncharacterized LOC283547 (LOC283547), non-coding RNA. TCAAGTGTTAGCAGTGAGGGA 0.527000 13 3 0.115264 0.115396 1 1 0 OR10R2 343406 broad.mit.edu 37 1 158450255 158450255 + Missense_Mutation SNP T A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:158450255T>A uc010pik.2 + 0 588 c.588T>A c.(586-588)caT>caA p.H196Q AK057554_uc001fso.1_Non-coding_Transcript NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA. 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) AAGTCAATCATTACTTCTGTG 0.418000 164 6 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10541402 10541402 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:10541402G>A uc002gmq.2 - 26 3775 c.3687C>T c.(3685-3687)atC>atT p.I1229I NM_002470 NP_002461 P11055 MYH3_HUMAN Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA. 1229 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 AGAGGTCATCGATCTCCAGCT 0.567000 85 22 0 0 1 0 0 PIK3C3 5289 broad.mit.edu 37 18 39623734 39623734 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:39623734C>T uc002lap.3 + 19 2199 c.2141C>T c.(2140-2142)cCa>cTa p.P714L PIK3C3_uc010xcl.2_Missense_Mutation_p.P651L|PIK3C3_uc002laq.3_Missense_Mutation_p.P199L|PIK3C3_uc002lar.1_Missense_Mutation_p.P98L NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN Homo sapiens phosphoinositide-3-kinase, class 3 (PIK3C3), mRNA. 714 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 GAGAATGGGCCAAATGGGATT 0.348000 TSP Lung(28;0.18) 49 16 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114070489 114070489 + Missense_Mutation SNP C G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:114070489C>G uc003ebi.3 - 3 616 c.436G>C c.(436-438)Gtg>Ctg p.V146L ZBTB20_uc003ebj.3_Missense_Mutation_p.V73L|ZBTB20_uc010hqp.3_Missense_Mutation_p.V73L|ZBTB20_uc003ebk.3_Missense_Mutation_p.V73L|ZBTB20_uc003ebl.3_Missense_Mutation_p.V73L|ZBTB20_uc003ebm.3_Missense_Mutation_p.V73L|ZBTB20_uc003ebn.3_Missense_Mutation_p.V73L|ZBTB20-AS1_uc003ebo.2_5'Flank NM_001164342 NP_056457 Q9HC78 ZBT20_HUMAN Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA. 146 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) TGCACTGACACCACCGACGGG 0.612000 39 6 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33962640 33962640 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:33962640G>A uc001zhi.3 + 37 5813 c.5743G>A c.(5743-5745)Gaa>Aaa p.E1915K RYR3_uc010bar.3_Missense_Mutation_p.E1915K NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 1915 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ggaagaagaggaagaggagga 0.483000 27 8 0 0 1 0 0 LOC644669 644669 broad.mit.edu 37 18 15323276 15323276 + RNA SNP A T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:15323276A>T uc002ktd.1 - 2 c.183T>A Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA. ATCAACTGCAATTGCATTTGC 0.308000 9 6 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600589 29600589 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr13:29600589C>T uc001usl.4 + 0 1842 c.1784C>T c.(1783-1785)cCc>cTc p.P595L NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 585 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 AACACGTCCCCCAAAGTGCCT 0.537000 33 28 0 0 1 0 0 KRT73 319101 broad.mit.edu 37 12 53012211 53012211 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:53012211C>T uc001sas.3 - 0 133 c.98G>A c.(97-99)cGa>cAa p.R33Q NM_175068 NP_778238 Q86Y46 K2C73_HUMAN Homo sapiens keratin 73 (KRT73), mRNA. 33 Gly-rich.|Head. keratin filament structural molecule activity p.R33*(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) GCCCCCTGCTCGGTAGGAGGA 0.637000 97 21 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104083682 104083682 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:104083682C>T uc001tjw.3 + 28 3290 c.3104C>T c.(3103-3105)tCc>tTc p.S1035F NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 1035 FAS1 3. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CTCGTGCCTTCCCAACAAGCT 0.438000 67 10 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93837781 93837781 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:93837781G>A uc001pep.2 + 15 2927 c.2770G>A c.(2770-2772)Gaa>Aaa p.E924K AF086184_uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 924 Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CGTTGATTATGAATTTGCTCT 0.363000 31 18 0 0 1 0 0 SLC22A2 6582 broad.mit.edu 37 6 160668235 160668235 + Missense_Mutation SNP G T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:160668235G>T uc003qtf.3 - 4 1112 c.938C>A c.(937-939)tCt>tAt p.S313Y NM_003058 NP_003049 O15244 S22A2_HUMAN Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA. 313 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity p.S313P(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GGCGGGTAGAGATTTTCCATT 0.483000 24 12 0.00185496 0.00186137 1 1 0 MGAM 8972 broad.mit.edu 37 7 141736050 141736051 + Missense_Mutation DNP CC TT TT TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:141736050_141736051CC>TT uc003vwy.3 + 16 2095_2096 c.2041_2042CC>TT c.(2041-2043)ccg>TTg p.P681L NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 681 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGCATTTTATCCGTTTTCTAGA 0.475000 13 3 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147844654 147844654 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:147844654C>T uc003weu.2 + 16 3142 c.2626C>T c.(2626-2628)Cct>Tct p.P876S NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 876 Laminin G-like 3. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GTCACCAACCCCTCTCAACGA 0.552000 HNSCC(39;0.1) 73 87 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242511409 242511409 + Splice_Site SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:242511409G>A uc001hzn.2 - 3 553 c.326_splice c.e3+1 p.R109_splice PLD5_uc021pll.1_Silent_p.V14V|PLD5_uc001hzl.4_Splice_Site_p.R47_splice|PLD5_uc001hzm.4_5'UTR|PLD5_uc001hzo.2_Silent_p.V14V NM_152666 NP_001182741 Q8N7P1 PLD5_HUMAN Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA. 109 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) ACCTCTTACCGACATTTATTT 0.433000 62 10 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196741396 196741396 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:196741396C>T uc002utj.4 - 36 6090 c.5989G>A c.(5989-5991)Gaa>Aaa p.E1997K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1997 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTGTAGATTTCCTTATTTAGT 0.303000 28 8 0 0 1 0 0 NXPH3 11248 broad.mit.edu 37 17 47656328 47656328 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:47656328G>A uc002ipa.3 + 1 709 c.425G>A c.(424-426)gGa>gAa p.G142E NM_007225 NP_009156 O95157 NXPH3_HUMAN Homo sapiens neurexophilin 3 (NXPH3), mRNA. 142 III. neuropeptide signaling pathway extracellular region endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17) ACAGGCCAGGGAAACATCTCC 0.542000 49 10 0 0 1 0 0 KIF5C 3800 broad.mit.edu 37 2 149829872 149829872 + Silent SNP A G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:149829872A>G uc010zbu.2 + 11 1535 c.1140A>G c.(1138-1140)gaA>gaG p.E380E KIF5C_uc002tws.1_Non-coding_Transcript NM_004522 NP_004513 O60282 KIF5C_HUMAN Homo sapiens kinesin family member 5C (KIF5C), mRNA. 380 Kinesin-motor. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) CTGAGGATGAACAGATCAGTG 0.463000 20 15 0 0 1 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66989016 66989016 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:66989016G>A uc003xvs.1 + 3 532 c.241G>A c.(241-243)Gac>Aac p.D81N DNAJC5B_uc003xvt.1_Non-coding_Transcript NM_033105 NP_149096 Q9UF47 DNJ5B_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA. 81 J. protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) AAGCATATACGACAAGTACGG 0.468000 114 42 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31323920 31323920 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c 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) 101 44 0 0 1 0 0 RALGDS 5900 broad.mit.edu 37 9 136031416 136031416 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:136031416G>A uc011mcw.2 - 3 492 c.211C>T c.(211-213)Cca>Tca p.P71S RALGDS_uc010nab.3_Silent_p.L58L|RALGDS_uc011mcx.2_Intron|RALGDS_uc004ccw.3_Silent_p.L58L|RALGDS_uc010nac.1_5'UTR|RALGDS_uc004ccy.1_Silent_p.L58L NM_001042368 NP_001035827 Q12967 GNDS_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 2, mRNA. 0 Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CCACGGGCTGGAGTGGCTTCT 0.552000 T CIITA """PMBL, Hodgkin Lymphona, """ 35 14 0 0 1 0 0 FAM75D3 389762 broad.mit.edu 37 9 84562780 84562780 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:84562780G>A uc010mpt.2 + 3 2698 c.2612G>A c.(2611-2613)cGa>cAa p.R871Q AK097447_uc004ami.1_Intron|DQ577940_uc004amm.1_5'Flank NM_207416 NP_997299 P0C874 YI039_HUMAN Homo sapiens family with sequence similarity 75, member D3 (FAM75D3), mRNA. 871 integral to membrane ATTAAACATCGAAATTTGGCA 0.458000 12 3 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22383122 22383122 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:22383122C>T uc001yuc.1 + 6 1631 c.650C>T c.(649-651)tCc>tTc p.S217F abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.S217F NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTTCTGGCTTCCTATGCAGTC 0.502000 107 25 0 0 1 0 0 CERS3 204219 broad.mit.edu 37 15 100996217 100996217 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:100996217G>A uc002bwa.3 - 12 1484 c.913C>T c.(913-915)Cac>Tac p.H305Y CERS3_uc002bvz.3_Missense_Mutation_p.H294Y|CERS3_uc002bwb.3_Missense_Mutation_p.H294Y NM_178842 NP_849164 Q8IU89 CERS3_HUMAN Homo sapiens ceramide synthase 3 (CERS3), mRNA. 294 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GGCTCGAGGTGATACATAGGC 0.378000 19 16 0 0 1 0 0 XKR9 389668 broad.mit.edu 37 8 71646647 71646647 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:71646647C>T uc003xyq.3 + 4 1644 c.1110C>T c.(1108-1110)ttC>ttT p.F370F XKR9_uc010lzd.3_Silent_p.F238F|XKR9_uc010lze.3_Silent_p.F370F NM_001011720 NP_001011720 Q5GH70 XKR9_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA. 370 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) TGAGATATTTCCTAATGGAAT 0.294000 23 13 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 141016188 141016188 + Nonsense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:141016188C>T uc004cog.3 + 45 6896 c.6751C>T c.(6751-6753)Cga>Tga p.R2251* CACNA1B_uc022bqn.1_Silent_p.L2188L|CACNA1B_uc004coi.3_Nonsense_Mutation_p.R1465* NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 2253 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CCCTGGCTCTCGAATTGGCTC 0.662000 38 15 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 107712861 107712861 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:107712861C>T uc001tmk.1 + 0 665 c.144C>T c.(142-144)ggC>ggT p.G48G BTBD11_uc009zut.1_Silent_p.G48G|BTBD11_uc001tmj.3_Silent_p.G48G NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA. 48 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CCCCGTATGGCGGGAGCTGCT 0.632000 6 4 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711644 155711644 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:155711644C>T uc002tyv.1 + 2 1520 c.1325C>T c.(1324-1326)tCa>tTa p.S442L KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA. 442 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CGAATAAGTTCAGTTCCGGGC 0.428000 70 14 0 0 1 0 0 CYLD 1540 broad.mit.edu 37 16 50813882 50813882 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:50813882C>T uc021tib.1 + 6 1568 c.1445C>T c.(1444-1446)cCt>cTt p.P482L CYLD_uc002ego.3_Missense_Mutation_p.P479L|CYLD_uc010cbs.1_Missense_Mutation_p.P479L|CYLD_uc002egp.1_Missense_Mutation_p.P479L|CYLD_uc002egq.1_Missense_Mutation_p.P479L|CYLD_uc002egr.1_Missense_Mutation_p.P479L|CYLD_uc002egs.1_Missense_Mutation_p.P479L NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA. 482 Interaction with IKBKG/NEMO.|Interaction with TRIP. Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) AAGGAGAACCCTCCTTTCTAT 0.502000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 25 11 0 0 1 0 0 SPAG1 6674 broad.mit.edu 37 8 101232520 101232520 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:101232520C>T uc003yjh.2 + 12 1635 c.1549C>T c.(1549-1551)Cat>Tat p.H517Y SPAG1_uc003yji.2_Missense_Mutation_p.H517Y NM_172218 NP_757367 Q07617 SPAG1_HUMAN Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA. 517 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) TCTGGAACTTCATCCATTCTC 0.378000 54 29 0 0 1 0 0 MAP7 9053 broad.mit.edu 37 6 136709565 136709565 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:136709565G>A uc011edg.2 - 4 807 c.558C>T c.(556-558)ggC>ggT p.G186G MAP7_uc011edf.2_Silent_p.G149G|MAP7_uc010kgu.3_Silent_p.G186G|MAP7_uc011edh.2_Silent_p.G186G|MAP7_uc010kgv.3_Silent_p.G186G|MAP7_uc010kgs.3_Silent_p.G18G|MAP7_uc011edi.2_Silent_p.G18G|MAP7_uc010kgq.2_Intron|MAP7_uc003qgz.3_Silent_p.G164G|MAP7_uc003qha.2_Silent_p.G164G|MAP7_uc010kgr.2_Silent_p.G18G|MAP7_uc010kgt.2_Silent_p.G186G NM_001198609 NP_001185538 Q14244 MAP7_HUMAN Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA. 164 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) CATGGAGAGAGCCTCCCCACG 0.473000 131 65 0 0 1 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51350637 51350637 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:51350637G>A uc001zyy.3 - 2 420 c.320C>T c.(319-321)cCt>cTt p.P107L NM_207381 NP_997264 Q5GJ75 TP8L3_HUMAN Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA. 107 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) AAAAACATCAGGACCTATGGt 0.338000 14 9 0 0 1 0 0 POTEG 404785 broad.mit.edu 37 14 19574185 19574185 + Splice_Site SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:19574185G>A uc001vuz.1 + 9 1295 c.1243_splice c.e9-1 p.V415_splice POTEG_uc001vva.1_Splice_Site|POTEG_uc010ahc.1_Splice_Site NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA. 415 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 TTTCATTCAAGGTTGAAGAAG 0.333000 63 14 0 0 1 0 0 PRMT5 10419 broad.mit.edu 37 14 23396824 23396824 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:23396824C>T uc001whm.1 - 3 452 c.361G>A c.(361-363)Gct>Act p.A121T PRMT5_uc001whl.1_Missense_Mutation_p.A104T|PRMT5_uc010tnf.1_Missense_Mutation_p.A15T|PRMT5_uc010tnh.1_Splice_Site_p.A77_splice|PRMT5_uc010tng.1_Splice_Site_p.A60_splice|PRMT5_uc001whn.1_Intron|TRNA_uc021rqs.1_5'Flank|TRNA_uc021rqt.1_5'Flank NM_006109 NP_006100 O14744 ANM5_HUMAN Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA. 121 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) AGCAGGAAAGCTGGAAGACCC 0.458000 34 9 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84560104 84560104 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:84560104C>T uc002bjz.4 + 11 1459 c.1235C>T c.(1234-1236)cCc>cTc p.P412L ADAMTSL3_uc010bmt.1_Missense_Mutation_p.P412L NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 412 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GAGATAATGCCCTATGACCAC 0.313000 49 20 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108477266 108477266 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:108477266G>A uc010ywk.2 + 12 1885 c.1803G>A c.(1801-1803)ggG>ggA p.G601G RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 601 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AATACATAGGGAGAAGTGTTC 0.318000 70 34 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76446342 76446342 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:76446342G>A uc010dhp.2 - 67 11159 c.11034C>T c.(11032-11034)tcC>tcT p.S3678S DNAH17_uc002jvq.3_5'Flank|DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GCACCTTGAGGGAGAACTGGT 0.612000 29 6 0 0 1 0 0 WDR25 79446 broad.mit.edu 37 14 100996221 100996221 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:100996221C>T uc010avx.3 + 6 1571 c.1478C>T c.(1477-1479)gCc>gTc p.A493V WDR25_uc001yhn.3_Missense_Mutation_p.A493V|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_Missense_Mutation_p.A236V NM_001161476 NP_078791 Q64LD2 WDR25_HUMAN Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA. 493 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) ACGGGCAGCGCCGATGGCCGG 0.662000 38 27 0 0 1 0 0 LUZP2 338645 broad.mit.edu 37 11 25004789 25004789 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:25004789C>T uc001mqs.3 + 8 989 c.715C>T c.(715-717)Cca>Tca p.P239S LUZP2_uc009yif.3_Missense_Mutation_p.P153S|LUZP2_uc009yig.3_Missense_Mutation_p.P197S NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA. 239 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 GATGTTACTCCCACCCAGGAA 0.448000 74 21 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51791169 51791169 + Nonsense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:51791169G>A uc010ufy.2 - 17 4477 c.4252C>T c.(4252-4254)Cga>Tga p.R1418* DMXL2_uc002abf.3_Nonsense_Mutation_p.R1418*|DMXL2_uc010bfa.3_Intron NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 1418 cell junction|synaptic vesicle membrane Rab GTPase binding p.R1418R(2) 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) GTATAATCTCGAGTACCATCT 0.408000 167 14 0 0 1 0 0 PPP1CC 5501 broad.mit.edu 37 12 111160329 111160329 + Missense_Mutation SNP A G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:111160329A>G uc001tru.3 - 4 966 c.695T>C c.(694-696)gTt>gCt p.V232A PPP1CC_uc021rdx.1_Missense_Mutation_p.V232A NM_002710 NP_002701 P36873 PP1G_HUMAN Homo sapiens protein phosphatase 1, catalytic subunit, gamma isozyme (PPP1CC), transcript variant 1, mRNA. 232 cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process MLL5-L complex|PTW/PP1 phosphatase complex|cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|nuclear speck|nucleolus metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity central_nervous_system(1)|large_intestine(2)|lung(3) 6 AAATTTTGCAACCACTTCTGC 0.408000 65 14 0 0 1 0 0 BAAT 570 broad.mit.edu 37 9 104124864 104124864 + Missense_Mutation SNP T C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:104124864T>C uc010mtd.3 - 3 1212 c.1103A>G c.(1102-1104)tAt>tGt p.Y368C BAAT_uc004bbd.4_Missense_Mutation_p.Y368C NM_001127610 NP_001692 Q14032 BAAT_HUMAN Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA. 368 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity p.P367S(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) CAGAGGAGAATAGGGAGGTTC 0.552000 24 21 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1443231 1443231 + Nonsense_Mutation SNP C A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:1443231C>A uc003jck.3 - 1 208 c.82G>T c.(82-84)Gag>Tag p.E28* NM_001044 NP_001035 Q01959 SC6A3_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA. 28 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) AGCTCCACCTCCTTCGGGCCC 0.632000 41 15 2.32078e-09 2.36145e-09 1 1 0 ALDH8A1 64577 broad.mit.edu 37 6 135265085 135265085 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:135265085G>A uc003qew.3 - 1 227 c.158C>T c.(157-159)gCc>gTc p.A53V ALDH8A1_uc011ecx.2_Missense_Mutation_p.A53V|ALDH8A1_uc003qex.3_Missense_Mutation_p.A53V|ALDH8A1_uc010kgh.3_5'UTR NM_022568 NP_072090 Q9H2A2 AL8A1_HUMAN Homo sapiens aldehyde dehydrogenase 8 family, member A1 (ALDH8A1), transcript variant 1, mRNA. 53 retinal metabolic process cytoplasm retinal dehydrogenase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) TTCTCTGGCGGCCTTGACCGC 0.587000 21 15 0 0 1 0 0 OR1N1 138883 broad.mit.edu 37 9 125288700 125288700 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:125288700C>T uc004bmn.1 - 0 873 c.873G>A c.(871-873)agG>agA p.R291R NM_012363 NP_036495 Q8NGS0 OR1N1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA. 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TGTCCTTGTTCCTTAGGCTAT 0.463000 23 5 0 0 1 0 0 ZNF718 255403 broad.mit.edu 37 4 60034 60034 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:60034G>A uc003fzv.1 + 2 370 c.214G>A c.(214-216)Gcc>Acc p.A72T ZNF718_uc003fzt.4_Missense_Mutation_p.A72T|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_Intron|ZNF718_uc011but.1_Intron NM_182524 NP_872330 Q3SXZ3 ZN718_HUMAN Homo sapiens zinc finger protein 595 (ZNF595), mRNA. 72 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A72T(1) all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) TGAGACAGCAGCCAAACCCCC 0.473000 113 10 0 0 1 0 0 ARHGAP4 393 broad.mit.edu 37 X 153184327 153184327 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chrX:153184327G>A uc004fjk.2 - 6 1049 c.991C>T c.(991-993)Ccc>Tcc p.P331S ARHGAP4_uc011mzf.2_Missense_Mutation_p.P308S|ARHGAP4_uc004fjl.2_Missense_Mutation_p.P371S|ARHGAP4_uc010nup.2_Non-coding_Transcript NM_001666 NP_001657 P98171 RHG04_HUMAN Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA. 331 Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGCAGCGGGGGACAGAAGACG 0.617000 32 64 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43933204 43933204 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:43933204C>T uc002xnn.2 - 2 494 c.307G>A c.(307-309)Gac>Aac p.D103N MATN4_uc002xnp.2_Missense_Mutation_p.D103N|MATN4_uc002xno.2_Missense_Mutation_p.D103N|MATN4_uc010zwr.1_Missense_Mutation_p.D51N|MATN4_uc002xnr.1_Missense_Mutation_p.D103N|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank NM_003833 NP_003824 O95460 MATN4_HUMAN Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA. 103 VWFA 1. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) GGCACCAGGTCGCGGATGGCG 0.662000 29 11 0 0 1 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401099 11401099 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:11401099G>A uc003gmq.3 - 1 854 c.531C>T c.(529-531)ttC>ttT p.F177F HS3ST1_uc021xmg.1_Silent_p.F177F NM_005114 NP_005105 O14792 HS3S1_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA. 177 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 CGCGCACCAGGAACTCCTCGA 0.592000 36 6 0 0 1 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100551373 100551373 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:100551373C>T uc001tgs.3 - 3 667 c.223G>A c.(223-225)Gaa>Aaa p.E75K GOLGA2P5_uc001tgt.3_Non-coding_Transcript|GOLGA2P5_uc021rcm.1_Non-coding_Transcript|DQ579681_uc001tgx.3_5'Flank Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 1, non-coding RNA. ACCCCCAGTTCTTGGGGCTGG 0.642000 45 20 0 0 1 0 0 CCDC28A 25901 broad.mit.edu 37 6 139094843 139094843 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:139094843G>A uc003qie.3 + 0 187 c.32G>A c.(31-33)gGg>gAg p.G11E LOC100507462_uc003qid.2_5'Flank NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA. 11 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) GCGACACTGGGGGAGCAGGAA 0.602000 133 49 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103207112 103207112 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:103207112G>A uc022ajr.1 - 31 4843 c.4683C>T c.(4681-4683)tcC>tcT p.S1561S RELN_uc022ajq.1_Silent_p.S1561S|RELN_uc010liz.3_Silent_p.S1561S NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 1561 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 p.I1560L(1) 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) GCAGGTCAATGGAAATGATCT 0.478000 46 47 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55534686 55534686 + Missense_Mutation SNP C A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:55534686C>A uc003xsd.1 + 2 773 c.625C>A c.(625-627)Ctc>Atc p.L209I RP1_uc011ldy.1_Missense_Mutation_p.L209I NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 209 Doublecortin 2. 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 p.L209R(1) 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) GGTTCCCAGCCTCCAGGCAGT 0.433000 24 3 0.150653 0.150653 1 1 0 MYO18B 84700 broad.mit.edu 37 22 26239861 26239861 + Splice_Site SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:26239861G>A uc003abz.1 + 18 3618 c.3368_splice c.e18+1 p.R1123_splice MYO18B_uc003aca.1_Splice_Site_p.R1004_splice|MYO18B_uc010guy.1_Splice_Site_p.R1005_splice|MYO18B_uc010guz.1_Splice_Site_p.R1004_splice|MYO18B_uc011aka.1_Splice_Site_p.R277_splice|MYO18B_uc011akb.1_Splice_Site_p.R636_splice NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 1123 Myosin head-like. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CAGTCAAAAAGGTGAGTTGGG 0.602000 26 23 0 0 1 0 0 TELO2 9894 broad.mit.edu 37 16 1545587 1545587 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:1545587C>T uc002cly.3 + 2 867 c.576C>T c.(574-576)gtC>gtT p.V192V TELO2_uc010uvg.1_Silent_p.V192V NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA. 192 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) GCGAGGAGGTCGTCCGGGTGC 0.667000 52 45 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197397107 197397107 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:197397107C>T uc001gtz.3 + 6 2861 c.2652C>T c.(2650-2652)ggC>ggT p.G884G CRB1_uc010poz.2_Silent_p.G815G|CRB1_uc009wza.3_Silent_p.G772G|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.G365G|CRB1_uc001gub.1_Silent_p.G533G NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 884 Laminin G-like 2. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TAACCCAAGGCTGTGCTGGAG 0.333000 27 12 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28542517 28542517 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:28542517C>T uc003nlo.3 - 2 2583 c.1965G>A c.(1963-1965)agG>agA p.R655R NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 655 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 CATCATGTTTCCTCTTCATTG 0.438000 67 54 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71653716 71653716 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:71653716C>T uc002shx.3 + 23 5040 c.4717C>T c.(4717-4719)Cct>Tct p.P1573S ZNF638_uc002shz.3_Missense_Mutation_p.P1573S|ZNF638_uc002shy.3_Missense_Mutation_p.P1573S|ZNF638_uc002sia.3_Missense_Mutation_p.P1573S|ZNF638_uc002sib.1_3'UTR|ZNF638_uc002sic.3_Missense_Mutation_p.P670S|ZNF638_uc002sid.3_5'UTR NM_014497 NP_055312 Q14966 ZN638_HUMAN Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA. 1573 RNA splicing cytoplasm|nuclear speck RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 CAAAAATGTTCCTTTCTCTGA 0.393000 27 16 0 0 1 0 0 CTAGE1 64693 broad.mit.edu 37 18 19997435 19997435 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:19997435C>T uc002ktv.1 - 0 444 c.340G>A c.(340-342)Gaa>Aaa p.E114K NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA. 114 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) CAGAGTATTTCATGCACAAGT 0.378000 87 47 0 0 1 0 0 DDX23 9416 broad.mit.edu 37 12 49226329 49226329 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:49226329G>A uc001rsm.3 - 13 1922 c.1831C>T c.(1831-1833)Cca>Tca p.P611S NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA. 611 Helicase ATP-binding. U5 snRNP|catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 TCCACCGCTGGGGGCATGGTG 0.582000 34 8 0 0 1 0 0 KIAA0564 23078 broad.mit.edu 37 13 42273300 42273300 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr13:42273300G>A uc001uyj.3 - 28 3541 c.3471C>T c.(3469-3471)ttC>ttT p.F1157F NM_015058 NP_055873 A3KMH1 K0564_HUMAN Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA. 1157 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) CTGTTCTTGGGAAGATATCAA 0.458000 81 12 0 0 1 0 0 CCDC136 64753 broad.mit.edu 37 7 128452053 128452053 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:128452053C>T uc003vnv.2 + 12 2644 c.2228C>T c.(2227-2229)tCc>tTc p.S743F CCDC136_uc003vnu.2_Intron|CCDC136_uc003vnx.2_Missense_Mutation_p.S559F|CCDC136_uc010llq.2_Missense_Mutation_p.S112F|CCDC136_uc003vny.2_Missense_Mutation_p.S353F NM_022742 NP_073579 Q96JN2 CC136_HUMAN Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA. 743 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 AGCCTTGAGTCCTACGGGAAG 0.493000 103 38 0 0 1 0 0 THADA 63892 broad.mit.edu 37 2 43808936 43808936 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:43808936G>A uc002rsw.4 - 7 1017 c.665C>T c.(664-666)cCc>cTc p.P222L THADA_uc002rsx.4_Missense_Mutation_p.P222L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc002rsz.3_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.P222L|THADA_uc002rtc.4_Missense_Mutation_p.P222L|THADA_uc002rtd.3_Missense_Mutation_p.P222L NM_001083953 NP_071348 Q6YHU6 THADA_HUMAN Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA. 222 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TTGCCATATGGGAGAATCGGA 0.338000 46 24 0 0 1 0 0 SAAL1 113174 broad.mit.edu 37 11 18118329 18118329 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:18118329G>A uc001mnq.3 - 2 372 c.322C>T c.(322-324)Cct>Tct p.P108S SAAL1_uc001mnr.3_Missense_Mutation_p.P108S NM_138421 NP_612430 Q96ER3 SAAL1_HUMAN Homo sapiens serum amyloid A-like 1 (SAAL1), mRNA. 108 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 CTTAATCGAGGACACTTGGAC 0.343000 15 7 0 0 1 0 0 OR2A1 346528 broad.mit.edu 37 7 144015523 144015523 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:144015523C>T uc011kud.2 + 0 306 c.306C>T c.(304-306)ctC>ctT p.L102L OR2A9P_uc003wec.1_Intron NM_001005287 NP_001005287 Q8NGT9 OR2A1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA. 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(3)|skin(2) 6 Melanoma(164;0.14) AGACCTTTCTCTGTTTGAGTT 0.562000 307 15 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62728911 62728911 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:62728911C>T uc001dah.4 - 6 2769 c.2392G>A c.(2392-2394)Gtg>Atg p.V798M KANK4_uc001dai.4_Missense_Mutation_p.V170M|KANK4_uc001daf.4_5'UTR|KANK4_uc001dag.4_Missense_Mutation_p.V154M NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA. 798 p.V797M(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 TAGGAGGCCACCACGGCGGGG 0.562000 34 8 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133759902 133759903 + Missense_Mutation DNP CC TT TT TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:133759902_133759903CC>TT uc004bzw.3 + 10 2228_2229 c.2225_2226CC>TT c.(2224-2226)tcc>tTT p.S742F ABL1_uc004bzv.3_Missense_Mutation_p.S761F NM_005157 NP_005148 P00519 ABL1_HUMAN Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA. 742 DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GACTTGCAGTCCACGGGAAGAC 0.614000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 29 10 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55222181 55222181 + RNA SNP C T T rs115666951 by1000genomes TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:55222181C>T uc002qgs.1 + 0 c.2581C>T LILRP2_uc002qgt.1_Non-coding_Transcript Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. CCCTGGAGCTCGTGGTCTCAG 0.627000 46 26 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101590171 101590171 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:101590171C>T uc001kqf.2 + 19 2867 c.2728C>T c.(2728-2730)Cgt>Tgt p.R910C NM_000392 NP_000383 Q92887 MRP2_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA. 910 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GAACAGCTTTCGTCGAACACT 0.478000 63 24 0 0 1 0 0 PAX2 5076 broad.mit.edu 37 10 102568940 102568940 + Missense_Mutation SNP A G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:102568940A>G uc001krk.4 + 7 1485 c.935A>G c.(934-936)aAc>aGc p.N312S PAX2_uc001krm.4_Missense_Mutation_p.N312S|PAX2_uc001krn.4_Missense_Mutation_p.N289S|PAX2_uc001kro.4_Missense_Mutation_p.N289S|PAX2_uc010qps.2_Missense_Mutation_p.N288S|PAX2_uc001krl.4_Missense_Mutation_p.N289S|PAX2_uc001krp.1_Missense_Mutation_p.N285S NM_003990 NP_003981 Q02962 PAX2_HUMAN Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA. 312 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity p.A311A(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) GCATCCACCAACCCTGAGCTG 0.587000 42 28 0 0 1 0 0 ANKMY1 51281 broad.mit.edu 37 2 241463561 241463561 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:241463561G>A uc010fzd.1 - 7 1698 c.1573C>T c.