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 ACHILLES_Top_Genes 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_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut KANK4 163782 broad.mit.edu 37 1 62739326 62739326 + Missense_Mutation SNP C C T rs142004576 TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr1:62739326C>T uc001dah.3 - 3 1827 c.1450G>A c.(1450-1452)GAG>AAG p.E484K KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 484 ovary(3)|skin(2)|lung(1) 6 AGGACCTGCTCGGGTCCCTGT 0.567 NA 48 54 0 0 0.01441 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr1:145367767G>A uc001end.3 + 85 10623 c.10588G>A c.(10588-10590)GAA>AAA p.E3530K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3455 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.254 NA 6 94 0 0 0.00308 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150529665 150529665 + Missense_Mutation SNP G G A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr1:150529665G>A uc001eux.2 + 12 2137 c.1901G>A c.(1900-1902)CGC>CAC p.R634H ADAMTSL4_uc001euw.2_Missense_Mutation_p.R634H|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.R657H|ADAMTSL4_uc010pcg.1_Intron|ADAMTSL4_uc009wlx.2_5'Flank NM_019032 NP_061905 Q6UY14 ATL4_HUMAN thrombospondin repeat containing 1 isoform 1 634 Pro-rich. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding ovary(1)|skin(1) 2 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CCGGCACCCCGCCCAGCCCGG 0.711 NA 10 42 0 0 0.003163 0 0 SPTA1 6708 broad.mit.edu 37 1 158592861 158592861 + Missense_Mutation SNP G G A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr1:158592861G>A uc001fst.1 - 43 6231 c.6032C>T c.(6031-6033)GCC>GTC p.A2011V NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2011 Spectrin 19. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CAGCAGAGCGGCATAACGCTC 0.483 NA 7 910 0 0 0.001168 0 0 LAMC1 3915 broad.mit.edu 37 1 183104244 183104244 + Missense_Mutation SNP G G T TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr1:183104244G>T uc001gpy.3 + 24 4324 c.4067G>T c.(4066-4068)GGA>GTA p.G1356V NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 1356 Potential.|Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCAAAGAAGGGACGGGATACC 0.502 NA 16 30 9.16793e-09 1.02982e-08 0.00499 1 0 RYR2 6262 broad.mit.edu 37 1 237791246 237791246 + Silent SNP G G T TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr1:237791246G>T uc001hyl.1 + 41 6426 c.6306G>T c.(6304-6306)CTG>CTT p.L2102L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2102 Cytoplasmic (By similarity).|4 X approximate repeats. 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) TTCGGGCCCTGCCAAAGACCT 0.567 NA 14 44 4.14922e-12 4.86051e-12 0.004007 1 0 IDI1 3422 broad.mit.edu 37 10 1089975 1089975 + Nonsense_Mutation SNP T T A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr10:1089975T>A uc001iga.2 - 2 395 c.277A>T c.(277-279)AAG>TAG p.K93* C10orf110_uc010qaf.1_RNA|C10orf110_uc001ifx.3_RNA|C10orf110_uc001ifw.3_3'UTR|C10orf110_uc001ify.3_RNA|IDI1_uc001ifz.2_Nonsense_Mutation_p.K37*|IDI1_uc001igb.2_Intron|IDI1_uc001igc.2_Nonsense_Mutation_p.K37* NM_004508 NP_004499 Q13907 IDI1_HUMAN isopentenyl-diphosphate delta isomerase 36 Substrate. carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding 0 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.221) Epithelial(11;0.0972) CAATTCTTCTTGGTCTCAGCT 0.398 NA 12 198 0 0 0.013537 0 0 TET1 80312 broad.mit.edu 37 10 70450634 70450634 + Nonsense_Mutation SNP C C G TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr10:70450634C>G uc001jok.3 + 12 5979 c.5474C>G c.(5473-5475)TCA>TGA p.S1825* NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1825 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TTAAAAAGTTCAGACAACACT 0.453 NA 9 220 0 0 0.004482 0 0 MYOF 26509 broad.mit.edu 37 10 95113621 95113621 + Missense_Mutation SNP C C G TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr10:95113621C>G uc001kin.2 - 32 3551 c.3428G>C c.(3427-3429)TGC>TCC p.C1143S MYOF_uc001kio.2_Missense_Mutation_p.C1130S|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 1143 Cytoplasmic (Potential).|C2 4. