Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut DPAGT1 1798 broad.mit.edu 37 11 118967807 118967807 + Silent SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr11:118967807G>A ENST00000432443.2 - 7 1307 c.885C>T c.(883-885)tgC>tgT p.C295C DPAGT1_ENST00000409993.2_Intron|DPAGT1_ENST00000354202.4_Intron Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 385 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) TAAGAATCACGCAGAAAGGGA 0.502000 3 62 0 0 0.115264 0 0 GABRB3 2562 broad.mit.edu 37 15 27184436 27184436 + Nonsense_Mutation SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr15:27184436G>A ENST00000541819.2 - 1 250 c.148C>T c.(148-150)Cga>Tga p.R50* GABRA5_ENST00000335625.5_Intron|GABRA5_ENST00000355395.5_Intron|GABRA5_ENST00000400081.3_Intron P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 0 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGGTCTCCTCGTGCCTCCCAC 0.582000 18 41 0 0 0.557998 0 0 RNF130 55819 broad.mit.edu 37 5 179393883 179393883 + Missense_Mutation SNP C C T TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr5:179393883C>T ENST00000522208.2 - 7 1091 c.1073G>A c.(1072-1074)cGa>cAa p.R358Q RNF130_ENST00000261947.4_Missense_Mutation_p.R358Q|RNF130_ENST00000521389.1_Missense_Mutation_p.R358Q Q86XS8 GOLI_HUMAN ring finger protein 130 358 apoptosis cytoplasm|integral to membrane|nucleus ubiquitin-protein ligase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 17 all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212) all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCCGAAGTTCGAAGTGGCTC 0.562000 12 49 0 0 0.411799 0 0 CCDC108 255101 broad.mit.edu 37 2 219868992 219868992 + Missense_Mutation SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr2:219868992G>A ENST00000341552.5 - 33 5320 c.5237C>T c.(5236-5238)cCg>cTg p.P1746L CCDC108_ENST00000453220.1_Missense_Mutation_p.P1746L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1746L|AC097468.4_ENST00000441450.1_RNA NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1746 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTCTTCCTTCGGCTGCTTGCC 0.532000 29 66 0 0 0.717897 0 0 FAM83B 222584 broad.mit.edu 37 6 54735366 54735366 + Missense_Mutation SNP T T C TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr6:54735366T>C ENST00000306858.7 + 2 438 c.322T>C c.(322-324)Tgg>Cgg p.W108R NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 108 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) TGACTTAGGCTGGCCATATGT 0.458000 23 83 0 0 0.624587 0 0 AGA 175 broad.mit.edu 37 4 178361475 178361475 + Missense_Mutation SNP C C T TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr4:178361475C>T ENST00000264595.2 - 2 360 c.233G>A c.(232-234)aGt>aAt p.S78N AGA_ENST00000506853.1_5'UTR NM_000027.3|NM_001171988.1 NP_000018.2|NP_001165459.1 P20933 ASPG_HUMAN aspartylglucosaminidase 78 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2) 16 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) TTCATCAGGACTTCCTCCAAA 0.493000 27 85 0 0 0.729181 0 0 GABRA1 2554 broad.mit.edu 37 5 161324340 161324340 + Missense_Mutation SNP C C T TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr5:161324340C>T ENST00000428797.2 + 11 1638 c.1283C>T c.(1282-1284)cCg>cTg p.P428L GABRA1_ENST00000444819.1_Missense_Mutation_p.P428L|GABRA1_ENST00000393943.4_Missense_Mutation_p.P428L|GABRA1_ENST00000023897.6_Missense_Mutation_p.P428L|GABRA1_ENST00000437025.2_Missense_Mutation_p.P428L|GABRA1_ENST00000420560.1_Missense_Mutation_p.P428L NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 428 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) ATAGCCTTCCCGCTGCTATTT 0.423000 34 78 0 0 0.750413 0 0 SNPH 9751 broad.mit.edu 37 20 1286246 1286246 + Missense_Mutation SNP G G T rs140720029 TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr20:1286246G>T ENST00000381867.1 + 7 1807 c.1165G>T c.