(1573-1575)Ccg>Tcg p.P525S ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Missense_Mutation_p.P295S|ANKMY1_uc002vyz.1_Missense_Mutation_p.P436S|ANKMY1_uc002vza.1_Missense_Mutation_p.P295S|ANKMY1_uc002vzd.1_Missense_Mutation_p.P295S|ANKMY1_uc010fze.2_Missense_Mutation_p.P105S|ANKMY1_uc002vze.3_Missense_Mutation_p.P197S NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA. 436 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) TTCACCAACGGGGAGTCCCCC 0.627000 47 18 0 0 1 0 0 XKR9 389668 broad.mit.edu 37 8 71646537 71646537 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:71646537C>T uc003xyq.3 + 4 1534 c.1000C>T c.(1000-1002)Ctt>Ttt p.L334F XKR9_uc010lzd.3_Missense_Mutation_p.L202F|XKR9_uc010lze.3_Missense_Mutation_p.L334F NM_001011720 NP_001011720 Q5GH70 XKR9_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA. 334 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) TCTTGGAATTCTTTTTCTTAT 0.323000 13 5 0 0 1 0 0 RASGRP2 10235 broad.mit.edu 37 11 64507231 64507231 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:64507231G>A uc009ypu.3 - 6 800 c.573C>T c.(571-573)ccC>ccT p.P191P RASGRP2_uc001oat.3_Silent_p.P93P|RASGRP2_uc001oau.3_Silent_p.P46P|RASGRP2_uc009ypv.3_Silent_p.P191P|RASGRP2_uc009ypw.3_Silent_p.P191P NM_001098671 NP_722541 Q7LDG7 GRP2_HUMAN Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA. 191 Ras-GEF. Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCTCCAGGACGGGGTTGTCCA 0.597000 42 29 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195698197 195698197 + RNA SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:195698197C>T uc003fvx.3 - 10 c.1676G>A SDHAP1_uc011btp.1_Non-coding_Transcript Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA. CTCTTACCTTCTGCATGCTGA 0.473000 18 4 0 0 1 0 0 CREB3L3 84699 broad.mit.edu 37 19 4171733 4171733 + Nonsense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:4171733C>T uc002lzl.3 + 9 1269 c.1153C>T c.(1153-1155)Cga>Tga p.R385* CREB3L3_uc002lzm.3_Nonsense_Mutation_p.R375*|CREB3L3_uc010xib.2_Nonsense_Mutation_p.R374*|CREB3L3_uc010xic.2_3'UTR NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA. 385 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) CCCAGGACCCCGACCCGAGGC 0.642000 178 5 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82764026 82764026 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:82764026G>A uc003uhx.2 - 2 3129 c.2840C>T c.(2839-2841)tCc>tTc p.S947F PCLO_uc003uhv.2_Missense_Mutation_p.S947F NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 893 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCCTGCAGTGGAAATTAAATT 0.532000 27 3 0 0 1 0 0 MTX2 10651 broad.mit.edu 37 2 177195314 177195314 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:177195314C>T uc002ukx.3 + 8 781 c.546C>T c.(544-546)gtC>gtT p.V182V MTX2_uc002ukw.3_Silent_p.V172V NM_006554 NP_006545 O75431 MTX2_HUMAN Homo sapiens metaxin 2 (MTX2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 182 protein targeting to mitochondrion mitochondrial outer membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181) TGTGTTAGGTCTTAGAGGATG 0.328000 194 75 0 0 1 0 0 C1orf101 257044 broad.mit.edu 37 1 244662343 244662343 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:244662343C>T uc001iam.3 + 6 450 c.391C>T c.(391-393)Cct>Tct p.P131S C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.3_Missense_Mutation_p.P131S|C1orf101_uc010pym.2_Intron|C1orf101_uc010pyn.2_Intron NM_001130957 NP_001124429 Q5SY80 CA101_HUMAN Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA. 131 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 36 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) AAGTGCAGATCCTGATGAGTT 0.363000 37 12 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10398403 10398403 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:10398403C>T uc002gmo.3 - 36 5405 c.5311G>A c.(5311-5313)Gag>Aag p.E1771K AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1771 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TTCAGCTCCTCAGCCATCATG 0.493000 89 58 0 0 1 0 0 VIM 7431 broad.mit.edu 37 10 17271887 17271887 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:17271887G>A uc001iou.2 + 1 879 c.466G>A c.(466-468)Gag>Aag p.E156K BC078172_uc001iot.1_Non-coding_Transcript NM_003380 NP_003371 P08670 VIME_HUMAN Homo sapiens vimentin (VIM), mRNA. 156 Coil 1B.|Rod. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGAGATGCGGGAGCTGCGCCG 0.642000 14 3 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76280818 76280818 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:76280818C>T uc001dhd.2 + 4 927 c.812C>T c.(811-813)tCc>tTc p.S271F NM_002440 NP_002431 O15457 MSH4_HUMAN Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA. 271 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 GAGGTTCAGTCCAAGTAAGtt 0.313000 Mismatch excision repair (MMR) 35 23 0 0 1 0 0 KRT77 374454 broad.mit.edu 37 12 53089622 53089622 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:53089622C>T uc001saw.3 - 3 878 c.849G>A c.(847-849)gtG>gtA p.V283V KRT77_uc009zmi.3_Silent_p.V41V NM_175078 NP_778253 Q7Z794 K2C1B_HUMAN Homo sapiens keratin 77 (KRT77), mRNA. 283 Coil 1B.|Rod. keratin filament structural molecule activity NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 ACTCCAGGTCCACTTTGCTCA 0.468000 32 10 0 0 1 0 0 TCRB 0 broad.mit.edu 37 7 142120318 142120318 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:142120318C>T uc022anf.1 - 0 33 c.4G>A c.(4-6)Ggt>Agt p.G2S TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Missense_Mutation_p.G2S SubName: Full=V_segment translation product; Flags: Fragment; AGACTGGTACCCATGACAGTG 0.512000 133 47 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21178651 21178651 + Missense_Mutation SNP G C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:21178651G>C uc002zsz.4 - 3 506 c.245C>G c.(244-246)tCt>tGt p.S82C PI4KA_uc010gsq.2_Missense_Mutation_p.S168C NM_058004 NP_477352 P42356 PI4KA_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA. 82 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) GGCCACATCAGACAGCAGAGT 0.443000 123 4 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177073070 177073070 + Missense_Mutation SNP A T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:177073070A>T uc003iuj.3 + 17 2787 c.2484A>T c.(2482-2484)agA>agT p.R828S WDR17_uc003ium.4_Missense_Mutation_p.R804S|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Missense_Mutation_p.R47S NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA. 828 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TCCACTTGAGATTAGGACAAA 0.373000 33 26 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61542785 61542785 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:61542785G>A uc002ydr.2 - 2 492 c.180C>T c.(178-180)tcC>tcT p.S60S DIDO1_uc002yds.2_Silent_p.S60S|DIDO1_uc002ydt.2_Silent_p.S60S|DIDO1_uc002ydu.2_Silent_p.S60S|DIDO1_uc002ydv.2_Silent_p.S60S|DIDO1_uc002ydw.2_Silent_p.S60S|DIDO1_uc002ydx.2_Silent_p.S60S|DIDO1_uc011aao.1_Silent_p.S60S NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 60 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TGCGCCGCAGGGACAGGCCCA 0.701000 13 9 0 0 1 0 0 PLAC1L 219990 broad.mit.edu 37 11 59812156 59812156 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:59812156G>A uc001nol.3 + 2 441 c.256G>A c.(256-258)Gaa>Aaa p.E86K NM_173801 NP_776162 Q86WS3 PLACL_HUMAN Homo sapiens placenta-specific 1-like (PLAC1L), mRNA. 86 extracellular region breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1) 15 AGTTTCTGAGGAAACTCTCCT 0.403000 28 16 0 0 1 0 0 PSMD9 5715 broad.mit.edu 37 12 122340959 122340959 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:122340959C>T uc001ubl.3 + 3 618 c.501C>T c.(499-501)acC>acT p.T167T PSMD9_uc009zxj.3_Non-coding_Transcript NM_002813 NP_002804 O00233 PSMD9_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 (PSMD9), mRNA. 167 PDZ. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction nucleus|proteasome regulatory particle bHLH transcription factor binding|transcription coactivator activity endometrium(1)|large_intestine(1)|lung(1) 3 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231) CTGTGAACACCCAGAACTTCC 0.517000 30 15 0 0 1 0 0 TTC7B 145567 broad.mit.edu 37 14 91146847 91146847 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:91146847G>A uc001xyp.3 - 7 1105 c.983C>T c.(982-984)gCc>gTc p.A328V TTC7B_uc010ats.3_Non-coding_Transcript NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA. 328 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) TAACAACAGGGCTTCTTCCGT 0.368000 17 12 0 0 1 0 0 BDKRB2 624 broad.mit.edu 37 14 96707272 96707272 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:96707272G>A uc010avm.1 + 2 803 c.607G>A c.(607-609)Gat>Aat p.D203N BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.D176N|BDKRB2_uc001yfg.2_Missense_Mutation_p.D203N NM_000623 NP_000614 P30411 BKRB2_HUMAN Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA. 203 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) GGAGTACAGCGATGAGGGCCA 0.592000 50 12 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55221954 55221954 + RNA SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:55221954G>A uc002qgs.1 + 0 c.2354G>A LILRP2_uc002qgt.1_Non-coding_Transcript Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. AGGAGAGAACGTGACCCTGCT 0.632000 49 12 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57649922 57649922 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:57649922C>T uc002qnz.1 - 2 446 c.60G>A c.(58-60)ggG>ggA p.G20G NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA. 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GCTGCCACTCCCCCTGGGTGA 0.517000 63 15 0 0 1 0 0 HR 55806 broad.mit.edu 37 8 21973894 21973894 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:21973894G>A uc003xas.3 - 17 4091 c.3426C>T c.(3424-3426)tcC>tcT p.S1142S HR_uc003xat.3_Silent_p.S1087S NM_005144 NP_005135 O43593 HAIR_HUMAN Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA. 1142 JmjC. DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) AGGTCTCAGGGGAGAGGAAGT 0.622000 13 10 0 0 1 0 0 GXYLT1 283464 broad.mit.edu 37 12 42491381 42491381 + Nonsense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:42491381G>A uc001rms.4 - 6 1249 c.1024C>T c.(1024-1026)Cga>Tga p.R342* GXYLT1_uc001rmt.4_Nonsense_Mutation_p.R311* NM_173601 NP_775872 Q4G148 GXLT1_HUMAN Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA. 342 O-glycan processing integral to membrane UDP-xylosyltransferase activity p.R342L(1) kidney(2)|large_intestine(4)|liver(3)|lung(8) 17 TGATCTGGTCGATAATTCCAT 0.368000 69 13 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42446602 42446602 + Nonsense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:42446602C>T uc003gwr.2 - 31 3240 c.3008G>A c.(3007-3009)tGg>tAg p.W1003* ATP8A1_uc003gwq.2_Nonsense_Mutation_p.W229*|ATP8A1_uc003gws.2_Nonsense_Mutation_p.W988* NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA. 1003 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity p.W1003*(1) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TACCCATGTCCAATATGATGT 0.358000 12 6 0 0 1 0 0 RCL1 10171 broad.mit.edu 37 9 4834165 4834165 + Missense_Mutation SNP G A A rs148074533 byFrequency TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:4834165G>A uc003zis.2 + 4 742 c.484G>A c.(484-486)Gga>Aga p.G162R NM_005772 NP_005763 Q9Y2P8 RCL1_HUMAN Homo sapiens RNA terminal phosphate cyclase-like 1 (RCL1), mRNA. 162 RNA processing|ribosome biogenesis nucleolus RNA-3'-phosphate cyclase activity breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) AATGCCTCCCGGAGGAGGAGG 0.512000 31 6 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28662223 28662223 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:28662223C>T uc002kwl.4 - 8 1698 c.1244G>A c.(1243-1245)gGa>gAa p.G415E DSC2_uc002kwk.4_Missense_Mutation_p.G415E NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 415 Cadherin 3. 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) ACAAAGAACTCCTTCATTGGT 0.294000 34 9 0 0 1 0 0 SLC12A8 84561 broad.mit.edu 37 3 124802773 124802773 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:124802773G>A uc003ehw.4 - 13 2263 c.2193C>T c.(2191-2193)tcC>tcT p.S731S SLC12A8_uc003ehv.4_Silent_p.S702S|SLC12A8_uc003eht.4_Silent_p.S503S|SLC12A8_uc010hry.3_3'UTR NM_024628 NP_078904 A0AV02 S12A8_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA. 702 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 TCACGAGGGAGGAGTGGTGGT 0.572000 18 6 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156643314 156643314 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:156643314G>A uc003iov.3 + 9 2377 c.1841G>A c.(1840-1842)cGa>cAa p.R614Q GUCY1A3_uc010iqc.2_Missense_Mutation_p.R614Q|GUCY1A3_uc010iqd.3_Missense_Mutation_p.R613Q|GUCY1A3_uc003iow.3_Missense_Mutation_p.R614Q|GUCY1A3_uc003iox.3_Missense_Mutation_p.R614Q|GUCY1A3_uc010iqe.3_Missense_Mutation_p.R379Q|GUCY1A3_uc003ioy.3_Missense_Mutation_p.R614Q|GUCY1A3_uc003ioz.3_Missense_Mutation_p.R379Q|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.R614Q NM_000856 NP_001124157 Q02108 GCYA3_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA. 614 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) AGTGTACCACGAAAAATCAAT 0.378000 69 18 0 0 1 0 0 SYT4 6860 broad.mit.edu 37 18 40853555 40853555 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:40853555C>T uc002law.3 - 1 1208 c.839G>A c.(838-840)aGa>aAa p.R280K SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Missense_Mutation_p.R262K NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN Homo sapiens synaptotagmin IV (SYT4), mRNA. 280 Phospholipid binding (Probable). cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 CCTAACATTTCTCTTGATGAT 0.289000 13 6 0 0 1 0 0 CFL1 1072 broad.mit.edu 37 11 65623154 65623154 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:65623154G>A uc001ofs.3 - 2 890 c.359C>T c.(358-360)tCc>tTc p.S120F CFL1_uc001oft.3_Missense_Mutation_p.S120F NM_005507 NP_005498 P23528 COF1_HUMAN Homo sapiens cofilin 1 (non-muscle) (CFL1), mRNA. 120 ADF-H. Rho protein signal transduction|actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 READ - Rectum adenocarcinoma(159;0.169) GGCGTCCTTGGAGCTGGCATA 0.582000 11 9 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128495294 128495294 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:128495294C>T uc003vnz.4 + 42 7386 c.7177C>T c.(7177-7179)Cca>Tca p.P2393S FLNC_uc003voa.4_Missense_Mutation_p.P2360S NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 2393 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 TGAGCACATCCCAGACAGCCC 0.617000 93 82 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99697345 99697345 + Missense_Mutation SNP A G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:99697345A>G uc003usw.1 - 2 653 c.143T>C c.(142-144)cTg>cCg p.L48P MCM7_uc003usv.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.4_5'Flank|AP4M1_uc003utd.3_5'Flank|AP4M1_uc011kjh.2_5'Flank|AP4M1_uc003ute.4_5'Flank|AP4M1_uc003utf.4_5'Flank NM_005916 NP_005907 P33993 MCM7_HUMAN Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA. 48 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus MCM complex|chromatin ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) GTCCACATACAGAGCCACCTG 0.537000 102 34 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891500 18891500 + Nonsense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:18891500C>T uc001rdy.3 + 0 456 c.298C>T c.(298-300)Cag>Tag p.Q100* PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA. 100 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) GCTTCAAAATCAGCTGAAAGA 0.398000 36 21 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11420926 11420926 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:11420926C>T uc001qzs.3 - 2 295 c.257G>A c.(256-258)gGa>gAa p.G86E PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA. 86 10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich. extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGACTGGTTTCCTCCTTGTGG 0.627000 298 143 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160901443 160901443 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:160901443G>A uc002ube.2 - 1 547 c.335C>T c.(334-336)tCc>tTc p.S112F PLA2R1_uc010zcp.2_Missense_Mutation_p.S112F|PLA2R1_uc002ubf.3_Missense_Mutation_p.S112F NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 112 Ricin B-type lectin. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CCACCGTAAGGAAACGAGGGT 0.532000 57 7 0 0 1 0 0 RBM15B 29890 broad.mit.edu 37 3 51431476 51431476 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:51431476G>A uc003dbd.3 + 0 2778 c.2646G>A c.(2644-2646)gtG>gtA p.V882V NM_013286 NP_037418 Q8NDT2 RB15B_HUMAN Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA. 882 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) AACACATGGTGATAGTCATCG 0.498000 59 11 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28966657 28966657 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:28966657G>A uc002kwr.2 + 2 226 c.91G>A c.(91-93)Gaa>Aaa p.E31K DSG4_uc002kwq.2_Missense_Mutation_p.E31K NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 31 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TAAGGTGAAGGAATTTGACAT 0.383000 61 7 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27668295 27668295 + Nonsense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:27668295G>A uc002rku.3 - 45 4987 c.4936C>T c.(4936-4938)Cga>Tga p.R1646* KRTCAP3_uc021vfd.1_Intron|IFT172_uc010ezb.3_Non-coding_Transcript NM_015662 NP_056477 Q9UG01 IF172_HUMAN Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA. 1646 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) ACCCAGTCTCGAACCTCTTCT 0.617000 16 3 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84290301 84290301 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:84290301C>T uc021zcf.1 - 22 2197 c.2167G>A c.(2167-2169)Gat>Aat p.D723N SNAP91_uc011dzd.2_Missense_Mutation_p.D221N|SNAP91_uc003pka.3_Missense_Mutation_p.D721N|SNAP91_uc011dze.2_Missense_Mutation_p.D721N|SNAP91_uc003pkc.3_Missense_Mutation_p.D693N|SNAP91_uc003pkd.3_Missense_Mutation_p.D416N|SNAP91_uc003pkb.3_Missense_Mutation_p.D632N NM_014841 NP_055656 O60641 AP180_HUMAN Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA. 723 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) ATCAAAAGATCACCTAGACCA 0.428000 32 17 0 0 1 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150439539 150439540 + Silent DNP CC TT TT TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:150439539_150439540CC>TT uc022apw.1 + 5 1064_1065 c.924_925CC>TT c.(922-927)tacctg>taTTtg p.308_309YL>YL GIMAP1-GIMAP5_uc003whr.2_Silent_p.104_105YL>YL NM_001199577 NP_001186506 Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA. GGGACTGCTACCTGCTCTCTGC 0.579000 70 58 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20792848 20792848 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:20792848G>A uc001reh.2 + 9 2248 c.2208G>A c.(2206-2208)atG>atA p.M736I PDE3A_uc021qwa.1_Missense_Mutation_p.M414I NM_000921 NP_000912 Q14432 PDE3A_HUMAN Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA. 736 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GGGAATTTATGAATTATTTTC 0.313000 18 10 0 0 1 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133661546 133661546 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:133661546G>A uc003eqa.4 - 10 1802 c.1528C>T c.(1528-1530)Ccc>Tcc p.P510S SLCO2A1_uc011blv.2_Missense_Mutation_p.P329S NM_005630 NP_005621 Q92959 SO2A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA. 510 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 TGGGCACAGGGGACAGGGCAC 0.562000 46 26 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113599321 113599321 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:113599321G>A uc003ynu.3 - 22 4018 c.3859C>T c.(3859-3861)Cat>Tat p.H1287Y CSMD3_uc003yns.3_Missense_Mutation_p.H559Y|CSMD3_uc003ynt.3_Missense_Mutation_p.H1247Y|CSMD3_uc011lhx.2_Missense_Mutation_p.H1183Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1287 CUB 7. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGTGCTAAATGAAATGTTCTG 0.313000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 39 19 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122643372 122643372 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:122643372C>T uc021pzt.1 + 13 2066 c.1820C>T c.(1819-1821)tCc>tTc p.S607F WDR11_uc010qte.2_Missense_Mutation_p.S209F|WDR11_uc001lfd.1_Missense_Mutation_p.S125F NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN Homo sapiens WD repeat domain 11 (WDR11), mRNA. 607 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 AGAGAGATGTCCAAAAACTTC 0.338000 22 4 0 0 1 0 0 MNX1 3110 broad.mit.edu 37 7 156802446 156802446 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:156802446G>A uc003wnd.1 - 0 902 c.599C>T c.(598-600)cCc>cTc p.P200L MNX1_uc003wmz.3_5'Flank|MNX1_uc003wna.3_Missense_Mutation_p.P200L|MNX1_uc003wnc.1_5'Flank|MNX1_uc022aqk.1_5'Flank|MNX1_uc010lqr.1_5'Flank|LOC645249_uc003wne.2_5'Flank NM_005515 NP_005506 P50219 MNX1_HUMAN Homo sapiens motor neuron and pancreas homeobox 1 (MNX1), transcript variant 1, mRNA. 200 humoral immune response|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(4)|skin(1) 7 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAGCTTGATGGGGTCGGCGGG 0.726000 17 21 0 0 1 0 0 CYP11B2 1585 broad.mit.edu 37 8 143994858 143994858 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:143994858G>A uc003yxk.1 - 5 967 c.964C>T c.(964-966)Ccc>Tcc p.P322S NM_000498 NP_000489 P19099 C11B2_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA. 322 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity p.P322T(2) cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) ATCAGCAAGGGAAACGCTGTC 0.632000 Familial Hyperaldosteronism type I 97 19 0 0 1 0 0 PANK2 80025 broad.mit.edu 37 20 3891386 3891386 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:3891386C>T uc002wkc.3 + 2 1150 c.1144C>T c.(1144-1146)Ccg>Tcg p.P382S PANK2_uc002wkb.3_Missense_Mutation_p.P91S|PANK2_uc010gbd.1_Non-coding_Transcript|PANK2_uc002wkd.3_Non-coding_Transcript|PANK2_uc002wke.3_Missense_Mutation_p.P91S|PANK2_uc002wkf.3_5'UTR NM_153638 NP_705902 Q9BZ23 PANK2_HUMAN Homo sapiens pantothenate kinase 2 (PANK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 382 cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding p.P382L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TTTGAAAAATCCGTATCCTCT 0.408000 45 28 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37157832 37157832 + Silent SNP A G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:37157832A>G uc011cpa.1 - 39 8128 c.7897T>C c.(7897-7899)Tta>Cta p.L2633L C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Silent_p.L1151L|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.L1726L NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 2633 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ATATAATGTAACTCTGCAGAC 0.338000 35 5 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100686190 100686190 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:100686190G>A uc003uxp.1 + 2 11546 c.11493G>A c.(11491-11493)gaG>gaA p.E3831E MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3831 Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTCCTTCTGAGGCCAGCACAC 0.483000 58 19 0 0 1 0 0 KCNQ1 3784 broad.mit.edu 37 11 2594141 2594141 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:2594141G>A uc001lwn.3 + 5 954 c.846G>A c.(844-846)ctG>ctA p.L282L KCNQ1_uc009ydp.1_Silent_p.L66L|KCNQ1_uc001lwo.3_Silent_p.L155L NM_000218 NP_000209 P51787 KCNQ1_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA. 282 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) TTGTGTACCTGGCTGAGAAGG 0.587000 24 18 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38768436 38768436 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:38768436C>T uc003ciq.3 - 15 2748 c.2748G>A c.(2746-2748)cgG>cgA p.R916R NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 916 R -> W (found in a renal cell carcinoma sample; somatic mutation). sensory perception voltage-gated sodium channel complex p.R916W(2) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AGACCTGGATCCGTGCCAGGG 0.587000 89 51 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140386854 140386855 + Missense_Mutation DNP AC TT TT TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:140386854_140386855AC>TT uc003vvy.1 + 4 1548_1549 c.1370_1371AC>TT c.(1369-1371)aac>aTT p.N457I ADCK2_uc003vvz.3_Missense_Mutation_p.N457I NM_052853 NP_443085 Q7Z695 ADCK2_HUMAN Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA. 457 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) CAGGGTGCCAACGGCCTGTCCT 0.579000 42 39 0 0 1 0 0 TTC39C 125488 broad.mit.edu 37 18 21698135 21698135 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:21698135C>T uc002kuw.3 + 7 1577 c.1125C>T c.(1123-1125)tcC>tcT p.S375S TTC39C_uc002kuu.3_Silent_p.S314S NM_001135993 NP_694943 Q8N584 TT39C_HUMAN Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA. 375 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 CATTTGATTCCTTTGAGAGGC 0.458000 57 16 0 0 1 0 0 SERPINB6 5269 broad.mit.edu 37 6 2948536 2948537 + Missense_Mutation DNP GG AA AA TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:2948536_2948537GG>AA uc003muk.3 - 5 3121_3122 c.1126_1127CC>TT c.(1126-1128)ccg>TTg p.P376L SERPINB6_uc003mui.3_Missense_Mutation_p.P259L|SERPINB6_uc003muj.3_Non-coding_Transcript|SERPINB6_uc003mul.3_Missense_Mutation_p.P376L|SERPINB6_uc003mum.3_Missense_Mutation_p.P376L|SERPINB6_uc003mun.3_Missense_Mutation_p.P376L|SERPINB6_uc003muo.3_Missense_Mutation_p.P376L NM_004568 NP_004559 P35237 SPB6_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 6 (SERPINB6), transcript variant 1, mRNA. 376 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) CTGTCCTCACGGAGAGGAAAAG 0.599000 48 35 0 0 1 0 0 MID2 11043 broad.mit.edu 37 X 107169997 107169997 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chrX:107169997C>T uc004enl.3 + 9 2475 c.1902C>T c.(1900-1902)ttC>ttT p.F634F MID2_uc004enk.3_Silent_p.F604F NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN Homo sapiens midline 2 (MID2), transcript variant 1, mRNA. 634 B30.2/SPRY. centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 ATAGTAACTTCGTGGTGAGAC 0.473000 35 18 0 0 1 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51955867 51955867 + Nonsense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:51955867C>T uc002pwt.3 - 6 1333 c.1266G>A c.(1264-1266)tgG>tgA p.W422* SIGLEC8_uc010yda.2_Nonsense_Mutation_p.W313*|SIGLEC8_uc002pwu.3_Intron|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.W329* NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA. 422 cell adhesion integral to membrane sugar binding|transmembrane receptor activity p.W422C(2) NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGCCATCTTTCCAGGATTCAG 0.587000 31 14 0 0 1 0 0 C6orf118 168090 broad.mit.edu 37 6 165715388 165715388 + Silent SNP A G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:165715388A>G uc003qum.4 - 1 459 c.423T>C c.(421-423)acT>acC p.T141T C6orf118_uc011egi.1_Non-coding_Transcript NM_144980 NP_659417 Q5T5N4 CF118_HUMAN Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA. 141 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CCTCCTCTGAAGTGTGGGAAA 0.632000 65 42 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140201380 140201380 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:140201380G>A uc003lhl.2 + 0 20 c.20G>A c.(19-21)gGa>gAa p.G7E 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_uc003lhk.1_Missense_Mutation_p.G7E|PCDHAC2_uc003lhj.1_Missense_Mutation_p.G7E NM_018908 NP_061731 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA. 0 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCGGAGAGGAAGTCTGGGA 0.483000 34 12 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20868116 20868116 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:20868116C>T uc010sii.2 + 6 928 c.573C>T c.(571-573)ttC>ttT p.F191F SLCO1C1_uc010sij.2_Intron|SLCO1C1_uc009zip.3_Silent_p.F25F|SLCO1C1_uc001rei.3_Silent_p.F191F|SLCO1C1_uc010sik.2_Silent_p.F73F NM_001145946 NP_001139416 Q9NYB5 SO1C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA. 191 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) TTTATGTTTTCCTGGGCAATC 0.398000 125 4 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21234887 21234887 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:21234887G>A uc002red.3 - 25 4981 c.4853C>T c.(4852-4854)tCa>tTa p.S1618L NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1618 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) GGAATTTAGTGATCCAGAAAG 0.428000 22 14 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228479769 228479769 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:228479769G>A uc009xez.1 + 38 10554 c.10510G>A c.(10510-10512)Gag>Aag p.E3504K OBSCN_uc001hsn.3_Missense_Mutation_p.E3504K|OBSCN_uc001hsq.1_Missense_Mutation_p.E760K NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 3504 Ig-like 35. 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) GACCAGGTGTGAGCTGCAGAT 0.622000 78 32 0 0 1 0 0 VNN1 8876 broad.mit.edu 37 6 133014436 133014436 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:133014436C>T uc003qdo.3 - 3 573 c.553G>A c.(553-555)Gaa>Aaa p.E185K NM_004666 NP_004657 O95497 VNN1_HUMAN Homo sapiens vanin 1 (VNN1), mRNA. 185 CN hydrolase. acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) AATTGATTTTCACCCATGAAA 0.358000 19 11 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382676 22382676 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:22382676C>T uc001yuc.1 + 6 1185 c.204C>T c.(202-204)ttC>ttT p.F68F abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.F68F NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ACTTGGCCTTCCTGGATGCAT 0.483000 251 54 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063268 9063268 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:9063268C>T uc002mkp.3 - 2 24382 c.24178G>A c.(24178-24180)Gat>Aat p.D8060N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8062 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 GTCCCCACATCGGTCACTGTT 0.463000 59 27 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46815496 46815496 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:46815496C>T uc002peh.3 + 6 880 c.849C>T c.(847-849)tcC>tcT p.S283S HIF3A_uc002pef.2_Silent_p.S283S|HIF3A_uc002peg.4_Silent_p.S283S|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Silent_p.S227S|HIF3A_uc002pej.2_Silent_p.S214S|HIF3A_uc010xxy.2_Silent_p.S214S|HIF3A_uc002pel.3_Silent_p.S281S|HIF3A_uc010xxz.2_Silent_p.S232S NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA. 283 PAS 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity p.A283T(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CGCTGGACTCCGATGCGGTCA 0.627000 77 44 0 0 1 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117582 117582 + RNA SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chrGL000205.1:117582C>T uc002kgk.4 + 0 c.960C>T Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. AAGAGACAGCCGACTCCACCA 0.612000 33 6 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51192500 51192500 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:51192500C>T uc002psx.1 - 14 2020 c.2001G>A c.(1999-2001)caG>caA p.Q667Q SHANK1_uc002psw.1_Silent_p.Q51Q NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA. 667 PDZ. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TGTCCTTCTTCTGCAGCAAGA 0.597000 107 37 0 0 1 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88888279 88888279 + Splice_Site SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:88888279G>A uc002stc.4 - 7 1608 c.1306_splice c.e7+1 p.H436_splice NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA. 436 ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 ATTCACTTACGAATTAAGGGT 0.348000 41 23 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38451522 38451522 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:38451522C>T uc003jlc.2 + 19 3019 c.2673C>T c.