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 ATAGACATAGCAGCGCAGATG 0.353 NA 47 69 0 0 0.01441 0 0 SAAL1 113174 broad.mit.edu 37 11 18108506 18108506 + Nonsense_Mutation SNP G G A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr11:18108506G>A uc001mnq.2 - 9 999 c.949C>T c.(949-951)CAA>TAA p.Q317* SAAL1_uc001mnr.2_Nonsense_Mutation_p.Q317*|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Nonsense_Mutation_p.Q317* NM_138421 NP_612430 Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 317 acute-phase response extracellular region binding 0 TTCTGTTCTTGAAGAATGATG 0.403 NA 4 116 0 0 0.009096 0 0 SLC22A25 387601 broad.mit.edu 37 11 62997041 62997041 + Silent SNP G G A rs150920552 byFrequency TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr11:62997041G>A uc001nwr.1 - 1 84 c.84C>T c.(82-84)AAC>AAT p.N28N SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_Silent_p.N28N NM_199352 NP_955384 Q6T423 S22AP_HUMAN putative UST1-like organic anion transporter 28 Helical; Name=1; (Potential). transmembrane transport integral to membrane ovary(3)|skin(1) 4 ATACTATGACGTTGAACATTA 0.458 NA 28 75 0 0 0.00632 0 0 SF1 7536 broad.mit.edu 37 11 64535055 64535055 + Missense_Mutation SNP G G A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr11:64535055G>A uc001obb.1 - 10 1707 c.1330C>T c.(1330-1332)CCT>TCT p.P444S SF1_uc010rnm.1_Missense_Mutation_p.P136S|SF1_uc010rnn.1_Missense_Mutation_p.P418S|SF1_uc001oaz.1_Missense_Mutation_p.P569S|SF1_uc001oba.1_Missense_Mutation_p.P444S|SF1_uc001obc.1_Missense_Mutation_p.P444S|SF1_uc001obd.1_Missense_Mutation_p.P444S|SF1_uc001obe.1_Missense_Mutation_p.P329S|SF1_uc010rno.1_Missense_Mutation_p.P329S NM_004630 NP_004621 Q15637 SF01_HUMAN splicing factor 1 isoform 1 444 Pro-rich. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding ovary(1)|breast(1)|skin(1) 3 ATTGGAGGAGGGCCATGGTGC 0.592 NA OREG0021062 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 65 112 0 0 0.01441 0 0 FAT3 120114 broad.mit.edu 37 11 92526038 92526038 + Missense_Mutation SNP G G A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr11:92526038G>A uc001pdj.3 + 8 4734 c.4717G>A c.(4717-4719)GCG>ACG p.A1573T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1573 Cadherin 15.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACTGTATGAAGCGTCTGTGTT 0.438 NA TCGA Ovarian(4;0.039) 6 268 0 0 0.004482 0 0 USP15 9958 broad.mit.edu 37 12 62785065 62785065 + Missense_Mutation SNP G G A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr12:62785065G>A uc001src.1 + 16 2098 c.2089G>A c.(2089-2091)GAG>AAG p.E697K USP15_uc001srb.1_Missense_Mutation_p.E668K NM_006313 NP_006304 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 697 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) ATTATGTACTGAGGATACTTG 0.383 Melanoma(181;615 2041 39364 49691 50001) NA 38 80 0 0 0.006999 0 0 ADCY4 196883 broad.mit.edu 37 14 24798609 24798609 + Missense_Mutation SNP G G A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr14:24798609G>A uc001wov.2 - 9 1354 c.1348C>T c.(1348-1350)CGG>TGG p.R450W ADCY4_uc001wow.2_Missense_Mutation_p.R450W|ADCY4_uc010toh.1_Missense_Mutation_p.R136W|ADCY4_uc001wox.2_Missense_Mutation_p.R450W|ADCY4_uc001woy.2_Missense_Mutation_p.R450W NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 450 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) GCTTTTACCCGTGGATCGATG 0.607 NA 19 47 0 0 0.021523 0 0 SPTB 6710 broad.mit.edu 37 14 65264536 65264536 + Missense_Mutation SNP G G C TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr14:65264536G>C uc001xht.2 - 9 1147 c.1093C>G c.(1093-1095)CTA>GTA p.L365V SPTB_uc001xhr.2_Missense_Mutation_p.L365V|SPTB_uc001xhs.2_Missense_Mutation_p.L365V|SPTB_uc001xhu.2_Missense_Mutation_p.L365V NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 365 Spectrin 1. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GTAAAAAGTAGAACTTCCAGA 0.433 NA 50 140 0 0 0.01441 0 0 PLD4 122618 broad.mit.edu 37 14 105395177 105395177 + Missense_Mutation SNP C C G TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr14:105395177C>G uc001ypu.1 + 4 517 c.376C>G c.