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 AGMAT 79814 broad.mit.edu 37 1 15904246 15904246 + Silent SNP G A A rs148750290 by1000genomes TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr1:15904246G>A uc001awv.1 - 5 977 c.834C>T c.(832-834)GAC>GAT p.D278D DNAJC16_uc001awu.2_Intron NM_024758 NP_079034 Q9BSE5 SPEB_HUMAN agmatine ureohydrolase (agmatinase) precursor 278 Manganese 2 (By similarity). putrescine biosynthetic process|spermidine biosynthetic process mitochondrion agmatinase activity|metal ion binding skin(1) 1 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) GATCCAGAGCGTCAATATCAA 0.532 EPHA8 2046 broad.mit.edu 37 1 22924647 22924647 + Missense_Mutation SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr1:22924647G>A uc001bfx.1 + 12 2245 c.2120G>A c.(2119-2121)CGC>CAC p.R707H NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 707 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CGCCCAGGCCGCCTGGCAATG 0.622 HTR1D 3352 broad.mit.edu 37 1 23520071 23520071 + Silent SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr1:23520071G>A uc001bgn.2 - 1 1152 c.642C>T c.(640-642)ATC>ATT p.I214I NM_000864 NP_000855 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D 214 Helical; Name=5; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) CATATAGGATGATGAGCAACA 0.577 KLHDC9 126823 broad.mit.edu 37 1 161068632 161068632 + Missense_Mutation SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr1:161068632C>T uc001fxr.2 + 1 479 c.307C>T c.(307-309)CGC>TGC p.R103C KLHDC9_uc001fxq.2_5'UTR|KLHDC9_uc001fxs.2_Missense_Mutation_p.R103C NM_152366 NP_689579 Q8NEP7 KLDC9_HUMAN kelch/ankyrin repeat containing cyclin A1 103 Kelch 2. 0 all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CGGGTCTCGCCGCTTGGCCAC 0.726 ADAMTS4 9507 broad.mit.edu 37 1 161165991 161165991 + Missense_Mutation SNP G T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr1:161165991G>T uc001fyt.3 - 3 1488 c.1060C>A c.(1060-1062)CAG>AAG p.Q354K ADAMTS4_uc001fyu.2_3'UTR NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 354 Peptidase M12B. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AAGGCTGACTGGAGCCCATCA 0.577 SLC9A11 284525 broad.mit.edu 37 1 173552735 173552735 + Missense_Mutation SNP T A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr1:173552735T>A uc001giz.2 - 6 973 c.550A>T c.(550-552)ATT>TTT p.I184F SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 184 Helical; (Potential). sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 TCTCCTCTAATGAGATCAATG 0.294 PHLDA3 23612 broad.mit.edu 37 1 201437745 201437745 + Missense_Mutation SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr1:201437745C>T uc001gwq.2 - 1 555 c.170G>A c.(169-171)CGC>CAC p.R57H PHLDA3_uc009wzx.2_5'UTR NM_012396 NP_036528 Q9Y5J5 PHLA3_HUMAN pleckstrin homology-like domain, family A, 57 PH. anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade cytoplasm|intracellular membrane-bounded organelle|plasma membrane identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding 0 GGCCTTGATGCGGGCGAAGCT 0.687 KDM5B 10765 broad.mit.edu 37 1 202718129 202718129 + Missense_Mutation SNP C A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr1:202718129C>A uc001gyf.2 - 14 2076 c.1960G>T c.(1960-1962)GAC>TAC p.D654Y KDM5B_uc009xag.2_Missense_Mutation_p.D690Y|KDM5B_uc001gyg.1_Missense_Mutation_p.D496Y NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 654 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 ATGGCCATGTCTTTCTGAACA 0.403 USH2A 7399 broad.mit.edu 37 1 215972257 215972257 + Missense_Mutation SNP C T T rs140746096 TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr1:215972257C>T uc001hku.1 - 50 10337 c.9950G>A c.(9949-9951)CGC>CAC p.R3317H NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3317 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACCTGGAAGGCGATTGTACAC 0.473 HNSCC(13;0.011) C1orf65 164127 broad.mit.edu 37 1 223568231 223568231 + Missense_Mutation SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr1:223568231C>T uc001hoa.2 + 1 1517 c.1414C>T c.