(2671-2673)ttC>ttT p.F891F EGFLAM_uc003jlb.2_Silent_p.F883F|EGFLAM_uc003jle.2_Silent_p.F649F|EGFLAM_uc003jlf.2_Silent_p.F249F|EGFLAM_uc003jlg.2_Silent_p.F26F NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 891 Laminin G-like 3. 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) ACAGCGACTTCATTTCCTTGG 0.512000 85 5 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123255694 123255694 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:123255694C>T uc003ieh.3 + 66 11887 c.11842C>T c.(11842-11844)Cct>Tct p.P3948S KIAA1109_uc003iem.3_Intron NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 3948 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 CCCACCTATTCCTGCAGGTAT 0.383000 46 37 0 0 1 0 0 OR10G4 390264 broad.mit.edu 37 11 123886755 123886755 + Missense_Mutation SNP G C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:123886755G>C uc010sac.2 + 0 474 c.474G>C c.(472-474)caG>caC p.Q158H NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA. 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CTGCTGTCCAGACCATATTGA 0.572000 109 23 0 0 1 0 0 ELSPBP1 64100 broad.mit.edu 37 19 48523033 48523033 + Missense_Mutation SNP A T T rs144418346 TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:48523033A>T uc002pht.3 + 4 591 c.413A>T c.(412-414)aAt>aTt p.N138I NM_022142 NP_071425 Q96BH3 ESPB1_HUMAN Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA. 138 Fibronectin type-II 3. single fertilization extracellular region NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6) 10 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) TACAGAAATAATGTGGTCTCT 0.473000 31 16 0 0 1 0 0 MEST 4232 broad.mit.edu 37 7 130135278 130135278 + Silent SNP A G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:130135278A>G uc003vqg.3 + 1 352 c.96A>G c.(94-96)ccA>ccG p.P32P MEST_uc003vqc.3_Silent_p.P23P|MEST_uc003vqd.3_Silent_p.P23P|MEST_uc022alp.1_Silent_p.P23P|MEST_uc003vqf.3_Silent_p.P23P|MEST_uc011kph.2_Silent_p.P32P|MIR335_uc011kpi.2_5'Flank NM_002402 NP_002393 Q5EB52 MEST_HUMAN Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA. 32 mesoderm development endoplasmic reticulum membrane|integral to membrane hydrolase activity|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2) 12 Melanoma(18;0.0435) TGCACATCCCACCCCCTCAGC 0.557000 55 24 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4725386 4725386 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:4725386C>T uc003bqc.3 + 26 3707 c.3357C>T c.(3355-3357)tcC>tcT p.S1119S ITPR1_uc021wsi.1_Silent_p.S1125S|ITPR1_uc021wsj.1_Silent_p.S1110S|ITPR1_uc011asu.2_Intron NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 1134 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AACTGAGGTCCATCGTGGAAA 0.468000 89 19 0 0 1 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130460862 130460862 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:130460862C>T uc003qbt.3 + 22 2483 c.2307C>T c.(2305-2307)ttC>ttT p.F769F L3MBTL3_uc003qbu.3_Silent_p.F744F NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA. 769 SAM. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) TCCTGATGTTCAAAGCTGCAG 0.353000 23 3 0 0 1 0 0 AKAP17A 8227 broad.mit.edu 37 X 1718140 1718140 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chrX:1718140C>T uc004cqa.3 + 3 1163 c.967C>T c.(967-969)Cgc>Tgc p.R323C AKAP17A_uc010ncx.1_Missense_Mutation_p.R323C|AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_Intron NM_005088 NP_005079 Q02040 AK17A_HUMAN Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA. 323 B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction nuclear speck|spliceosomal complex RNA binding|nucleotide binding|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 AGAGAAGCTTCGCAAGAGGGA 0.582000 28 18 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218712777 218712777 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:218712777G>A uc002vgt.2 - 16 2486 c.2088C>T c.(2086-2088)ttC>ttT p.F696F TNS1_uc002vgr.2_Silent_p.F696F|TNS1_uc002vgs.2_Silent_p.F696F|TNS1_uc010zjv.1_Silent_p.F696F|TNS1_uc010fvj.1_Silent_p.F764F|TNS1_uc010fvk.1_Silent_p.F821F|TNS1_uc010fvi.1_Silent_p.F383F NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN Homo sapiens tensin 1 (TNS1), mRNA. 696 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CTGCTCGCGGGAACTCAGGGA 0.607000 45 16 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5076244 5076244 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:5076244G>A uc002gau.1 + 37 6422 c.4192G>A c.(4192-4194)Gat>Aat p.D1398N USP6_uc002gav.1_Missense_Mutation_p.D1398N|USP6_uc010ckz.1_Missense_Mutation_p.D1081N NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 1398 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CTCTGAGTCTGATTACGAAAA 0.453000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 28 8 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62038034 62038034 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:62038034G>A uc002yey.1 - 16 2759 c.2582C>T c.(2581-2583)cCc>cTc p.P861L KCNQ2_uc002yez.1_Missense_Mutation_p.P830L|KCNQ2_uc002yfa.1_Missense_Mutation_p.P843L|KCNQ2_uc002yfb.1_Missense_Mutation_p.P833L NM_172107 NP_742105 O43526 KCNQ2_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA. 861 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GTCACCAAAGGGACCCTCGCC 0.711000 12 4 0 0 1 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092751 151092751 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chrX:151092751C>T uc022cgv.1 + 0 615 c.615C>T c.(613-615)atC>atT p.I205I MAGEA4_uc004fez.3_Silent_p.I205I|MAGEA4_uc004ffa.3_Silent_p.I205I|MAGEA4_uc004ffb.3_Silent_p.I205I|MAGEA4_uc022cgu.1_Silent_p.I233I|MAGEA4_uc004ffc.3_Silent_p.I205I|MAGEA4_uc004ffd.3_Silent_p.I205I NM_002362 NP_002353 P43358 MAGA4_HUMAN Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA. 205 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) TTCTGATAATCGTCCTGGGCA 0.562000 30 66 0 0 1 0 0 ADH1C 126 broad.mit.edu 37 4 100266210 100266210 + RNA SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:100266210C>T uc021xqi.1 - 4 c.461G>A NM_000669 P00326 ADH1G_HUMAN Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA. ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) CTGGTGCCATCCTGCAGGGTC 0.552000 37 19 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57233610 57233610 + Splice_Site SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:57233610G>A uc001cym.4 - 5 1360 c.954_splice c.e5-1 p.R318_splice C1orf168_uc009vzu.1_Splice_Site NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 318 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GCATTGAAAAGCCTGGAGAAA 0.318000 36 4 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3224759 3224759 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:3224759C>T uc022aqr.1 - 19 3300 c.2910G>A c.(2908-2910)atG>atA p.M970I CSMD1_uc011kwj.2_Missense_Mutation_p.M363I|CSMD1_uc003wqe.3_Missense_Mutation_p.M127I NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 971 CUB 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGTGAAAGATCATTTGAACTC 0.557000 10 5 0 0 1 0 0 NMD3 51068 broad.mit.edu 37 3 160968655 160968655 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:160968655C>T uc003feb.1 + 15 1588 c.1469C>T c.(1468-1470)tCc>tTc p.S490F NMD3_uc003fec.3_Missense_Mutation_p.S490F|NMD3_uc003fed.1_Missense_Mutation_p.S490F NM_015938 NP_057022 Q96D46 NMD3_HUMAN Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA. 490 Necessary for the nuclear export of the 60S ribosomal subunit. protein transport cytoplasm|nucleolus|nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) CTTCATATTTCCCAAGATGCC 0.428000 53 14 0 0 1 0 0 BMPR2 659 broad.mit.edu 37 2 203420956 203420956 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:203420956C>T uc002uzf.4 + 11 3716 c.2568C>T c.(2566-2568)acC>acT p.T856T BMPR2_uc010ftr.3_Intron NM_001204 NP_001195 Q13873 BMPR2_HUMAN Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA. 856 BMP signaling pathway|anterior/posterior pattern formation|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 GTGAGGACACCCGGCTGAATA 0.468000 98 20 0 0 1 0 0 SUCLG2 8801 broad.mit.edu 37 3 67451240 67451240 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:67451240G>A uc021xae.1 - 9 1126 c.1098C>T c.(1096-1098)atC>atT p.I366I SUCLG2_uc010hob.3_Silent_p.I113I|SUCLG2_uc003dna.4_Silent_p.I366I NM_001177599 NP_001171070 Q96I99 SUCB2_HUMAN Homo sapiens succinate-CoA ligase, GDP-forming, beta subunit (SUCLG2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 366 succinyl-CoA metabolic process|tricarboxylic acid cycle mitochondrial matrix ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 10 Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121) BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153) Succinic acid(DB00139) CACAGTTGACGATACCACCAA 0.453000 34 15 0 0 1 0 0 GPAT2 150763 broad.mit.edu 37 2 96697813 96697813 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:96697813G>A uc002svf.3 - 2 368 c.145C>T c.(145-147)Cgc>Tgc p.R49C GPAT2_uc002svg.3_5'UTR|GPAT2_uc010yuh.2_Missense_Mutation_p.R49C|GPAT2_uc002svh.3_Missense_Mutation_p.R49C NM_207328 NP_997211 Q6NUI2 GPAT2_HUMAN Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA. 49 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 TGGCAACAGCGACCCACAAAG 0.607000 25 6 0 0 1 0 0 FAM160B1 57700 broad.mit.edu 37 10 116605957 116605957 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:116605957C>T uc001lcb.3 + 9 1564 c.1229C>T c.(1228-1230)tCc>tTc p.S410F FAM160B1_uc001lcc.3_Missense_Mutation_p.S410F NM_020940 NP_065991 Q5W0V3 F16B1_HUMAN Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA. 410 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 ATTCTCACATCCACTGCTCTG 0.428000 110 18 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140262045 140262045 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:140262045C>T uc003lif.2 + 0 192 c.192C>T c.(190-192)ttC>ttT p.F64F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.F64F|PCDHAC2_uc003lid.3_Silent_p.F64F NM_018904 NP_061727 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA. 77 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCCTGTTCCGGGTGGCGT 0.612000 53 58 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155532400 155532400 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:155532400G>A uc003qqb.3 + 16 4400 c.3127G>A c.(3127-3129)Gat>Aat p.D1043N TIAM2_uc003qqe.3_Missense_Mutation_p.D1043N|TIAM2_uc010kjj.3_Missense_Mutation_p.D576N|TIAM2_uc003qqf.3_Missense_Mutation_p.D419N|TIAM2_uc011efl.1_Missense_Mutation_p.D379N|TIAM2_uc003qqg.3_Missense_Mutation_p.D355N NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA. 1043 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TGGCACTCTGGATCAGGTTTC 0.463000 34 20 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110866326 110866326 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr13:110866326C>T uc001vqw.4 - 2 303 c.181G>A c.(181-183)Ggg>Agg p.G61R NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 61 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) CCAGGAAACCCAATGACACCT 0.542000 94 49 0 0 1 0 0 GLP2R 9340 broad.mit.edu 37 17 9729454 9729455 + Missense_Mutation DNP CC TT TT TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:9729454_9729455CC>TT uc002gmd.1 + 0 74_75 c.74_75CC>TT c.(73-75)ccc>cTT p.P25L GLP2R_uc010cog.1_Non-coding_Transcript NM_004246 NP_004237 O95838 GLP2R_HUMAN Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA. 25 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) CACGAGCTGCCCATGGGCATCC 0.658000 11 12 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138657008 138657008 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:138657008C>T uc011mdq.2 + 11 1241 c.1167C>T c.(1165-1167)ttC>ttT p.F389F KCNT1_uc011mdr.2_Silent_p.F216F|KCNT1_uc010nbf.3_Silent_p.F344F|KCNT1_uc004cgo.1_Silent_p.F138F NM_020822 NP_065873 B7ZVY4 B7ZVY4_HUMAN Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA. 389 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TCATGGACTTCCTGAACGAGT 0.647000 85 18 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124377707 124377707 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:124377707G>A uc001lgk.1 + 37 4785 c.4679G>A c.(4678-4680)gGa>gAa p.G1560E DMBT1_uc001lgl.1_Missense_Mutation_p.G1550E|DMBT1_uc001lgm.1_Missense_Mutation_p.G932E|DMBT1_uc021qaf.1_Missense_Mutation_p.G1560E|DMBT1_uc021qag.1_Missense_Mutation_p.G1550E|DMBT1_uc021qah.1_Missense_Mutation_p.G932E|DMBT1_uc009xzz.1_Missense_Mutation_p.G1560E|DMBT1_uc010qtx.1_Missense_Mutation_p.G411E|DMBT1_uc009yab.1_Missense_Mutation_p.G263E|DMBT1_uc009yac.1_5'Flank NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1560 SRCR 12. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCAGCCCCAGGAAATGCCCAG 0.612000 222 42 0 0 1 0 0 CDC14C 168448 broad.mit.edu 37 7 48964913 48964913 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:48964913C>T uc010kyv.1 + 0 757 c.645C>T c.(643-645)ccC>ccT p.P215P Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA. AACATTCTCCCGAGACTTATA 0.383000 18 8 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241660412 241660412 + Missense_Mutation SNP G T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:241660412G>T uc010fzk.3 - 44 5034 c.4787C>A c.(4786-4788)tCc>tAc p.S1596Y KIF1A_uc002vzy.3_Missense_Mutation_p.S1495Y|KIF1A_uc002vzw.3_Missense_Mutation_p.S156Y|KIF1A_uc002vzx.3_Missense_Mutation_p.S222Y NM_001244008 NP_001230937 Q12756 KIF1A_HUMAN Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA. 1495 PH. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CCCTAGAGGGGACATCGACGG 0.647000 14 6 2.0095e-06 2.02578e-06 1 1 0 TET2 54790 broad.mit.edu 37 4 106155754 106155754 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:106155754G>A uc011cez.2 + 2 1123 c.718G>A c.(718-720)Gaa>Aaa p.E240K TET2_uc003hxk.3_Missense_Mutation_p.E219K|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.E219K|TET2_uc010ilp.2_Missense_Mutation_p.E219K|TET2_uc021xql.1_Missense_Mutation_p.E219K NM_001127208 NP_001120680 Q6N021 TET2_HUMAN Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA. 219 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 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) CTCTTCCGTGGAACACACACA 0.413000 """Mis N, F""" MDS 53 13 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46656046 46656046 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:46656046G>A uc003bhh.3 - 0 3174 c.3174C>T c.(3172-3174)ctC>ctT p.L1058L NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA. 1058 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GGGACACAGGGAGGCAGACTA 0.557000 14 8 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7620266 7620266 + Missense_Mutation SNP T A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:7620266T>A uc003bqm.2 + 7 1947 c.1673T>A c.(1672-1674)aTg>aAg p.M558K GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.M558K|GRM7_uc003bql.2_Missense_Mutation_p.M558K|GRM7_uc003bqn.1_Missense_Mutation_p.M141K|GRM7_uc010hch.1_Missense_Mutation_p.M69K NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 558 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TTTGATGAGATGACATGCCAG 0.512000 64 35 0 0 1 0 0 CASP7 840 broad.mit.edu 37 10 115480834 115480834 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:115480834C>T uc001lan.3 + 2 328 c.154C>T c.(154-156)Cgg>Tgg p.R52W CASP7_uc001lam.3_Missense_Mutation_p.R52W|CASP7_uc001lao.3_Missense_Mutation_p.R85W|CASP7_uc001lap.3_Missense_Mutation_p.R52W|CASP7_uc001laq.3_Missense_Mutation_p.R52W|CASP7_uc010qsa.2_Missense_Mutation_p.R137W|CASP7_uc010qsb.2_Missense_Mutation_p.R27W NM_033339 NP_203125 P55210 CASP7_HUMAN Homo sapiens caspase 7, apoptosis-related cysteine peptidase (CASP7), transcript variant gamma, mRNA. 52 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding p.E52G(1) kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) CAAGACCACCCGGGACCGAGT 0.418000 50 33 0 0 1 0 0 LEMD2 221496 broad.mit.edu 37 6 33744925 33744925 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:33744925C>T uc011drm.2 - 6 1261 c.1248G>A c.(1246-1248)aaG>aaA p.K416K LEMD2_uc010jvg.3_Silent_p.K125K|LEMD2_uc011drl.2_Silent_p.K114K NM_181336 NP_851853 Q8NC56 LEMD2_HUMAN Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA. 416 integral to nuclear inner membrane central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1) 9 CTATAATCTTCTTCACCATCT 0.527000 203 63 0 0 1 0 0 MAN2A2 4122 broad.mit.edu 37 15 91454696 91454697 + Missense_Mutation DNP CC TT TT TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:91454696_91454697CC>TT uc010bnz.2 + 13 2140_2141 c.2025_2026CC>TT c.(2023-2028)gtcctt>gtTTtt p.L676F MAN2A2_uc002bqc.3_Missense_Mutation_p.L676F|MAN2A2_uc010uql.2_Missense_Mutation_p.L338F|MAN2A2_uc010uqm.2_Missense_Mutation_p.L255F|MAN2A2_uc010uqn.1_5'Flank NM_006122 NP_006113 P49641 MA2A2_HUMAN Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA. 676 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GCGTGCGTGTCCTTTCGGAGGA 0.619000 68 37 0 0 1 0 0 KRTAP13-4 284827 broad.mit.edu 37 21 31802820 31802820 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr21:31802820C>T uc011acw.2 + 0 227 c.227C>T c.(226-228)cCc>cTc p.P76L NM_181600 NP_853631 Q3LI77 KR134_HUMAN Homo sapiens keratin associated protein 13-4 (KRTAP13-4), mRNA. 76 4 X 10 AA approximate repeats. intermediate filament NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 15 CTCTGCTGTCCCTGTCAGACG 0.597000 37 29 0 0 1 0 0 EGLN1 54583 broad.mit.edu 37 1 231509749 231509749 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:231509749G>A uc001huv.2 - 1 4144 c.988C>T c.(988-990)Ctt>Ttt p.L330F EGLN1_uc001huu.3_Missense_Mutation_p.L32F NM_022051 NP_071334 Q9GZT9 EGLN1_HUMAN Homo sapiens egl nine homolog 1 (C. elegans) (EGLN1), mRNA. 330 Fe2OG dioxygenase. negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia cytosol L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 16 Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244) Vitamin C(DB00126) TCTTTATTAAGATAATATATA 0.363000 25 8 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13885101 13885101 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:13885101G>A uc003jfd.2 - 18 3022 c.2980C>T c.(2980-2982)Cgg>Tgg p.R994W NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 994 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R994Q(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTATTACCCCGGAAGTTAATT 0.438000 Kartagener syndrome 52 26 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135430082 135430082 + Missense_Mutation SNP C A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chrX:135430082C>A uc004ezu.1 + 5 4508 c.4217C>A c.(4216-4218)tCt>tAt p.S1406Y GPR112_uc010nsb.1_Missense_Mutation_p.S1201Y|GPR112_uc010nsc.1_Missense_Mutation_p.S1173Y NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 1406 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GTGACTCACTCTGTCTCATAT 0.418000 12 45 1.03325e-14 1.05877e-14 1 1 0 AQP8 343 broad.mit.edu 37 16 25238413 25238413 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:25238413G>A uc002doc.3 + 4 709 c.627G>A c.(625-627)atG>atA p.M209I NM_001169 NP_001160 O94778 AQP8_HUMAN Homo sapiens aquaporin 8 (AQP8), mRNA. 209 cellular response to cAMP integral to plasma membrane water channel activity NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 16 GBM - Glioblastoma multiforme(48;0.044) GAGGCTGCATGAATCCCGCCC 0.612000 40 17 0 0 1 0 0 VPS39 23339 broad.mit.edu 37 15 42470756 42470756 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:42470756G>A uc001zpd.3 - 9 915 c.764C>T c.(763-765)cCc>cTc p.P255L VPS39_uc001zpc.3_Missense_Mutation_p.P244L NM_015289 NP_056104 Q96JC1 VPS39_HUMAN Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA. 255 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) AATGATGTAGGGAGGCTGGTG 0.458000 51 27 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113724787 113724787 + Nonsense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:113724787C>T uc003eax.3 - 9 1583 c.1436G>A c.(1435-1437)tGg>tAg p.W479* KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Nonsense_Mutation_p.W457*|KIAA1407_uc011bip.1_Nonsense_Mutation_p.W466* NM_020817 NP_065868 Q8NCU4 K1407_HUMAN Homo sapiens KIAA1407 (KIAA1407), mRNA. 479 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 AGGCTTTTCCCACAAAGGGGG 0.473000 70 15 0 0 1 0 0 OR12D3 81797 broad.mit.edu 37 6 29342985 29342985 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:29342985C>T uc003nme.3 - 0 84 c.80G>A c.(79-81)gGg>gAg p.G27E NM_030959 NP_112221 Q9UGF7 O12D3_HUMAN Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA. 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 TAAGAAAATCCCAAAGAAGAA 0.383000 25 12 0 0 1 0 0 HRASLS5 117245 broad.mit.edu 37 11 63256392 63256392 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:63256392G>A uc001nwy.2 - 2 500 c.326C>T c.(325-327)tCa>tTa p.S109L HRASLS5_uc001nwz.2_Missense_Mutation_p.S99L|HRASLS5_uc010rmq.1_Missense_Mutation_p.S109L|HRASLS5_uc009yos.2_Intron NM_054108 NP_473449 Q96KN8 HRSL5_HUMAN Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA. 109 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 CTTTGGAATTGAACTCCAGTC 0.408000 34 6 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186673448 186673448 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:186673448C>T uc002upl.3 + 16 19682 c.19682C>T c.(19681-19683)tCa>tTa p.S6561L FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 ACAATTAACTCAACAATTTCA 0.308000 18 19 0 0 1 0 0 SERHL2 253190 broad.mit.edu 37 22 42956231 42956231 + Silent SNP G T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:42956231G>T uc003bcr.3 + 7 675 c.573G>T c.(571-573)ggG>ggT p.G191G SERHL2_uc011apn.1_Silent_p.G177G|SERHL2_uc010gyz.3_Silent_p.G127G|SERHL2_uc010gyy.3_Non-coding_Transcript|SERHL2_uc011apo.2_Non-coding_Transcript|RRP7B_uc003bcs.3_Intron NM_014509 NP_055324 Q9H4I8 SEHL2_HUMAN Homo sapiens serine hydrolase-like 2 (SERHL2), mRNA. 191 perinuclear region of cytoplasm|peroxisome hydrolase activity breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1) 8 AGGAGTGCGGGGAGCTTCTCC 0.502000 446 13 7.93312e-07 8.01595e-07 1 1 0 PPIG 9360 broad.mit.edu 37 2 170493279 170493279 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:170493279C>T uc002uez.3 + 13 1731 c.1511C>T c.(1510-1512)tCt>tTt p.S504F PPIG_uc010fpx.3_Missense_Mutation_p.S489F|PPIG_uc010fpy.3_Missense_Mutation_p.S497F|PPIG_uc002ufb.3_Missense_Mutation_p.S504F|PPIG_uc002ufd.3_Missense_Mutation_p.S501F NM_004792 NP_004783 Q13427 PPIG_HUMAN Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA. 504 RNA splicing|protein folding nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) GAAAAGCAGTCTGATTCTAAA 0.323000 15 7 0 0 1 0 0 LPP 4026 broad.mit.edu 37 3 188242550 188242550 + Missense_Mutation SNP C A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:188242550C>A uc003frs.2 + 4 650 c.404C>A c.(403-405)tCc>tAc p.S135Y LPP_uc011bsg.2_Missense_Mutation_p.S135Y|LPP_uc011bsi.2_Missense_Mutation_p.S135Y|LPP_uc003frt.3_Missense_Mutation_p.S135Y NM_005578 NP_005569 Q93052 LPP_HUMAN Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA. 135 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) GAGTGCAGCTCCCCCTATAAG 0.547000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 90 14 1.5739e-10 1.60335e-10 1 1 0 RANBP3 8498 broad.mit.edu 37 19 5918540 5918540 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:5918540G>A uc002mdw.3 - 14 1667 c.1440C>T c.(1438-1440)acC>acT p.T480T RANBP3_uc002mdv.3_Silent_p.T199T|RANBP3_uc002mdx.3_Silent_p.T475T|RANBP3_uc002mdy.3_Silent_p.T412T|RANBP3_uc002mdz.3_Silent_p.T407T|RANBP3_uc010duq.3_Silent_p.T385T|RANBP3_uc010xix.2_Silent_p.T352T NM_007322 NP_015561 Q9H6Z4 RANB3_HUMAN Homo sapiens RAN binding protein 3 (RANBP3), transcript variant RANBP3-d, mRNA. 480 RanBD1. intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 18 CCTGGTCCTCGGTGTCCATGG 0.637000 31 15 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62038255 62038255 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:62038255G>A uc002yey.1 - 16 2538 c.2361C>T c.(2359-2361)tcC>tcT p.S787S KCNQ2_uc002yez.1_Silent_p.S756S|KCNQ2_uc002yfa.1_Silent_p.S769S|KCNQ2_uc002yfb.1_Silent_p.S759S NM_172107 NP_742105 O43526 KCNQ2_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA. 787 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GGATGGAGATGGACGTGTCGC 0.667000 9 7 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14823185 14823185 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:14823185G>A uc003zlm.3 - 13 3126 c.2310C>T c.(2308-2310)atC>atT p.I770I FREM1_uc010mic.3_Non-coding_Transcript NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 770 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CCACTGGGAGGATTGTAATGT 0.418000 46 12 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21728868 21728868 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:21728868G>A uc001rfb.3 - 2 682 c.427C>T c.(427-429)Cct>Tct p.P143S NM_021957 NP_068776 P54840 GYS2_HUMAN Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA. 143 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TCATGATAAGGAATGCCGACA 0.428000 72 37 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54913090 54913091 + Missense_Mutation DNP GG AA AA TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:54913090_54913091GG>AA uc001sgc.4 + 15 1678_1679 c.1599_1600GG>AA c.(1597-1602)gtggaa>gtAAaa p.E534K NCKAP1L_uc010sox.2_Missense_Mutation_p.E76K|NCKAP1L_uc010soy.2_Missense_Mutation_p.E484K NM_005337 NP_005328 P55160 NCKPL_HUMAN Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA. 534 B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug SCAR complex|cytosol|integral to plasma membrane|membrane fraction Rac GTPase activator activity|protein complex binding|protein kinase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 AATTGCTGGTGGAAACTTCTGA 0.426000 36 27 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17091330 17091330 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:17091330C>T uc002nfb.3 - 13 1735 c.1703G>A c.(1702-1704)cGt>cAt p.R568H NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 521 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GTGTGTTAAACGAATCGGTTT 0.587000 61 13 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137622106 137622106 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:137622106G>A uc004cfe.3 + 6 1331 c.949G>A c.(949-951)Gct>Act p.A317T NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 317 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCCCACGGAAGCTGCTCCCAT 0.642000 84 48 0 0 1 0 0 TUBA8 51807 broad.mit.edu 37 22 18604259 18604259 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:18604259C>T uc002znw.1 + 0 386 c.89C>T c.(88-90)tCa>tTa p.S30L TUBA8_uc002znv.2_Missense_Mutation_p.S6L|TUBA8_uc021wkt.1_5'UTR NM_001193414 NP_001180343 Q9NY65 TBA8_HUMAN Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA. 6 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 GAATGCATATCAGTCCACGTG 0.577000 105 5 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432549 104432549 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:104432549G>A uc004bbp.2 - 2 2746 c.2145C>T c.(2143-2145)tcC>tcT p.S715S GRIN3A_uc004bbq.1_Silent_p.S715S NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 715 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CTGAAGAAAAGGAGAAGACTT 0.448000 105 15 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31320648 31320648 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:31320648C>T uc021sia.1 - 23 3545 c.3231G>A c.(3229-3231)gaG>gaA p.E1077E TRPM1_uc010azy.3_Silent_p.E945E|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Silent_p.E1060E|TRPM1_uc001zfm.3_Silent_p.E1038E NM_001252020 NP_001238949 Q7Z4N2 TRPM1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA. 1038 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GCCGCTTGCCCTCCTCATCAT 0.458000 56 12 0 0 1 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42298225 42298225 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:42298225C>T uc021sjp.1 - 3 488 c.488G>A c.(487-489)cGa>cAa p.R163Q NM_001206670 NP_001193599 Q3MJ16 PA24E_HUMAN Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA. 145 phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) GGTTTTCTTTCGGAAACAGAG 0.507000 31 16 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43048456 43048456 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:43048456G>A uc002xma.3 + 6 921 c.832G>A c.(832-834)Gag>Aag p.E278K HNF4A_uc002xlt.3_Missense_Mutation_p.E256K|HNF4A_uc002xlu.3_Missense_Mutation_p.E256K|HNF4A_uc002xlv.3_Missense_Mutation_p.E256K|HNF4A_uc002xly.3_Missense_Mutation_p.E278K|HNF4A_uc010ggq.3_Missense_Mutation_p.E271K|HNF4A_uc002xlz.3_Missense_Mutation_p.E278K NM_000457 NP_000448 P41235 HNF4A_HUMAN Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA. 278 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCCCTTCCAGGAGCTGCAGAT 0.562000 56 32 0 0 1 0 0 ALKBH4 54784 broad.mit.edu 37 7 102100168 102100168 + Missense_Mutation SNP G T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:102100168G>T uc003uzl.3 - 1 242 c.204C>A c.(202-204)ttC>ttA p.F68L ALKBH4_uc003uzm.3_Intron NM_017621 NP_060091 Q9NXW9 ALKB4_HUMAN Homo sapiens alkB, alkylation repair homolog 4 (E. coli) (ALKBH4), mRNA. 68 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(5)|skin(2) 8 CTGGGAAGGGGAAGGCCCAGC 0.572000 164 17 1.67942e-08 1.70486e-08 1 1 0 POTEF 728378 broad.mit.edu 37 2 130877893 130877893 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:130877893G>A uc010fmh.2 - 2 596 c.196C>T c.(196-198)Cgc>Tgc p.R66C NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 66 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 AAGCAGTGGCGGCACCACTTG 0.602000 341 5 0 0 1 0 0 ABLIM1 3983 broad.mit.edu 37 10 116335243 116335243 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:116335243C>T uc021pyx.1 - 2 594 c.495G>A c.(493-495)gtG>gtA p.V165V ABLIM1_uc021pyw.1_Silent_p.V165V|ABLIM1_uc021pyy.1_Silent_p.V105V|ABLIM1_uc021pyz.1_Silent_p.V99V|ABLIM1_uc021pza.1_Silent_p.V105V|ABLIM1_uc021pze.1_Silent_p.V89V|ABLIM1_uc021pzf.1_Silent_p.V99V|ABLIM1_uc021pzd.1_Silent_p.V13V NM_002313 NP_002304 O14639 ABLM1_HUMAN Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA. 165 LIM zinc-binding 2. axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) CTTCGCCCTCCACGAACTCCC 0.537000 62 10 0 0 1 0 0 C11orf41 25758 broad.mit.edu 37 11 33566662 33566662 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:33566662C>T uc021qfs.1 + 1 2356 c.2232C>T c.(2230-2232)ctC>ctT p.L744L C11orf41_uc001mun.1_Silent_p.L750L NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA. 744 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 52 CAACTTACCTCCCCAGGAAAC 0.572000 190 37 0 0 1 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50413426 50413426 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:50413426C>T uc003daq.3 - 18 1779 c.1741G>A c.(1741-1743)Gat>Aat p.D581N CACNA2D2_uc003dap.3_Missense_Mutation_p.D581N NM_001174051 NP_001167522 Q9NY47 CA2D2_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA. 581 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) AGCTCCGCATCCAGGAAGTCC 0.592000 48 24 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542712 14542712 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:14542712C>T uc010dln.3 - 0 888 c.434G>A c.(433-435)aGa>aAa p.R145K POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 145 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 CCAGGCAGCTCTGTGGAGCTT 0.582000 145 25 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101612647 101612647 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:101612647C>T uc003yjr.3 - 8 855 c.704G>A c.