(376-378)CTG>GTG p.L126V PLD4_uc010tyl.1_Missense_Mutation_p.L133V NM_138790 NP_620145 Q96BZ4 PLD4_HUMAN phospholipase D4 126 lipid catabolic process integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity central_nervous_system(1)|skin(1) 2 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116) Choline(DB00122) GCTGCAGCTGCTGGACACTGC 0.657 NA 9 37 0 0 0.010729 0 0 CHRNA7 1139 broad.mit.edu 37 15 32460235 32460235 + Missense_Mutation SNP G G A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr15:32460235G>A uc001zft.2 + 10 1157 c.1085G>A c.(1084-1086)CGG>CAG p.R362Q uc001zfv.1_Intron|CHRNA7_uc010baf.2_Missense_Mutation_p.R181Q|CHRNA7_uc010bak.2_Missense_Mutation_p.R277Q NM_000746 NP_000737 P36544 ACHA7_HUMAN cholinergic receptor, nicotinic, alpha 7 362 Cytoplasmic (Potential). activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding ovary(1) 1 all_lung(180;6.35e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) Nicotine(DB00184)|Varenicline(DB01273) CACAAGCAGCGGCGCTGCAGC 0.692 Esophageal Squamous(193;529 2900 40232 43193) NA 5 38 0 0 0.00499 0 0 VPS18 57617 broad.mit.edu 37 15 41194859 41194859 + Missense_Mutation SNP G G T TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr15:41194859G>T uc001zne.2 + 5 2581 c.2242G>T c.(2242-2244)GAT>TAT p.D748Y NM_020857 NP_065908 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 748 Clathrin. endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding ovary(2)|large_intestine(1) 3 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GCCTGAGGAGGATGAGGAATT 0.602 NA 17 44 1.00905e-13 1.21679e-13 0.008871 1 0 UBR1 197131 broad.mit.edu 37 15 43268937 43268937 + Missense_Mutation SNP C C G TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr15:43268937C>G uc001zqq.2 - 39 4413 c.4347G>C c.(4345-4347)CAG>CAC p.Q1449H NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1449 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) TAAGTAGTATCTGAAGCATGT 0.388 NA 3 144 0 0 0.004672 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92459366 92459366 + Silent SNP G G A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr15:92459366G>A uc002bqx.2 + 2 525 c.324G>A c.(322-324)CTG>CTA p.L108L SLCO3A1_uc002bqy.2_Silent_p.L108L|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Silent_p.L50L NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, 108 Helical; Name=3; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity skin(1) 1 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) GGCCGCGCCTGATCGGCTGCG 0.682 NA 3 12 0 0 0.006214 0 0 SCNN1G 6340 broad.mit.edu 37 16 23200956 23200956 + Missense_Mutation SNP G G C TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr16:23200956G>C uc002dlm.1 + 3 721 c.582G>C c.(580-582)ATG>ATC p.M194I NM_001039 NP_001030 P51170 SCNNG_HUMAN sodium channel, nonvoltage-gated 1, gamma 194 Extracellular (By similarity). excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) CAAATGTCATGCACATCGAGT 0.512 NA 63 228 0 0 0.01441 0 0 C16orf93 90835 broad.mit.edu 37 16 30768826 30768826 + Missense_Mutation SNP G G A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr16:30768826G>A uc002dzm.2 - 9 1298 c.967C>T c.(967-969)CCG>TCG p.P323S C16orf93_uc002dzn.2_Missense_Mutation_p.P388S|C16orf93_uc002dzo.2_Missense_Mutation_p.P286S NM_001014979 NP_001014979 A1A4V9 CP093_HUMAN hypothetical protein LOC90835 323 0 CCTTTACCCGGAGGTAGCTGG 0.597 NA 105 314 0 0 0.01441 0 0 HYDIN 54768 broad.mit.edu 37 16 71025246 71025246 + Missense_Mutation SNP G G T TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr16:71025246G>T uc002ezr.2 - 25 3967 c.3839C>A c.(3838-3840)ACG>AAG p.T1280K NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 1280 ovary(1)|skin(1) 2 Ovarian(137;0.0654) GGAAGCTTTCGTTTTTCTTAG 0.463 NA 29 65 1.74807e-11 2.0189e-11 0.010818 1 0 DNAH9 1770 broad.mit.edu 37 17 11696840 11696840 + Silent SNP G G T TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr17:11696840G>T uc002gne.2 + 42 8150 c.8082G>T c.(8080-8082)GTG>GTT p.V2694V DNAH9_uc010coo.2_Silent_p.V1988V NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2694 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCTCCTCAGTGGAATGTGTGA 0.393 NA 45 115 3.54909e-21 4.40947e-21 0.011902 1 0 THEG 51298 broad.mit.edu 37 19 362332 362332 + Silent SNP G G A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr19:362332G>A uc002lol.2 - 8 1047 c.1008C>T c.