(1165-1167)Ggg>Tgg p.G389W SNPH_ENST00000381873.3_Missense_Mutation_p.G345W O15079 SNPH_HUMAN syntaphilin 345 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 CCCTGAGTCAGGGGACAGGTG 0.622000 4 91 0.00909568 0.00948 0.150653 1 0 RECK 8434 broad.mit.edu 37 9 36102223 36102223 + Nonsense_Mutation SNP C C A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr9:36102223C>A ENST00000377966.3 + 12 1997 c.1431C>A c.(1429-1431)taC>taA p.Y477* NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 477 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) TGGATACATACCTCAGTAAGT 0.343000 9 50 3.86212e-05 4.20289e-05 0.361761 1 0 RFX6 222546 broad.mit.edu 37 6 117248565 117248565 + Missense_Mutation SNP C C T TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr6:117248565C>T ENST00000332958.2 + 17 2277 c.2261C>T c.(2260-2262)cCg>cTg p.P754L NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 754 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TCCCGGCCACCGTCTAGCTAT 0.517000 7 35 0 0 0.278610 0 0 EDN2 1907 broad.mit.edu 37 1 41948222 41948222 + Missense_Mutation SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr1:41948222G>A ENST00000372587.4 - 3 328 c.259C>T c.(259-261)Cgc>Tgc p.R87C EDN2_ENST00000490783.1_5'UTR NM_001956.3 NP_001947.1 P20800 EDN2_HUMAN endothelin 2 87 artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space endothelin B receptor binding|hormone activity endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 8 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGGCGCCGGCGTCTTGGCGGG 0.642000 9 24 0 0 0.307466 0 0 CXorf57 55086 broad.mit.edu 37 X 105855370 105855370 + Silent SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chrX:105855370G>A ENST00000372548.4 + 1 169 c.60G>A c.(58-60)ccG>ccA p.P20P CXorf57_ENST00000372544.2_Silent_p.P20P NM_018015.5 NP_060485.4 Q6NSI4 CX057_HUMAN chromosome X open reading frame 57 20 p.P20P(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 31 TAGATTGGCCGAACCCTGAGA 0.572000 27 85 0 0 0.681144 0 0 CEP128 145508 broad.mit.edu 37 14 81329142 81329142 + Missense_Mutation SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr14:81329142G>A ENST00000555265.1 - 9 1096 c.721C>T c.(721-723)Cgc>Tgc p.R241C CEP128_ENST00000216517.6_Missense_Mutation_p.R241C|CEP128_ENST00000281129.3_Missense_Mutation_p.R241C Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 241 centriole|spindle pole p.R241C(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 TGATCCTGGCGTCTTTCCACC 0.463000 18 68 0 0 0.557998 0 0 OR10J3 441911 broad.mit.edu 37 1 159283478 159283478 + Silent SNP C C T TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr1:159283478C>T ENST00000332217.5 - 1 971 c.972G>A c.(970-972)gcG>gcA p.A324A NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 324 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A324A(1) breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) TATTTATAAACGCAAAGGAAA 0.398000 7 60 0 0 0.248553 0 0 RIPK4 54101 broad.mit.edu 37 21 43161994 43161994 + Silent SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr21:43161994G>A ENST00000352483.2 - 9 1567 c.1503C>T c.(1501-1503)tgC>tgT p.C501C RIPK4_ENST00000544709.1_Silent_p.C390C|RIPK4_ENST00000332512.3_Silent_p.C453C|RIPK4_ENST00000542057.1_Silent_p.C390C Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 453 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.C453C(1) NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GCCACTTGGCGCACTCCTCTT 0.657000 31 69 0 0 0.779181 0 0 PNMA5 114824 broad.mit.edu 37 X 152159963 152159963 + Silent SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chrX:152159963G>A ENST00000439251.1 - 2 618 c.180C>T c.(178-180)gaC>gaT p.D60D PNMA5_ENST00000452693.1_Silent_p.D60D|PNMA5_ENST00000361887.5_Silent_p.D60D|PNMA5_ENST00000535214.1_Silent_p.D60D NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 60 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) ccttggcattgtcttccctcc 0.522000 44 106 0 0 0.840704 0 0 MUC16 94025 broad.mit.edu 37 19 9046352 9046352 + Missense_Mutation SNP G G T TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr19:9046352G>T ENST00000397910.4 - 5 35482 c.35279C>A c.