(703-705)gGa>gAa p.G235E SNX31_uc011lha.2_Missense_Mutation_p.G30E|SNX31_uc011lhb.2_Missense_Mutation_p.G136E NM_152628 NP_689841 Q8N9S9 SNX31_HUMAN Homo sapiens sorting nexin 31 (SNX31), mRNA. 235 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) TTTGGCCCATCCTTTTTCAAT 0.358000 46 24 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71577257 71577257 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:71577257C>T uc002shx.3 + 1 1496 c.1173C>T c.(1171-1173)tcC>tcT p.S391S ZNF638_uc010fec.2_Silent_p.S497S|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Silent_p.S391S|ZNF638_uc002shz.3_Silent_p.S391S|ZNF638_uc002shy.3_Silent_p.S391S|ZNF638_uc002sia.3_Silent_p.S391S|ZNF638_uc002sib.1_Silent_p.S391S NM_014497 NP_055312 Q14966 ZN638_HUMAN Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA. 391 RNA splicing cytoplasm|nuclear speck RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TGAAAGCATCCTGGCTACCAA 0.403000 71 45 0 0 1 0 0 LRR1 122769 broad.mit.edu 37 14 50074322 50074322 + Missense_Mutation SNP T A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:50074322T>A uc001wwn.3 + 2 811 c.487T>A c.(487-489)Tac>Aac p.Y163N NEMF_uc010anj.1_Intron|LRR1_uc010ank.3_Missense_Mutation_p.Y104N|LRR1_uc001wwp.3_Non-coding_Transcript|LRR1_uc001wwo.3_Intron NM_152329 NP_689542 Q96L50 LLR1_HUMAN Homo sapiens leucine rich repeat protein 1 (LRR1), transcript variant 1, mRNA. 163 kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 TCAGACTTCTTACTGTGGGCT 0.338000 25 3 0 0 1 0 0 LOC283788 283788 broad.mit.edu 37 GL000219.1 88325 88325 + Silent SNP G T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chrGL000219.1:88325G>T uc022brb.1 - 2 319 c.6C>A c.(4-6)gtC>gtA p.V2V LOC283788_uc011mfq.2_Non-coding_Transcript Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA. AGGGTAAAAAGACCATTGTCG 0.413000 75 4 2.0095e-06 2.02578e-06 1 1 0 TNFRSF13B 23495 broad.mit.edu 37 17 16842985 16842985 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:16842985G>A uc002gqs.1 - 4 771 c.758C>T c.(757-759)cCc>cTc p.P253L TNFRSF13B_uc010vwt.1_Non-coding_Transcript|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.P207L NM_012452 NP_036584 O14836 TR13B_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA. 253 cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1) 16 AGCACAAGTGGGGTCGGGGGT 0.657000 IgA Deficiency, Selective 29 11 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40902461 40902461 + Missense_Mutation SNP G C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:40902461G>C uc002onr.3 - 6 2067 c.1798C>G c.(1798-1800)Ctc>Gtc p.L600V PRX_uc002onq.3_Missense_Mutation_p.L461V|PRX_uc002ons.3_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN Homo sapiens periaxin (PRX), transcript variant 2, mRNA. 600 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTTCAGGGAGTTTCATCTCA 0.557000 155 101 0 0 1 0 0 PNP 4860 broad.mit.edu 37 14 20940614 20940614 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:20940614C>T uc001vxo.4 + 1 305 c.159C>T c.(157-159)atC>atT p.I53I PNP_uc010ahm.2_Silent_p.I53I|PNP_uc010ahn.3_Silent_p.I53I|PNP_uc021rns.1_5'Flank NM_000270 NP_000261 P00491 PNPH_HUMAN Homo sapiens purine nucleoside phosphorylase (PNP), mRNA. 53 NAD biosynthesis via nicotinamide riboside salvage pathway|immune response|inosine catabolic process|interleukin-2 secretion|nicotinamide riboside catabolic process|positive regulation of T cell proliferation|positive regulation of alpha-beta T cell differentiation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process cytoskeleton|cytosol drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2) 10 Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033) ACGGTGAAATCCCCAACTTTC 0.478000 25 6 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58135710 58135710 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:58135710C>T uc003djj.2 + 36 6390 c.6225C>T c.(6223-6225)ttC>ttT p.F2075F FLNB_uc010hne.2_Silent_p.F2106F|FLNB_uc003djk.2_Silent_p.F2064F|FLNB_uc010hnf.2_Silent_p.F2051F|FLNB_uc003djl.2_Silent_p.F1895F|FLNB_uc003djm.2_Silent_p.F1882F|FLNB_uc010hng.1_Non-coding_Transcript NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 2075 Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCACCAAATTCGCTGACGAGC 0.552000 126 75 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52825903 52825903 + Missense_Mutation SNP T A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:52825903T>A uc003dfs.3 + 21 2742 c.2712T>A c.(2710-2712)gaT>gaA p.D904E ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.D762E|ITIH1_uc021wzg.1_Missense_Mutation_p.D616E|ITIH1_uc021wzh.1_Missense_Mutation_p.D616E|ITIH1_uc003dft.3_3'UTR|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank NM_002215 NP_002206 P19827 ITIH1_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA. 904 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) CCTACACTGATTATATCGTCC 0.592000 35 7 0 0 1 0 0 TFDP3 51270 broad.mit.edu 37 X 132351978 132351978 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chrX:132351978C>T uc004exb.1 - 0 399 c.310G>A c.(310-312)Gga>Aga p.G104R NM_016521 NP_057605 Q5H9I0 TFDP3_HUMAN Homo sapiens transcription factor Dp family, member 3 (TFDP3), mRNA. 104 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity p.R103S(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2) 19 Acute lymphoblastic leukemia(192;0.000127) TTCTTCTCTCCTTTCCTGTTG 0.587000 48 27 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433833 73433833 + Silent SNP G C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:73433833G>C uc003dpl.1 - 9 1980 c.1884C>G c.(1882-1884)gcC>gcG p.A628A PDZRN3_uc011bgh.1_Silent_p.A285A|PDZRN3_uc010hoe.1_Silent_p.A326A|PDZRN3_uc021xaq.1_5'UTR|PDZRN3_uc011bgf.1_Silent_p.A345A|PDZRN3_uc011bgg.1_Silent_p.A348A NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA. 628 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CCGTGCAGTCGGCCGAAATGA 0.657000 137 11 0 0 1 0 0 EGR2 1959 broad.mit.edu 37 10 64573279 64573279 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:64573279C>T uc010qio.2 - 2 1178 c.1158G>A c.(1156-1158)cgG>cgA p.R386R EGR2_uc010qim.2_Silent_p.R373R|EGR2_uc010qin.2_Silent_p.R323R|EGR2_uc001jmi.3_Silent_p.R373R|EGR2_uc009xph.3_Silent_p.R373R NM_001136179 NP_001129651 P11161 EGR2_HUMAN Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA. 373 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding p.R373Q(1)|p.R373R(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) GCATGCAGATCCGACACTGGA 0.617000 68 50 0 0 1 0 0 RBM45 129831 broad.mit.edu 37 2 178981099 178981099 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:178981099G>A uc002ulv.3 + 1 503 c.411G>A c.(409-411)cgG>cgA p.R137R NM_152945 NP_694453 Q8IUH3 RBM45_HUMAN Homo sapiens RNA binding motif protein 45 (RBM45), mRNA. 137 RRM 2. cell differentiation|nervous system development cytoplasm|nucleus RNA binding|nucleotide binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) AAGATCTGCGGGAAAAATTTA 0.368000 94 4 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37771307 37771307 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:37771307C>T uc003asq.4 - 2 1054 c.268G>A c.(268-270)Gag>Aag p.E90K ELFN2_uc021wph.1_Missense_Mutation_p.E90K NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA. 90 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) TAGGAGATCTCGTTCTTGGTG 0.597000 24 26 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26721946 26721946 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:26721946C>T uc003xfc.1 - 0 977 c.541G>A c.(541-543)Gag>Aag p.E181K ADRA1A_uc010lul.1_Missense_Mutation_p.E181K|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.E181K|ADRA1A_uc010lum.1_Missense_Mutation_p.E181K|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.E181K|ADRA1A_uc003xfh.1_Missense_Mutation_p.E181K|ADRA1A_uc022atd.1_Missense_Mutation_p.E181K NM_033303 NP_150646 P35348 ADA1A_HUMAN Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA. 181 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) TAGCCCGGCTCCTCGTTGATC 0.632000 35 14 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24952547 24952547 + Missense_Mutation SNP C G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:24952547C>G uc002rfk.3 + 14 3323 c.3064C>G c.(3064-3066)Cct>Gct p.P1022A NCOA1_uc010eye.3_Missense_Mutation_p.P1022A|NCOA1_uc002rfi.3_Missense_Mutation_p.P871A|NCOA1_uc002rfj.3_Missense_Mutation_p.P1022A|NCOA1_uc002rfl.3_Missense_Mutation_p.P1022A NM_003743 NP_003734 Q15788 NCOA1_HUMAN Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA. 1022 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGGACGATGCCTGTTCAAGT 0.537000 T PAX3 alveolar rhadomyosarcoma 69 44 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68619031 68619031 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:68619031G>A uc010bib.3 - 16 2259 c.2172C>T c.(2170-2172)tcC>tcT p.S724S ITGA11_uc002ari.3_Silent_p.S724S NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN Homo sapiens integrin, alpha 11 (ITGA11), mRNA. 724 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) GCTCCTGGCCGGAGGAGAGCA 0.612000 8 3 0 0 1 0 0 APOM 55937 broad.mit.edu 37 6 31624330 31624330 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:31624330G>A uc003nvl.3 + 1 269 c.196G>A c.(196-198)Gtg>Atg p.V66M APOM_uc003nvk.3_5'UTR NM_019101 NP_061974 O95445 APOM_HUMAN Homo sapiens apolipoprotein M (APOM), transcript variant 1, mRNA. 66 cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle binding|lipid transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1) 7 TTTTGACCCTGTGGACAACAT 0.552000 145 4 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73849580 73849580 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:73849580G>A uc003xzb.3 + 2 2578 c.1990G>A c.(1990-1992)Gat>Aat p.D664N NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 664 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TGCTGCCAGGGATGGCACGCT 0.557000 64 17 0 0 1 0 0 LRFN3 79414 broad.mit.edu 37 19 36435631 36435631 + Missense_Mutation SNP C T T rs115982229 byFrequency TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:36435631C>T uc002oco.3 + 2 2049 c.1597C>T c.(1597-1599)Ccc>Tcc p.P533S NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA. 533 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) GCCGCACGCTCCCTTCCTGGG 0.682000 16 10 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130833124 130833124 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:130833124C>T uc010fmh.2 - 16 2321 c.1921G>A c.(1921-1923)Gaa>Aaa p.E641K NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 641 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 ATGTCTTTTTCTTTCTTACAA 0.338000 24 7 0 0 1 0 0 TAF5 6877 broad.mit.edu 37 10 105145100 105145100 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:105145100C>T uc001kwv.3 + 7 1705 c.1682C>T c.(1681-1683)tCt>tTt p.S561F TAF5_uc010qqq.2_Intron NM_006951 NP_008882 Q15542 TAF5_HUMAN Homo sapiens TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa (TAF5), mRNA. 561 histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2) 15 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) CTGCTTTCCTCTTCAGAGGAC 0.393000 28 7 0 0 1 0 0 CCNT2 905 broad.mit.edu 37 2 135694410 135694410 + Splice_Site SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:135694410G>A uc002tuc.2 + 3 274 c.241_splice c.e3-1 p.I81_splice CCNT2_uc010zbf.2_Splice_Site|CCNT2_uc002tub.2_Splice_Site_p.I81_splice|CCNT2_uc002tud.2_Splice_Site NM_058241 NP_490595 O60583 CCNT2_HUMAN Homo sapiens cyclin T2 (CCNT2), transcript variant b, mRNA. 81 cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein kinase binding endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.107) CTTTTCTGCAGATAATATCGT 0.343000 25 14 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:9090831A>G uc002mkp.3 - 0 1188 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 328 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 TCATGGAAAAAGGGATAGCTG 0.522000 68 3 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50530596 50530596 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:50530596G>A uc021pqb.1 + 0 6 c.6G>A c.(4-6)atG>atA p.M2I C10orf71_uc021pqa.1_Missense_Mutation_p.M1I|C10orf71_uc021pqc.1_Missense_Mutation_p.M2I NM_001135196 NP_001128668 Q711Q0 CJ071_HUMAN Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA. 2 endometrium(1) 1 AACAGATGATGCAAGGAAATA 0.532000 8 6 0 0 1 0 0 MFSD4 148808 broad.mit.edu 37 1 205548882 205548882 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:205548882G>A uc001hcv.4 + 1 320 c.234G>A c.(232-234)ctG>ctA p.L78L MFSD4_uc010prk.2_Silent_p.L78L|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.L23L NM_181644 NP_857595 Q8N468 MFSD4_HUMAN Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA. 78 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CCTGCAGCCTGGCCCAGTCAC 0.617000 147 19 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128478361 128478361 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:128478361C>T uc003vnz.4 + 6 1297 c.1088C>T c.(1087-1089)cCc>cTc p.P363L FLNC_uc003voa.4_Missense_Mutation_p.P363L NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 363 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 GAACGCAGTCCCTTTGAGGTG 0.597000 144 39 0 0 1 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101775562 101775562 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:101775562C>T uc001pgl.3 - 4 1018 c.422G>A c.(421-423)aGa>aAa p.R141K NM_178127 NP_835228 Q86XS5 ANGL5_HUMAN Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA. 141 Fibrinogen C-terminal. signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) CTGAACAGGTCTGTGAGGAAA 0.363000 37 8 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092434 30092434 + RNA SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:30092434C>T uc010dmc.3 + 0 c.809C>T Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA. TCCACCCCCTCCTCAAGTCGT 0.537000 76 21 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105407704 105407704 + Missense_Mutation SNP A T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:105407704A>T uc010axc.1 - 6 14204 c.14084T>A c.(14083-14085)aTg>aAg p.M4695K AHNAK2_uc021sen.1_Missense_Mutation_p.M92K|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.M4595K NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 4695 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) CTTCGAATCCATTCCAACTTC 0.408000 17 15 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238234251 238234251 + Missense_Mutation SNP C T T rs138694883 TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:238234251C>T uc002vwl.2 - 42 9730 c.9445G>A c.(9445-9447)Gaa>Aaa p.E3149K COL6A3_uc002vwo.2_Missense_Mutation_p.E2943K|COL6A3_uc010znj.1_Missense_Mutation_p.E2542K|COL6A3_uc002vwj.2_Missense_Mutation_p.E530K NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 3149 BPTI/Kunitz inhibitor.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AATTTGTTTTCGTTTCCACCA 0.398000 78 56 0 0 1 0 0 KLKB1 3818 broad.mit.edu 37 4 187172969 187172969 + Silent SNP G A A rs139190582 TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:187172969G>A uc003iyy.3 + 9 1169 c.1098G>A c.(1096-1098)ggG>ggA p.G366G KLKB1_uc011clc.2_Silent_p.G164G|KLKB1_uc011cld.2_Silent_p.G328G NM_000892 NP_000883 P03952 KLKB1_HUMAN Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA. 366 Apple 4. Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) GGACACAAGGGAGCTCTGGTT 0.428000 78 38 0 0 1 0 0 CYP21A1P 1590 broad.mit.edu 37 6 31974673 31974673 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:31974673G>A uc021yve.1 + 2 1120 c.558G>A c.(556-558)gtG>gtA p.V186V Q5ST44 Q5ST44_HUMAN Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene (CYP21A1P), non-coding RNA. 182 electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen TTGTGGACGTGATTCCCTTTC 0.542000 6 3 0 0 1 0 0 TTLL2 83887 broad.mit.edu 37 6 167754081 167754081 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:167754081C>T uc003qvs.1 + 2 781 c.693C>T c.(691-693)ttC>ttT p.F231F NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA. 231 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TTAAAGACTTCATCTTTGATG 0.403000 50 14 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53994476 53994476 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:53994476G>A uc002acj.2 - 11 1466 c.1424C>T c.(1423-1425)tCg>tTg p.S475L WDR72_uc010bfi.1_Missense_Mutation_p.S475L NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN Homo sapiens WD repeat domain 72 (WDR72), mRNA. 475 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) GTCTAATTTCGAAGAGAGACC 0.383000 60 22 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79030010 79030010 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:79030010G>A uc003kgc.3 + 1 5494 c.5422G>A c.(5422-5424)Gaa>Aaa p.E1808K NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 1808 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GAGTATAACAGAACCATCAAA 0.383000 46 69 0 0 1 0 0 TK2 7084 broad.mit.edu 37 16 66547653 66547653 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:66547653G>A uc002eos.3 - 8 1031 c.680C>T c.(679-681)cCc>cTc p.P227L TK2_uc021tjp.1_Non-coding_Transcript|TK2_uc010vip.2_Missense_Mutation_p.P130L|TK2_uc002eor.3_Missense_Mutation_p.P196L|TK2_uc010cdq.3_Missense_Mutation_p.P140S|TK2_uc010viq.2_Missense_Mutation_p.P209L|TK2_uc010vir.2_Missense_Mutation_p.P202L|TK2_uc010cdr.3_Missense_Mutation_p.P178L NM_004614 NP_004605 O00142 KITM_HUMAN Homo sapiens thymidine kinase 2, mitochondrial (TK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 227 pyrimidine base metabolic process|pyrimidine nucleoside salvage mitochondrial matrix ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity large_intestine(1)|lung(2)|urinary_tract(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237) GGCTGCCATGGGGAAAAGGCT 0.537000 15 5 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 7968728 7968728 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:7968728G>A uc003gko.3 - 19 1968 c.1825C>T c.(1825-1827)Ctt>Ttt p.L609F ABLIM2_uc003gkk.3_Missense_Mutation_p.L234F|ABLIM2_uc003gkl.3_Missense_Mutation_p.L337F|ABLIM2_uc003gkm.4_Missense_Mutation_p.L557F|ABLIM2_uc003gkp.3_Missense_Mutation_p.L529F|ABLIM2_uc003gkq.3_Missense_Mutation_p.L570F|ABLIM2_uc003gkr.3_Missense_Mutation_p.L519F|ABLIM2_uc003gkj.4_Missense_Mutation_p.L643F|ABLIM2_uc003gki.3_Non-coding_Transcript NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA. 609 HP. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 CAGAACAAAAGGGCTTTCTTC 0.617000 245 9 0 0 1 0 0 ZNF77 58492 broad.mit.edu 37 19 2936597 2936597 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:2936597G>A uc002lws.4 - 2 367 c.236C>T c.(235-237)tCc>tTc p.S79F NM_021217 NP_067040 Q15935 ZNF77_HUMAN Homo sapiens zinc finger protein 77 (ZNF77), mRNA. 79 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1) 17 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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) AATAGACCAGGAATCACTTCC 0.428000 23 15 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38153722 38153722 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:38153722C>T uc003chp.1 + 24 3557 c.3536C>T c.(3535-3537)tCc>tTc p.S1179F DLEC1_uc003cho.1_Missense_Mutation_p.S1179F|DLEC1_uc010hgv.1_Missense_Mutation_p.S1182F|DLEC1_uc003chr.1_Intron|DLEC1_uc010hgx.1_Non-coding_Transcript NM_007337 NP_031363 Q9Y238 DLEC1_HUMAN Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA. 1179 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AGCATGCTATCCCACGGGAAA 0.567000 71 38 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66468611 66468611 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:66468611G>A uc001ojd.3 - 15 3031 c.2959C>T c.(2959-2961)Cta>Tta p.L987L NM_006946 NP_008877 O15020 SPTN2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA. 987 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 TCGTTGCCTAGGCCCTGGGTG 0.647000 46 15 0 0 1 0 0 DQ586822 0 broad.mit.edu 37 15 84945188 84945188 + RNA SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:84945188G>A uc002bke.2 - 0 c.2062C>T Homo sapiens cDNA FLJ34196 fis, clone FCBBF3019437. GTATCTACGGGGAGGGCCGTG 0.587000 13 4 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51175567 51175567 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:51175567G>A uc021tif.1 - 1 597 c.275C>T c.(274-276)tCc>tTc p.S92F SALL1_uc021tid.1_Missense_Mutation_p.S92F|SALL1_uc021tie.1_Missense_Mutation_p.S189F|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 189 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P91L(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GTTGATTACGGAGAAGTTGCC 0.632000 37 25 0 0 1 0 0 TRAF3IP2 10758 broad.mit.edu 37 6 111901496 111901496 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:111901496G>A uc011ebc.2 - 3 1541 c.926C>T c.(925-927)cCt>cTt p.P309L TRAF3IP2-AS1_uc021zdu.1_Intron|TRAF3IP2-AS1_uc021zdv.1_Intron|TRAF3IP2_uc003pvg.3_Missense_Mutation_p.P309L|TRAF3IP2_uc003pvf.3_Missense_Mutation_p.P309L|TRAF3IP2_uc010kdw.3_Missense_Mutation_p.P309L|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.P309L NM_147686 NP_679211 O43734 CIKS_HUMAN Homo sapiens TRAF3 interacting protein 2 (TRAF3IP2), transcript variant 2, mRNA. 318 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 18 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) CTTCTGCACAGGGTGCAGGCC 0.612000 57 15 0 0 1 0 0 PLXDC2 84898 broad.mit.edu 37 10 20432314 20432314 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:20432314C>T uc001iqg.1 + 4 1269 c.632C>T c.(631-633)tCc>tTc p.S211F PLXDC2_uc001iqh.1_Missense_Mutation_p.S162F|PLXDC2_uc009xkc.1_Non-coding_Transcript NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN Homo sapiens plexin domain containing 2 (PLXDC2), mRNA. 211 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 CCCAGTGTATCCAGAAATTCA 0.358000 33 23 0 0 1 0 0 PAH 5053 broad.mit.edu 37 12 103234250 103234250 + Missense_Mutation SNP C T T rs62644499 TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:103234250C>T uc001tjq.1 - 11 1716 c.1243G>A c.(1243-1245)Gac>Aac p.D415N NM_000277 NP_000268 P00439 PH4H_HUMAN Homo sapiens phenylalanine hydroxylase (PAH), mRNA. 415 D -> N (in non-PKU HPA; haplotype 1). L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) GTGTATGGGTCGTAGCGAACT 0.463000 63 16 0 0 1 0 0 TBCD 6904 broad.mit.edu 37 17 80739555 80739555 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:80739555C>T uc002kfy.1 + 6 859 c.729C>T c.(727-729)acC>acT p.T243T TBCD_uc002kfx.1_Silent_p.T226T|TBCD_uc002kfz.3_Silent_p.T243T NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN Homo sapiens tubulin folding cofactor D (TBCD), mRNA. 243 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction GTPase activator activity|beta-tubulin binding|chaperone binding Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) CCTTCCAGACCATGCAGGGGG 0.577000 OREG0024827 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 12 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5047024 5047024 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:5047024G>A uc002cye.2 + 7 1129 c.949G>A c.(949-951)Ggc>Agc p.G317S NM_014692 NP_055507 O43304 S14L5_HUMAN Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA. 317 CRAL-TRIO. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 CTATGCAGGGGGCTGGCATTA 0.537000 12 17 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48762114 48762114 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:48762114C>T uc002isl.3 + 28 4238 c.4158C>T c.(4156-4158)ccC>ccT p.P1386P ABCC3_uc002isn.3_Silent_p.P140P NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 1386 ABC transporter 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) ACCTGGACCCCTTCGGCAGCT 0.612000 38 19 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219562282 219562282 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:219562282C>T uc002viu.3 + 23 3137 c.2858C>T c.(2857-2859)tCc>tTc p.S953F STK36_uc002viv.3_Missense_Mutation_p.S932F|STK36_uc002vix.3_Silent_p.V14V NM_015690 NP_056505 Q9NRP7 STK36_HUMAN Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA. 953 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) ATCCTCATGTCCATCCTGAAG 0.587000 58 11 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107040243 107040243 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:107040243G>A uc010ywi.1 - 19 4237 c.4180C>T c.(4180-4182)Cgt>Tgt p.R1394C NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 1394 RanBD1 2. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 ATCAGTATACGAACGTGCTTA 0.358000 200 92 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49395274 49395274 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:49395274C>T uc001jgi.3 - 16 2558 c.2227G>A c.(2227-2229)Gac>Aac p.D743N FRMPD2_uc001jgh.3_Missense_Mutation_p.D711N|FRMPD2_uc001jgj.3_Missense_Mutation_p.D712N NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 743 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GAGAGAGAGTCCCAGGTCATT 0.577000 25 6 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100232742 100232742 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:100232742C>T uc003hus.4 - 6 984 c.900G>A c.(898-900)caG>caA p.Q300Q ADH1B_uc003hut.4_Silent_p.Q260Q|ADH1B_uc011ceh.2_Silent_p.Q145Q|ADH1B_uc011cei.1_Silent_p.Q260Q NM_000668 NP_000659 P00325 ADH1B_HUMAN Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA. 300 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TTGAGAGGTTCTGGGAAGCAG 0.473000 121 71 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39341762 39341762 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:39341762C>T uc003jlv.4 - 2 313 c.224G>A c.(223-225)gGg>gAg p.G75E NM_001737 NP_001728 P02748 CO9_HUMAN Homo sapiens complement component 9 (C9), mRNA. 75 TSP type-1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) GCATCTTTTCCCATTAAATTG 0.443000 41 8 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50955123 50955123 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:50955123C>T uc009xog.3 - 7 1234 c.1200G>A c.(1198-1200)ggG>ggA p.G400G OGDHL_uc001jie.3_Silent_p.G373G|OGDHL_uc010qgt.2_Silent_p.G316G|OGDHL_uc010qgu.2_Silent_p.G164G|OGDHL_uc009xoh.2_Silent_p.G164G NM_001143997 NP_001137469 Q9ULD0 OGDHL_HUMAN Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 373 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.A400T(3) central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 CCTTTGTCTTCCCCTGCACCA 0.617000 67 20 0 0 1 0 0 DOK6 220164 broad.mit.edu 37 18 67508502 67508502 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:67508502G>A uc002lkl.3 + 7 1076 c.879G>A c.(877-879)aaG>aaA p.K293K NM_152721 NP_689934 Q6PKX4 DOK6_HUMAN Homo sapiens docking protein 6 (DOK6), mRNA. 293 insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) GTTCGTCAAAGATGTCTCGTG 0.483000 87 19 0 0 1 0 0 RPL38 6169 broad.mit.edu 37 17 72205447 72205447 + Splice_Site SNP C T T rs139896940 byFrequency TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:72205447C>T uc002jjz.3 + 4 315 c.187_splice c.e4+1 p.G63_splice RPL38_uc002jka.3_Splice_Site_p.G63_splice NM_000999 NP_001030335 P63173 RL38_HUMAN Homo sapiens ribosomal protein L38 (RPL38), transcript variant 1, mRNA. 63 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|protein binding|structural constituent of ribosome p.P62P(1) large_intestine(1)|pancreas(1) 2 CCCTGCCCCCCGGTGAGTGAG 0.502000 45 11 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179416689 179416689 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:179416689G>A uc021vsy.1 - 283 83459 c.83234C>T c.(83233-83235)tCa>tTa p.S27745L MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S21440L|TTN_uc021vta.1_Missense_Mutation_p.S21373L|TTN_uc021vtb.1_Missense_Mutation_p.S21248L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 28672 Fibronectin type-III 102. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATAATGCTTGAGACAAGTGG 0.443000 73 11 0 0 1 0 0 RHCG 51458 broad.mit.edu 37 15 90026361 90026361 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:90026361G>A uc002bnz.2 - 2 483 c.459C>T c.(457-459)atC>atT p.I153I RHCG_uc002boa.2_Non-coding_Transcript|RHCG_uc010bnq.1_Silent_p.I37I NM_016321 NP_057405 Q9UBD6 RHCG_HUMAN Homo sapiens Rh family, C glycoprotein (RHCG), mRNA. 153 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) AGAAAGTCATGATGAGCAGCT 0.547000 16 4 0 0 1 0 0 CEP170P1 645455 broad.mit.edu 37 4 119461477 119461477 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:119461477G>A uc003icb.3 + 3 374 c.290G>A c.(289-291)aGa>aAa p.R97K Homo sapiens centrosomal protein 170kDa pseudogene 1 (CEP170P1), non-coding RNA. GGTGATCCAAGACCTCAAGCA 0.433000 24 11 0 0 1 0 0 FAXC 84553 broad.mit.edu 37 6 99797129 99797129 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:99797129C>T uc003ppj.4 - 0 403 c.120G>A c.(118-120)ggG>ggA p.G40G NM_032511 NP_115900 Q5TGI0 CF168_HUMAN Homo sapiens chromosome 6 open reading frame 168 (C6orf168), mRNA. 40 CGATGATGTCCCCATAAAAGG 0.587000 42 28 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69434069 69434069 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:69434069C>T uc010lyz.3 + 5 1092 c.801C>T c.(799-801)ccC>ccT p.P267P C8orf34_uc010lyy.2_Silent_p.P267P|C8orf34_uc003xyb.3_Silent_p.P156P NM_052958 NP_443190 Q49A92 CH034_HUMAN Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA. 181 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TTCTGAGGCCCCGTGTGATTG 0.403000 27 16 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11676141 11676141 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:11676141C>T uc021zzo.1 - 1 890 c.638G>A c.(637-639)gGg>gAg p.G213E THSD7A_uc021zzn.1_Missense_Mutation_p.G213E NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA. 213 TSP type-1 2. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GTGCTGGAGCCCGCTGCCGCA 0.607000 HNSCC(18;0.044) 24 16 0 0 1 0 0 TEC 7006 broad.mit.edu 37 4 48143406 48143406 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:48143406C>T uc003gxz.3 - 14 1592 c.1501G>A c.(1501-1503)Gga>Aga p.G501R NM_003215 NP_003206 P42680 TEC_HUMAN Homo sapiens tec protein tyrosine kinase (TEC), mRNA. 501 Protein kinase. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 TTTACAACTCCCGCCTCACTT 0.348000 54 10 0 0 1 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147027 26147027 + Missense_Mutation SNP A C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:26147027A>C uc002dof.3 + 1 1221 c.829A>C c.(829-831)Atg>Ctg p.M277L NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA. 277 heparan sulfate proteoglycan metabolic process Golgi membrane|extracellular region|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity p.S276S(1) breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) CATTCACTCCATGGCCAAGGA 0.498000 58 36 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140266997 140266997 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:140266997G>A uc010lnk.3 - 8 2188 c.1668C>T c.(1666-1668)ctC>ctT p.L556L DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.L556L|DENND2A_uc003vvw.3_Silent_p.L556L|DENND2A_uc003vvx.3_Silent_p.L556L NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA. 556 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) GGTACTCGATGAGTTCCCGGG 0.592000 21 5 0 0 1 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22259580 22259580 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:22259580C>T uc003svg.3 - 8 755 c.442G>A c.(442-444)Gat>Aat p.D148N NM_012294 NP_036426 Q92565 RPGF5_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA. 0 N-terminal Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 CCGATTTCATCTCTTTCCTGG 0.438000 23 12 0 0 1 0 0 ARRB2 409 broad.mit.edu 37 17 4619828 4619828 + Silent SNP A C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:4619828A>C uc010vsg.2 + 4 510 c.282A>C c.