(1006-1008)ATC>ATT p.I336I THEG_uc002lom.2_Silent_p.I312I NM_016585 NP_057669 Q9P2T0 THEG_HUMAN Theg homolog isoform 1 336 THEG 6. cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding ovary(1) 1 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGGGAGATGATCCGGGGGC 0.617 NA 39 59 0 0 0.006999 0 0 STK11 6794 broad.mit.edu 37 19 1221229 1221229 + Missense_Mutation SNP G G T TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr19:1221229G>T uc002lrl.1 + 6 1867 c.752G>T c.(751-753)GGT>GTT p.G251V NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 251 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(2)|p.Y246fs*3(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) ATCACCACGGGTCTGTACCCC 0.592 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 10 13 1.58986e-06 1.76174e-06 0.008291 1 0 ZNF536 9745 broad.mit.edu 37 19 30936284 30936284 + Silent SNP G G C TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr19:30936284G>C uc002nsu.1 + 2 1953 c.1815G>C c.(1813-1815)CGG>CGC p.R605R ZNF536_uc010edd.1_Silent_p.R605R NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 605 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) AAAGCAGTCGGGATTTTTTGT 0.552 NA 52 121 0 0 0.01441 0 0 ADD2 119 broad.mit.edu 37 2 70905951 70905951 + Missense_Mutation SNP G G A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr2:70905951G>A uc002sgz.2 - 11 1733 c.1268C>T c.(1267-1269)GCC>GTC p.A423V ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.A423V|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Missense_Mutation_p.A423V|ADD2_uc010fdt.1_Missense_Mutation_p.A423V|ADD2_uc002shc.1_Missense_Mutation_p.A423V|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Missense_Mutation_p.A439V NM_001617 NP_001608 P35612 ADDB_HUMAN adducin 2 isoform a 423 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding ovary(2)|pancreas(1) 3 CTGCTTCTGGGCATGCTGTCG 0.607 NA 5 235 0 0 0.001168 0 0 AAMP 14 broad.mit.edu 37 2 219132260 219132260 + Silent SNP G G A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr2:219132260G>A uc002vhk.2 - 3 435 c.351C>T c.(349-351)TTC>TTT p.F117F PNKD_uc002vhn.2_5'Flank|AAMP_uc002vhj.2_Silent_p.F98F|AAMP_uc010fvo.2_Silent_p.F117F|AAMP_uc002vhl.2_Silent_p.F118F|PNKD_uc002vhm.1_5'Flank NM_001087 NP_001078 Q13685 AAMP_HUMAN angio-associated, migratory cell protein 117 WD 1. angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding ovary(1) 1 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCGCCATACGAAGGCTTTGT 0.552 NA 27 71 0 0 0.005524 0 0 GGTLC1 92086 broad.mit.edu 37 20 23967157 23967157 + Missense_Mutation SNP A A G TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr20:23967157A>G uc002wts.2 - 2 225 c.92T>C c.(91-93)ATG>ACG p.M31T GGTLC1_uc002wtu.2_Missense_Mutation_p.M31T NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 31 gamma-glutamyltransferase activity ovary(1) 1 GTCATCCGGCATGTAGAACTC 0.622 NA 3 31 0 0 0.004672 0 0 CDH26 60437 broad.mit.edu 37 20 58547105 58547105 + Missense_Mutation SNP C C T TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr20:58547105C>T uc002ybe.2 + 4 620 c.320C>T c.(319-321)TCT>TTT p.S107F CDH26_uc010zzy.1_RNA NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 107 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) GGTTTGTTTTCTCTAGAAGAT 0.388 NA 37 102 0 0 0.019004 0 0 SON 6651 broad.mit.edu 37 21 34927023 34927023 + Missense_Mutation SNP C C A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr21:34927023C>A uc002yse.1 + 3 5535 c.5486C>A c.(5485-5487)TCC>TAC p.S1829Y SON_uc002ysb.1_Missense_Mutation_p.S1829Y|SON_uc002ysc.2_Missense_Mutation_p.S1829Y|SON_uc002ysd.2_Missense_Mutation_p.S820Y|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S820Y NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 1829 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 AGTAAGCGTTCCAAATCTTCT 0.418 NA 36 53 8.16277e-20 9.99026e-20 0.006999 1 0 MYO18B 84700 broad.mit.edu 37 22 26351204 26351204 + Silent SNP G G A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr22:26351204G>A uc003abz.1 + 39 6280 c.6030G>A c.