(35278-35280)aCt>aAt p.T11760N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11762 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 ATGAGTCAAAGTTGGAACAGT 0.478000 14 69 1.5842e-08 1.77622e-08 0.435327 1 0 SAGE1 55511 broad.mit.edu 37 X 134994995 134994995 + Missense_Mutation SNP C C T rs139129211 by1000genomes TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chrX:134994995C>T ENST00000535938.1 + 20 2821 c.2654C>T c.(2653-2655)gCg>gTg p.A885V SAGE1_ENST00000370709.3_Missense_Mutation_p.A885V|SAGE1_ENST00000537770.1_Missense_Mutation_p.A509V|SAGE1_ENST00000324447.3_Missense_Mutation_p.A885V NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 885 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) CTCGAGAAGGCGCTTAAAGAA 0.368000 7 31 0 0 0.248553 0 0 ZNF518B 85460 broad.mit.edu 37 4 10445887 10445887 + Missense_Mutation SNP C C T TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr4:10445887C>T ENST00000326756.3 - 3 2504 c.2066G>A c.(2065-2067)cGt>cAt p.R689H NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 689 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 TACAGAGCGACGATGTGCACT 0.448000 22 94 0 0 0.592651 0 0 PRAME 23532 broad.mit.edu 37 22 22899234 22899234 + Missense_Mutation SNP A A G rs2266988 byFrequency TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr22:22899234A>G ENST00000543184.1 - 2 881 c.19T>C c.(19-21)Tgg>Cgg p.W7R PRAME_ENST00000398741.1_Missense_Mutation_p.W7R|PRAME_ENST00000405655.3_Missense_Mutation_p.W7R|PRAME_ENST00000402697.1_Missense_Mutation_p.W7R|PRAME_ENST00000406503.1_Missense_Mutation_p.W7R|PRAME_ENST00000398743.2_Missense_Mutation_p.W7R NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 7 W -> R (in dbSNP:rs2266988). apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding p.W7R(2) autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) CTTCTTACCCACAAACGCCTT 0.562000 3 152 0 0 0.115264 0 0 ZNF282 8427 broad.mit.edu 37 7 148910879 148910879 + Missense_Mutation SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr7:148910879G>A ENST00000262085.3 + 7 1258 c.1153G>A c.(1153-1155)Gga>Aga p.G385R ZNF282_ENST00000479907.1_Missense_Mutation_p.G385R NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 385 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CTCAATGGACGGAGAGCTTGG 0.542000 3 30 0 0 0.115264 0 0 A2ML1 144568 broad.mit.edu 37 12 9004550 9004550 + Missense_Mutation SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr12:9004550G>A ENST00000299698.7 + 19 2585 c.2405G>A c.(2404-2406)cGt>cAt p.R802H A2ML1_ENST00000539547.1_Missense_Mutation_p.R311H NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 646 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TCAGTAGTCCGTGGGGAATCC 0.502000 28 93 0 0 0.769981 0 0 RRAS2 22800 broad.mit.edu 37 11 14303174 14303174 + Silent SNP A A C TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr11:14303174A>C ENST00000545643.1 - 5 832 c.519T>G c.(517-519)gcT>gcG p.A173A RRAS2_ENST00000537760.1_Silent_p.A132A|RRAS2_ENST00000529237.1_Silent_p.A90A|RRAS2_ENST00000256196.4_Silent_p.A167A|RRAS2_ENST00000532814.1_Silent_p.A90A|RRAS2_ENST00000534746.1_Silent_p.A90A|RRAS2_ENST00000414023.2_Silent_p.A90A|RRAS2_ENST00000526063.1_Silent_p.A90A NM_012250.5 NP_036382.2 P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 167 endoplasmic reticulum|plasma membrane GTP binding|GTPase activity|protein binding breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 12 Epithelial(150;0.203) GTTCATGGAAAGCTTGATCTA 0.348000 18 64 0 0 0.557998 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965634 88965634 + Missense_Mutation SNP A A G TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr7:88965634A>G ENST00000333190.4 + 4 3947 c.3338A>G c.