(280-282)ccA>ccC p.P94P ARRB2_uc002fyj.3_Silent_p.P94P|ARRB2_uc002fyk.3_Silent_p.P79P|ARRB2_uc002fyl.3_Silent_p.P94P|ARRB2_uc002fym.3_Silent_p.P79P|ARRB2_uc002fyn.3_5'UTR NM_004313 NP_004304 P32121 ARRB2_HUMAN Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA. 94 G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 TGCCCAACCCACCCCGGCCCC 0.667000 21 9 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94079205 94079205 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:94079205G>A uc001ybv.1 + 24 3435 c.3352G>A c.(3352-3354)Gac>Aac p.D1118N UNC79_uc001ybs.1_Missense_Mutation_p.D1096N NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 1273 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CGCTGGGATCGACCACCAGAC 0.512000 28 20 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24885774 24885774 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:24885774C>T uc001wpf.4 + 8 5137 c.4819C>T c.(4819-4821)Ccc>Tcc p.P1607S NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 1607 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GTCCCCATGGCCCCTCAGGTC 0.557000 23 10 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102516350 102516350 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:102516350G>A uc002cdi.3 + 10 2096 c.676G>A c.(676-678)Gga>Aga p.G226R WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA. p.G425R(2) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 CTCTGGGAAAGGACCTGGGGC 0.622000 19 3 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119957997 119957997 + Splice_Site SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:119957997G>A uc001txe.3 + 9 1505 c.1040_splice c.e9+1 p.S347_splice AF086288_uc001txf.3_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA. 347 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) CTCAAATCAAGGTAGGAAAGC 0.507000 76 25 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82582084 82582084 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:82582084C>T uc003uhx.2 - 4 8474 c.8185G>A c.(8185-8187)Gat>Aat p.D2729N PCLO_uc003uhv.2_Missense_Mutation_p.D2729N|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2660 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTACGCAAATCAATTACATCA 0.358000 12 10 0 0 1 0 0 KRT6B 3854 broad.mit.edu 37 12 52841704 52841704 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:52841704C>T uc001sak.3 - 6 1330 c.1282G>A c.(1282-1284)Gaa>Aaa p.E428K NM_005555 NP_005546 P04259 K2C6B_HUMAN Homo sapiens keratin 6B (KRT6B), mRNA. 428 Coil 2.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) TCCAGCCCTTCCAGCTTGTTC 0.592000 83 30 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81056323 81056323 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:81056323C>T uc001kaf.2 + 12 1898 c.1326C>T c.(1324-1326)tcC>tcT p.S442S ZMIZ1_uc001kag.2_Silent_p.S318S|ZMIZ1_uc001kah.1_3'UTR NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA. 442 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACTCACCTCCCCCAACTACC 0.637000 89 19 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127323764 127323764 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:127323764C>T uc003ejp.3 + 3 495 c.438C>T c.(436-438)cgC>cgT p.R146R MCM2_uc011bkm.2_Silent_p.R16R|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Silent_p.R30R NM_004526 NP_004517 P49736 MCM2_HUMAN Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA. 146 Interaction with MYST2 (By similarity). DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex|chromatin ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 ACGAGGAGCGCCCTGCCCGCA 0.652000 18 6 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28540549 28540549 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:28540549G>A uc003nlo.3 - 3 3735 c.3117C>T c.(3115-3117)ttC>ttT p.F1039F NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 1039 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ataataaagagaataatcttg 0.299000 49 4 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579419 82579419 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:82579419C>T uc003uhx.2 - 5 10774 c.10485G>A c.(10483-10485)ggG>ggA p.G3495G PCLO_uc003uhv.2_Silent_p.G3495G|PCLO_uc010lec.3_Silent_p.G460G NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3426 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CACCATATTTCCCTACACGAG 0.458000 36 49 0 0 1 0 0 OR5M11 219487 broad.mit.edu 37 11 56310107 56310107 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:56310107G>A uc010rjl.2 - 0 627 c.627C>T c.(625-627)tcC>tcT p.S209S OR8U8_uc001nit.2_Intron NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA. 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 CGATGGTGAGGGAGCTGGAGA 0.507000 21 16 0 0 1 0 0 SEC24D 9871 broad.mit.edu 37 4 119736203 119736203 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:119736203G>A uc003ici.4 - 5 1053 c.781C>T c.(781-783)Cct>Tct p.P261S SEC24D_uc003icj.4_Missense_Mutation_p.P262S|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript NM_014822 NP_055637 O94855 SC24D_HUMAN Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA. 261 Pro-rich. 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 zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 ATAGAGTCAGGATCCAGCTTC 0.522000 78 40 0 0 1 0 0 ODF3L1 161753 broad.mit.edu 37 15 76016645 76016645 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:76016645G>A uc002bax.1 + 0 327 c.105G>A c.(103-105)atG>atA p.M35I NM_175881 NP_787077 Q8IXM7 OD3L1_HUMAN Homo sapiens outer dense fiber of sperm tails 3-like 1 (ODF3L1), mRNA. 35 kidney(1)|lung(1) 2 CTGTCATCATGGCCAAGATCA 0.602000 54 29 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228168582 228168582 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:228168582G>A uc002vom.2 + 44 4125 c.3963G>A c.(3961-3963)aaG>aaA p.K1321K 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. 1321 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) TAGGAGAAAAGGGTAATCCTG 0.408000 28 10 0 0 1 0 0 SP1 6667 broad.mit.edu 37 12 53804996 53804996 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:53804996C>T uc001scw.3 + 5 2427 c.2330C>T c.(2329-2331)tCc>tTc p.S777F SP1_uc021qyf.1_Missense_Mutation_p.S729F|SP1_uc010sog.2_Missense_Mutation_p.S770F NM_138473 NP_612482 P08047 SP1_HUMAN Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA. 777 Domain D.|VZV IE62-binding. positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) GATCTGCAGTCCATTAATATC 0.547000 65 9 0 0 1 0 0 ZNF8 7554 broad.mit.edu 37 19 58806071 58806071 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:58806071C>T uc002qry.1 + 3 1027 c.897C>T c.(895-897)tcC>tcT p.S299S ZNF8_uc002qrz.3_Non-coding_Transcript NM_021089 NP_066575 P17098 ZNF8_HUMAN Homo sapiens zinc finger protein 8 (ZNF8), mRNA. 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 19 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) AGAACTCCTCCCTCGTCCAGC 0.517000 30 15 0 0 1 0 0 EMILIN1 11117 broad.mit.edu 37 2 27306476 27306476 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:27306476G>A uc002rii.4 + 3 2536 c.2037G>A c.(2035-2037)ggG>ggA p.G679G EMILIN1_uc002rik.4_5'UTR NM_007046 NP_008977 Q9Y6C2 EMIL1_HUMAN Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA. 679 cell adhesion collagen p.L678V(1) breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGACCTGGGGGCAACCAAGG 0.562000 59 37 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6470231 6470231 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:6470231C>T uc001iji.1 - 16 2242 c.2158G>A c.(2158-2160)Gac>Aac p.D720N PRKCQ_uc001ijj.2_Missense_Mutation_p.D687N|PRKCQ_uc009xim.2_Missense_Mutation_p.D624N|PRKCQ_uc009xin.2_Missense_Mutation_p.D651N|PRKCQ_uc010qax.2_Missense_Mutation_p.D562N NM_006257 NP_006248 Q04759 KPCT_HUMAN Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA. 687 T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 ATATTCTGGTCCATGCTGTTG 0.468000 99 55 0 0 1 0 0 POU5F2 134187 broad.mit.edu 37 5 93076823 93076823 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:93076823G>A uc003kkl.1 - 0 487 c.447C>T c.(445-447)atC>atT p.I149I FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron NM_153216 NP_694948 Q8N7G0 PO5F2_HUMAN Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA. 149 POU-specific. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-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;0.0415)|all cancers(79;2.03e-19) CTCCCACAGCGATCCCCACAT 0.582000 12 12 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183514226 183514226 + Missense_Mutation SNP C T T rs145036438 TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:183514226C>T uc001gqg.3 + 15 2399 c.2149C>T c.(2149-2151)Cct>Tct p.P717S SMG7_uc010pob.2_Missense_Mutation_p.P700S|SMG7_uc021pga.1_Missense_Mutation_p.P629S|SMG7_uc001gqf.3_Missense_Mutation_p.P671S|SMG7_uc001gqh.3_Missense_Mutation_p.P671S|SMG7_uc010poc.2_Missense_Mutation_p.P675S NM_173156 NP_775179 Q92540 SMG7_HUMAN Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA. 717 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GTCCCACATTCCTTACAGCCA 0.552000 106 106 0 0 1 0 0 TCF12 6938 broad.mit.edu 37 15 57524951 57524951 + Silent SNP G A A rs138618347 TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:57524951G>A uc002aec.3 + 10 1151 c.867G>A c.(865-867)acG>acA p.T289T TCF12_uc010ugm.1_Silent_p.T341T|TCF12_uc010ugn.1_Silent_p.T285T|TCF12_uc002aea.3_Silent_p.T289T|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Silent_p.T289T|TCF12_uc002aed.3_Silent_p.T289T|TCF12_uc010ugo.2_Silent_p.T53T|TCF12_uc002aee.3_Silent_p.T119T|TCF12_uc010bft.3_Silent_p.T119T NM_207038 NP_996921 Q99081 HTF4_HUMAN Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA. 289 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) ACATAAACACGAGTCTTCCAC 0.408000 T TEC extraskeletal myxoid chondrosarcoma 44 15 0 0 1 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004086 75004086 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chrX:75004086C>T uc004ecj.2 - 0 994 c.801G>A c.(799-801)ctG>ctA p.L267L NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA. 267 MAGE 1. p.L267V(1) autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ACACAAACTTCAGGGCTTCCA 0.488000 10 26 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176018433 176018433 + Missense_Mutation SNP A C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:176018433A>C uc021yie.1 + 29 3956 c.3682A>C c.(3682-3684)Aaa>Caa p.K1228Q CDHR2_uc003mem.2_Missense_Mutation_p.K1228Q|CDHR2_uc003men.1_Missense_Mutation_p.K1228Q NM_001171976 NP_060145 Q9BYE9 CDHR2_HUMAN Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA. 1228 homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CCTCCCCAACAAAGACCTGGG 0.602000 167 7 0 0 1 0 0 ZNF235 9310 broad.mit.edu 37 19 44792335 44792335 + Missense_Mutation SNP A C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:44792335A>C uc002oza.4 - 4 1356 c.1253T>G c.(1252-1254)cTt>cGt p.L418R ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.L414R NM_004234 NP_004225 Q14590 ZN235_HUMAN Homo sapiens zinc finger protein 235 (ZNF235), mRNA. 418 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) ATGGGCCTGAAGATGTGATCT 0.423000 39 17 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55419024 55419024 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:55419024C>T uc001nhs.1 + 0 645 c.645C>T c.(643-645)tcC>tcT p.S215S NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA. 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) TGCTAATCTCCTACAGCATCA 0.478000 51 39 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542972 14542972 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:14542972C>T uc010dln.3 - 0 628 c.174G>A c.(172-174)agG>agA p.R58R POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 58 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 CCATCTTGCTCCTGAGCATCT 0.577000 418 46 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36793129 36793129 + Silent SNP T C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:36793129T>C uc010lvw.3 + 26 3228 c.3141T>C c.(3139-3141)aaT>aaC p.N1047N NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA. 1047 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ATAAAAGGAATGAAGAGTTCT 0.418000 57 40 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73461949 73461949 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:73461949C>T uc001jrx.4 + 21 2952 c.2562C>T c.(2560-2562)atC>atT p.I854I CDH23_uc001jry.3_Silent_p.I854I|CDH23_uc001jrz.3_Silent_p.I854I NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 856 Cadherin 8. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TGCGCAAAATCGTCGTCTCTG 0.642000 89 25 0 0 1 0 0 IL22 50616 broad.mit.edu 37 12 68647045 68647045 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:68647045C>T uc001sty.1 - 0 237 c.184G>A c.(184-186)Gag>Aag p.E62K IL22_uc010stb.1_Missense_Mutation_p.E62K NM_020525 NP_065386 Q9GZX6 IL22_HUMAN Homo sapiens interleukin 22 (IL22), mRNA. 62 acute-phase response extracellular space cytokine activity|interleukin-22 receptor binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 14 Myeloproliferative disorder(1001;0.0255) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104) ATGTATACCTCCTTAGCCAGC 0.488000 31 13 0 0 1 0 0 MAS1 4142 broad.mit.edu 37 6 160328083 160328083 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:160328083C>T uc003qsz.3 + 0 110 c.96C>T c.(94-96)atC>atT p.I32I NM_002377 NP_002368 P04201 MAS_HUMAN Homo sapiens MAS1 oncogene (MAS1), mRNA. 32 anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) ATCGGCAAATCCCCATCGTGC 0.512000 58 33 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57769747 57769747 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:57769747C>T uc002yan.3 + 0 3673 c.3673C>T c.(3673-3675)Cct>Tct p.P1225S NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1225 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) CAATGGCCCTCCTGGGAGCAA 0.632000 23 15 0 0 1 0 0 FAM123C 205147 broad.mit.edu 37 2 131521549 131521549 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:131521549C>T uc021voy.1 + 0 1904 c.1904C>T c.(1903-1905)cCt>cTt p.P635L FAM123C_uc002trw.2_Missense_Mutation_p.P635L|FAM123C_uc010fmv.2_Missense_Mutation_p.P635L|FAM123C_uc010fms.1_Missense_Mutation_p.P635L|FAM123C_uc010fmt.1_Missense_Mutation_p.P635L|FAM123C_uc010fmu.1_Missense_Mutation_p.P635L NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 635 breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GCCCCAGTTCCTTCTACCTGG 0.582000 30 4 0 0 1 0 0 EYA2 2139 broad.mit.edu 37 20 45717935 45717935 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:45717935G>A uc002xsm.3 + 7 1093 c.719G>A c.(718-720)aGg>aAg p.R240K EYA2_uc010ghp.3_Missense_Mutation_p.R240K|EYA2_uc002xsq.3_Missense_Mutation_p.R240K NM_005244 NP_005235 O00167 EYA2_HUMAN Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA. 240 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) GACACAGACAGGCCGCACCGG 0.572000 72 31 0 0 1 0 0 ZNF442 79973 broad.mit.edu 37 19 12474403 12474403 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:12474403G>A uc002mtr.1 - 2 654 c.43C>T c.(43-45)Cct>Tct p.P15S ZNF442_uc010xmk.1_Intron NM_030824 NP_110451 Q9H7R0 ZN442_HUMAN Homo sapiens zinc finger protein 442 (ZNF442), mRNA. 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 TGAGAGTCAGGAAGGAAGAGA 0.478000 76 30 0 0 1 0 0 GDE1 51573 broad.mit.edu 37 16 19514870 19514870 + Missense_Mutation SNP T G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:19514870T>G uc002dgh.3 - 5 1082 c.918A>C c.(916-918)gaA>gaC p.E306D GDE1_uc002dgi.3_Missense_Mutation_p.E196D NM_016641 NP_057725 Q9NZC3 GDE1_HUMAN Homo sapiens glycerophosphodiester phosphodiesterase 1 (GDE1), mRNA. 306 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 13 AGTAACTCTTTTCATCAAAGG 0.458000 OREG0023659 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 57 21 0 0 1 0 0 SERPINB9 5272 broad.mit.edu 37 6 2890745 2890745 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:2890745C>T uc003mug.3 - 6 904 c.783G>A c.(781-783)aaG>aaA p.K261K AY927512_uc003mue.3_Intron|SERPINB9_uc003muf.3_Silent_p.K64K NM_004155 NP_004146 P50453 SPB9_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA. 261 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) CCTCAGTACTCTTCATACAGT 0.413000 53 39 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106357629 106357629 + Splice_Site SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:106357629C>T uc021ser.1 - 3794 c.57337_splice c.e3794-1 KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron Parts of antibodies, mostly variable regions. GGGAGCCTTCCCTTGCTGGGG 0.587000 6 8 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22591956 22591956 + Splice_Site SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:22591956G>A uc001wdd.2 + 2 188 c.41_splice c.e2-1 p.G14_splice TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc010ajj.1_Splice_Site_p.G14_splice|TCRA_uc001wde.1_Splice_Site|TCRA_uc010aji.1_Splice_Site_p.G14_splice Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01. GACCCCTTAGGAACTATAATT 0.438000 62 42 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31571214 31571214 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:31571214G>A uc002rnv.1 - 27 3146 c.3067C>T c.(3067-3069)Cat>Tat p.H1023Y NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 1023 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GTGTACACATGAAGTAGGGCT 0.522000 17 4 0 0 1 0 0 EIF4E1B 253314 broad.mit.edu 37 5 176072467 176072467 + Silent SNP C T T rs115095188 by1000genomes TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:176072467C>T uc010jkf.1 + 7 1148 c.564C>T c.(562-564)atC>atT p.I188I TSPAN17_uc003mes.3_5'Flank|TSPAN17_uc003met.3_5'Flank|TSPAN17_uc003meu.3_5'Flank|TSPAN17_uc003mew.3_5'Flank NM_001099408 NP_001092878 A6NMX2 I4E1B_HUMAN Homo sapiens eukaryotic translation initiation factor 4E family member 1B (EIF4E1B), mRNA. 188 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity breast(1)|large_intestine(1)|lung(2)|pancreas(1) 5 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGACAAGATCGCTGTGTGGA 0.622000 87 8 0 0 1 0 0 DVL2 1856 broad.mit.edu 37 17 7132918 7132919 + Missense_Mutation DNP GG AA AA rs151191814 TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:7132918_7132919GG>AA uc002gez.1 - 5 1017_1018 c.735_736CC>TT c.(733-738)ccccgc>ccTTgc p.R246C DVL2_uc010vtr.1_Missense_Mutation_p.R240C|DVL2_uc010vts.1_Missense_Mutation_p.R148C|DVL2_uc010clz.1_3'UTR NM_004422 NP_004413 O14641 DVL2_HUMAN Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA. 246 canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity p.R246H(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 CTCTCCAGGCGGGGTGGCCTCT 0.663000 78 24 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142651410 142651410 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:142651410C>T uc003wcb.3 - 7 995 c.785G>A c.(784-786)gGa>gAa p.G262E NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 262 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) TGGGTCTCCTCCCAGCAAGGT 0.547000 56 28 0 0 1 0 0 STAU2 27067 broad.mit.edu 37 8 74585419 74585419 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:74585419G>A uc003xzm.3 - 5 674 c.333C>T c.(331-333)gcC>gcT p.A111A STAU2_uc011lfh.2_Silent_p.A7A|STAU2_uc003xzn.3_Silent_p.A79A|STAU2_uc011lfg.2_Intron|STAU2_uc003xzo.3_Silent_p.A111A|STAU2_uc003xzq.3_Intron|STAU2_uc003xzp.3_Silent_p.A79A|STAU2_uc011lfi.2_Silent_p.A73A|STAU2_uc010lzk.3_Silent_p.A79A|STAU2_uc010lzl.1_Intron|STAU2_uc003xzs.3_Silent_p.A79A|STAU2_uc003xzr.3_Silent_p.A73A NM_001164380 NP_001157855 Q9NUL3 STAU2_HUMAN Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA. 111 DRBM 2. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) GCCTGTAGATGGCAGGCTCTC 0.388000 35 15 0 0 1 0 0 FAM55B 120406 broad.mit.edu 37 11 114568808 114568808 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:114568808G>A uc009yyy.2 + 2 272 c.174G>A c.(172-174)ggG>ggA p.G58G NM_182495 NP_872301 Q96DL1 FA55B_HUMAN Homo sapiens family with sequence similarity 55, member B (FAM55B), mRNA. 58 integral to membrane p.G58R(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|lung(6)|ovary(1) 14 TGAACCAAGGGAACATCTTCA 0.358000 9 3 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48761313 48761313 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:48761313G>A uc002isl.3 + 27 4038 c.3958G>A c.(3958-3960)Ggg>Agg p.G1320R ABCC3_uc002isn.3_Missense_Mutation_p.G74R NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 1320 ABC transporter 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CGCCCAGGTGGGGATCGTGGG 0.612000 13 19 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823556 38823556 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:38823556C>T uc003avs.1 - 1 679 c.582G>A c.(580-582)tcG>tcA p.S194S KCNJ4_uc003avt.1_Silent_p.S194S|KCNJ4_uc021wpp.1_Silent_p.S194S NM_004981 NP_690607 P48050 IRK4_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA. 194 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex PDZ domain binding|inward rectifier potassium channel activity endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) CGTCGCGCACCGAAATGACCG 0.632000 68 18 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101011649 101011649 + Splice_Site SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:101011649C>T uc003yjb.1 - 19 2986 c.2791_splice c.e19-1 p.V931_splice RGS22_uc003yja.1_Splice_Site_p.V750_splice|RGS22_uc003yjc.1_Splice_Site_p.V919_splice|RGS22_uc022azf.1_Splice_Site_p.V320_splice NM_015668 NP_056483 Q8NE09 RGS22_HUMAN Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA. 931 RGS 1. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AATGCATTACCTAAGAAAATT 0.368000 39 11 0 0 1 0 0 CYP3A4 1576 broad.mit.edu 37 7 99367835 99367835 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:99367835C>T uc003urv.2 - 4 449 c.342G>A c.(340-342)atG>atA p.M114I CYP3A4_uc003urw.2_Missense_Mutation_p.M114I|CYP3A4_uc011kiz.2_Intron NM_017460 NP_059488 P08684 CP3A4_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA. 114 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) TGGCACTTTTCATAAATCCCA 0.408000 60 13 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306001 54306001 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:54306001G>A uc021smr.1 + 0 901 c.901G>A c.(901-903)Gaa>Aaa p.E301K UNC13C_uc021sms.1_Missense_Mutation_p.E301K NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 301 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GTCTCGGAGGGAAACTAGAGA 0.428000 104 42 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50779290 50779290 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:50779290C>T uc010enu.1 + 27 3557 c.3510C>T c.(3508-3510)tcC>tcT p.S1170S MYH14_uc002prq.1_Silent_p.S1137S|MYH14_uc002prr.1_Silent_p.S1129S|MYH14_uc010ycb.2_5'Flank NM_001145809 NP_001139281 Q7Z406 MYH14_HUMAN Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA. 1129 axon guidance|regulation of cell shape myosin complex ATP binding|actin binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) TGCTGAAATCCCTGCGGGAGG 0.672000 22 8 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25887856 25887856 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:25887856G>A uc001isj.3 + 10 3361 c.3301G>A c.(3301-3303)Gag>Aag p.E1101K GPR158_uc001isk.3_Missense_Mutation_p.E476K NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 1101 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GAGGGCAAAAGAGGAGAACGG 0.498000 60 5 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39103760 39103760 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:39103760G>A uc004abi.3 - 15 2756 c.2517C>T c.(2515-2517)ttC>ttT p.F839F CNTNAP3_uc004abj.3_Silent_p.F838F|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.F839F NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA. 839 Laminin G-like 3. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CAATCCTGATGAAATCTGTGA 0.448000 23 10 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137488311 137488311 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:137488311C>T uc003lcf.1 - 20 2771 c.2716G>A c.(2716-2718)Gat>Aat p.D906N NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA. 906 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter NuA4 histone acetyltransferase complex|mitochondrion sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GCCTCTGGATCCTCAGTTTCC 0.537000 545 18 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47602344 47602344 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:47602344C>T uc003gxm.3 - 20 2926 c.2833G>A c.(2833-2835)Gga>Aga p.G945R CORIN_uc011bzf.2_Missense_Mutation_p.G806R|CORIN_uc011bzg.2_Missense_Mutation_p.G878R NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN Homo sapiens corin, serine peptidase (CORIN), mRNA. 945 Peptidase S1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 CGGACCTCTCCCTCTTGCAGC 0.393000 24 15 0 0 1 0 0 MEGF11 84465 broad.mit.edu 37 15 66210331 66210331 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:66210331C>T uc002apm.2 - 15 2200 c.2059G>A c.(2059-2061)Gga>Aga p.G687R MEGF11_uc002apl.2_Missense_Mutation_p.G612R|MEGF11_uc002apn.1_Missense_Mutation_p.G687R NM_032445 NP_115821 A6BM72 MEG11_HUMAN Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA. 687 EGF-like 11. basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 CCAATCCATCCAGGAAAGCAC 0.582000 24 13 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 99012752 99012752 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:99012752G>A uc010fij.3 + 7 1272 c.1131G>A c.(1129-1131)gtG>gtA p.V377V CNGA3_uc002syt.3_Silent_p.V373V|CNGA3_uc002syu.3_Silent_p.V355V Q16281 CNGA3_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA. 373 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 CACCCCCCGTGAAAGATGAGG 0.507000 61 15 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540465 55540465 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:55540465C>T uc003xsd.1 + 3 4171 c.4023C>T c.(4021-4023)acC>acT p.T1341T RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1341 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) TCTGCAATACCATTGACTTTT 0.373000 58 14 0 0 1 0 0 TUBA8 51807 broad.mit.edu 37 22 18604238 18604238 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:18604238C>T uc002znw.1 + 0 365 c.68C>T c.(67-69)tCc>tTc p.S23F TUBA8_uc002znv.2_Intron|TUBA8_uc021wkt.1_Intron NM_001193414 NP_001180343 Q9NY65 TBA8_HUMAN Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA. 0 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity p.L23L(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 GCTTCCCTCTCCCCACAGCGG 0.617000 83 5 0 0 1 0 0 MRPL1 65008 broad.mit.edu 37 4 78873669 78873669 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:78873669C>T uc003hku.2 + 8 1084 c.886C>T c.(886-888)Cgt>Tgt p.R296C NM_020236 NP_064621 Q9BYD6 RM01_HUMAN Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA. 296 RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1) 17 TGCTTTCCTTCGTAGTTCAAC 0.363000 33 10 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4824843 4824843 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:4824843G>A uc021qcs.1 - 0 768 c.768C>T c.(766-768)atC>atT p.I256I NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA. 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AAAGGGCTGGGATATAAAGAG 0.483000 113 5 0 0 1 0 0 MAP7 9053 broad.mit.edu 37 6 136681016 136681016 + Splice_Site SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:136681016C>T uc011edg.2 - 15 2194 c.1945_splice c.e15-1 p.K649_splice MAP7_uc011edf.2_Splice_Site_p.K604_splice|MAP7_uc010kgu.3_Splice_Site_p.K641_splice|MAP7_uc011edh.2_Splice_Site_p.K604_splice|MAP7_uc010kgv.3_Splice_Site_p.K641_splice|MAP7_uc010kgs.3_Splice_Site_p.K473_splice|MAP7_uc011edi.2_Splice_Site_p.K473_splice|MAP7_uc010kgq.2_Splice_Site_p.K525_splice|MAP7_uc003qgz.3_Splice_Site_p.K619_splice|MAP7_uc003qha.2_Splice_Site_p.K582_splice NM_001198609 NP_001185538 Q14244 MAP7_HUMAN Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA. 619 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) CACTGGTTTTCTACGAAGAAG 0.333000 86 36 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149557878 149557878 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:149557878C>T uc010lpn.3 + 6 1821 c.1629C>T c.(1627-1629)ctC>ctT p.L543L NM_001099220 NP_001092690 O60290 ZN862_HUMAN Homo sapiens zinc finger protein 862 (ZNF862), mRNA. 543 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 ACACTGCCCTCGTTCCAGAGA 0.488000 91 10 0 0 1 0 0 TSHR 7253 broad.mit.edu 37 14 81422151 81422151 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:81422151G>A uc001xvd.1 + 0 283 c.127G>A c.(127-129)Gat>Aat p.D43N CEP128_uc001xva.1_Intron|TSHR_uc001xvb.1_Missense_Mutation_p.D43N|TSHR_uc001xvc.3_Missense_Mutation_p.D43N|TSHR_uc010tvs.2_Missense_Mutation_p.D43N NM_000369 NP_000360 P16473 TSHR_HUMAN Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA. 43 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) CACCTGCAAGGATATTCAACG 0.602000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 77 53 0 0 1 0 0 TET2 54790 broad.mit.edu 37 4 106157936 106157936 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:106157936C>T uc011cez.2 + 2 3305 c.2900C>T c.(2899-2901)aCt>aTt p.T967I TET2_uc003hxk.3_Missense_Mutation_p.T946I|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.T946I|TET2_uc010ilp.2_Missense_Mutation_p.T946I|TET2_uc021xql.1_Missense_Mutation_p.T946I NM_001127208 NP_001120680 Q6N021 TET2_HUMAN Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA. 946 Gln-rich. 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.Q966fs*5(1)|p.Q966*(1)|p.Q966fs*42(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) CAGAAGGACACTCAAAAGCAT 0.488000 """Mis N, F""" MDS 35 14 0 0 1 0 0 MAS1 4142 broad.mit.edu 37 6 160328409 160328409 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:160328409G>A uc003qsz.3 + 0 436 c.422G>A c.(421-423)cGa>cAa p.R141Q NM_002377 NP_002368 P04201 MAS_HUMAN Homo sapiens MAS1 oncogene (MAS1), mRNA. 141 anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) ATCTGGTACCGATGCCATCGC 0.527000 79 42 0 0 1 0 0 COX15 1355 broad.mit.edu 37 10 101483841 101483841 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:101483841C>T uc001kqb.4 - 4 1239 c.622G>A c.(622-624)Gaa>Aaa p.E208K COX15_uc001kqc.4_Missense_Mutation_p.E208K|COX15_uc010qpj.2_Missense_Mutation_p.E29K NM_078470 NP_510870 Q7KZN9 COX15_HUMAN Homo sapiens COX15 homolog, cytochrome c oxidase assembly protein (yeast) (COX15), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 208 heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) TCTGATTTTTCTTCTAGTCCA 0.473000 34 18 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168352422 168352422 + Missense_Mutation SNP C T T rs117682852 by1000genomes TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:168352422C>T uc021zik.1 + 28 4563 c.4244C>T c.(4243-4245)cCc>cTc p.P1415L MLLT4_uc003qwb.1_Missense_Mutation_p.P1440L|MLLT4_uc003qwc.2_Missense_Mutation_p.P1456L|MLLT4_uc021zij.1_Missense_Mutation_p.P1439L|MLLT4_uc021zim.1_Missense_Mutation_p.P1002L|MLLT4_uc003qwg.1_Missense_Mutation_p.P765L NM_001040000 NP_001035089 P55196 AFAD_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA. 1456 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CCGTTTTCTCCCCTGACTGCA 0.617000 T MLL AL 105 48 0 0 1 0 0 HCN4 10021 broad.mit.edu 37 15 73636140 73636140 + Nonsense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:73636140C>T uc002avp.3 - 1 1789 c.795G>A c.(793-795)tgG>tgA p.W265* NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA. 265 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TGGTCAGGTCCCAGTAAAATC 0.517000 47 23 0 0 1 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156731 26156731 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:26156731C>T uc003ngq.3 + 0 173 c.113C>T c.(112-114)cCc>cTc p.P38L HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA. 38 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 GCGTCTGGGCCCCCGGTGTCC 0.662000 66 19 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94248558 94248558 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:94248558C>T uc003kkx.2 - 8 1474 c.1474G>A c.