(6028-6030)GCG>GCA p.A2010A MYO18B_uc003aca.1_Silent_p.A1891A|MYO18B_uc010guy.1_Silent_p.A1892A|MYO18B_uc010guz.1_Silent_p.A1890A|MYO18B_uc011aka.1_Silent_p.A1164A|MYO18B_uc011akb.1_Silent_p.A1523A|MYO18B_uc010gva.1_Silent_p.A8A NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2010 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 TTTCACAGGCGGCCACCTCCG 0.647 NA 5 11 0 0 0.001168 0 0 SCO2 9997 broad.mit.edu 37 22 50962600 50962600 + Missense_Mutation SNP C C T TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr22:50962600C>T uc003bma.2 - 2 417 c.241G>A c.(241-243)GAG>AAG p.E81K SCO2_uc003blz.3_Missense_Mutation_p.E81K NM_005138 NP_005129 O43819 SCO2_HUMAN cytochrome oxidase deficient homolog 2 81 cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly mitochondrial inner membrane copper ion binding 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTCTCCTTCTCAGCCCTCAGG 0.692 NA 18 31 0 0 0.012319 0 0 TRIM71 131405 broad.mit.edu 37 3 32932170 32932170 + Missense_Mutation SNP G G A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr3:32932170G>A uc003cff.2 + 4 1537 c.1474G>A c.(1474-1476)GAT>AAT p.D492N NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN tripartite motif-containing 71 492 Filamin. multicellular organismal development cytoplasm zinc ion binding ovary(2)|large_intestine(1) 3 GGCCACAGGCGATGGCCTCAA 0.587 NA 27 53 0 0 0.007291 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C T rs121913403 TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr3:41266113C>T uc010hia.1 + 4 266 c.110C>T c.(109-111)TCT>TTT p.S37F CTNNB1_uc003ckp.2_Missense_Mutation_p.S37F|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37F|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37F|CTNNB1_uc011azf.1_Missense_Mutation_p.S30F|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 37 S -> C (in PTR, hepatoblastoma and ovarian cancer).|SG -> W (in hepatocellular carcinoma).|S -> F (in PTR).|S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> Y (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S37F(147)|p.S37C(124)|p.A5_A80del(63)|p.S37A(59)|p.S37Y(23)|p.S37P(16)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.GIHS34?(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.V22_T102del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.G34_S37del(1)|p.I35_S37>T(1)|p.I35_K170del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.S37S(1)|p.S37T(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.S37_G38>W(1)|p.A5_Q143>E(1)|p.I35_G38del(1)|p.H36_E53>L(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.S37_A39>S(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.I35_T41del(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1) CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GGAATCCATTCTGGTGCCACT 0.498 Colon(6;3 56 14213 18255) S37F(HUTU80_SMALL_INTESTINE)|S37C(SNU398_LIVER)|S37C(JHUEM2_ENDOMETRIUM) 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 15 31 0 0 0.003163 0 0 SEMA3F 6405 broad.mit.edu 37 3 50211518 50211518 + Nonsense_Mutation SNP G G T TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr3:50211518G>T uc003cyj.2 + 4 505 c.307G>T c.(307-309)GAA>TAA p.E103* SEMA3F_uc003cyk.2_Nonsense_Mutation_p.E103* NM_004186 NP_004177 Q13275 SEM3F_HUMAN semaphorin 3F precursor 103 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity lung(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) GCGCATCGAGGAATGCGTGCT 0.627 NA 19 48 1.10923e-09 1.26329e-09 0.016522 1 0 HTR3C 170572 broad.mit.edu 37 3 183773963 183773963 + Splice_Site SNP A A T TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr3:183773963A>T uc003fmk.2 + 4 314 c.280_splice c.e4-2 p.V94_splice NM_130770 NP_570126 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine receptor 3 subunit C integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GCCCTGATGCAGGTATGGGAC 0.488 NA 37 44 0 0 0.017118 0 0 PPP3CA 5530 broad.mit.edu 37 4 101947129 101947129 + Missense_Mutation SNP T T C TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr4:101947129T>C uc011cen.1 - 14 2134 c.1459A>G c.