(3337-3339)aAt>aGt p.N1113S NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1113 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GTAGAGGGAAATATAAACTCT 0.353000 HNSCC(36;0.09) 16 68 0 0 0.479597 0 0 OR2L8 391190 broad.mit.edu 37 1 248112581 248112581 + Missense_Mutation SNP T T A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr1:248112581T>A ENST00000357191.3 + 1 422 c.422T>A c.(421-423)gTg>gAg p.V141E OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) AGAGTGTGTGTGCTGATGATA 0.448000 49 133 0 0 0.870114 0 0 MXRA5 25878 broad.mit.edu 37 X 3228242 3228242 + Missense_Mutation SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chrX:3228242G>A ENST00000217939.6 - 7 8156 c.8002C>T c.(8002-8004)Cgt>Tgt p.R2668C NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2668 Ig-like C2-type 11. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CAGGAGAAACGTCCCTGCCCA 0.592000 29 56 0 0 0.750413 0 0 KRT3 3850 broad.mit.edu 37 12 53187985 53187985 + Missense_Mutation SNP C C T TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr12:53187985C>T ENST00000417996.2 - 2 850 c.776G>A c.(775-777)cGg>cAg p.R259Q KRT3_ENST00000309505.3_Missense_Mutation_p.R259Q NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 259 Coil 1B.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 CAGGTAGCTCCGCAGGTAGTT 0.532000 29 111 0 0 0.740014 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 3 20 0 0 0.150653 0 0 RNF32 140545 broad.mit.edu 37 7 156437272 156437272 + Missense_Mutation SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr7:156437272G>A ENST00000392741.2 + 2 183 c.95G>A c.(94-96)cGa>cAa p.R32Q RNF32_ENST00000432459.2_Missense_Mutation_p.R32Q|RNF32_ENST00000311822.8_Missense_Mutation_p.R32Q|RNF32_ENST00000405335.1_Missense_Mutation_p.R32Q|RNF32_ENST00000392740.1_Missense_Mutation_p.R32Q|RNF32_ENST00000392743.2_Missense_Mutation_p.R32Q|RNF32_ENST00000343665.4_Missense_Mutation_p.R32Q|RNF32_ENST00000317955.5_Missense_Mutation_p.R32Q Q9H0A6 RNF32_HUMAN ring finger protein 32 32 aggresome|endosome protein binding|zinc ion binding cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2) 15 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) CTTCAACTTCGAAATCTTTCA 0.328000 12 40 0 0 0.387290 0 0 KALRN 8997 broad.mit.edu 37 3 124393414 124393414 + Silent SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr3:124393414G>A ENST00000360013.3 + 49 7273 c.7146G>A c.(7144-7146)gcG>gcA p.A2382A KALRN_ENST00000459915.1_Silent_p.A473A|KALRN_ENST00000291478.4_Silent_p.A685A|KALRN_ENST00000428018.2_Silent_p.A653A|KALRN_ENST00000393496.1_Silent_p.A722A NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2381 SH3 2. 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|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor 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 GCATCCTGGCGCCCCTCACCA 0.592000 3 15 0 0 0.150653 0 0 LIG4 3981 broad.mit.edu 37 13 108863573 108863573 + Missense_Mutation SNP G G C TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr13:108863573G>C ENST00000356922.4 - 2 316 c.44C>G c.(43-45)cCt>cGt p.P15R LIG4_ENST00000405925.1_Missense_Mutation_p.P15R|LIG4_ENST00000442234.1_Missense_Mutation_p.P15R NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 15 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) ATCTGCAAAAGGAACGTGAGA 0.358000 Non-homologous end-joining 12 48 0 0 0.411799 0 0 LPA 4018 broad.mit.edu 37 6 161006128 161006128 + Silent SNP C C T TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr6:161006128C>T ENST00000447678.1 - 27 4359 c.4239G>A c.(4237-4239)tcG>tcA p.S1413S LPA_ENST00000316300.5_Silent_p.S1413S NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3921 Kringle 13. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity p.S1413S(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GTGTCATAGACGACCAAGACT 0.448000 31 143 0 0 0.717897 0 0 HEATR1 55127 broad.mit.edu 37 1 236766587 236766587 + Missense_Mutation SNP C C G TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr1:236766587C>G ENST00000366582.3 - 3 346 c.232G>C c.