(1474-1476)Gat>Aat p.D492N MCTP1_uc003kkv.2_Missense_Mutation_p.D271N|MCTP1_uc003kkw.2_Missense_Mutation_p.D225N|MCTP1_uc003kkz.2_Missense_Mutation_p.D153N|MCTP1_uc003kku.2_Missense_Mutation_p.D8N NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA. 492 C2 2. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding p.S491S(1) breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) ACGTAGGGATCGCTCAACCCG 0.468000 45 12 0 0 1 0 0 CP 1356 broad.mit.edu 37 3 148927001 148927001 + Missense_Mutation SNP A G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:148927001A>G uc003ewy.4 - 3 1031 c.778T>C c.(778-780)Tat>Cat p.Y260H CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.Y41H|CP_uc003ewz.3_Missense_Mutation_p.Y260H|CP_uc010hvf.1_5'Flank NM_000096 NP_000087 P00450 CERU_HUMAN Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA. 260 F5/8 type A 1.|Plastocyanin-like 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) ATCTTACAATACATTCTGTTA 0.358000 47 24 0 0 1 0 0 UPF3B 65109 broad.mit.edu 37 X 118971734 118971734 + Nonsense_Mutation SNP G A A rs122468181 TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chrX:118971734G>A uc004erz.2 - 9 1388 c.1288C>T c.(1288-1290)Cga>Tga p.R430* UPF3B_uc004esa.2_Nonsense_Mutation_p.R417* NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA. 430 Necessary for interaction with RBM8A and for activating NMD.|Sufficient for association with EJC core. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1) 30 TTTCTTATTCGATCTCTCTTG 0.373000 34 11 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10433157 10433157 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:10433157C>T uc010coi.3 - 22 3060 c.2932G>A c.(2932-2934)Gaa>Aaa p.E978K AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E978K|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 978 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ACCTTGTTTTCTGTGGCATGT 0.418000 85 22 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 8010816 8010816 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:8010816C>T uc003gko.3 - 13 1481 c.1338G>A c.(1336-1338)tcG>tcA p.S446S ABLIM2_uc003gkk.3_Silent_p.S109S|ABLIM2_uc003gkl.3_Silent_p.S173S|ABLIM2_uc003gkm.4_Silent_p.S394S|ABLIM2_uc003gkp.3_Silent_p.S405S|ABLIM2_uc003gkq.3_Silent_p.S446S|ABLIM2_uc003gkr.3_Silent_p.S394S|ABLIM2_uc003gkj.4_Silent_p.S479S|ABLIM2_uc003gks.3_Silent_p.S405S NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA. 446 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 CCTCCCCATCCGATCGCCTGG 0.493000 59 39 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146570 70146570 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:70146570G>A uc003hej.3 + 0 354 c.352G>A c.(352-354)Gaa>Aaa p.E118K UGT2B28_uc010ihr.3_Missense_Mutation_p.E118K NM_053039 NP_444267 Q9BY64 UDB28_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA. 118 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AATCCTGTGGGAATTTCATGA 0.299000 58 21 0 0 1 0 0 ARSH 347527 broad.mit.edu 37 X 2942185 2942185 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chrX:2942185G>A uc011mhj.2 + 5 1025 c.1025G>A c.(1024-1026)gGg>gAg p.G342E NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN Homo sapiens arylsulfatase family, member H (ARSH), mRNA. 342 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) GGCTGGAACGGGATCTACAAA 0.527000 12 15 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159560442 159560442 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:159560442C>T uc003ipz.3 + 13 1337 c.1074C>T c.(1072-1074)atC>atT p.I358I RXFP1_uc010iqj.2_Silent_p.I187I|RXFP1_uc010iqk.3_Silent_p.I226I|RXFP1_uc011cja.2_Silent_p.I253I|RXFP1_uc010iqo.3_Silent_p.I310I|RXFP1_uc011cjb.2_Silent_p.I256I|RXFP1_uc011cjc.2_Silent_p.I277I|RXFP1_uc011cjd.2_Silent_p.I277I|RXFP1_uc010iql.3_Silent_p.I202I|RXFP1_uc011cje.2_Silent_p.I385I|RXFP1_uc010iqm.3_Silent_p.I325I|RXFP1_uc011cjf.2_Silent_p.I227I|RXFP1_uc010iqn.3_Silent_p.I303I NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA. 358 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TTTCAAATATCCAACAAAGGA 0.274000 20 6 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57173385 57173385 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:57173385G>A uc001cyk.4 + 8 1729 c.1658G>A c.(1657-1659)tGa>tAa p.*553* NM_006252 NP_006243 P54646 AAPK2_HUMAN Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA. 0 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 TTAGCCCGTTGATCTGTCTCT 0.363000 55 25 0 0 1 0 0 OR2T34 127068 broad.mit.edu 37 1 248737555 248737555 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:248737555G>A uc001iep.1 - 0 504 c.504C>T c.(502-504)acC>acT p.T168T NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA. 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGAAGCTCATGGTAATGGGGG 0.517000 48 14 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102824954 102824954 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:102824954G>A uc001phl.3 - 3 597 c.568C>T c.(568-570)Cct>Tct p.P190S NM_002427 NP_002418 P45452 MMP13_HUMAN Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA. 190 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) GGCCCAGGAGGAAAAGCATGA 0.443000 14 10 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43860578 43860578 + Missense_Mutation SNP T G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:43860578T>G uc010skx.2 - 8 1244 c.1244A>C c.(1243-1245)gAt>gCt p.D415A NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 415 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCTAGGATTATCATCATGTTG 0.323000 22 8 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9577332 9577332 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:9577332C>T uc002mlp.1 - 9 2501 c.2291G>A c.(2290-2292)gGa>gAa p.G764E ZNF560_uc010dwr.1_Missense_Mutation_p.G658E NM_152476 NP_689689 Q96MR9 ZN560_HUMAN Homo sapiens zinc finger protein 560 (ZNF560), mRNA. 764 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 GGGTTTCTCTCCCATATGAGT 0.448000 64 6 0 0 1 0 0 IL10RA 3587 broad.mit.edu 37 11 117869813 117869813 + Missense_Mutation SNP G T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:117869813G>T uc001prv.3 + 6 1271 c.1194G>T c.(1192-1194)caG>caT p.Q398H IL10RA_uc010rxl.2_Missense_Mutation_p.Q378H|IL10RA_uc010rxm.2_Missense_Mutation_p.Q378H|IL10RA_uc010rxn.2_Missense_Mutation_p.Q249H|IL10RA_uc001prw.3_Missense_Mutation_p.Q249H NM_001558 NP_001549 Q13651 I10R1_HUMAN Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA. 398 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) GCAGGGGCCAGGATGACAGTG 0.652000 31 10 7.48243e-07 7.56933e-07 1 1 0 SLC1A5 6510 broad.mit.edu 37 19 47281944 47281945 + Missense_Mutation DNP CC TT TT TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:47281944_47281945CC>TT uc002pfs.3 - 4 1665_1666 c.1045_1046GG>AA c.(1045-1047)ggg>AAg p.G349K SLC1A5_uc010xyh.2_Missense_Mutation_p.G147K|SLC1A5_uc002pfq.3_Missense_Mutation_p.G173K|SLC1A5_uc002pfr.3_Missense_Mutation_p.G121K NM_005628 NP_001138616 Q15758 AAAT_HUMAN Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA. 349 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) GGAAGAGGTCCCAAAGGCAGTG 0.584000 17 6 0 0 1 0 0 TTLL13 440307 broad.mit.edu 37 15 90794788 90794788 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:90794788C>T uc002bpd.1 + 2 548 c.260C>T c.(259-261)tCa>tTa p.S87L TTLL13_uc002bpe.1_Non-coding_Transcript NM_001029964 NP_001025135 A6NNM8 TTL13_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA. 87 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 16 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) CATTCCAGATCACTGGCCATC 0.478000 268 96 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2048778 2048778 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:2048778C>T uc003wpx.4 + 19 2691 c.2553C>T c.(2551-2553)ttC>ttT p.F851F MYOM2_uc011kwi.2_Silent_p.F276F NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 851 Fibronectin type-III 5. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TCGTGGACTTCAGGGAGGAGG 0.537000 41 23 0 0 1 0 0 C1orf172 126695 broad.mit.edu 37 1 27277853 27277853 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:27277853C>T uc001bni.2 - 1 1112 c.1019G>A c.(1018-1020)gGc>gAc p.G340D BC016143_uc021ojq.1_Intron NM_152365 NP_689578 Q8NAX2 CA172_HUMAN Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA. 340 NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GAGACCTGAGCCCACCATGGT 0.657000 10 4 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101606314 101606314 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:101606314C>T uc002bwr.3 + 31 5991 c.5672C>T c.(5671-5673)tCt>tTt p.S1891F LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA. 1891 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCCGACAGGTCTGAGCATGAC 0.617000 134 63 0 0 1 0 0 CDC45 8318 broad.mit.edu 37 22 19504138 19504138 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:19504138C>T uc011aha.2 + 16 1703 c.1625C>T c.(1624-1626)cCc>cTc p.P542L CDC45_uc002zpr.3_Missense_Mutation_p.P510L|CDC45_uc002zpt.3_Missense_Mutation_p.P464L NM_001178010 NP_001171481 O75419 CDC45_HUMAN Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA. 510 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 GTGGGCATCCCCCCAGAGACC 0.617000 37 26 0 0 1 0 0 TIMM50 92609 broad.mit.edu 37 19 39971456 39971456 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:39971456G>A uc002olu.1 + 0 405 c.272G>A c.(271-273)aGg>aAg p.R91K TIMM50_uc002olt.1_Non-coding_Transcript NM_001001563 NP_001001563 Q3ZCQ8 TIM50_HUMAN Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA. 65 mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck RNA binding|interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGGGCGAAGAGGGAGCGAGTG 0.731000 10 8 0 0 1 0 0 OR1N1 138883 broad.mit.edu 37 9 125289062 125289062 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:125289062C>T uc004bmn.1 - 0 511 c.511G>A c.(511-513)Gaa>Aaa p.E171K NM_012363 NP_036495 Q8NGS0 OR1N1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA. 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TGAGCAATTTCCCCAGTCACA 0.502000 20 8 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133814214 133814214 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:133814214G>A uc001qgx.4 - 2 541 c.310C>T c.(310-312)Cgc>Tgc p.R104C IGSF9B_uc001qgz.2_Non-coding_Transcript NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA. 104 Ig-like 1. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) TCCTCAGAGCGAACTTGTTCC 0.567000 19 3 0 0 1 0 0 CCDC54 84692 broad.mit.edu 37 3 107096883 107096883 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:107096883C>T uc003dwi.1 + 0 696 c.449C>T c.(448-450)tCc>tTc p.S150F NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA. 150 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 AATTCCTGCTCCACGATACAT 0.398000 29 22 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108051333 108051333 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:108051333C>T uc001tmk.1 + 16 3674 c.3153C>T c.(3151-3153)ctC>ctT p.L1051L BTBD11_uc001tml.1_Silent_p.L588L|BTBD11_uc001tmm.1_Silent_p.L130L NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA. 1051 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GCTACTTTCTCAAAAACATGA 0.473000 29 22 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77425737 77425737 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:77425737C>T uc004ajl.1 - 12 1729 c.1491G>A c.(1489-1491)gtG>gtA p.V497V TRPM6_uc004ajk.1_Silent_p.V492V|TRPM6_uc022bib.1_Silent_p.V492V|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.V497V|TRPM6_uc010mpd.1_Silent_p.V497V|TRPM6_uc010mpe.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 497 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TTACCTGTTTCACATCTTGGA 0.368000 17 13 0 0 1 0 0 IFRD1 3475 broad.mit.edu 37 7 112102354 112102354 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:112102354C>T uc003vgh.3 + 8 1297 c.827C>T c.(826-828)tCt>tTt p.S276F IFRD1_uc011kmn.2_Missense_Mutation_p.S226F|IFRD1_uc003vgj.3_Missense_Mutation_p.S276F|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Missense_Mutation_p.S226F NM_001007245 NP_001184009 O00458 IFRD1_HUMAN Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA. 276 multicellular organismal development|myoblast cell fate determination binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1) 15 AGCCTCCTCTCTTGTGATGAT 0.363000 22 15 0 0 1 0 0 HEYL 26508 broad.mit.edu 37 1 40092586 40092586 + Missense_Mutation SNP C G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:40092586C>G uc001cdp.3 - 4 631 c.580G>C c.(580-582)Gcc>Ccc p.A194P HEYL_uc010oiw.2_Missense_Mutation_p.A166P NM_014571 NP_055386 Q9NQ87 HEYL_HUMAN Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA. 194 Pro-rich. Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CCCAGGATGGCGAGCTGGTTG 0.667000 20 3 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66946031 66946031 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:66946031C>T uc002eql.3 - 12 1755 c.1561G>A c.(1561-1563)Gag>Aag p.E521K CDH16_uc010cdy.3_Missense_Mutation_p.E521K|CDH16_uc021tjx.1_Missense_Mutation_p.E521K|CDH16_uc002eqm.3_Missense_Mutation_p.E424K NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 521 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GGAGCTGCCTCATAACTGAGG 0.637000 34 19 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1532654 1532654 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:1532654G>A uc003skn.2 - 15 2258 c.2157C>T c.(2155-2157)ctC>ctT p.L719L INTS1_uc003skp.1_Silent_p.L66L NM_001080453 NP_001073922 Q8N201 INT1_HUMAN Homo sapiens integrator complex subunit 1 (INTS1), mRNA. 719 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) ACCCCGGTGGGAGCTGGATGT 0.672000 36 15 0 0 1 0 0 TXK 7294 broad.mit.edu 37 4 48081953 48081953 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:48081953C>T uc003gxx.4 - 10 1235 c.1149G>A c.(1147-1149)agG>agA p.R383R TXK_uc010igj.3_Non-coding_Transcript|TXK_uc011bzj.2_Silent_p.R70R NM_003328 NP_003319 P42681 TXK_HUMAN Homo sapiens TXK tyrosine kinase (TXK), mRNA. 383 Protein kinase. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 TATAGCCATTCCTCTCCAGAT 0.353000 109 54 0 0 1 0 0 NLN 57486 broad.mit.edu 37 5 65088297 65088297 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:65088297C>T uc003juf.3 + 8 1520 c.1342C>T c.(1342-1344)Cat>Tat p.H448Y NLN_uc003jue.3_Missense_Mutation_p.H448Y|NLN_uc010iww.3_Missense_Mutation_p.H143Y NM_020726 NP_065777 Q9BYT8 NEUL_HUMAN Homo sapiens neurolysin (metallopeptidase M3 family) (NLN), nuclear gene encoding mitochondrial protein, mRNA. 448 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) AAAATACAATCATGCGGCCTG 0.547000 66 79 0 0 1 0 0 OXCT2 64064 broad.mit.edu 37 1 40236095 40236095 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:40236095C>T uc001ceb.1 - 0 926 c.833G>A c.(832-834)cGa>cAa p.R278Q BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron NM_022120 NP_071403 Q9BYC2 SCOT2_HUMAN Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA. 278 ketone body catabolic process microtubule-based flagellum|mitochondrion 3-oxoacid CoA-transferase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1) 6 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) Succinic acid(DB00139) GCGCTCAATTCGTTTCTCGTA 0.517000 OREG0013400 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 83 30 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554679 140554679 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:140554679G>A uc003lit.3 + 0 2437 c.2263G>A c.(2263-2265)Gga>Aga p.G755R PCDHB8_uc011dai.2_5'Flank NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 755 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGCCTGACTGGAGGCTCCGG 0.562000 98 4 0 0 1 0 0 RGNEF 64283 broad.mit.edu 37 5 73128179 73128179 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:73128179C>T uc010izf.3 + 9 1217 c.1041C>T c.(1039-1041)atC>atT p.I347I RGNEF_uc011csq.2_Silent_p.I347I|RGNEF_uc003kcy.1_Silent_p.I347I|RGNEF_uc021yam.1_Silent_p.I347I|RGNEF_uc011csr.2_Silent_p.I34I NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA. 347 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) CCTTCGATATCCTAAAAAAAT 0.433000 8 11 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14964645 14964645 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:14964645G>A uc003bzc.3 + 15 4010 c.3900G>A c.(3898-3900)ctG>ctA p.L1300L FGD5_uc011avk.2_Silent_p.L1300L|FGD5_uc003bzd.3_Silent_p.L378L NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 1300 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TCGGGGAGCTGAAGAAGCGGG 0.627000 18 14 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89400774 89400774 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:89400774C>T uc010upo.1 + 11 5332 c.4958C>T c.(4957-4959)cCa>cTa p.P1653L ACAN_uc010upp.1_Missense_Mutation_p.P1653L|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 1653 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) AGTGGACTTCCATCTGGATTC 0.527000 146 26 0 0 1 0 0 SLC12A8 84561 broad.mit.edu 37 3 124802771 124802771 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:124802771G>A uc003ehw.4 - 13 2265 c.2195C>T c.(2194-2196)tCc>tTc p.S732F SLC12A8_uc003ehv.4_Missense_Mutation_p.S703F|SLC12A8_uc003eht.4_Missense_Mutation_p.S504F|SLC12A8_uc010hry.3_3'UTR NM_024628 NP_078904 A0AV02 S12A8_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA. 703 potassium ion transport integral to membrane symporter activity p.A732S(1) endometrium(2)|kidney(2)|lung(12) 16 GTTCACGAGGGAGGAGTGGTG 0.572000 18 4 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453137 + Missense_Mutation DNP AC TT TT rs121913377 TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:140453136_140453137AC>TT uc003vwc.4 - 14 1859_1860 c.1798_1799GT>AA c.(1798-1800)gtg>AAg p.V600K 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.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(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) TCGAGATTTCACTGTAGCTAGA 0.366000 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)|V600M(IGR1_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 48 38 0 0 1 0 0 RBM6 10180 broad.mit.edu 37 3 50112638 50112638 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:50112638C>T uc003cyc.3 + 19 3369 c.3121C>T c.(3121-3123)Cgt>Tgt p.R1041C RBM6_uc003cyd.3_Missense_Mutation_p.R519C|RBM6_uc011bdi.2_Missense_Mutation_p.R383C|RBM6_uc003cye.3_Missense_Mutation_p.R519C|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron NM_005777 NP_001161054 P78332 RBM6_HUMAN Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA. 1041 RNA processing nucleus DNA binding|RNA binding|nucleotide binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) TTGCAGTGATCGTAAACTTGT 0.468000 29 9 0 0 1 0 0 CCDC169-SOHLH2 100526761 broad.mit.edu 37 13 36764118 36764118 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr13:36764118G>A uc010tei.2 - 10 1152 c.837C>T c.(835-837)atC>atT p.I279I CCDC169-SOHLH2_uc001uvj.3_Silent_p.I202I NM_001198910 NP_001185839 B4DX90 B4DX90_HUMAN Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA. 279 regulation of transcription, DNA-dependent nucleus p.I202I(1) GAAGAAGAGAGATCTTTTTGT 0.313000 35 16 0 0 1 0 0 MAPRE3 22924 broad.mit.edu 37 2 27245162 27245162 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:27245162G>A uc002rhw.3 + 1 229 c.76G>A c.(76-78)Gac>Aac p.D26N MAPRE3_uc010yld.2_Missense_Mutation_p.D26N NM_012326 NP_036458 Q9UPY8 MARE3_HUMAN Homo sapiens microtubule-associated protein, RP/EB family, member 3 (MAPRE3), mRNA. 26 CH. cell division|mitosis|positive regulation of transcription, DNA-dependent cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm microtubule binding|protein binding|small GTPase regulator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGGGTCAACGACTCCCTGCA 0.488000 74 28 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87772372 87772372 + Missense_Mutation SNP A C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:87772372A>C uc003ujn.3 + 14 1467 c.1252A>C c.(1252-1254)Aat>Cat p.N418H ADAM22_uc003ujk.2_Missense_Mutation_p.N418H|ADAM22_uc003ujl.2_Missense_Mutation_p.N418H|ADAM22_uc003ujm.3_Missense_Mutation_p.N418H|ADAM22_uc003ujo.3_Missense_Mutation_p.N418H|ADAM22_uc003ujp.1_Missense_Mutation_p.N470H NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA. 418 Peptidase M12B. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) CACCCAGTGTAATATTGAAGA 0.348000 70 26 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46262244 46262244 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:46262244G>A uc002xtk.3 + 8 1089 c.828G>A c.(826-828)aaG>aaA p.K276K NCOA3_uc002xtl.3_Silent_p.K276K|NCOA3_uc002xtn.3_Silent_p.K276K|NCOA3_uc010ght.2_Silent_p.K276K|NCOA3_uc002xtm.3_Silent_p.K276K|NCOA3_uc010zyc.2_Silent_p.K78K NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA. 276 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TAATAGGAAAGGTTGTCAATA 0.353000 26 18 0 0 1 0 0 SPEM1 374768 broad.mit.edu 37 17 7345135 7345135 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:7345135C>T uc010vtw.1 + 4 424 c.280C>T c.(280-282)Cat>Tat p.H94Y FGF11_uc010cmh.1_Non-coding_Transcript|FGF11_uc010cmi.3_5'UTR|FGF11_uc002ggz.3_Silent_p.T115T|FGF11_uc010vtx.2_Silent_p.T56T Q8N4L4 SPEM1_HUMAN Homo sapiens fibroblast growth factor 11 (FGF11), mRNA. 219 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) GTGTGGTCACCATCCAGAGCG 0.592000 16 6 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18292236 18292236 + Nonsense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:18292236G>A uc001ipo.2 + 11 2169 c.1896G>A c.(1894-1896)tgG>tgA p.W632* SLC39A12_uc001ipn.2_Nonsense_Mutation_p.W595*|SLC39A12_uc001ipp.2_Nonsense_Mutation_p.W631*|SLC39A12_uc010qck.1_Nonsense_Mutation_p.W498*|LOC100129213_uc001ipq.1_Non-coding_Transcript NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA. 632 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 TTCAAGACTGGATCTTCACAG 0.398000 84 5 0 0 1 0 0 LOC643802 643802 broad.mit.edu 37 16 53404747 53404747 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:53404747C>T uc021tik.1 - 0 295 c.155G>A c.(154-156)gGa>gAa p.G52E NM_001207030 NP_001193959 Homo sapiens u3 small nucleolar ribonucleoprotein protein MPP10-like (LOC643802), mRNA. TCTTGGTTTTCCATGTCCTGT 0.398000 19 8 0 0 1 0 0 ZNF239 8187 broad.mit.edu 37 10 44053082 44053082 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:44053082G>A uc001jaw.4 - 1 1099 c.446C>T c.(445-447)cCc>cTc p.P149L ZNF239_uc001jax.4_Missense_Mutation_p.P149L|ZNF239_uc009xmj.3_Missense_Mutation_p.P149L|ZNF239_uc009xmk.3_Missense_Mutation_p.P149L|ZNF239_uc021pph.1_Missense_Mutation_p.P149L NM_005674 NP_005665 Q16600 ZN239_HUMAN Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA. 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 ACAGTCAATGGGATCCAAAGA 0.443000 28 15 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34077940 34077940 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:34077940G>A uc001zhi.3 + 65 9416 c.9346G>A c.(9346-9348)Gac>Aac p.D3116N RYR3_uc010bar.3_Missense_Mutation_p.D3116N NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 3116 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGAAATCAACGACCTGGCCGA 0.552000 44 27 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141093334 141093334 + Missense_Mutation SNP G A A rs139868893 byFrequency TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:141093334G>A uc002tvj.1 - 77 12938 c.11966C>T c.(11965-11967)tCt>tTt p.S3989F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 3989 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGCATTCTAGAATGATCAGT 0.463000 TSP Lung(27;0.18) 65 12 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1090784 1090784 + Nonsense_Mutation SNP A T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:1090784A>T uc001lsx.1 + 27 3706 c.3679A>T c.(3679-3681)Aag>Tag p.K1227* NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 1227 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACCCCCAGGAAAGATTCTTAA 0.557000 22 15 0 0 1 0 0 ABHD4 63874 broad.mit.edu 37 14 23072594 23072595 + Missense_Mutation DNP CC AT AT TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:23072594_23072595CC>AT uc001wgm.3 + 2 481_482 c.412_413CC>AT c.(412-414)ccc>ATc p.P138I ABHD4_uc010tmz.1_Missense_Mutation_p.P138I|ABHD4_uc010tna.1_Missense_Mutation_p.P138I|ABHD4_uc010tnb.2_Non-coding_Transcript NM_022060 NP_071343 Q8TB40 ABHD4_HUMAN Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA. 138 lipid catabolic process hydrolase activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1) 14 all_cancers(95;5.49e-05) GBM - Glioblastoma multiforme(265;0.0153) CATGGGGATCCCCAGCATGATC 0.559000 24 32 0 0 1 0 0 VEGFA 7422 broad.mit.edu 37 6 43748520 43748520 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:43748520C>T uc003owh.3 + 5 1512 c.1014C>T c.(1012-1014)tcC>tcT p.S338S VEGFA_uc003owd.3_Intron|VEGFA_uc010jyx.3_Intron|VEGFA_uc003owf.3_Silent_p.S338S|VEGFA_uc003owg.3_Silent_p.S338S|VEGFA_uc003owe.3_Intron|VEGFA_uc021yzu.1_Silent_p.S337S|VEGFA_uc003owj.3_Intron|VEGFA_uc003owi.3_Intron|VEGFA_uc003owk.3_Intron NM_001171623 NP_001165094 P15692 VEGFA_HUMAN Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA. 158 basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis cell surface|extracellular space|membrane|platelet alpha granule lumen cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309) all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196) Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641) GCAAGAAATCCCGGTATAAGT 0.552000 105 23 0 0 1 0 0 C1QTNF4 114900 broad.mit.edu 37 11 47612288 47612288 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:47612288G>A uc021qit.1 - 0 75 c.75C>T c.(73-75)tcC>tcT p.S25S C1QTNF4_uc001ngc.2_Silent_p.S25S NM_031909 NP_114115 Q9BXJ3 C1QT4_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 4 (C1QTNF4), mRNA. 25 C1q 1. extracellular region breast(2)|endometrium(1)|kidney(1)|lung(2) 6 GCAGCTCAGAGGATCCCGGGC 0.731000 9 7 0 0 1 0 0 CCR2 729230 broad.mit.edu 37 3 46399237 46399237 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:46399237G>A uc003cpn.4 + 1 704 c.219G>A c.(217-219)ctG>ctA p.L73L CCR2_uc003cpm.4_Silent_p.L73L|CCR2_uc021wxa.1_Silent_p.L73L NM_001123041 NP_001116513 P41597 CCR2_HUMAN Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA. 73 JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) GCAAAAAGCTGAAGTGCTTGA 0.488000 71 34 0 0 1 0 0 ASNS 440 broad.mit.edu 37 7 97482409 97482409 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:97482409G>A uc003uot.4 - 11 1945 c.1439C>T c.(1438-1440)tCc>tTc p.S480F ASNS_uc011kin.2_Missense_Mutation_p.S397F|ASNS_uc011kio.2_Missense_Mutation_p.S459F|ASNS_uc003uou.4_Missense_Mutation_p.S480F|ASNS_uc003uov.4_Missense_Mutation_p.S480F|ASNS_uc003uox.4_Missense_Mutation_p.S397F NM_133436 NP_001171548 P08243 ASNS_HUMAN Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA. 480 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction ATP binding|asparagine synthase (glutamine-hydrolyzing) activity ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTTAAACCAGGAATTCTTAAC 0.388000 10 15 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197071976 197071976 + Silent SNP A G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:197071976A>G uc001gtu.3 - 17 6662 c.6405T>C c.(6403-6405)agT>agC p.S2135S ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA. 2135 IQ 17. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TTGTATGGTAACTTATTCTTG 0.338000 57 31 0 0 1 0 0 CPNE6 9362 broad.mit.edu 37 14 24545621 24545621 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr14:24545621G>A uc010tnv.2 + 12 1422 c.1276G>A c.(1276-1278)Gag>Aag p.E426K CPNE6_uc001wlm.3_Missense_Mutation_p.E196K|CPNE6_uc001wll.3_Missense_Mutation_p.E371K|CPNE6_uc001wln.3_5'UTR NM_006032 NP_006023 O95741 CPNE6_HUMAN Homo sapiens copine VI (neuronal) (CPNE6), mRNA. 371 VWFA. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) CCCCAACTTCGAGGTAGGCTA 0.597000 103 29 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24921266 24921266 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:24921266C>T uc001ywo.3 + 0 726 c.252C>T c.(250-252)gtC>gtT p.V84V NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 84 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CTCTGGGGGTCCTGCCGGCTG 0.687000 26 10 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40033984 40033984 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:40033984G>A uc002xka.1 - 36 7575 c.7397C>T c.(7396-7398)cCa>cTa p.P2466L CHD6_uc002xjz.1_Missense_Mutation_p.P3L NM_032221 NP_115597 Q8TD26 CHD6_HUMAN Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA. 2466 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CATGAACAGTGGCCCCATTCC 0.587000 40 30 0 0 1 0 0 FFAR3 2865 broad.mit.edu 37 19 35862349 35862349 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:35862349C>T uc021usn.1 + 0 93 c.88C>T c.(88-90)Ccc>Tcc p.P30S NM_005304 NP_005295 O14843 FFAR3_HUMAN Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA. 30 integral to plasma membrane G-protein coupled receptor activity|lipid binding p.L29L(2) endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) GGTGGGGCTCCCCCTCAACCT 0.642000 41 26 0 0 1 0 0 LSP1 4046 broad.mit.edu 37 11 1904749 1904749 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:1904749G>A uc001lui.3 + 3 632 c.457G>A c.(457-459)Gac>Aac p.D153N LSP1_uc001luj.3_Missense_Mutation_p.D281N|LSP1_uc001luk.3_Missense_Mutation_p.D91N|LSP1_uc001lul.3_Missense_Mutation_p.D91N|LSP1_uc001lum.3_Missense_Mutation_p.D91N NM_002339 NP_001013273 P33241 LSP1_HUMAN Homo sapiens lymphocyte-specific protein 1 (LSP1), transcript variant 1, mRNA. 153 cellular component movement|cellular defense response Golgi apparatus|actin cytoskeleton|plasma membrane actin binding|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) CACTGTCCAGGACAACCTGGG 0.632000 24 5 0 0 1 0 0 MGAT3 4248 broad.mit.edu 37 22 39883631 39883631 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:39883631C>T uc003axv.4 + 1 518 c.279C>T c.(277-279)ctC>ctT p.L93L MGAT3_uc010gxy.3_Silent_p.L93L NM_002409 NP_002400 Q09327 MGAT3_HUMAN Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA. 93 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity p.E92E(1) endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) CCGAGGAGCTCCACCGGGTGG 0.687000 46 17 0 0 1 0 0 LZTS2 84445 broad.mit.edu 37 10 102762446 102762446 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:102762446C>T uc001ksj.3 + 1 321 c.151C>T c.(151-153)Cct>Tct p.P51S LZTS2_uc010qpw.2_Missense_Mutation_p.P51S|LZTS2_uc001ksk.3_Missense_Mutation_p.P51S|LZTS2_uc001ksl.3_Missense_Mutation_p.P51S|LZTS2_uc001ksm.3_Non-coding_Transcript NM_032429 NP_115805 Q9BRK4 LZTS2_HUMAN Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA. 51 Required for centrosomal localization (By similarity). Wnt receptor signaling pathway|cell division|mitosis membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) CCACGGCCCTCCTGGGCCCAC 0.687000 54 17 0 0 1 0 0 WAPAL 23063 broad.mit.edu 37 10 88259733 88259733 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:88259733C>T uc001kdn.3 - 3 1405 c.1396G>A c.(1396-1398)Gat>Aat p.D466N WAPAL_uc001kdo.3_Missense_Mutation_p.D423N|WAPAL_uc009xsw.3_Missense_Mutation_p.D423N NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA. 423 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 AGTTTAACATCCTTTTTGGAT 0.353000 17 11 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56538995 56538995 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:56538995G>A uc002qmj.3 + 6 1396 c.1396G>A c.