(1459-1461)AGA>GGA p.R487G PPP3CA_uc003hvu.2_Missense_Mutation_p.R477G|PPP3CA_uc010ilj.2_Missense_Mutation_p.R435G|PPP3CA_uc003hvt.2_Missense_Mutation_p.R464G|PPP3CA_uc003hvs.2_Missense_Mutation_p.R420G|PPP3CA_uc010ilk.2_Missense_Mutation_p.R255G NM_000944 NP_000935 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha 487 Inhibitory domain. protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) ATGGCATCTCTGCGAGGCGGC 0.478 NA 4 226 0 0 0.009096 0 0 TLR3 7098 broad.mit.edu 37 4 187003653 187003653 + Silent SNP A A G TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr4:187003653A>G uc003iyq.2 + 4 914 c.813A>G c.(811-813)CTA>CTG p.L271L TLR3_uc011ckz.1_5'UTR|TLR3_uc003iyr.2_5'UTR NM_003265 NP_003256 O15455 TLR3_HUMAN toll-like receptor 3 precursor 271 Lumenal (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity ovary(2)|prostate(1)|lung(1)|breast(1) 5 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TCTTGGGACTAAAGTGGACAA 0.418 NA 50 88 0 0 0.01441 0 0 PDGFRB 5159 broad.mit.edu 37 5 149511607 149511607 + Missense_Mutation SNP T T G TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr5:149511607T>G uc003lro.2 - 8 1647 c.1178A>C c.(1177-1179)CAC>CCC p.H393P PDGFRB_uc010jhd.2_Missense_Mutation_p.H232P NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 393 Ig-like C2-type 4.|Extracellular (Potential). aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CATGGTGTAGTGGCCAGCCTC 0.433 NA T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML 8 20 0 0 0.008291 0 0 KIF4B 285643 broad.mit.edu 37 5 154396899 154396899 + Silent SNP C C G TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr5:154396899C>G uc010jih.1 + 1 3640 c.3480C>G c.(3478-3480)GTC>GTG p.V1160V NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1160 Interaction with PRC1 (By similarity).|Globular (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTAACCCTGTCTGTGCCACCC 0.532 NA 28 61 0 0 0.007291 0 0 RFPL4B 442247 broad.mit.edu 37 6 112671585 112671585 + Missense_Mutation SNP T T A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr6:112671585T>A uc003pvx.1 + 3 987 c.675T>A c.(673-675)AAT>AAA p.N225K NM_001013734 NP_001013756 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 225 B30.2/SPRY. zinc ion binding 0 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) ATGTTGACAATAATGTCCTCA 0.468 NA 25 84 0 0 0.021523 0 0 HGF 3082 broad.mit.edu 37 7 81332027 81332027 + Missense_Mutation SNP A A G TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr7:81332027A>G uc003uhl.2 - 18 2222 c.2057T>C c.(2056-2058)ATG>ACG p.M686T HGF_uc003uhm.2_Missense_Mutation_p.M681T NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 686 Peptidase S1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 ACCAAGAACCATTCTCATTTT 0.373 NA 30 74 0 0 0.009535 0 0 GRM3 2913 broad.mit.edu 37 7 86394780 86394780 + Missense_Mutation SNP G G C TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr7:86394780G>C uc003uid.2 + 2 1418 c.319G>C c.(319-321)GAG>CAG p.E107Q GRM3_uc010lef.2_Missense_Mutation_p.E105Q|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 107 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CTATGCATTGGAGCAATCACT 0.408 GBM(52;969 1098 3139 52280) NA 3 229 0 0 0.009096 0 0 AASS 10157 broad.mit.edu 37 7 121717989 121717989 + Silent SNP C C T TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr7:121717989C>T uc003vka.2 - 22 2661 c.2565G>A c.(2563-2565)ACG>ACA p.T855T AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.T855T|AASS_uc011knw.1_Silent_p.T343T NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 855 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) CAAGATCAATCGTTTTATGTT 0.413 NA 153 393 0 0 0.01441 0 0 CA8 767 broad.mit.edu 37 8 61178489 61178489 + Missense_Mutation SNP T T C TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr8:61178489T>C uc003xtz.1 - 3 660 c.412A>G c.