(232-234)Gag>Cag p.E78Q HEATR1_ENST00000366579.1_Missense_Mutation_p.E78Q|HEATR1_ENST00000366581.2_Missense_Mutation_p.E78Q NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 78 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) ACACTTCGCTCCAAGGTTTTT 0.418000 14 48 0 0 0.479597 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37729072 37729072 + Missense_Mutation SNP G G T rs146365728 TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr8:37729072G>T ENST00000330843.4 - 4 3260 c.3248C>A c.(3247-3249)cCa>cAa p.P1083Q RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 1083 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) AGGCGGGCTTGGACTCCCATT 0.542000 OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 60 186 1.34159e-35 1.52735e-35 0.870114 1 0 SNX7 51375 broad.mit.edu 37 1 99157205 99157205 + Missense_Mutation SNP A A G TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr1:99157205A>G ENST00000370189.5 + 5 761 c.397A>G c.(397-399)Act>Gct p.T133A SNX7_ENST00000529992.1_Intron|SNX7_ENST00000306121.3_Missense_Mutation_p.T197A Q9UNH6 SNX7_HUMAN sorting nexin 7 133 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) TGATCATCCAACTTTAACATT 0.328000 11 43 0 0 0.361761 0 0 TRIM69 0 broad.mit.edu 37 15 45050860 45050860 + Silent SNP T T C TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr15:45050860T>C ENST00000558173.1 + 2 4754 c.9T>C c.(7-9)ttT>ttC p.F3F TRIM69_ENST00000560442.1_Silent_p.F3F|TRIM69_ENST00000338264.4_Silent_p.F48F|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000559390.1_Silent_p.F207F|TRIM69_ENST00000558329.1_Silent_p.F3F|TRIM69_ENST00000329464.4_Silent_p.F207F Q86WT6 TRI69_HUMAN tripartite motif containing 69 207 Necessary for nuclear localization (By similarity). apoptosis nuclear speck zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1) 20 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) CCATGGAGTTTCTAAAGCTGC 0.463000 14 37 0 0 0.479597 0 0 PDHA1 5160 broad.mit.edu 37 X 19369427 19369427 + Missense_Mutation SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chrX:19369427G>A ENST00000379806.5 + 5 579 c.434G>A c.(433-435)gGc>gAc p.G145D PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D|PDHA1_ENST00000422285.2_Missense_Mutation_p.G107D NM_001173454.1 NP_001166925.1 P08559 ODPA_HUMAN pyruvate dehydrogenase (lipoamide) alpha 1 107 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1) 18 Hepatocellular(33;0.183) NADH(DB00157) CTGGAGGCCGGCATCAACCCC 0.507000 4 114 0 0 0.184627 0 0 FANCE 2178 broad.mit.edu 37 6 35427183 35427183 + Missense_Mutation SNP C C A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr6:35427183C>A ENST00000229769.2 + 6 1374 c.1189C>A c.(1189-1191)Cct>Act p.P397T NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 397 DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 ATATACATACCCTGTCTGCAG 0.567000 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 4 58 0.00909568 0.00948 0.150653 1 0 PPP1R17 10842 broad.mit.edu 37 7 31746856 31746856 + Missense_Mutation SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr7:31746856G>A ENST00000342032.3 + 5 1055 c.427G>A c.(427-429)Gtg>Atg p.V143M PPP1R17_ENST00000498609.1_3'UTR|PPP1R17_ENST00000409146.3_Missense_Mutation_p.V92M NM_006658.4 NP_006649.2 O96001 GSUB_HUMAN protein phosphatase 1, regulatory subunit 17 143 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction p.V143M(1) CAAAGCAATCGTGGAAGATGA 0.433000 6 27 0 0 0.217242 0 0 C1orf158 93190 broad.mit.edu 37 1 12820859 12820859 + Missense_Mutation SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr1:12820859G>A ENST00000288048.5 + 4 776 c.560G>A c.(559-561)cGc>cAc p.R187H C1orf158_ENST00000376210.3_Missense_Mutation_p.R149H NM_152290.2 NP_689503.2 Q8N1D5 CA158_HUMAN chromosome 1 open reading frame 158 187 p.R187P(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) CCTCCCCATCGCCTGCATCCT 0.577000 7 35 0 0 0.278610 0 0 SLC45A3 85414 broad.mit.edu 37 1 205628648 205628648 + Missense_Mutation SNP G G A rs140263007 byFrequency TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr1:205628648G>A ENST00000367145.3 - 5 1671 c.1376C>T c.