(1414-1416)CGC>TGC p.R472C NM_152610 NP_689823 Q8N715 CA065_HUMAN hypothetical protein LOC164127 472 Potential. central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0704) GGAGCGGCAACGCGAGCTGAG 0.607 RYR2 6262 broad.mit.edu 37 1 237863751 237863751 + Silent SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr1:237863751C>T uc001hyl.1 + 65 9471 c.9351C>T c.(9349-9351)TTC>TTT p.F3117F RYR2_uc010pxz.1_Silent_p.F72F NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3117 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 ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 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) AGCATCAGTTCGGAGAAGACC 0.373 NLRP3 114548 broad.mit.edu 37 1 247587925 247587925 + Missense_Mutation SNP G T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr1:247587925G>T uc001icr.2 + 5 1318 c.1180G>T c.(1180-1182)GCA>TCA p.A394S NLRP3_uc001ics.2_Missense_Mutation_p.A394S|NLRP3_uc001icu.2_Missense_Mutation_p.A394S|NLRP3_uc001icw.2_Missense_Mutation_p.A394S|NLRP3_uc001icv.2_Missense_Mutation_p.A394S|NLRP3_uc010pyw.1_Missense_Mutation_p.A392S|NLRP3_uc001ict.1_Missense_Mutation_p.A392S NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 394 NACHT. 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 lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 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) CCAAGCCAGGGCAGCCTTCAG 0.537 OIT3 170392 broad.mit.edu 37 10 74666378 74666378 + Missense_Mutation SNP A G G TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr10:74666378A>G uc001jte.1 + 4 787 c.569A>G c.(568-570)AAC>AGC p.N190S OIT3_uc009xqs.1_RNA NM_152635 NP_689848 Q8WWZ8 OIT3_HUMAN oncoprotein-induced transcript 3 precursor 190 EGF-like; calcium-binding (Potential). nuclear envelope calcium ion binding ovary(2) 2 Prostate(51;0.0198) GAGCAAAACAACGGTGGCTGC 0.488 EBF3 253738 broad.mit.edu 37 10 131640486 131640486 + Missense_Mutation SNP G C C TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr10:131640486G>C uc001lki.1 - 13 1298 c.1239C>G c.(1237-1239)ATC>ATG p.I413M NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 422 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 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) CCAGGGTGGGGATCTGGTTGT 0.617 OR52J3 119679 broad.mit.edu 37 11 5068212 5068212 + Missense_Mutation SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr11:5068212C>T uc010qyv.1 + 1 457 c.457C>T c.(457-459)CGT>TGT p.R153C NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|lung(1)|skin(1) 3 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CATTGTAATTCGTCCCGTTTT 0.468 SLC5A12 159963 broad.mit.edu 37 11 26718717 26718717 + Missense_Mutation SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr11:26718717G>A uc001mra.2 - 8 1347 c.1034C>T c.(1033-1035)ACT>ATT p.T345I SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Missense_Mutation_p.T345I NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 345 Cytoplasmic (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 TAACCTCAGAGTTCCACTGAA 0.373 PYGM 5837 broad.mit.edu 37 11 64521011 64521011 + Silent SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr11:64521011G>A uc001oax.3 - 11 2200 c.1383C>T c.(1381-1383)TCC>TCT p.S461S PYGM_uc001oay.3_Silent_p.S373S NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 461 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) TGAGGATCTCGGAGTGGATGC 0.652 GPR83 10888 broad.mit.edu 37 11 94113625 94113625 + Missense_Mutation SNP C T T rs145628763 byFrequency TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr11:94113625C>T uc001pet.2 - 4 1134 c.962G>A c.(961-963)CGC>CAC p.R321H NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 precursor 321 Extracellular (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity central_nervous_system(2)|ovary(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ATTGTTGGTGCGGATGACCTT 0.517 KIAA1377 57562 broad.mit.edu 37 11 101793446 101793446 + Missense_Mutation SNP G A A rs142032267 TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr11:101793446G>A uc001pgm.2 + 2 473 c.203G>A c.(202-204)CGA>CAA p.R68Q KIAA1377_uc001pgn.2_Missense_Mutation_p.R24Q NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 68 Potential. protein binding p.R68*(1) breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AAAATATGTCGAAATCGAGCA 0.303 GRIN2B 2904 broad.mit.edu 37 12 13716353 13716353 + Silent SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr12:13716353C>T uc001rbt.2 - 13 3998 c.3819G>A c.