(412-414)ATG>GTG p.M138V CA8_uc003xua.1_Missense_Mutation_p.M138V|CA8_uc003xub.2_Missense_Mutation_p.M138V NM_004056 NP_004047 P35219 CAH8_HUMAN carbonic anhydrase VIII 138 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding 0 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) CTTACCTCCATGGGAAAAGCT 0.363 NA 17 49 0 0 0.008871 0 0 TRMT12 55039 broad.mit.edu 37 8 125464156 125464156 + Nonsense_Mutation SNP G G T TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr8:125464156G>T uc003yra.3 + 1 1109 c.988G>T c.(988-990)GGA>TGA p.G330* NM_017956 NP_060426 Q53H54 TYW2_HUMAN homolog of yeast tRNA methyltransferase 12 330 tRNA processing methyltransferase activity upper_aerodigestive_tract(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GCAGGATGCTGGAGGCATTTT 0.488 NA 22 178 5.26018e-13 6.25123e-13 0.012319 1 0 TRMT12 55039 broad.mit.edu 37 8 125464490 125464490 + Missense_Mutation SNP G G C TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr8:125464490G>C uc003yra.3 + 1 1443 c.1322G>C c.(1321-1323)TGC>TCC p.C441S NM_017956 NP_060426 Q53H54 TYW2_HUMAN homolog of yeast tRNA methyltransferase 12 441 tRNA processing methyltransferase activity upper_aerodigestive_tract(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GATCTGGAATGCTGCCCCTGT 0.512 NA 15 114 0 0 0.003163 0 0 OC90 729330 broad.mit.edu 37 8 133051064 133051064 + Missense_Mutation SNP C C T TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr8:133051064C>T uc003ytg.2 - 6 553 c.553G>A c.(553-555)GAA>AAA p.E185K OC90_uc011lix.1_Missense_Mutation_p.E201K NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 201 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GTCAAGTCTTCCTTGATGGTT 0.512 NA 51 129 0 0 0.01441 0 0 OC90 729330 broad.mit.edu 37 8 133051249 133051249 + Silent SNP C C T TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr8:133051249C>T uc003ytg.2 - 5 531 c.531G>A c.(529-531)CAG>CAA p.Q177Q OC90_uc011lix.1_Silent_p.Q193Q NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 193 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) TACCTGGAGTCTGAGCCAGGC 0.537 NA 57 199 0 0 0.01441 0 0 OC90 729330 broad.mit.edu 37 8 133051317 133051317 + Missense_Mutation SNP C C T TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr8:133051317C>T uc003ytg.2 - 5 463 c.463G>A c.(463-465)GAG>AAG p.E155K OC90_uc011lix.1_Missense_Mutation_p.E171K NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 171 Phospholipase A2-like 1. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GCCAAGCACTCTATGGCAGCC 0.502 NA 48 125 0 0 0.01441 0 0 FLJ43860 389690 broad.mit.edu 37 8 142487879 142487879 + Silent SNP C C T TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr8:142487879C>T uc003ywi.2 - 11 1443 c.1362G>A c.(1360-1362)CTG>CTA p.L454L FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 454 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) AACACACCATCAGACACTGGA 0.617 NA 16 32 0 0 0.004007 0 0 FAM108B1 51104 broad.mit.edu 37 9 74481838 74481838 + Silent SNP G G C TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr9:74481838G>C uc004aim.1 - 4 1334 c.732C>G c.(730-732)CTC>CTG p.L244L FAM108B1_uc004ail.2_Silent_p.L244L NM_001025780 NP_001020951 Q5VST6 F108B_HUMAN family with sequence similarity 108, member B1 244 extracellular region hydrolase activity 0 CAAACAATGCGAGGCCATGTG 0.423 NA 28 64 0 0 0.004656 0 0 NRK 203447 broad.mit.edu 37 X 105190394 105190394 + Missense_Mutation SNP G G A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chrX:105190394G>A uc004emd.2 + 26 4594 c.4291G>A c.(4291-4293)GAT>AAT p.D1431N NRK_uc011msi.1_5'Flank NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1431 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 CAGCTCAGCAGATGGATATCA 0.378 NA HNSCC(51;0.14) 4 68 0 0 0.014758 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135827450 135827450 + Missense_Mutation SNP A A T TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chrX:135827450A>T uc004fab.2 - 4 853 c.391T>A c.(391-393)TCT>ACT p.S131T ARHGEF6_uc011mwd.1_5'UTR|ARHGEF6_uc011mwe.1_5'UTR NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 131 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) TTTGTCTGAGAAGTATTAGCA 0.448 NA 144 110 0 0 0.01441 0 0 SLITRK2 84631 broad.mit.edu 37 X 144904729 144904729 + Silent SNP C C A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chrX:144904729C>A uc004fcd.2 + 5 1776 c.786C>A c.