(1375-1377)gCg>gTg p.A459V SLC45A3_ENST00000460934.1_5'UTR NM_033102.2 NP_149093.1 Q96JT2 S45A3_HUMAN solute carrier family 45, member 3 459 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) CCCGCAGAGCGCGGGTGGAGG 0.677000 T """ETV1, ETV5, ELK4, ERG""" prostate OREG0014161 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 8 0 0 0.248553 0 0 IGHV1-58 0 broad.mit.edu 37 14 107078546 107078546 + RNA SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr14:107078546G>A ENST00000390628.2 - 0 238 CGTTGTCCACGAGCCTGTCGC 0.532000 16 49 0 0 0.575678 0 0 TMEM252 169693 broad.mit.edu 37 9 71155606 71155606 + Missense_Mutation SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr9:71155606G>A ENST00000377311.3 - 1 177 c.125C>T c.(124-126)gCg>gTg p.A42V NM_153237.1 NP_694969.1 transmembrane protein 252 CAAATAGGCCGCAATCAGGCT 0.537000 9 20 0 0 0.335167 0 0 MUC16 94025 broad.mit.edu 37 19 9090675 9090675 + Missense_Mutation SNP G G T TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr19:9090675G>T ENST00000397910.4 - 1 1343 c.1140C>A c.(1138-1140)caC>caA p.H380Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 380 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 TCTTGGCTATGTGGGTGCTGG 0.507000 13 42 2.27111e-07 2.50839e-07 0.411799 1 0 NRG1 3084 broad.mit.edu 37 8 32621577 32621577 + Missense_Mutation SNP C C T TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr8:32621577C>T ENST00000338921.4 + 13 2121 c.1604C>T c.(1603-1605)aCg>aTg p.T535M NRG1_ENST00000356819.4_Missense_Mutation_p.T532M|NRG1_ENST00000287840.5_Missense_Mutation_p.T527M|NRG1_ENST00000539990.1_Missense_Mutation_p.T370M|NRG1_ENST00000405005.2_Missense_Mutation_p.T527M|NRG1_ENST00000287842.3_Missense_Mutation_p.T524M|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.T477M|NRG1_ENST00000287845.5_Missense_Mutation_p.T498M Q02297 NRG1_HUMAN neuregulin 1 527 Q -> R (in Ref. 2; AAA19951). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GAGTATGAAACGACCCAAGAG 0.552000 9 19 0 0 0.307466 0 0 OR4C6 219432 broad.mit.edu 37 11 55433000 55433000 + Missense_Mutation SNP C C T rs146965889 byFrequency TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr11:55433000C>T ENST00000314259.3 + 1 387 c.358C>T c.(358-360)Cgc>Tgc p.R120C NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 GGCCTATGACCGCTACGTGGC 0.552000 15 58 0 0 0.457914 0 0 PDGFRA 5156 broad.mit.edu 37 4 55139758 55139758 + Silent SNP C C T TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr4:55139758C>T ENST00000257290.5 + 10 1750 c.1419C>T c.(1417-1419)atC>atT p.I473I FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 473 Ig-like C2-type 5. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CAAACATCATCACGGAGATCC 0.498000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 26 30 0 0 0.706142 0 0 PLXNA4 91584 broad.mit.edu 37 7 131859587 131859587 + Missense_Mutation SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr7:131859587G>A ENST00000359827.3 - 21 4929 c.3967C>T c.(3967-3969)Cgg>Tgg p.R1323W PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1323W Q9HCM2 PLXA4_HUMAN plexin A4 1323 integral to membrane|intracellular|plasma membrane p.R1323W(3) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 AACAGCACCCGCATGGTGTAA 0.582000 34 116 0 0 0.779181 0 0 HDX 139324 broad.mit.edu 37 X 83724443 83724443 + Silent SNP A A C TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chrX:83724443A>C ENST00000297977.5 - 3 399 c.288T>G c.(286-288)tcT>tcG p.S96S HDX_ENST00000373177.2_Silent_p.S96S|HDX_ENST00000506585.2_Silent_p.S38S NM_001177479.1|NM_144657.4 NP_001170950.1|NP_653258.2 Q7Z353 HDX_HUMAN highly divergent homeobox 96 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 ATGTCCAAGAAGACTGCTGGC 0.428000 38 84 0 0 0.812448 0 0 BAGE2 85319 broad.mit.edu 37 21 11038841 11038841 + RNA SNP G G C TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr21:11038841G>C ENST00000470054.1 - 0 1362 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTTTCCAGCAGAGGAACTAAG 0.453000 32 195 0 0 0.760397 0 0 MORN3 283385 broad.mit.edu 37 12 122091088 122091088 + Missense_Mutation SNP C C T TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr12:122091088C>T ENST00000355329.3 - 4 711 c.541G>A c.