(3817-3819)ACG>ACA p.T1273T NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1273 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGGCGTTTGACGTCACCGCCA 0.582 EPYC 1833 broad.mit.edu 37 12 91363838 91363838 + Nonsense_Mutation SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr12:91363838G>A uc001tbk.2 - 6 874 c.781C>T c.(781-783)CGA>TGA p.R261* NM_004950 NP_004941 Q99645 EPYC_HUMAN dermatan sulfate proteoglycan 3 precursor 261 LRR 5. female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding skin(1) 1 TGAAGGGCTCGTAGATTTTCT 0.478 NR1H4 9971 broad.mit.edu 37 12 100897255 100897255 + Missense_Mutation SNP G T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr12:100897255G>T uc001tht.1 + 1 118 c.90G>T c.(88-90)ATG>ATT p.M30I NR1H4_uc001thp.1_Intron|NR1H4_uc001thq.1_Intron|NR1H4_uc010svj.1_Intron|NR1H4_uc001thr.1_Intron|NR1H4_uc010svk.1_Intron|NR1H4_uc001ths.1_Missense_Mutation_p.M30I NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 30 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 TGGAAATGATGAGTATGAAGC 0.453 DAO 1610 broad.mit.edu 37 12 109293186 109293186 + Missense_Mutation SNP C T T rs140015394 TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr12:109293186C>T uc001tnr.3 + 10 1000 c.847C>T c.(847-849)CGG>TGG p.R283W DAO_uc001tnq.3_Missense_Mutation_p.R217W|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA NM_001917 NP_001908 P14920 OXDA_HUMAN D-amino-acid oxidase 283 Substrate. glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity ovary(1)|skin(1) 2 AACTGGCTTCCGGCCAGTACG 0.458 RPGRIP1 57096 broad.mit.edu 37 14 21793505 21793505 + Missense_Mutation SNP C A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr14:21793505C>A uc001wag.2 + 15 2330 c.2330C>A c.(2329-2331)ACC>AAC p.T777N RPGRIP1_uc001wah.2_Missense_Mutation_p.T419N|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001wak.2_Missense_Mutation_p.T252N|RPGRIP1_uc010aim.2_Missense_Mutation_p.T160N|RPGRIP1_uc001wal.2_Missense_Mutation_p.T136N|RPGRIP1_uc001wam.2_Missense_Mutation_p.T94N NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 777 response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) TACCTGTCAACCGATGTGCTT 0.542 LOXL1 4016 broad.mit.edu 37 15 74238821 74238821 + Silent SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr15:74238821C>T uc002awc.1 + 3 1611 c.1275C>T c.(1273-1275)CGC>CGT p.R425R LOXL1_uc002awd.1_5'Flank NM_005576 NP_005567 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 preproprotein 425 Lysyl-oxidase like. protein deamination extracellular space copper ion binding 0 TCCCCCAGCGCGTGAAGAACC 0.692 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr15:102515299G>A uc002cdi.2 + 9 1943 c.523G>A c.(523-525)GGC>AGC p.G175S WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 TGGGGGCATCGGCAAGGCCAA 0.652 USP6 9098 broad.mit.edu 37 17 5050405 5050405 + Nonsense_Mutation SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr17:5050405C>T uc002gau.1 + 29 4577 c.2347C>T c.(2347-2349)CAA>TAA p.Q783* USP6_uc002gav.1_Nonsense_Mutation_p.Q783*|USP6_uc010ckz.1_Nonsense_Mutation_p.Q466* NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 783 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 CCAAAAAGTACAACTCTCAGT 0.383 T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts MYO1D 4642 broad.mit.edu 37 17 31105570 31105570 + Missense_Mutation SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr17:31105570G>A uc002hho.1 - 3 338 c.326C>T c.(325-327)ACG>ATG p.T109M MYO1D_uc002hhp.1_Missense_Mutation_p.T109M|MYO1D_uc010wcb.1_Missense_Mutation_p.T109M NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 109 ATP (Potential).|Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) ACTGGCTTCCGTTTTACCAGC 0.393 MYO19 80179 broad.mit.edu 37 17 34856982 34856982 + Missense_Mutation SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr17:34856982G>A uc010wcy.1 - 23 3166 c.2174C>T c.