(784-786)CTC>CTA p.L262L SLITRK2_uc010nsp.2_Silent_p.L262L|SLITRK2_uc010nso.2_Silent_p.L262L|SLITRK2_uc011mwq.1_Silent_p.L262L|SLITRK2_uc011mwr.1_Silent_p.L262L|SLITRK2_uc011mws.1_Silent_p.L262L|SLITRK2_uc004fcg.2_Silent_p.L262L|SLITRK2_uc011mwt.1_Silent_p.L262L NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 262 Extracellular (Potential).|LRRCT 1. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) GGCAAGACCTCTGTCCCAGAA 0.522 NA 62 44 3.30712e-30 4.17206e-30 0.01441 1 0 Unknown 0 broad.mit.edu 37 X 155252782 155252782 + Missense_Mutation SNP A A G TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chrX:155252782A>G uc004fnw.1 + 6 1485 c.826A>G c.(826-828)AGT>GGT p.S276G uc004fnx.3_Missense_Mutation_p.S62G NM_182905 NP_878908 WAS protein family homolog 1 NA CCTCATGTACAGTGCCGACCT 0.602 NA 3 10 0 0 0.014758 0 0 ZBTB8A 653121 broad.mit.edu 37 1 33065979 33065981 + In_Frame_Del DEL GAA GAA - TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 GAA GAA - - GAA GAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr1:33065979_33065981delGAA uc001bvn.2 + 5 1770_1772 c.1285_1287delGAA c.(1285-1287)GAAdel p.E433del ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_3'UTR|ZBTB8OS_uc001bvo.1_Intron NM_001040441 NP_001035531 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 433 Poly-Glu. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGATGATAGTGAAGAAGAAGAAG 0.414 NA 7 126 --- --- --- --- NA NA NA NA NA LINGO4 339398 broad.mit.edu 37 1 151773518 151773518 + Frame_Shift_Del DEL C C - TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr1:151773518delC uc001ezf.1 - 2 1853 c.1663delG c.(1663-1665)GCCfs p.A555fs NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 555 Cytoplasmic (Potential). integral to membrane large_intestine(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CTCCAAAGGGCAATCAGGCCA 0.567 NA 12 518 --- --- --- --- NA NA NA NA NA NFE2L2 4780 broad.mit.edu 37 2 178098919 178098942 + In_Frame_Del DEL TCGCTGACTGAAGTCAAATACTTC TCGCTGACTGAAGTCAAATACTTC - TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 TCGCTGACTGAAGTCAAATACTTC TCGCTGACTGAAGTCAAATACTTC - - TCGCTGACTGAAGTCAAATACTTC TCGCTGACTGAAGTCAAATACTTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr2:178098919_178098942delTCGCTGACTGAAGTCAAATACTTC uc002ulh.3 - 2 658_681 c.103_126delGAAGTATTTGACTTCAGTCAGCGA c.(103-126)GAAGTATTTGACTTCAGTCAGCGAdel p.EVFDFSQR35del NFE2L2_uc002ulg.3_In_Frame_Del_p.EVFDFSQR19del|NFE2L2_uc010zfa.1_In_Frame_Del_p.EVFDFSQR19del|NFE2L2_uc002uli.3_In_Frame_Del_p.EVFDFSQR19del|NFE2L2_uc010fra.2_In_Frame_Del_p.EVFDFSQR19del|NFE2L2_uc010frb.2_In_Frame_Del_p.EVFDFSQR19del NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 35_42 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ACTCTTTCCGTCGCTGACTGAAGTCAAATACTTCTCGACTTACT 0.379 NA Mis NSCLC|HNSCC HNSCC(56;0.16) 7 61 --- --- --- --- NA NA NA NA NA DHX15 1665 broad.mit.edu 37 4 24534645 24534649 + Frame_Shift_Del DEL AGTTG AGTTG - TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 AGTTG AGTTG - - AGTTG AGTTG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr4:24534645_24534649delAGTTG uc003gqx.2 - 12 2106_2110 c.1938_1942delCAACT c.(1936-1944)GACAACTTCfs p.D646fs DHX15_uc003gqv.2_Frame_Shift_Del_p.D52fs|DHX15_uc003gqw.2_Frame_Shift_Del_p.D69fs NM_001358 NP_001349 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 15 646_648 mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(1) 1 Breast(46;0.0503) TAGTTAATGAAGTTGTCATAACACC 0.424 NA 33 244 --- --- --- --- NA NA NA NA NA C9orf3 84909 broad.mit.edu 37 9 97522333 97522333 + Frame_Shift_Del DEL T T - TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a5370f18-e8a9-43d8-9eb8-be678ccd4669 75ce6746-09a7-4d8f-9015-b79da0dc9a55 g.chr9:97522333delT uc004ava.2 + 1 403 c.268delT c.(268-270)TTCfs p.F90fs C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Frame_Shift_Del_p.F90fs|C9orf3_uc004auy.2_Frame_Shift_Del_p.F90fs|C9orf3_uc004auz.1_Frame_Shift_Del_p.F90fs NM_032823 NP_116212 Q8N6M6 AMPO_HUMAN aminopeptidase O 90 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.000275) TGCAAGGACCTTCTCATCTGA 0.403 NA 80 194 --- --- --- --- NA NA NA NA NA