(541-543)Ggc>Agc p.G181S NM_173855.4 NP_776254.3 Q6PF18 MORN3_HUMAN MORN repeat containing 3 181 breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145) AACAGCTGGCCGTGGTCCAGA 0.607000 8 33 0 0 0.307466 0 0 OR5H14 403273 broad.mit.edu 37 3 97868995 97868995 + Missense_Mutation SNP G G A rs148799830 TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr3:97868995G>A ENST00000437310.1 + 1 826 c.766G>A c.(766-768)Gcc>Acc p.A256T NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TGGGCCCCTCGCCTTCATGTA 0.413000 18 39 0 0 0.520397 0 0 BAGE2 85319 broad.mit.edu 37 21 11097573 11097573 + RNA SNP C C T TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr21:11097573C>T ENST00000470054.1 - 0 296 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aggctccaacctccagctcac 0.542000 5 42 0 0 0.217242 0 0 NCOR1 9611 broad.mit.edu 37 17 16029417 16029417 + Missense_Mutation SNP T T C TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr17:16029417T>C ENST00000268712.3 - 15 1870 c.1613A>G c.(1612-1614)aAa>aGa p.K538R NCOR1_ENST00000395851.1_Missense_Mutation_p.K538R|NCOR1_ENST00000395848.1_Missense_Mutation_p.K429R NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 538 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) tttttcatctttttcctcttc 0.264000 2 7 0 0 0.115264 0 0 COL1A2 1278 broad.mit.edu 37 7 94038721 94038721 + Missense_Mutation SNP G G A rs145693444 byFrequency TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr7:94038721G>A ENST00000297268.6 + 17 1351 c.880G>A c.(880-882)Gtt>Att p.V294I NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 294 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CTCCGGCCCCGTTGGACCTCC 0.502000 HNSCC(75;0.22) 28 76 0 0 0.769981 0 0 TRPV6 55503 broad.mit.edu 37 7 142573227 142573227 + Silent SNP T T C TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr7:142573227T>C ENST00000359396.3 - 8 1361 c.1116A>G c.(1114-1116)ctA>ctG p.L372L NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 372 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) TCACCTGAAGTAGCTTCTGCT 0.572000 15 53 0 0 0.479597 0 0 LMX1B 4010 broad.mit.edu 37 9 129453250 129453250 + Silent SNP C C T TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr9:129453250C>T ENST00000355497.5 + 3 469 c.462C>T c.(460-462)gaC>gaT p.D154D LMX1B_ENST00000425646.2_Silent_p.D131D|LMX1B_ENST00000373474.4_Silent_p.D154D|LMX1B_ENST00000526117.1_Silent_p.D154D|LMX1B_ENST00000561065.1_Silent_p.D131D NM_001174146.1 NP_001167617.1 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 131 dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15 GCAAGGGCGACGAATTCGTGC 0.637000 Nail-Patella Syndrome 4 23 0 0 0.150653 0 0 MTCP1 4515 broad.mit.edu 37 X 154293907 154293907 + Missense_Mutation SNP T T C TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chrX:154293907T>C ENST00000369476.3 - 3 842 c.263A>G c.(262-264)cAg>cGg p.Q88R MTCP1_ENST00000482244.1_5'UTR|MTCP1_ENST00000362018.2_Missense_Mutation_p.Q88R|CMC4_ENST00000369484.3_Intron NM_001018025.3 NP_001018025.1 P56278 MTCP1_HUMAN mature T-cell proliferation 1 88 cell proliferation large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TAAATGATGCTGTATCTGCCA 0.453000 T TRA@ T cell prolymphocytic leukemia 30 74 0 0 0.760397 0 0 TMEM132B 114795 broad.mit.edu 37 12 126139203 126139203 + Missense_Mutation SNP G G A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr12:126139203G>A ENST00000299308.3 + 9 3192 c.3184G>A c.(3184-3186)Ggg>Agg p.G1062R TMEM132B_ENST00000535886.1_Missense_Mutation_p.G574R NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 1062 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TATGGGGCTGGGGGATTCACA 0.463000 16 54 0 0 0.500413 0 0 STT3B 201595 broad.mit.edu 37 3 31641930 31641931 + Frame_Shift_Ins INS - - A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr3:31641930_31641931insA ENST00000295770.2 + 5 1065_1066 c.856_857insA c.