(2173-2175)ACT>ATT p.T725I MYO19_uc002hmw.2_Missense_Mutation_p.T525I|MYO19_uc010cuu.2_RNA NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN myosin XIX isoform 2 725 mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity ovary(1) 1 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CGAGTCACCAGTTATGGCTGC 0.577 TANC2 26115 broad.mit.edu 37 17 61428697 61428697 + Missense_Mutation SNP A G G TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr17:61428697A>G uc002jal.3 + 11 1695 c.1672A>G c.(1672-1674)ATT>GTT p.I558V TANC2_uc010wpe.1_Missense_Mutation_p.I468V NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 558 binding ovary(2) 2 TGGGGATACAATTGTATCGTT 0.338 PTPRM 5797 broad.mit.edu 37 18 7888125 7888125 + Missense_Mutation SNP C A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr18:7888125C>A uc002knn.3 + 3 721 c.218C>A c.(217-219)GCC>GAC p.A73D PTPRM_uc010dkv.2_Missense_Mutation_p.A73D NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 73 MAM.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) CTGGTGAATGCCTCTGGGAGA 0.453 MUC16 94025 broad.mit.edu 37 19 9087832 9087832 + Missense_Mutation SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr19:9087832G>A uc002mkp.2 - 1 4187 c.3983C>T c.(3982-3984)ACG>ATG p.T1328M NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1328 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTTAGGATCCGTAGTGGTGAT 0.527 RAB3D 9545 broad.mit.edu 37 19 11448018 11448018 + Missense_Mutation SNP C T T rs144965675 by1000genomes TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr19:11448018C>T uc002mqy.2 - 2 296 c.58G>A c.(58-60)GAC>AAC p.D20N NM_004283 NP_004274 O95716 RAB3D_HUMAN RAB3D, member RAS oncogene family 20 exocytosis|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity ovary(2) 2 AACATATAGTCGAAGTTCTGA 0.557 OR10H2 26538 broad.mit.edu 37 19 15839588 15839589 + Frame_Shift_Ins INS - CTTATTGTGG CTTATTGTGG TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr19:15839588_15839589insCTTATTGTGG uc002nbm.2 + 1 755_756 c.735_736insCTTATTGTGG c.(733-738)CACCTTfs p.H245fs NM_013939 NP_039227 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, 245_246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) GTGCCTCTCACCTTATTGTGGT 0.540 ZNF91 7644 broad.mit.edu 37 19 23543307 23543307 + Missense_Mutation SNP G C C TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr19:23543307G>C uc002nre.2 - 4 2587 c.2474C>G c.(2473-2475)CCC>CGC p.P825R ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.P793R NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 825 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) ACATTTGTAGGGTTTCTCTCC 0.403 C5AR1 728 broad.mit.edu 37 19 47823716 47823716 + Missense_Mutation SNP C T T rs146163744 TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr19:47823716C>T uc002pgj.1 + 2 731 c.682C>T c.(682-684)CGG>TGG p.R228W NM_001736 NP_001727 P21730 C5AR_HUMAN complement component 5 receptor 1 228 Cytoplasmic (Potential). activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) CATCCTGCTCCGGACGTGGAG 0.612 KCNS3 3790 broad.mit.edu 37 2 18112318 18112318 + Missense_Mutation SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr2:18112318G>A uc002rcv.2 + 3 494 c.43G>A c.(43-45)GAA>AAA p.E15K KCNS3_uc002rcw.2_Missense_Mutation_p.E15K NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel 15 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ACAAGACGAGGAACTTGTCAA 0.537 APOB 338 broad.mit.edu 37 2 21227512 21227512 + Missense_Mutation SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr2:21227512C>T uc002red.2 - 27 11952 c.11824G>A c.(11824-11826)GCC>ACC p.A3942T NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3942 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 ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTCTTAGAGGCTAACGTACCA 0.358 GPD2 2820 broad.mit.edu 37 2 157407115 157407115 + Silent SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr2:157407115G>A uc002tzf.3 + 8 1188 c.828G>A c.(826-828)GGG>GGA p.G276G GPD2_uc010zch.1_Silent_p.G49G|GPD2_uc002tzd.3_Silent_p.G276G|GPD2_uc002tze.1_RNA NM_001083112 NP_001076581 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2, 276 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity ovary(1) 1 CTTTCACAGGGCAGGAATTTG 0.438 KIAA1486 57624 broad.mit.edu 37 2 226447519 226447519 + Silent SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr2:226447519G>A uc002voe.2 + 4 1561 c.1386G>A c.