(1396-1398)Gac>Aac p.D466N NLRP5_uc002qmi.3_Missense_Mutation_p.D447N NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 466 NACHT. mitochondrion|nucleolus ATP binding p.D466G(1) 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) TGAGCTGCTCGACCAGTGCCA 0.617000 31 15 0 0 1 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117735 117735 + RNA SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chrGL000205.1:117735C>T uc002kgk.4 + 0 c.1113C>T Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. TGGGCCTCATCGGCTTCGGTC 0.612000 65 4 0 0 1 0 0 TBCEL 219899 broad.mit.edu 37 11 120929178 120929178 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:120929178C>T uc001pxo.3 + 5 1042 c.837C>T c.(835-837)gcC>gcT p.A279A TBCEL_uc009zay.3_Silent_p.A279A|TBCEL_uc001pxp.3_Silent_p.A135A|TBCEL_uc001pxq.3_Non-coding_Transcript NM_152715 NP_689928 Q5QJ74 TBCEL_HUMAN Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA. 279 LRRCT. cytoplasm|cytoskeleton TECTA/TBCEL(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) TGGTAATAGCCAGGTCTGTTG 0.378000 79 14 0 0 1 0 0 WNT3 7473 broad.mit.edu 37 17 44851076 44851076 + Missense_Mutation SNP T A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:44851076T>A uc002ikv.2 - 1 399 c.280A>T c.(280-282)Ata>Tta p.I94L NM_030753 NP_110380 P56703 WNT3_HUMAN Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA. 94 Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(9;0.0257) CTGTCATCTATGGTGGTGCAG 0.652000 36 22 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42227313 42227313 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:42227313G>A uc003ose.2 - 8 2656 c.2093C>T c.(2092-2094)tCg>tTg p.S698L TRERF1_uc011duq.1_Missense_Mutation_p.S595L|TRERF1_uc003osb.2_Missense_Mutation_p.S434L|TRERF1_uc003osc.2_Missense_Mutation_p.S434L|TRERF1_uc003osd.2_Missense_Mutation_p.S678L NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 678 Interacts with CREBBP.|Pro-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGTGGCGCCCGAGTAGGAGGC 0.687000 81 14 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754627 49754627 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:49754627C>T uc003ozu.3 - 0 427 c.274G>A c.(274-276)Gat>Aat p.D92N NM_138733 NP_620061 P07205 PGK2_HUMAN Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA. 92 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) AACAGAACATCCTTGCCCAGC 0.512000 64 64 0 0 1 0 0 OR51L1 119682 broad.mit.edu 37 11 5021084 5021084 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:5021084C>T uc010qyu.2 + 0 872 c.872C>T c.(871-873)cCt>cTt p.P291L NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA. 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GTCCTTAACCCTATTGTCTAT 0.458000 42 18 0 0 1 0 0 CDH15 1013 broad.mit.edu 37 16 89245904 89245905 + Missense_Mutation DNP CC TT TT TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:89245904_89245905CC>TT uc002fmt.3 + 1 200_201 c.123_124CC>TT c.(121-126)agccgc>agTTgc p.R42C CDH15_uc010cij.1_Missense_Mutation_p.R42C NM_004933 NP_004924 P55291 CAD15_HUMAN Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA. 42 adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) CTGCCCTGAGCCGCGTGCGGAG 0.668000 69 18 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204438016 204438016 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:204438016G>A uc001haw.3 - 2 1394 c.915C>T c.(913-915)cgC>cgT p.R305R PIK3C2B_uc010pqv.2_Silent_p.R305R|PIK3C2B_uc001hax.1_Silent_p.R305R|PIK3C2B_uc009xbd.1_Non-coding_Transcript NM_002646 NP_002637 O00750 P3C2B_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA. 305 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) CAGAAATCCGGCGGTTCTTGC 0.577000 42 20 0 0 1 0 0 MFSD6L 162387 broad.mit.edu 37 17 8701065 8701065 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:8701065G>A uc002glp.2 - 0 1603 c.1374C>T c.(1372-1374)ctC>ctT p.L458L NM_152599 NP_689812 Q8IWD5 MFS6L_HUMAN Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA. 458 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 TCTGAATGGGGAGGACGGACC 0.612000 98 7 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321427 52321427 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:52321427G>A uc003xqu.4 - 16 2858 c.2757C>T c.(2755-2757)ctC>ctT p.L919L PXDNL_uc003xqt.4_Non-coding_Transcript NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 919 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.L919L(1)|p.L118L(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTGTCTTCAGGAGACCCCGAG 0.607000 30 9 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150703561 150703561 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:150703561C>T uc003wif.3 + 14 2095 c.1799C>T c.(1798-1800)tCc>tTc p.S600F NOS3_uc011kuy.2_Missense_Mutation_p.S394F NM_000603 NP_000594 P29474 NOS3_HUMAN Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA. 600 Flavodoxin-like. 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) TACAACAGCTCCCCTCGGCCG 0.532000 185 30 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141812708 141812708 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:141812708C>T uc002tvj.1 - 9 2501 c.1529G>A c.(1528-1530)gGa>gAa p.G510E LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 510 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCCATCACTTCCCAAGTTGAA 0.433000 TSP Lung(27;0.18) 41 7 0 0 1 0 0 ADAM32 203102 broad.mit.edu 37 8 39044448 39044448 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:39044448G>A uc003xmt.4 + 10 1181 c.936G>A c.(934-936)ctG>ctA p.L312L ADAM32_uc011lch.2_Intron|ADAM32_uc003xmu.4_Intron NM_145004 NP_659441 Q8TC27 ADA32_HUMAN Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA. 312 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) AGATAACTCTGGAGGCATTTG 0.348000 28 11 0 0 1 0 0 SLC5A3 6526 broad.mit.edu 37 21 35469240 35469240 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr21:35469240C>T uc021wir.1 + 0 1743 c.1743C>T c.(1741-1743)acC>acT p.T581T SLC5A3_uc002yto.3_Silent_p.T581T|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. 581 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 ATAATGAGACCATCAACCACA 0.463000 68 30 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88768734 88768734 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:88768734C>T uc001kee.2 + 11 1929 c.725C>T c.(724-726)tCc>tTc p.S242F AGAP11_uc001kef.3_Intron NM_133447 NP_597704 Q8TF27 AGA11_HUMAN Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA. 242 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CTGCCCCCCTCCCCTCATGCC 0.493000 55 11 0 0 1 0 0 KIAA0564 23078 broad.mit.edu 37 13 42259355 42259355 + Nonsense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr13:42259355C>T uc001uyj.3 - 34 4225 c.4155G>A c.(4153-4155)tgG>tgA p.W1385* NM_015058 NP_055873 A3KMH1 K0564_HUMAN Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA. 1385 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) ATGGTCTCTTCCAAGAATAAA 0.383000 21 8 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117376369 117376369 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:117376369G>A uc001prh.1 - 8 2044 c.2042C>T c.(2041-2043)tCg>tTg p.S681L NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 621 Ig-like C2-type 7. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CATGTCCCCCGAGGACACCAC 0.612000 27 17 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40337903 40337903 + Missense_Mutation SNP T C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:40337903T>C uc003gva.1 + 1 140 c.124T>C c.(124-126)Tat>Cat p.Y42H NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA. 42 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) TTTTGAAGATTATTCTAATGC 0.408000 55 10 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960522 73960522 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chrX:73960522G>A uc004eby.3 - 2 4487 c.3870C>T c.(3868-3870)agC>agT p.S1290S NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 1290 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TCCAGCCTGGGCTGCTCTCCT 0.507000 5 24 0 0 1 0 0 OR6B3 150681 broad.mit.edu 37 2 240985307 240985307 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:240985307G>A uc010zoe.2 - 0 183 c.183C>T c.(181-183)taC>taT p.Y61Y PRR21_uc010zod.2_5'Flank NM_173351 NP_775486 Q8NGW1 OR6B3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA. 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y61Y(2) endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) AGCTCAGAAAGTAGTACATGG 0.552000 107 6 0 0 1 0 0 MGRN1 23295 broad.mit.edu 37 16 4731692 4731692 + Nonsense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:4731692C>T uc002cxa.3 + 12 1410 c.1273C>T c.(1273-1275)Cag>Tag p.Q425* MGRN1_uc002cwz.3_Nonsense_Mutation_p.Q425*|MGRN1_uc010uxo.2_Nonsense_Mutation_p.Q403*|MGRN1_uc010uxp.2_Nonsense_Mutation_p.Q403*|MGRN1_uc010btw.3_Nonsense_Mutation_p.Q404*|MGRN1_uc010uxq.2_Non-coding_Transcript NM_015246 NP_056061 O60291 MGRN1_HUMAN Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA. 425 endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 CGGCCTGTCCCAGGCCAGCTG 0.667000 78 17 0 0 1 0 0 OR2W1 26692 broad.mit.edu 37 6 29012878 29012878 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:29012878C>T uc003nlw.2 - 0 75 c.75G>A c.(73-75)atG>atA p.M25I LOC100129636_uc021ytq.1_Intron NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA. 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 CTGACAGGATCATCTCCATTT 0.408000 87 11 0 0 1 0 0 INPP4A 3631 broad.mit.edu 37 2 99169312 99169312 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:99169312C>T uc002syy.3 + 14 1635 c.1242C>T c.(1240-1242)atC>atT p.I414I INPP4A_uc010yvj.1_Silent_p.I414I|INPP4A_uc010yvk.2_Silent_p.I414I|INPP4A_uc002syx.3_Silent_p.I409I|INPP4A_uc010fik.3_Intron NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA. 414 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 CCAAGGAGATCATCGCCCAGA 0.512000 11 10 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43439597 43439597 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:43439597C>T uc002ovl.4 - 2 488 c.386G>A c.(385-387)gGg>gAg p.G129E PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron NM_002783 NP_002774 Q13046 PSG7_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA. 130 Ig-like V-type. female pregnancy extracellular region Prostate(69;0.00682) TCCTCCAGTCCCATCACCTCG 0.493000 319 6 0 0 1 0 0 TFEC 22797 broad.mit.edu 37 7 115624483 115624483 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:115624483G>A uc003vhj.2 - 1 266 c.13C>T c.(13-15)Cat>Tat p.H5Y TFEC_uc003vhk.2_Missense_Mutation_p.H5Y|TFEC_uc003vhl.4_Missense_Mutation_p.H5Y|TFEC_uc011kmw.2_Missense_Mutation_p.H95Y NM_012252 NP_036384 O14948 TFEC_HUMAN Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA. 5 Necessary for transcriptional transactivation. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) ATGATCTGATGATCAAGGGTC 0.478000 121 10 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162307144 162307144 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:162307144G>A uc003iqh.3 - 15 2735 c.2299C>T c.(2299-2301)Ctc>Ttc p.L767F FSTL5_uc003iqi.3_Missense_Mutation_p.L766F|FSTL5_uc010iqv.3_Missense_Mutation_p.L757F NM_020116 NP_064501 Q8N475 FSTL5_HUMAN Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA. 767 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TCCACAAAGAGCACATCAGTT 0.433000 46 29 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34049299 34049299 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:34049299G>A uc001bxm.1 - 46 7360 c.7183C>T c.(7183-7185)Ctc>Ttc p.L2395F CSMD2_uc001bxn.1_Missense_Mutation_p.L2397F NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2397 CUB 14. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCCACTGTGAGGGAGATGTTA 0.507000 94 21 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51791323 51791323 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:51791323G>A uc010ufy.2 - 17 4323 c.4098C>T c.(4096-4098)gcC>gcT p.A1366A DMXL2_uc002abf.3_Silent_p.A1366A|DMXL2_uc010bfa.3_Intron NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 1366 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) GAGAGAGAATGGCTTTAGCCC 0.408000 129 9 0 0 1 0 0 PRSS54 221191 broad.mit.edu 37 16 58314181 58314181 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:58314181C>T uc002enf.3 - 6 1530 c.1135G>A c.(1135-1137)Gaa>Aaa p.E379K PRSS54_uc002eng.3_Missense_Mutation_p.E379K|PRSS54_uc010vie.2_Missense_Mutation_p.E280K|CCDC113_uc002ene.3_3'UTR|CCDC113_uc010vid.2_3'UTR NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN Homo sapiens protease, serine, 54 (PRSS54), mRNA. 379 proteolysis extracellular region serine-type endopeptidase activity p.E379K(2)|p.P378P(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATGATTTCTTCGGGCTGATAC 0.473000 27 7 0 0 1 0 0 DGKG 1608 broad.mit.edu 37 3 186015882 186015882 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:186015882C>T uc003fqa.3 - 3 818 c.281G>A c.(280-282)gGa>gAa p.G94E DGKG_uc003fqb.3_Missense_Mutation_p.G94E|DGKG_uc003fqc.3_Missense_Mutation_p.G94E|DGKG_uc011brx.2_Missense_Mutation_p.G94E NM_001346 NP_001337 P49619 DGKG_HUMAN Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA. 94 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) GTTGCTGGCTCCCTCCGTCGG 0.617000 57 30 0 0 1 0 0 INPP5F 22876 broad.mit.edu 37 10 121586293 121586293 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:121586293C>T uc001leo.3 + 19 2616 c.2400C>T c.(2398-2400)ctC>ctT p.L800L INPP5F_uc001lep.3_Silent_p.L190L NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA. 800 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) TTGGCAACCTCCGAAAGCTAG 0.323000 35 21 0 0 1 0 0 VEGFA 7422 broad.mit.edu 37 6 43739022 43739022 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:43739022C>T uc003owh.3 + 0 1077 c.579C>T c.(577-579)gcC>gcT p.A193A VEGFA_uc003owb.3_Silent_p.A13A|VEGFA_uc003owd.3_Silent_p.A193A|VEGFA_uc010jyx.3_Silent_p.A193A|VEGFA_uc003owf.3_Silent_p.A193A|VEGFA_uc003owg.3_Silent_p.A193A|VEGFA_uc003owe.3_Silent_p.A193A|VEGFA_uc021yzu.1_Silent_p.A192A|VEGFA_uc003owj.3_Silent_p.A193A|VEGFA_uc003owi.3_Silent_p.A193A NM_001171623 NP_001165094 P15692 VEGFA_HUMAN Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA. 13 basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis cell surface|extracellular space|membrane|platelet alpha granule lumen cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309) all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196) Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641) GGAGCCTTGCCTTGCTGCTCT 0.706000 33 41 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27228299 27228299 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:27228299G>A uc011lno.2 + 20 3609 c.3167G>A c.(3166-3168)cGa>cAa p.R1056Q TEK_uc003zqi.4_Missense_Mutation_p.R1099Q|TEK_uc011lnp.2_Missense_Mutation_p.R951Q NM_000459 NP_000450 Q02763 TIE2_HUMAN Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA. 1099 Protein kinase. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TTAGAGGAGCGAAAGGTAAGT 0.408000 24 11 0 0 1 0 0 ZDHHC16 84287 broad.mit.edu 37 10 99211590 99211590 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:99211590C>T uc001knj.3 + 2 524 c.158C>T c.(157-159)tCc>tTc p.S53F ZDHHC16_uc001knk.3_Missense_Mutation_p.S53F|ZDHHC16_uc001knl.3_Missense_Mutation_p.S53F|ZDHHC16_uc001knm.3_Missense_Mutation_p.S53F|ZDHHC16_uc001knn.3_Missense_Mutation_p.S53F|ZDHHC16_uc010qow.2_Missense_Mutation_p.S53F NM_198046 NP_932163 Q969W1 ZDH16_HUMAN Homo sapiens zinc finger, DHHC-type containing 16 (ZDHHC16), transcript variant 5, mRNA. 53 apoptosis endoplasmic reticulum membrane|integral to membrane acyltransferase activity|zinc ion binding kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 14 Colorectal(252;0.0846) Epithelial(162;5.81e-10)|all cancers(201;4.19e-08) CTCTACAACTCCTTTGGGGGC 0.602000 29 21 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57406584 57406584 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:57406584C>T uc001cyp.3 - 8 1403 c.1336G>A c.(1336-1338)Gcg>Acg p.A446T C8B_uc010oon.2_Missense_Mutation_p.A384T|C8B_uc010ooo.2_Missense_Mutation_p.A394T NM_000066 NP_000057 P07358 CO8B_HUMAN Homo sapiens complement component 8, beta polypeptide (C8B), mRNA. 446 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex p.A446A(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 ATCAGGTCCGCCGTCGGCAGC 0.577000 26 25 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42907175 42907175 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:42907175G>A uc002otr.3 - 8 2828 c.2551C>T c.(2551-2553)Cgc>Tgc p.R851C AK311181_uc010eif.1_Intron NM_005357 NP_005348 Q05469 LIPS_HUMAN Homo sapiens lipase, hormone-sensitive (LIPE), mRNA. 851 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) ACACTGCGGCGCATCGGCTCT 0.622000 30 8 0 0 1 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187698678 187698678 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:187698678G>A uc002upu.1 - 5 863 c.823C>T c.(823-825)Cgt>Tgt p.R275C NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA. 275 apoptosis zinc ion binding p.R275C(4) 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) TGTACCTCACGAAATGTAAAC 0.363000 24 9 0 0 1 0 0 GPR162 27239 broad.mit.edu 37 12 6933619 6933619 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:6933619C>T uc001qqw.1 + 1 1090 c.555C>T c.(553-555)ctC>ctT p.L185L GPR162_uc010sfn.1_Silent_p.L185L|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank NM_019858 NP_062832 Q16538 GP162_HUMAN Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA. 185 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 GCTTCAGCCTCTTGCTACTTG 0.622000 75 25 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33703487 33703487 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr13:33703487C>T uc001uuw.3 - 4 1453 c.1327G>A c.(1327-1329)Gag>Aag p.E443K STARD13_uc001uuu.3_Missense_Mutation_p.E435K|STARD13_uc001uuv.3_Missense_Mutation_p.E325K|STARD13_uc001uux.3_Missense_Mutation_p.E408K|STARD13_uc010abh.1_Missense_Mutation_p.E428K|STARD13_uc021rhz.1_Missense_Mutation_p.E435K|STARD13_uc021ria.1_Missense_Mutation_p.E325K NM_178006 NP_443083 Q9Y3M8 STA13_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA. 443 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) AGCCGGGGCTCCCTGGCACCA 0.557000 52 21 0 0 1 0 0 EXD3 54932 broad.mit.edu 37 9 140245817 140245817 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:140245817G>A uc004cmp.2 - 12 1533 c.1337C>T c.(1336-1338)tCc>tTc p.S446F EXD3_uc010ncf.1_Missense_Mutation_p.S126F|EXD3_uc004cmq.1_Non-coding_Transcript NM_017820 NP_060290 Q8N9H8 MUT7_HUMAN Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA. 446 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 CACCAGCCGGGAAAAGGCCTG 0.672000 16 6 0 0 1 0 0 MPEG1 219972 broad.mit.edu 37 11 58978701 58978701 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:58978701G>A uc001nnu.4 - 0 1794 c.1638C>T c.(1636-1638)tcC>tcT p.S546S NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN Homo sapiens macrophage expressed 1 (MPEG1), mRNA. 546 integral to membrane p.I545T(1) NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) CTAAATCTCTGGATATAGCAG 0.547000 52 11 0 0 1 0 0 OR52B4 143496 broad.mit.edu 37 11 4388792 4388792 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr11:4388792G>A uc010qye.2 - 0 825 c.734C>T c.(733-735)tCc>tTc p.S245F NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA. 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) GCAGACATGGGAGCCAAATGT 0.453000 31 21 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167805696 167805696 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:167805696G>A uc001ger.3 - 22 3458 c.3160C>T c.(3160-3162)Cct>Tct p.P1054S ADCY10_uc009wvj.3_5'Flank|ADCY10_uc010plj.2_Missense_Mutation_p.P901S|ADCY10_uc009wvk.3_Missense_Mutation_p.P962S NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 1054 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 GATTCCAGAGGGATAATGTCT 0.383000 54 9 0 0 1 0 0 PRKAR2A 5576 broad.mit.edu 37 3 48828002 48828002 + Missense_Mutation SNP A T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:48828002A>T uc010hki.1 - 3 651 c.410T>A c.(409-411)aTt>aAt p.I137N PRKAR2A_uc003cux.1_Missense_Mutation_p.I137N|PRKAR2A_uc003cuy.1_Missense_Mutation_p.I137N NM_004157 NP_004148 P13861 KAP2_HUMAN Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, alpha (PRKAR2A), mRNA. 137 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity SLC26A6/PRKAR2A(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) GAAAAGGAGAATATCTTTGCA 0.308000 66 23 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262407 45262407 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:45262407C>T uc003jok.3 - 7 2314 c.2289G>A c.(2287-2289)ccG>ccA p.P763P NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 763 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CTTCATTTTTCGGCGTGGAGC 0.652000 48 13 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24921501 24921501 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:24921501G>A uc001ywo.3 + 0 961 c.487G>A c.(487-489)Gat>Aat p.D163N NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 163 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) AGTGAAGAAGGATGAGGATCC 0.627000 36 5 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834785 125834785 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:125834785G>A uc001uhe.1 + 1 848 c.840G>A c.(838-840)gaG>gaA p.E280E TMEM132B_uc021rgl.1_Silent_p.E170E NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 280 integral to membrane p.D279H(1) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GCTTGGACGAGAATGTGGTCA 0.562000 158 6 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36899254 36899254 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:36899254C>T uc003cgj.3 - 11 2075 c.1827G>A c.(1825-1827)agG>agA p.R609R NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 609 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GGCTCCTCCTCCTGTTCTCCA 0.537000 89 43 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688754 26688754 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:26688754C>T uc003acb.3 + 1 673 c.477C>T c.(475-477)tcC>tcT p.S159S SEZ6L_uc003acd.3_Silent_p.S159S|SEZ6L_uc011akd.2_Silent_p.S159S|SEZ6L_uc003ace.3_Silent_p.S159S|SEZ6L_uc011akc.2_Silent_p.S159S|SEZ6L_uc003acc.3_Silent_p.S159S|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 159 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 TCCTCTCCTCCTCCACGGAGA 0.672000 86 17 0 0 1 0 0 MORC2 22880 broad.mit.edu 37 22 31331242 31331242 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:31331242G>A uc003aje.1 - 18 2983 c.1619C>T c.(1618-1620)tCc>tTc p.S540F NM_014941 NP_055756 Q9Y6X9 MORC2_HUMAN Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA. 602 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 CACCTCAGTGGAAGGTCTGGT 0.512000 3 7 0 0 1 0 0 NRP1 8829 broad.mit.edu 37 10 33491828 33491828 + Nonsense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:33491828G>A uc001iwx.4 - 10 2378 c.1855C>T c.(1855-1857)Cag>Tag p.Q619* NRP1_uc001iwv.4_Nonsense_Mutation_p.Q619*|NRP1_uc001iwy.4_Intron|NRP1_uc009xlz.3_Intron|NRP1_uc001iww.4_Intron|NRP1_uc001iwz.2_Nonsense_Mutation_p.Q619*|NRP1_uc001ixa.2_Intron|NRP1_uc001ixb.2_Nonsense_Mutation_p.Q619* NM_003873 NP_003864 O14786 NRP1_HUMAN Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA. 619 axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) CCTGTGAGCTGGAAGTCATCA 0.522000 28 19 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766120 77766120 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:77766120C>T uc003yau.2 + 9 7350 c.6963C>T c.(6961-6963)ttC>ttT p.F2321F ZFHX4_uc003yaw.1_Silent_p.F2276F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2276 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) ATGTGGTTTTCCCCAGGATCT 0.393000 HNSCC(33;0.089) 53 30 0 0 1 0 0 SPTSSB 165679 broad.mit.edu 37 3 161064020 161064020 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:161064020C>T uc003fee.3 - 2 866 c.92G>A c.(91-93)cGa>cAa p.R31Q SPTSSB_uc021xgx.1_Missense_Mutation_p.R31Q NM_001040100 NP_001035189 Q8NFR3 SSPTB_HUMAN Homo sapiens serine palmitoyltransferase, small subunit B (SPTSSB), mRNA. 31 sphingolipid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex protein binding AAACATAGATCGCTCCCAGGG 0.428000 40 18 0 0 1 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6098690 6098690 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:6098690G>A uc003spp.3 - 0 171 c.25C>T c.(25-27)Cgc>Tgc p.R9C EIF2AK1_uc003spq.3_Missense_Mutation_p.R9C|EIF2AK1_uc011jwm.1_5'UTR NM_014413 NP_055228 Q9BQI3 E2AK1_HUMAN Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 1 (EIF2AK1), transcript variant 1, mRNA. 9 negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) TCGCGCTTGCGGACCCCGGAG 0.756000 4 3 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222716881 222716881 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:222716881C>T uc001hnh.1 - 1 1030 c.972G>A c.(970-972)gaG>gaA p.E324E NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN Homo sapiens HHIP-like 2 (HHIPL2), mRNA. 324 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) CCTCTCACCTCTCTGATTTCA 0.443000 482 59 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26761387 26761387 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:26761387C>T uc003acb.3 + 12 2845 c.2649C>T c.(2647-2649)taC>taT p.Y883Y SEZ6L_uc003acd.3_Silent_p.Y819Y|SEZ6L_uc011akd.2_Silent_p.Y883Y|SEZ6L_uc003ace.3_Intron|SEZ6L_uc011akc.2_Silent_p.Y883Y|SEZ6L_uc003acc.3_Silent_p.Y883Y|SEZ6L_uc003acf.1_Silent_p.Y656Y|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.2_Non-coding_Transcript NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 883 Sushi 5. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 AAAATGGATACCAAATCCTGT 0.532000 152 51 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7580516 7580516 + Nonsense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:7580516C>T uc003mxp.1 + 22 4372 c.4093C>T c.(4093-4095)Cag>Tag p.Q1365* DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1365 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CTTAAAAAATCAGTTTGAGAC 0.458000 49 50 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33954745 33954745 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:33954745C>T uc001bxj.4 + 3 802 c.635C>T c.(634-636)cCa>cTa p.P212L ZSCAN20_uc001bxk.2_Intron|ZSCAN20_uc009vui.3_Missense_Mutation_p.P212L NM_145238 NP_660281 P17040 ZSC20_HUMAN Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA. 212 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P212L(4) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCTACTCTCCCAAAGATGGGG 0.517000 16 6 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704146 56704146 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:56704146G>A uc010ygh.2 - 0 276 c.276C>T c.(274-276)ttC>ttT p.F92F NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA. 92 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TGGAGATCATGAACTGCTCCA 0.552000 25 10 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38530743 38530743 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:38530743C>T uc010ive.1 - 1 339 c.7G>A c.(7-9)Gat>Aat p.D3N LIFR_uc003jli.2_Missense_Mutation_p.D3N NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 3 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) ACGTAAATATCCATCATCTGT 0.408000 T PLAG1 salivary adenoma 36 19 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124044942 124044942 + Missense_Mutation SNP A T T rs142370141 TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:124044942A>T uc003ehg.3 + 6 1329 c.1202A>T c.(1201-1203)aAg>aTg p.K401M KALRN_uc010hrv.1_Missense_Mutation_p.K401M|KALRN_uc003ehf.1_Missense_Mutation_p.K401M|KALRN_uc011bjy.1_Missense_Mutation_p.K401M NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 401 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CAGGAGTGGAAGAGCTTCGCT 0.572000 62 19 0 0 1 0 0 KRT79 338785 broad.mit.edu 37 12 53217736 53217736 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:53217736C>T uc001sbb.3 - 5 1114 c.1081G>A c.(1081-1083)Gag>Aag p.E361K KRT79_uc001sba.3_Missense_Mutation_p.E132K NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN Homo sapiens keratin 79 (KRT79), mRNA. 361 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 TCAGCAATCTCGTTCTTGGTG 0.602000 18 21 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133235967 133235967 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:133235967G>A uc001uks.1 - 25 3233 c.3189C>T c.(3187-3189)ttC>ttT p.F1063F POLE_uc001ukr.1_5'Flank|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.F1036F NM_006231 NP_006222 Q07864 DPOE1_HUMAN Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA. 1063 DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GGTCTCCCAGGAACTCGGCCA 0.602000 DNA polymerases (catalytic subunits) 27 4 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32072297 32072297 + Nonsense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:32072297C>T uc003jhl.3 + 16 2987 c.2599C>T c.(2599-2601)Cag>Tag p.Q867* PDZD2_uc003jhm.3_Nonsense_Mutation_p.Q867*|PDZD2_uc011cnx.1_Nonsense_Mutation_p.Q693* NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 867 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TGAACTCTCCCAGTACTTTGC 0.507000 67 17 0 0 1 0 0 TBC1D17 79735 broad.mit.edu 37 19 50387813 50387813 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:50387813C>T uc002pqo.3 + 11 1640 c.1341C>T c.(1339-1341)ctC>ctT p.L447L TBC1D17_uc010ybg.2_Silent_p.L414L|TBC1D17_uc002pqp.3_Silent_p.L98L|TBC1D17_uc002pqr.3_Silent_p.L98L NM_024682 NP_078958 Q9HA65 TBC17_HUMAN Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA. 447 Rab-GAP TBC. intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) TCATGGAGCTCGTGGTGAGGC 0.587000 53 23 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149482603 149482603 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:149482603G>A uc010lpk.3 + 21 3019 c.3019G>A c.(3019-3021)Ggc>Agc p.G1007S SSPO_uc010lpl.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 1007 cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCACTGCACAGGCCAGCGGCG 0.662000 6 11 0 0 1 0 0 PFKL 5211 broad.mit.edu 37 21 45733536 45733536 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr21:45733536C>T uc002zek.3 + 8 1151 c.750C>T c.(748-750)ttC>ttT p.F250F PFKL_uc002zel.3_Silent_p.F203F P17858 K6PL_HUMAN Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA. 203 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) AGAGGACCTTCGTGCTGGAAG 0.672000 14 13 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11008498 11008498 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:11008498C>T uc010oao.2 - 11 1694 c.1694G>A c.(1693-1695)gGc>gAc p.G565D C1orf127_uc001ars.2_Missense_Mutation_p.G400D|C1orf127_uc001arr.2_Missense_Mutation_p.G408D NM_001170754 NP_001164225 B7ZLG7 B7ZLG7_HUMAN Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA. 416 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) GCTTGACAAGCCTCTCAGCAG 0.632000 37 17 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 148080748 148080748 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:148080748G>A uc003weu.2 + 21 3999 c.3483G>A c.(3481-3483)ggG>ggA p.G1161G CNTNAP2_uc003wev.2_5'UTR NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 1161 Laminin G-like 4. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TAGAAACAGGGAAAATTGACC 0.433000 HNSCC(39;0.1) 41 19 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2886862 2886862 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:2886862C>T uc022aqr.1 - 50 8224 c.7834G>A c.(7834-7836)Gat>Aat p.D2612N CSMD1_uc011kwj.2_Missense_Mutation_p.D1942N|CSMD1_uc010lrg.3_Missense_Mutation_p.D681N NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 2613 Sushi 16. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGCCTCTCATCTCCTATGTTC 0.527000 18 9 0 0 1 0 0 MOCS1 4337 broad.mit.edu 37 6 39874463 39874463 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:39874463G>A uc003opb.3 - 9 1719 c.1581C>T c.