(856-858)cagfs p.Q286fs STT3B_ENST00000453168.1_3'UTR NM_178862.1 NP_849193.1 Q8TCJ2 STT3B_HUMAN STT3B, subunit of the oligosaccharyltransferase complex (catalytic) 286 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 GATGCAGAGATACAGCAAAAGA 0.322 9 28 --- --- --- --- MECOM 2122 broad.mit.edu 37 3 168833251 168833251 + Frame_Shift_Del DEL G G - rs141957464 byFrequency TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr3:168833251delG ENST00000464456.1 - 7 3045 c.1845delC c.(1843-1845)agfs p.S615fs MECOM_ENST00000433243.2_Frame_Shift_Del_p.S616fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.S803fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.S615fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.S615fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.S680fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.S616fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.S615fs NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 24 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 ATTCGACGTTGCTTCCTTTTT 0.488 15 35 --- --- --- --- RPL7 6129 broad.mit.edu 37 8 74205020 74205022 + In_Frame_Del DEL CTT CTT - rs151181576 TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr8:74205020_74205022delCTT ENST00000352983.2 - 2 310_312 c.25_27delAAG c.(25-27)del p.K9del RPL7_ENST00000396467.1_5'UTR|RPL7_ENST00000396465.1_5'UTR|RPL7_ENST00000396466.1_5'UTR P18124 RL7_HUMAN ribosomal protein L7 9 4 X 12 AA tandem repeats. endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome breast(1)|kidney(1)|large_intestine(2)|lung(1) 5 Breast(64;0.0954) Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134) CAGGAACCTCCTTCTTCTTCTCT 0.414 11 56 --- --- --- --- JRK 8629 broad.mit.edu 37 8 143746154 143746154 + RNA DEL C C - TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr8:143746154delC ENST00000507178.2 - 0 1656 jerky homolog (mouse) all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;2.31e-05) cttcccgctaccccccagctg 0.637 5 6 --- --- --- --- PNPLA7 375775 broad.mit.edu 37 9 140356449 140356450 + Frame_Shift_Ins INS - - C rs71493670 TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr9:140356449_140356450insC ENST00000406427.1 - 32 4025_4026 c.3689_3690insG c.(3688-3690)gcgfs p.A1230fs PNPLA7_ENST00000277531.4_Frame_Shift_Ins_p.A1205fs|PNPLA7_ENST00000371457.1_Frame_Shift_Ins_p.A811fs|PNPLA7_ENST00000492278.1_5'UTR NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 1205 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) CGCCGCTGCGGCCCCAGATGTC 0.698 4 6 --- --- --- --- C12orf39 80763 broad.mit.edu 37 12 21684077 21684077 + Frame_Shift_Del DEL A A - TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr12:21684077delA ENST00000256969.2 + 6 465 c.299delA c.(298-300)gafs p.E100fs C12orf39_ENST00000543800.1_3'UTR NM_030572.2 NP_085049.1 Q9BT56 SPXN_HUMAN chromosome 12 open reading frame 39 100 extracellular region|nucleus|transport vesicle endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1) 7 ACAGATGAAGAAAAAAACTTT 0.284 7 14 --- --- --- --- MLXIP 22877 broad.mit.edu 37 12 122618566 122618567 + Frame_Shift_Ins INS - - C TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr12:122618566_122618567insC ENST00000377037.2 + 2 534_535 c.534_535insC c.(532-537)gcccccfs p.AP178fs MLXIP_ENST00000319080.6_Intron|MLXIP_ENST00000538698.1_Intron Q9HAP2 MLXIP_HUMAN MLX interacting protein 57 Required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) AGTGCGGGGCTCCCCCCGACCC 0.584 7 4 --- --- --- --- RP5-991G20.1 0 broad.mit.edu 37 16 72763868 72763869 + RNA INS - - A TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2defa773-3cbd-4c3c-9437-5f6db860284e fb3c685f-0ff5-4ea1-b28f-1b037edc40db g.chr16:72763868_72763869insA ENST00000563328.2 + 0 164 CGGTCCAAAACAAAAAAAAAAA 0.436 5 4 --- --- --- ---