(1384-1386)TCG>TCA p.S462S KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.S232S NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 462 Pro-rich. ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) CTGTGCATTCGGGCAGCCTCT 0.622 UGT1A7 54577 broad.mit.edu 37 2 234591304 234591304 + Missense_Mutation SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr2:234591304G>A uc002vut.2 + 1 721 c.721G>A c.(721-723)GCA>ACA p.A241T UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Missense_Mutation_p.A241T NM_019077 NP_061950 Q9HAW7 UD17_HUMAN UDP glycosyltransferase 1 family, polypeptide A7 241 drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding ovary(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCCTGTCACGGCATATGATCT 0.413 COL6A3 1293 broad.mit.edu 37 2 238275630 238275630 + Nonsense_Mutation SNP C A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr2:238275630C>A uc002vwl.2 - 11 5485 c.5200G>T c.(5200-5202)GAG>TAG p.E1734* COL6A3_uc002vwo.2_Nonsense_Mutation_p.E1528*|COL6A3_uc010znj.1_Nonsense_Mutation_p.E1127* NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1734 VWFA 9.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 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) CTGCCTGCCTCAGGCACAAAG 0.572 SSTR4 6754 broad.mit.edu 37 20 23016973 23016973 + Missense_Mutation SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr20:23016973G>A uc002wsr.2 + 1 917 c.853G>A c.(853-855)GTG>ATG p.V285M NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 285 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) GAACCTCTTCGTGACCAGCCT 0.552 CLDN14 23562 broad.mit.edu 37 21 37833888 37833888 + Missense_Mutation SNP C T T rs142205038 TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr21:37833888C>T uc002yvk.1 - 2 248 c.106G>A c.(106-108)GTG>ATG p.V36M CLDN14_uc002yvn.1_Missense_Mutation_p.V36M|CLDN14_uc002yvo.1_Missense_Mutation_p.V36M|CLDN14_uc002yvl.1_Missense_Mutation_p.V36M|CLDN14_uc002yvm.1_Missense_Mutation_p.V36M NM_012130 NP_036262 O95500 CLD14_HUMAN claudin 14 36 Extracellular (Potential). calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity 0 TTGGTGCCCACGTGCGCTGTC 0.622 CDCP1 64866 broad.mit.edu 37 3 45132920 45132920 + Missense_Mutation SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr3:45132920C>T uc003com.2 - 7 1873 c.1738G>A c.(1738-1740)GTG>ATG p.V580M NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN CUB domain-containing protein 1 isoform 1 580 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) TCTCTGGGCACGCTGATGTTC 0.607 GSK3B 2932 broad.mit.edu 37 3 119812236 119812236 + Missense_Mutation SNP G C C TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr3:119812236G>C uc003edo.2 - 1 1029 c.46C>G c.(46-48)CCG>GCG p.P16A GSK3B_uc003edn.2_Missense_Mutation_p.P16A|uc003edp.2_5'Flank NM_001146156 NP_001139628 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta isoform 2 16 axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding lung(2) 2 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) TGCTGCACCGGCTTGCAGCTC 0.483 WFS1 7466 broad.mit.edu 37 4 6302612 6302612 + Missense_Mutation SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr4:6302612G>A uc003giy.2 + 8 1256 c.1090G>A c.(1090-1092)GTG>ATG p.V364M WFS1_uc003gix.2_Missense_Mutation_p.V364M|WFS1_uc003giz.2_Missense_Mutation_p.V182M NM_001145853 NP_001139325 O76024 WFS1_HUMAN wolframin 364 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2) 2 Colorectal(103;0.0512) CACCCTCAAGGTGTTCCAGGA 0.572 TLR6 10333 broad.mit.edu 37 4 38830723 38830723 + Silent SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr4:38830723C>T uc003gtm.2 - 1 438 c.372G>A c.(370-372)AGG>AGA p.R124R TLR6_uc010ifg.1_Silent_p.R124R NM_006068 NP_006059 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 precursor 124 LRR 4.|Extracellular (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity ovary(2) 2 GATCTAAATGCCTGAAACTCA 0.363 PDGFRA 5156 broad.mit.edu 37 4 55155241 55155241 + Missense_Mutation SNP G C C TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr4:55155241G>C uc003han.3 + 21 3171 c.2840G>C c.(2839-2841)AGT>ACT p.S947T PDGFRA_uc003haa.2_Missense_Mutation_p.S707T NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 947 Protein kinase.|Cytoplasmic (Potential). 