(1579-1581)ctC>ctT p.L527L MOCS1_uc003opa.3_3'UTR|MOCS1_uc003opd.3_3'UTR|MOCS1_uc003ope.3_Silent_p.L424L NM_005943 NP_005934 Q9NZB8 MOCS1_HUMAN Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA. 527 Molybdenum cofactor biosynthesis protein C. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) CTCCTTTCTTGAGCTGGTTCT 0.627000 57 21 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51791004 51791004 + Missense_Mutation SNP G C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:51791004G>C uc010ufy.2 - 17 4642 c.4417C>G c.(4417-4419)Caa>Gaa p.Q1473E DMXL2_uc002abf.3_Missense_Mutation_p.Q1473E|DMXL2_uc010bfa.3_Intron NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 1473 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) TCCTGGATTTGAAACAGCTCT 0.353000 141 10 0 0 1 0 0 C2orf51 200523 broad.mit.edu 37 2 88828792 88828792 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:88828792G>A uc002stb.2 + 3 485 c.343G>A c.(343-345)Gat>Aat p.D115N NM_152670 NP_689883 Q96LM6 TSC21_HUMAN Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA. 115 nucleus large_intestine(2)|lung(11)|prostate(1)|skin(1) 15 AGCTTCCCACGATCTGCACCT 0.602000 90 20 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77246593 77246593 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:77246593C>T uc010xfg.2 + 8 2891 c.2438C>T c.(2437-2439)tCg>tTg p.S813L NFATC1_uc002lnd.3_Missense_Mutation_p.S813L|NFATC1_uc002lne.3_Missense_Mutation_p.S341L|NFATC1_uc010xfh.2_Intron|NFATC1_uc010xfj.2_Missense_Mutation_p.S341L|NFATC1_uc002lnf.3_Missense_Mutation_p.S800L|NFATC1_uc002lng.3_Missense_Mutation_p.S800L|NFATC1_uc010xfk.2_Intron NM_006162 NP_006153 O95644 NFAC1_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA. 813 Trans-activation domain B (TAD-B). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CACCCCGGCTCGCCCGGGCAG 0.746000 19 5 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23810687 23810687 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:23810687C>T uc003sws.4 + 13 1844 c.1777C>T c.(1777-1779)Cat>Tat p.H593Y STK31_uc003swt.4_Missense_Mutation_p.H570Y|STK31_uc011jze.2_Missense_Mutation_p.H593Y|STK31_uc010kuq.3_Missense_Mutation_p.H570Y NM_031414 NP_116562 Q9BXU1 STK31_HUMAN Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA. 593 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GCAAAAGATTCATTCAGAGGA 0.338000 58 30 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9088178 9088178 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:9088178C>T uc002mkp.3 - 0 3841 c.3637G>A c.(3637-3639)Gga>Aga p.G1213R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1213 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 GTGCTTTTTCCTATGGCACCA 0.493000 192 43 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197122612 197122612 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:197122612G>A uc002utm.1 - 17 3537 c.3354C>T c.(3352-3354)atC>atT p.I1118I HECW2_uc002utl.1_Silent_p.I762I|BC062769_uc002utn.1_5'Flank NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 1118 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CTTCAGTTCGGATAAATTGGA 0.398000 26 17 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46060509 46060509 + Silent SNP C T T rs139933358 TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:46060509C>T uc003gxb.3 - 5 908 c.756G>A c.(754-756)acG>acA p.T252T NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA. 252 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.T252M(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TACCAGAGATCGTGTGAGTGA 0.328000 32 14 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161027662 161027662 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:161027662G>A uc003qtl.3 - 17 2752 c.2632C>T c.(2632-2634)Cca>Tca p.P878S NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 3386 Kringle 8. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ACAGGATCTGGATTCCTGCAG 0.522000 172 33 0 0 1 0 0 DHFRL1 200895 broad.mit.edu 37 3 93780086 93780086 + Silent SNP A T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:93780086A>T uc003dri.3 - 1 607 c.270T>A c.(268-270)ctT>ctA p.L90L DHFRL1_uc003drj.3_Silent_p.L90L|DHFRL1_uc021xbk.1_Silent_p.L90L|NSUN3_uc003drk.3_5'Flank|NSUN3_uc003drl.1_5'Flank NM_176815 NP_789785 Q86XF0 DYRL1_HUMAN Homo sapiens dihydrofolate reductase-like 1 (DHFRL1), transcript variant 2, mRNA. 90 DHFR. glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process NADP binding|dihydrofolate reductase activity kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 8 AACTTCTGGCAAGAAAATGAG 0.393000 82 28 0 0 1 0 0 BHMT 635 broad.mit.edu 37 5 78417063 78417063 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:78417063C>T uc003kfu.4 + 4 605 c.500C>T c.(499-501)gCt>gTt p.A167V BHMT_uc011cti.2_Intron NM_001713 NP_001704 Q93088 BHMT1_HUMAN Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA. 167 Hcy-binding. protein methylation|regulation of homocysteine metabolic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2) 29 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36) L-Methionine(DB00134) GTTGAAGAAGCTGTGTGGGCA 0.443000 125 43 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7476893 7476893 + Missense_Mutation SNP A C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:7476893A>C uc001qsx.1 + 9 1333 c.1333A>C c.(1333-1335)Acg>Ccg p.T445P NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA. 445 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding p.A444S(1) endometrium(6)|kidney(1)|lung(14) 21 AACTGCTGCCACGATAAGAGG 0.453000 10 12 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236736124 236736124 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:236736124G>A uc001hyd.2 - 24 3616 c.3464C>T c.(3463-3465)tCc>tTc p.S1155F HEATR1_uc009xgh.2_Missense_Mutation_p.S317F NM_018072 NP_060542 Q9H583 HEAT1_HUMAN Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA. 1155 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AGCATTAACGGAAATCTGAAA 0.368000 136 5 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572572 140572572 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:140572572G>A uc003lix.3 + 0 621 c.447G>A c.(445-447)ggG>ggA p.G149G NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN Homo sapiens protocadherin beta 10 (PCDHB10), mRNA. 149 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGCTGAAGGGACAGCATTTA 0.408000 51 45 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45750237 45750237 + Nonsense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr7:45750237C>T uc003tne.4 + 18 3061 c.3043C>T c.(3043-3045)Cag>Tag p.Q1015* NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 1015 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) CACAGGGGTCCAGGGCAGAAT 0.587000 35 14 0 0 1 0 0 AGAP4 119016 broad.mit.edu 37 10 46321432 46321432 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:46321432G>A uc001jcx.4 - 6 2049 c.1923C>T c.(1921-1923)gcC>gcT p.A641A AGAP4_uc021pps.1_Silent_p.A641A|AGAP4_uc010qfl.2_Silent_p.A664A|AGAP4_uc001jcy.4_Silent_p.A556A|DQ588224_uc010qfm.1_5'Flank NM_133446 NP_597703 Q96P64 AGAP4_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 (AGAP4), mRNA. 641 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding central_nervous_system(1)|lung(1)|ovary(1) 3 AGGCCTGCCGGGCGTAGGTCA 0.607000 73 22 0 0 1 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61287908 61287908 + Silent SNP C G G TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:61287908C>G uc002ydb.1 + 1 307 c.102C>G c.(100-102)tcC>tcG p.S34S NM_016354 NP_057438 Q96BD0 SO4A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA. 34 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) GGAGGGCATCCCCGGGCACAC 0.687000 7 6 0 0 1 0 0 MTMR12 54545 broad.mit.edu 37 5 32239170 32239170 + Nonsense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:32239170C>T uc003jhq.3 - 12 1451 c.1281G>A c.(1279-1281)tgG>tgA p.W427* MTMR12_uc010iuk.3_Nonsense_Mutation_p.W427*|MTMR12_uc010iul.3_Nonsense_Mutation_p.W427* NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN Homo sapiens myotubularin related protein 12 (MTMR12), mRNA. 427 Myotubularin phosphatase. cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 CACCCATGACCCACTCCTTTT 0.537000 19 14 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72828274 72828274 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:72828274G>A uc002fck.3 - 8 8980 c.8307C>T c.(8305-8307)agC>agT p.S2769S ZFHX3_uc002fcl.3_Silent_p.S1855S NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 2769 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GGTGGGAAAAGCTAGTTCCGT 0.493000 40 17 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15296429 15296429 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:15296429G>A uc002nan.3 - 12 2089 c.2013C>T c.(2011-2013)tcC>tcT p.S671S NOTCH3_uc002nao.1_Silent_p.S671S NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Homo sapiens notch 3 (NOTCH3), mRNA. 671 EGF-like 17; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CATCCACACAGGAACCTCCCT 0.607000 55 28 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 116975592 116975592 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:116975592G>A uc001lcg.3 + 8 1872 c.1486G>A c.(1486-1488)Gga>Aga p.G496R NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN Homo sapiens attractin-like 1 (ATRNL1), mRNA. 496 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GAACAAATATGGATTGGTTGA 0.318000 16 14 0 0 1 0 0 RSPH6A 81492 broad.mit.edu 37 19 46299167 46299167 + Missense_Mutation SNP T C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:46299167T>C uc002pdm.3 - 5 2285 c.2114A>G c.(2113-2115)gAg>gGg p.E705G RSPH6A_uc002pdl.3_Missense_Mutation_p.E441G NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA. 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 ctcctcgccctcctcctcctc 0.592000 117 4 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45645563 45645563 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:45645563G>A uc003jok.3 - 1 598 c.573C>T c.(571-573)atC>atT p.I191I NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 191 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TAAAATTCATGATCAGGTCCA 0.378000 36 21 0 0 1 0 0 GRB7 2886 broad.mit.edu 37 17 37898819 37898819 + Splice_Site SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:37898819G>A uc002hsr.3 + 3 431 c.156_splice c.e3-1 p.R52_splice GRB7_uc002hss.3_Splice_Site_p.R52_splice|GRB7_uc021twu.1_Splice_Site_p.R75_splice|GRB7_uc010cwc.3_Splice_Site_p.R52_splice|GRB7_uc002hst.3_Splice_Site_p.R52_splice NM_005310 NP_005301 Q14451 GRB7_HUMAN Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA. 52 blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CTTGCCACAGGAAACTTCGAG 0.607000 95 23 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 13356975 13356975 + Missense_Mutation SNP T C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr8:13356975T>C uc003wwm.2 - 1 1050 c.606A>G c.(604-606)atA>atG p.I202M DLC1_uc003wwn.3_Missense_Mutation_p.I202M|DLC1_uc011kxy.2_Missense_Mutation_p.I202M NM_182643 NP_872584 Q96QB1 RHG07_HUMAN Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA. 202 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GTGCATCTTTTATTTCACTTA 0.368000 86 40 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34276436 34276436 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:34276436G>A uc001bxm.1 - 9 1531 c.1354C>T c.(1354-1356)Ccc>Tcc p.P452S CSMD2_uc001bxn.1_Missense_Mutation_p.P412S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 412 CUB 3. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ATGCCCGAGGGGCCTCGAAGG 0.537000 86 32 0 0 1 0 0 KRTAP13-2 337959 broad.mit.edu 37 21 31744370 31744370 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr21:31744370C>T uc002ynz.4 - 0 188 c.162G>A c.(160-162)agG>agA p.R54R NM_181621 NP_853652 Q52LG2 KR132_HUMAN Homo sapiens keratin associated protein 13-2 (KRTAP13-2), nuclear gene encoding mitochondrial protein, mRNA. 54 5 X 10 AA approximate repeats. intermediate filament endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 21 CCTGACAGCCCCTATAGAGAG 0.612000 50 26 0 0 1 0 0 SLC10A7 84068 broad.mit.edu 37 4 147227162 147227162 + Splice_Site SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:147227162C>T uc010ioz.2 - 7 726 c.472_splice c.e7-1 p.L158_splice SLC10A7_uc003ikr.2_Splice_Site_p.L158_splice|SLC10A7_uc010ipa.2_Splice_Site_p.L145_splice|SLC10A7_uc003iks.2_Splice_Site NM_001029998 NP_001025169 Q0GE19 NTCP7_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 7 (SLC10A7), transcript variant 2, mRNA. 158 integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1) 16 all_hematologic(180;0.151) ATGAACCAAGCTGTAAAACAA 0.348000 17 8 0 0 1 0 0 SDPR 8436 broad.mit.edu 37 2 192701141 192701141 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:192701141G>A uc002utb.3 - 1 1141 c.786C>T c.(784-786)atC>atT p.I262I NM_004657 NP_004648 O95810 SDPR_HUMAN Homo sapiens serum deprivation response (SDPR), mRNA. 262 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) CTACAGATACGATCTTTGTCC 0.418000 131 71 0 0 1 0 0 WBP2NL 164684 broad.mit.edu 37 22 42422929 42422929 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:42422929G>A uc003bbt.3 + 5 768 c.674G>A c.(673-675)gGa>gAa p.G225E WBP2NL_uc011apk.2_Missense_Mutation_p.G97E|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_Non-coding_Transcript NM_152613 NP_689826 Q6ICG8 WBP2L_HUMAN Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA. 225 10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich. egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 CTTGGATACGGAGCCCCACCT 0.597000 773 145 0 0 1 0 0 BMP2 650 broad.mit.edu 37 20 6759677 6759677 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:6759677G>A uc002wmu.1 + 2 1917 c.1132G>A c.(1132-1134)Gaa>Aaa p.E378K NM_001200 NP_001191 P12643 BMP2_HUMAN Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA. 378 BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter extracellular space BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) TGACGAGAATGAAAAGGTTGT 0.383000 31 15 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156883785 156883785 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr1:156883785G>A uc001fqj.1 + 21 2971 c.2855G>A c.(2854-2856)gGa>gAa p.G952E PEAR1_uc001fqk.1_Missense_Mutation_p.G577E NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA. 952 Pro-rich. integral to membrane p.G952E(2) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCTCCCTCAGGATCTCCCCCC 0.662000 18 10 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137488356 137488356 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:137488356C>T uc003lcf.1 - 20 2726 c.2671G>A c.(2671-2673)Gac>Aac p.D891N NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA. 891 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter NuA4 histone acetyltransferase complex|mitochondrion sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AGACTGGAGTCCCATGAGCTG 0.512000 386 8 0 0 1 0 0 FERMT1 55612 broad.mit.edu 37 20 6093246 6093246 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr20:6093246G>A uc002wmr.3 - 3 1199 c.410C>T c.(409-411)tCc>tTc p.S137F FERMT1_uc010gbt.3_5'UTR|FERMT1_uc002wms.3_Missense_Mutation_p.S137F NM_017671 NP_060141 Q9BQL6 FERM1_HUMAN Homo sapiens fermitin family member 1 (FERMT1), mRNA. 137 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 CTTTAACAAGGAAAGCTCTTC 0.299000 31 10 0 0 1 0 0 BTN2A1 11120 broad.mit.edu 37 6 26465589 26465589 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:26465589C>T uc003nib.2 + 4 1137 c.889C>T c.(889-891)Ctg>Ttg p.L297L BTN2A1_uc021yni.1_Silent_p.L297L|BTN2A1_uc003nic.2_Silent_p.L297L|BTN2A1_uc011dko.2_Silent_p.L236L NM_007049 NP_001184162 Q7KYR7 BT2A1_HUMAN Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA. 297 lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 TCTAAAGGAACTGGAGAAAGA 0.428000 89 27 0 0 1 0 0 WDR82 80335 broad.mit.edu 37 3 52292613 52292614 + Missense_Mutation DNP GG AA AA TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:52292613_52292614GG>AA uc003ddl.2 - 7 1132_1133 c.850_851CC>TT c.(850-852)ccg>TTg p.P284L WDR82_uc003ddk.2_Missense_Mutation_p.P209L NM_025222 NP_079498 Q6UXN9 WDR82_HUMAN Homo sapiens WD repeat domain 82 (WDR82), mRNA. 284 histone H3-K4 methylation PTW/PP1 phosphatase complex|Set1C/COMPASS complex|chromatin protein binding BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246) ACAGGTAATCGGGCCTGTGTGT 0.465000 88 40 0 0 1 0 0 MAN1A1 4121 broad.mit.edu 37 6 119501481 119501481 + Missense_Mutation SNP A T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:119501481A>T uc003pym.1 - 11 2273 c.1831T>A c.(1831-1833)Ttg>Atg p.L611M NM_005907 NP_005898 P33908 MA1A1_HUMAN Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA. 611 post-translational protein modification|protein N-linked glycosylation via asparagine ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) ACCTACTTCAATGTCTCTGCC 0.388000 21 18 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129861391 129861391 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:129861391G>A uc009yat.3 + 10 1120 c.703G>A c.(703-705)Gag>Aag p.E235K PTPRE_uc001lkb.3_Missense_Mutation_p.E224K|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Missense_Mutation_p.E224K|PTPRE_uc001lkd.3_Missense_Mutation_p.E166K|PTPRE_uc010quq.1_Missense_Mutation_p.E125K NM_006504 NP_006495 P23469 PTPRE_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA. 224 Tyrosine-protein phosphatase 1. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) AATGGTCTGGGAGCAAAAGTC 0.488000 18 6 0 0 1 0 0 FKBP8 23770 broad.mit.edu 37 19 18652761 18652761 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:18652761G>A uc002njk.1 - 1 133 c.20C>T c.(19-21)cCc>cTc p.P7L FKBP8_uc010xqi.1_Missense_Mutation_p.P36L|FKBP8_uc002njj.1_Missense_Mutation_p.P7L|FKBP8_uc021uqp.1_Missense_Mutation_p.P7L NM_012181 NP_036313 Q14318 FKBP8_HUMAN Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA. 7 apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15 GGGCTCAGAGGGTTCAGCACA 0.627000 27 5 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126137025 126137025 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:126137025G>A uc001uhe.1 + 7 1946 c.1938G>A c.(1936-1938)aaG>aaA p.K646K TMEM132B_uc001uhf.1_Silent_p.K158K NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 646 integral to membrane p.K646Q(1) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TGGCTGAGAAGACGGTGATTG 0.557000 21 19 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52406053 52406053 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:52406053C>T uc011bef.2 + 41 6878 c.6617C>T c.(6616-6618)aCc>aTc p.T2206I NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 2206 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACCATGGACACCGTGCAGATG 0.562000 71 31 0 0 1 0 0 FRRS1L 23732 broad.mit.edu 37 9 111903728 111903728 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr9:111903728C>T uc004bdw.1 - 3 757 c.757G>A c.(757-759)Gtc>Atc p.V253I NM_014334 NP_055149 Q9P0K9 CI004_HUMAN Homo sapiens chromosome 9 open reading frame 4 (C9orf4), mRNA. 253 DOMON. integral to membrane CTGCAGGTGACGCGATTGTTC 0.458000 86 16 0 0 1 0 0 TACC3 10460 broad.mit.edu 37 4 1730378 1730378 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:1730378C>T uc003gdo.3 + 3 1404 c.1249C>T c.(1249-1251)Ccg>Tcg p.P417S TACC3_uc010ibz.3_Missense_Mutation_p.P417S|TACC3_uc003gdp.3_Intron NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA. 417 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) AAACTTCATCCCGTTCGGAGG 0.622000 75 40 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 30143027 30143027 + Nonsense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:30143027G>A uc002rmy.3 - 0 1451 c.499C>T c.(499-501)Cag>Tag p.Q167* NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 167 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) AGATTGAACTGGAGCAGCCCC 0.657000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 47 8 0 0 1 0 0 CETN1 1068 broad.mit.edu 37 18 580618 580618 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:580618G>A uc002kko.1 + 0 250 c.210G>A c.(208-210)aaG>aaA p.K70K NM_004066 NP_004057 Q12798 CETN1_HUMAN Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA. 70 EF-hand 2. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 AAGAGATGAAGAAAATGATCT 0.557000 15 12 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24923366 24923366 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr15:24923366C>T uc001ywo.3 + 0 2826 c.2352C>T c.(2350-2352)acC>acT p.T784T NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 784 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) AGCAGAAAACCTCTCTCCCCA 0.547000 140 45 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48248379 48248379 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr18:48248379G>A uc002lev.3 + 3 1763 c.763G>A c.(763-765)Gag>Aag p.E255K MAPK4_uc010xdm.2_Missense_Mutation_p.E44K|MAPK4_uc010doz.3_Intron NM_002747 NP_002738 P31152 MK04_HUMAN Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA. 255 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) AGACAAGGACGAGCTGCTCAG 0.577000 32 5 0 0 1 0 0 GJB6 10804 broad.mit.edu 37 13 20797527 20797527 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr13:20797527G>A uc001und.4 - 2 480 c.93C>T c.(91-93)ttC>ttT p.F31F GJB6_uc001umz.4_Silent_p.F31F|GJB6_uc001unb.4_Silent_p.F31F|GJB6_uc001unc.4_Silent_p.F31F|GJB6_uc001una.4_Silent_p.F31F|GJB6_uc021rhb.1_Silent_p.F31F NM_001110221 NP_006774 O95452 CXB6_HUMAN Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA. 31 cell communication|sensory perception of sound connexon complex|integral to membrane|intracellular membrane-bounded organelle biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 9 all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744) TCATGACTCGGAAAATAAAGA 0.542000 84 42 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40657008 40657008 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr2:40657008G>A uc002rrx.3 - 0 437 c.413C>T c.(412-414)aCc>aTc p.T138I SLC8A1_uc002rry.3_Missense_Mutation_p.T138I|SLC8A1_uc002rsb.2_Missense_Mutation_p.T138I|SLC8A1_uc002rrz.3_Missense_Mutation_p.T138I|SLC8A1_uc002rsa.3_Missense_Mutation_p.T138I|SLC8A1_uc002rsd.4_Missense_Mutation_p.T138I|SLC8A1_uc010fan.1_Missense_Mutation_p.T138I|SLC8A1_uc002rsc.1_Missense_Mutation_p.T138I NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 138 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GGCCATCAAGGTCAGGTTAGA 0.453000 55 31 0 0 1 0 0 NARFL 64428 broad.mit.edu 37 16 787312 787312 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:787312C>T uc002cjr.3 - 2 192 c.180G>A c.(178-180)agG>agA p.R60R NARFL_uc002cjp.3_5'UTR|NARFL_uc002cjq.3_5'UTR|NARFL_uc021tab.1_Non-coding_Transcript|NARFL_uc010brc.1_Silent_p.R60R|NARFL_uc010uur.1_Silent_p.R60R NM_022493 NP_071938 Q9H6Q4 NARFL_HUMAN Homo sapiens nuclear prelamin A recognition factor-like (NARFL), mRNA. 60 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding autonomic_ganglia(1)|large_intestine(1)|lung(7) 9 Hepatocellular(780;0.0218) CCTTCTCCAGCCTCCGGGTCC 0.627000 92 17 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7633767 7633767 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:7633767C>T uc001qsz.3 - 14 3461 c.3333G>A c.(3331-3333)atG>atA p.M1111I CD163_uc001qta.3_Missense_Mutation_p.M1111I|CD163_uc009zfw.2_Missense_Mutation_p.M1144I NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 1111 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 CTGAGGAATTCATTAGGTCCA 0.448000 58 25 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35991267 35991267 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr5:35991267G>A uc003jjv.2 - 0 269 c.76C>T c.(76-78)Ctg>Ttg p.L26L UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.L26L|UGT3A1_uc011cor.2_Silent_p.L26L|UGT3A1_uc003jjy.2_Intron NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 26 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GATATTGTCAGGATTTTGGCA 0.592000 82 50 0 0 1 0 0 SKIL 6498 broad.mit.edu 37 3 170102423 170102423 + Silent SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr3:170102423C>T uc003fgu.3 + 3 2011 c.1299C>T c.(1297-1299)tcC>tcT p.S433S SKIL_uc011bps.2_Silent_p.S413S|SKIL_uc003fgv.3_Intron|SKIL_uc003fgw.3_Silent_p.S433S NM_005414 NP_005405 P12757 SKIL_HUMAN Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA. 433 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development PML body|cytoplasm SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) CAAGTAAGTCCATATCAAGAC 0.403000 84 21 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7671530 7671530 + Missense_Mutation SNP T C C TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr17:7671530T>C uc002giu.1 + 22 3900 c.3886T>C c.(3886-3888)Ttc>Ctc p.F1296L NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 1296 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AATAGAGCAGTTCAAGAGGAC 0.557000 86 61 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46230641 46230641 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:46230641C>T uc001ros.1 + 7 890 c.890C>T c.(889-891)tCc>tTc p.S297F ARID2_uc001ror.3_Missense_Mutation_p.S297F|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 297 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AGAAATCTTTCCTTTGAGGAG 0.398000 """N, S, F""" hepatocellular carcinoma 55 16 0 0 1 0 0 ZNF324 25799 broad.mit.edu 37 19 58983452 58983452 + Silent SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr19:58983452G>A uc002qsw.2 + 3 1738 c.1593G>A c.(1591-1593)gcG>gcA p.A531A NM_014347 NP_055162 O75467 Z324A_HUMAN Homo sapiens zinc finger protein 324 (ZNF324), mRNA. 531 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CAGAAGGTGCGCCAGCGAAGG 0.677000 66 4 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116757505 116757505 + Missense_Mutation SNP G A A TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr6:116757505G>A uc011ebg.2 + 5 2030 c.1931G>A c.(1930-1932)aGc>aAc p.S644N DSE_uc003pws.3_Missense_Mutation_p.S625N|DSE_uc003pwt.3_Missense_Mutation_p.S625N|DSE_uc003pwu.3_Missense_Mutation_p.S292N NM_013352 NP_037484 Q9UL01 DSE_HUMAN Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA. 625 dermatan sulfate biosynthetic process Golgi apparatus|endoplasmic reticulum|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) ACTGGCTACAGCGAGAAAGCA 0.493000 52 32 0 0 1 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69100279 69100279 + Missense_Mutation SNP C T T TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:69100279C>T uc003hdw.4 - 4 507 c.371G>A c.(370-372)gGa>gAa p.G124E NM_182502 NP_872308 Q86T26 TM11B_HUMAN Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA. 124 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 CATGCTAACTCCTTCTGCTGG 0.388000 48 18 0 0 1 0 0 ADD1 118 broad.mit.edu 37 4 2901108 2901108 + Frame_Shift_Del DEL G - - TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr4:2901108delG uc003gfq.3 + 8 1295 c.1107delG c.(1105-1107)aagfs p.K369fs ADD1_uc010ico.1_Frame_Shift_Del_p.K369fs|ADD1_uc003gfo.3_Frame_Shift_Del_p.K369fs|ADD1_uc003gfp.3_Frame_Shift_Del_p.K369fs|ADD1_uc003gfr.3_Frame_Shift_Del_p.K369fs|ADD1_uc003gfs.3_Frame_Shift_Del_p.K369fs|ADD1_uc003gft.3_Frame_Shift_Del_p.K369fs|ADD1_uc003gfu.3_3'UTR NM_014189 NP_054908 P35611 ADDA_HUMAN Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA. 369 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding F-actin capping protein complex|cytosol|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CGCCTCCCAAGTGGCAGATTG 0.507 --- 37 --- --- 13 --- SIRT1 23411 broad.mit.edu 37 10 69644881 69644883 + In_Frame_Del DEL GGC - - rs36062014 TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr10:69644881_69644883delGGC uc001jnd.3 + 0 455_457 c.402_404delGGC c.(400-405)gaggcg>gag p.A139del SIRT1_uc010qis.2_5'Flank|SIRT1_uc009xpp.3_5'Flank NM_012238 NP_001135970 Q96EB6 SIRT1_HUMAN Homo sapiens sirtuin 1 (SIRT1), transcript variant 1, mRNA. 139 Interaction with HIST1H1E. DNA repair|DNA replication|apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of DNA repair|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|rRNA processing|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation PML body|chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|rDNA heterochromatin HLH domain binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|bHLH transcription factor binding|histone binding|identical protein binding|mitogen-activated protein kinase binding|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 14 aggaggaagaggcggcggcggcg 0.700 --- 4 --- --- 2 --- PHC1 1911 broad.mit.edu 37 12 9085271 9085272 + Frame_Shift_Del DEL GT - - TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:9085271_9085272delGT uc001qvd.3 + 7 1374_1375 c.1218_1219delGT c.(1216-1221)cagttcfs p.Q406fs PHC1_uc001qvc.1_Frame_Shift_Del_p.Q361fs|PHC1_uc010sgn.1_Frame_Shift_Del_p.Q406fs|PHC1_uc001qve.3_Frame_Shift_Del_p.Q406fs NM_004426 NP_004417 P78364 PHC1_HUMAN Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA. 406 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 ACCAGCAGCAGTTCCAGCACCG 0.574 --- 102 --- --- 21 --- SFSWAP 6433 broad.mit.edu 37 12 132211599 132211599 + Splice_Site DEL T - - TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr12:132211599delT uc001uja.1 + 6 1085 c.945_splice c.e6+2 p.K315_splice SFSWAP_uc010tbn.1_Splice_Site_p.K315_splice|SFSWAP_uc001ujb.1_Splice_Site_p.K108_splice|SFSWAP_uc001uiz.1_Splice_Site_p.K189_splice NM_004592 NP_004583 Q12872 SFSWA_HUMAN Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA. 315 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 CTGATGAAGGTTTTTATCTCA 0.368 --- 16 --- --- 8 --- PDILT 204474 broad.mit.edu 37 16 20370700 20370702 + In_Frame_Del DEL CCA - - TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr16:20370700_20370702delCCA uc002dhc.1 - 11 1917_1919 c.1694_1696delTGG c.(1693-1698)gtggct>gct p.V565del NM_174924 NP_777584 Q8N807 PDILT_HUMAN Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA. 565 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TTTGGCTTAGCCACCACCACCAC 0.478 --- 183 --- --- 7 --- TCF20 6942 broad.mit.edu 37 22 42605990 42605992 + In_Frame_Del DEL CTG - - TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:42605990_42605992delCTG uc003bcj.1 - 0 5454_5456 c.5320_5322delCAG c.(5320-5322)cagdel p.Q1774del TCF20_uc003bck.1_In_Frame_Del_p.Q1774del NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA. 1774 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 TCTGCTCCTTCTGCTGCTGCTGC 0.601 --- 561 --- --- 7 --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG - - TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chr22:42610573_42610575delAGG uc003bcj.1 - 0 871_873 c.737_739delCCT c.(736-741)tccttc>ttc p.S246del TCF20_uc003bck.1_In_Frame_Del_p.S246del NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA. 246 Ser-rich. 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 GGTGAAGGGAaggaggaggagga 0.507 --- 366 --- --- 7 --- ZFX 7543 broad.mit.edu 37 X 24228894 24228894 + Frame_Shift_Del DEL T - - TCGA-BF-A5EQ-01A-21D-A27K-08 TCGA-BF-A5EQ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4330b5ee-2768-4a70-bd3d-fb56621c6789 f02eb59b-4658-445e-a886-a9b8e40d630c g.chrX:24228894delT uc011mjv.2 + 9 2185 c.1936delT c.(1936-1938)tgtfs p.C646fs ZFX_uc004dbd.2_Frame_Shift_Del_p.C607fs|ZFX_uc004dbf.3_Frame_Shift_Del_p.C607fs|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Frame_Shift_Del_p.C607fs|ZFX_uc010nfx.2_Frame_Shift_Del_p.C378fs|ZFX_uc010nfz.3_Frame_Shift_Del_p.C263fs NM_001178086 NP_001171557 P17010 ZFX_HUMAN Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA. 607 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 GCCATTCAAGTGTGACATTTG 0.433 --- 17 --- --- 23 ---