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 soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 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) TACCACCTGAGTGAGATTGTG 0.498 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) PDCL2 132954 broad.mit.edu 37 4 56435994 56435994 + Missense_Mutation SNP T C C TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr4:56435994T>C uc003hbb.2 - 4 356 c.253A>G c.(253-255)AAA>GAA p.K85E NM_152401 NP_689614 Q8N4E4 PDCL2_HUMAN phosducin-like 2 85 0 Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669) TTTTGTTTTTTCTTAAGAGCT 0.289 PPBP 5473 broad.mit.edu 37 4 74853312 74853312 + Missense_Mutation SNP G T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr4:74853312G>T uc003hhj.2 - 2 286 c.206C>A c.(205-207)ACC>AAC p.T69N NM_002704 NP_002695 P02775 CXCL7_HUMAN pro-platelet basic protein precursor 69 chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division extracellular space|platelet alpha granule lumen chemokine activity|glucose transmembrane transporter activity|growth factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) AATTCCAGAGGTTGTCTTTAT 0.363 TTC29 83894 broad.mit.edu 37 4 147824706 147824706 + Silent SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr4:147824706G>A uc003ikw.3 - 6 803 c.576C>T c.(574-576)TAC>TAT p.Y192Y TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Silent_p.Y218Y|TTC29_uc010ipd.1_Silent_p.Y192Y NM_031956 NP_114162 Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 192 TPR 1. binding 0 all_hematologic(180;0.151) CATCTTCCTCGTAGAGAAGAC 0.458 WWC2 80014 broad.mit.edu 37 4 184166575 184166576 + Frame_Shift_Ins INS - A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr4:184166575_184166576insA uc010irx.2 + 6 791_792 c.609_610insA c.(607-612)GATAAAfs p.D203fs WWC2_uc003ivk.3_5'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Intron NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 203_204 ovary(2)|lung(1) 3 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) ACAGAATTGATAAAAAAATGTC 0.356 CDC20B 166979 broad.mit.edu 37 5 54423154 54423154 + Missense_Mutation SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr5:54423154C>T uc003jpo.1 - 8 1095 c.920G>A c.(919-921)CGG>CAG p.R307Q CDC20B_uc003jpn.1_Missense_Mutation_p.R307Q|CDC20B_uc010ivu.1_Missense_Mutation_p.R307Q|CDC20B_uc010ivv.1_Missense_Mutation_p.R307Q NM_152623 NP_689836 Q86Y33 CD20B_HUMAN CDC20 cell division cycle 20 homolog B isoform 307 WD 2. 0 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) ATTTCTCAGCCGCTTTTTAGT 0.438 FAT2 2196 broad.mit.edu 37 5 150947475 150947475 + Missense_Mutation SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr5:150947475C>T uc003lue.3 - 1 1031 c.1018G>A c.(1018-1020)GGC>AGC p.G340S GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.G340S NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 340 Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAATAAGGGCCGCTCCCACTC 0.502 LARP1 23367 broad.mit.edu 37 5 154193504 154193504 + Missense_Mutation SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr5:154193504G>A uc003lvp.2 + 19 3568 c.3139G>A c.(3139-3141)GGC>AGC p.G1047S LARP1_uc003lvo.2_Missense_Mutation_p.G970S NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 1047 Poly-Gly. protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGGAGGTGGCGGCGGTGAGGG 0.637 EYA4 2070 broad.mit.edu 37 6 133844286 133844286 + Missense_Mutation SNP T C C TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr6:133844286T>C uc003qec.3 + 18 2167 c.1709T>C c.(1708-1710)ATT>ACT p.I570T EYA4_uc011ecq.1_Missense_Mutation_p.I516T|EYA4_uc011ecr.1_Missense_Mutation_p.I522T|EYA4_uc003qed.3_Missense_Mutation_p.I570T|EYA4_uc003qee.3_Missense_Mutation_p.I547T|EYA4_uc011ecs.1_Missense_Mutation_p.I576T|uc003qeg.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 570 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) GCTTTCCCCATTGAGAATATT 0.383 SDK1 221935 broad.mit.edu 37 7 4050700 4050700 + Missense_Mutation SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr7:4050700C>T uc003smx.2 + 15 2373 c.2234C>T c.(2233-2235)GCG>GTG p.A745V SDK1_uc010kso.2_Missense_Mutation_p.A21V NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 745 Fibronectin type-III 1. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CGGGTGTGCGCGGTGAATGAA 0.622 TMEM196 256130 broad.mit.edu 37 7 19765216 19765216 + Missense_Mutation SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr7:19765216C>T uc011jyg.1 - 3 465 c.380G>A c.(379-381)CGA>CAA p.R127Q TMEM196_uc003sur.2_RNA NM_152774 NP_689987 Q5HYL7 TM196_HUMAN transmembrane protein 196 133 integral to membrane 0 ACTGGCTAGTCGACAAGTGAG 0.498 EGFR 1956 broad.mit.edu 37 7 55211080 55211080 + Missense_Mutation SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr7:55211080G>A uc003tqk.2 + 3 569 c.323G>A c.(322-324)AGA>AAA p.R108K EGFR_uc003tqh.2_Missense_Mutation_p.R108K|EGFR_uc003tqi.2_Missense_Mutation_p.R108K|EGFR_uc003tqj.2_Missense_Mutation_p.R108K|EGFR_uc010kzg.1_Missense_Mutation_p.R108K|EGFR_uc011kco.1_Missense_Mutation_p.R55K NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 108 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.R108K(7)|p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CAGATCATCAGAGGAAATATG 0.423 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C T T rs149840192 TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr7:55221822C>T uc003tqk.2 + 7 1112 c.866C>T c.(865-867)GCC>GTC p.A289V EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 289 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCTTTGGTGCCACCTGCGTG 0.592 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55241677 55241677 + Missense_Mutation SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr7:55241677G>A uc003tqk.2 + 18 2371 c.2125G>A c.(2125-2127)GAA>AAA p.E709K EGFR_uc010kzg.1_Missense_Mutation_p.E664K|EGFR_uc011kco.1_Missense_Mutation_p.E656K NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 709 Cytoplasmic (Potential). E -> K (found in a lung cancer sample).|E -> A (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.E709K(17)|p.E709A(11)|p.E709G(7)|p.E709V(5)|p.E709_T710>D(5)|p.E709H(2)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.E709fs*1(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATCTTGAAGGAAACTGAATT 0.567 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55241694 55241694 + Missense_Mutation SNP G C C TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr7:55241694G>C uc003tqk.2 + 18 2388 c.2142G>C c.(2140-2142)AAG>AAC p.K714N EGFR_uc010kzg.1_Missense_Mutation_p.K669N|EGFR_uc011kco.1_Missense_Mutation_p.K661N NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 714 Cytoplasmic (Potential).|Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AATTCAAAAAGATCAAAGTGC 0.567 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) ZNF3 7551 broad.mit.edu 37 7 99669056 99669056 + Nonsense_Mutation SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr7:99669056G>A uc003usq.2 - 6 1358 c.1051C>T c.(1051-1053)CAG>TAG p.Q351* ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Nonsense_Mutation_p.Q351*|ZNF3_uc010lgj.2_Nonsense_Mutation_p.Q315*|ZNF3_uc003uss.2_Nonsense_Mutation_p.Q358*|ZNF3_uc003ust.3_Nonsense_Mutation_p.Q351* NM_032924 NP_116313 P17036 ZNF3_HUMAN zinc finger protein 3 isoform 2 351 C2H2-type 6. GEKPYECNECGKAFSQSSHLYQHQRIHTGEKPYECMECGGK FTYSSGLIQHQ -> EALPTFVTLIRLLPSVDPIVTNEAAF PAESLATIFALIWRLFCVHSLMFKKV (in Ref. 2; BAA91019). cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) TGTGAGCTCTGGCTGAAGGCT 0.473 SERPINE1 5054 broad.mit.edu 37 7 100779013 100779013 + Missense_Mutation SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr7:100779013G>A uc003uxt.2 + 7 1166 c.1018G>A c.(1018-1020)GTC>ATC p.V340I SERPINE1_uc011kkj.1_Missense_Mutation_p.V325I|SERPINE1_uc003uxu.1_3'UTR NM_000602 NP_000593 P05121 PAI1_HUMAN plasminogen activator inhibitor-1 isoform 1 340 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) GCCTCTCCACGTCGCGCAGGC 0.582 RELN 5649 broad.mit.edu 37 7 103205920 103205920 + Missense_Mutation SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr7:103205920C>T uc003vca.2 - 34 5175 c.5015G>A c.(5014-5016)TGT>TAT p.C1672Y RELN_uc010liz.2_Missense_Mutation_p.C1672Y NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1672 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 ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GGGCTTGCTACAGCCCATGCT 0.448 NRCAM 4897 broad.mit.edu 37 7 107824688 107824688 + Missense_Mutation SNP C A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr7:107824688C>A uc003vfb.2 - 22 2772 c.2301G>T c.(2299-2301)TGG>TGT p.W767C NRCAM_uc003vfc.2_Missense_Mutation_p.W751C|NRCAM_uc011kmk.1_Missense_Mutation_p.W762C|NRCAM_uc003vfd.2_Missense_Mutation_p.W743C|NRCAM_uc003vfe.2_Missense_Mutation_p.W743C NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 767 Fibronectin type-III 2.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 AGCTCACCTTCCACGTAATCA 0.368 FAM71F1 84691 broad.mit.edu 37 7 128355633 128355633 + Silent SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr7:128355633G>A uc003vno.1 + 1 191 c.138G>A c.(136-138)CCG>CCA p.P46P FAM71F1_uc010llo.1_Intron|FAM71F1_uc011koq.1_Intron|FAM71F1_uc003vnm.1_Intron|FAM71F1_uc003vnn.1_Intron|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Silent_p.P46P NM_032599 NP_115988 Q96KD3 F71F1_HUMAN testes development-related NYD-SP18 46 skin(1) 1 ATGGAGAGCCGAACCCTGGAG 0.522 UBE3C 9690 broad.mit.edu 37 7 157041143 157041143 + Missense_Mutation SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr7:157041143G>A uc010lqs.2 + 19 2875 c.2563G>A c.(2563-2565)GAC>AAC p.D855N UBE3C_uc003wni.3_Missense_Mutation_p.D218N NM_014671 NP_055486 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 855 HECT. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(2)|large_intestine(1) 5 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) TGCCGACGTGGACATTCACCA 0.502 UBR5 51366 broad.mit.edu 37 8 103289358 103289358 + Silent SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr8:103289358C>T uc003ykr.1 - 45 6384 c.6351G>A c.(6349-6351)CGG>CGA p.R2117R UBR5_uc003yks.1_Silent_p.R2117R NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 2117 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CTTTTTTTTGCCGGTTTTGCA 0.378 COL14A1 7373 broad.mit.edu 37 8 121267573 121267573 + Missense_Mutation SNP G T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr8:121267573G>T uc003yox.2 + 23 3112 c.2847G>T c.(2845-2847)AGG>AGT p.R949S COL14A1_uc003yoy.2_Missense_Mutation_p.R627S NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 949 Fibronectin type-III 8. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CAGCCTATAGGGTTGTTATAG 0.453 IFNE 338376 broad.mit.edu 37 9 21481272 21481272 + Missense_Mutation SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chr9:21481272C>T uc003zpg.2 - 1 1041 c.422G>A c.(421-423)AGA>AAA p.R141K LOC554202_uc003zpe.2_Intron|LOC554202_uc003zpf.2_Intron NM_176891 NP_795372 Q86WN2 IFNE_HUMAN interferon, epsilon precursor 141 defense response|response to virus extracellular space cytokine activity|cytokine receptor binding 0 AACTTGTAATCTAAGGTTATC 0.433 IL3RA 3563 broad.mit.edu 37 X 1484071 1484071 + Missense_Mutation SNP C T T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chrX:1484071C>T uc004cps.2 + 9 1149 c.800C>T c.(799-801)ACG>ATG p.T267M IL3RA_uc011mhd.1_Missense_Mutation_p.T189M NM_002183 NP_002174 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha precursor 267 Extracellular (Potential). integral to membrane|plasma membrane interleukin-3 receptor activity skin(2)|lung(1) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) AATCCTGGAACGTACACAGTA 0.433 STS 412 broad.mit.edu 37 X 7177573 7177573 + Missense_Mutation SNP G A A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chrX:7177573G>A uc004cry.3 + 5 826 c.581G>A c.(580-582)GGG>GAG p.G194E NM_000351 NP_000342 P08842 STS_HUMAN steryl-sulfatase precursor 194 Helical. female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity central_nervous_system(1) 1 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) CAGATCGTCGGGGTCACCCTC 0.567 Ichthyosis SATL1 340562 broad.mit.edu 37 X 84349151 84349151 + Frame_Shift_Del DEL A - - TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 9880c3c9-5685-42a7-8fe9-7585ea1a1d37 638e5204-4a1a-43a0-bab5-2d3f1bac8dee g.chrX:84349151delA uc011mqx.1 - 4 1859 c.1859delT c.(1858-1860)GTCfs p.V620fs SATL1_uc004een.2_Frame_Shift_Del_p.V620fs NM_001163541 NP_001157013 Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 433 N-acetyltransferase.|Acetyl-CoA binding (By similarity). N-acetyltransferase activity breast(2) 2 AGCTTGTGTGACATAAAAGTC 0.338