Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut GPR153 387509 broad.mit.edu 37 1 6313858 6313858 + Missense_Mutation SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr1:6313858C>T uc001amp.1 - 3 966 c.706G>A c.(706-708)GCC>ACC p.A236T NM_207370 NP_997253 Q6NV75 GP153_HUMAN G protein-coupled receptor 153 236 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 Ovarian(185;0.0634) all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246) GAGGTTTTGGCGGGCTCCGAG 0.677 NA 3 61 0 0 0 0 LHX9 56956 broad.mit.edu 37 1 197896796 197896796 + Missense_Mutation SNP T T C TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr1:197896796T>C uc001guk.1 + 4 1246 c.809T>C c.(808-810)ATG>ACG p.M270T LHX9_uc001gui.1_Missense_Mutation_p.M261T|LHX9_uc001guj.1_Missense_Mutation_p.M276T NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN LIM homeobox 9 isoform 1 270 Homeobox. motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 ACCAAGCGCATGCGAACCTCT 0.522 NA 9 348 0 0 0 0 CNTN2 6900 broad.mit.edu 37 1 205038678 205038678 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr1:205038678G>A uc001hbr.2 + 17 2454 c.2185G>A c.(2185-2187)GTC>ATC p.V729I CNTN2_uc001hbq.1_Missense_Mutation_p.V620I|CNTN2_uc001hbs.2_Missense_Mutation_p.V517I NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 729 Fibronectin type-III 2. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGAGCTCATCGTCAACTGGAC 0.612 NA 3 34 0 0 0 0 BMS1 9790 broad.mit.edu 37 10 43318580 43318580 + Silent SNP T T A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr10:43318580T>A uc001jaj.2 + 20 3505 c.3147T>A c.(3145-3147)TCT>TCA p.S1049S NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 1049 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 TGTTTAATTCTGCCTTGGAAG 0.403 NA 4 165 0 0 0 0 SORCS1 114815 broad.mit.edu 37 10 108448071 108448071 + Missense_Mutation SNP A A G TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr10:108448071A>G uc001kym.2 - 10 1447 c.1439T>C c.(1438-1440)TTG>TCG p.L480S SORCS1_uc001kyl.2_Missense_Mutation_p.L480S|SORCS1_uc009xxs.2_Missense_Mutation_p.L480S|SORCS1_uc001kyn.1_Missense_Mutation_p.L480S|SORCS1_uc001kyo.2_Missense_Mutation_p.L480S NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 480 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CTTGTTAGCCAAGAACATTCC 0.403 NA 3 96 0 0 0 0 PTPRE 5791 broad.mit.edu 37 10 129877950 129877950 + Silent SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr10:129877950G>A uc001lkb.2 + 20 2298 c.2019G>A c.(2017-2019)GTG>GTA p.V673V PTPRE_uc009yat.2_Silent_p.V684V|PTPRE_uc009yau.2_Silent_p.V673V|PTPRE_uc001lkd.2_Silent_p.V615V|PTPRE_uc010quq.1_Intron NM_006504 NP_006495 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 673 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(1) 1 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) CACATATGGTGCAAACCCTGG 0.383 NA 27 100 0 0 0 0 KCNA4 3739 broad.mit.edu 37 11 30032800 30032800 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr11:30032800G>A uc001msk.2 - 2 2578 c.1426C>T c.(1426-1428)CGG>TGG p.R476W NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 476 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CCCAGTTCCCGCATGCTGGCT 0.522 NA 8 79 0 0 0 0 OR4A5 81318 broad.mit.edu 37 11 51411725 51411725 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr11:51411725G>A uc001nhi.1 - 1 671 c.671C>T c.(670-672)ACT>ATT p.T224I NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 224 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) CTGACTGTAAGTTTTAAGGGA 0.413 NA 13 102 0 0 0 0 SLC22A25 387601 broad.mit.edu 37 11 62997044 62997044 + Missense_Mutation SNP G G C TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr11:62997044G>C uc001nwr.1 - 1 81 c.81C>G c.(79-81)TTC>TTG p.F27L SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_Missense_Mutation_p.F27L NM_199352 NP_955384 Q6T423 S22AP_HUMAN putative UST1-like organic anion transporter 27 Helical; Name=1; (Potential). transmembrane transport integral to membrane ovary(3)|skin(1) 4 CTATGACGTTGAACATTATAA 0.463 NA 5 123 0 0 0 0 SC5DL 6309 broad.mit.edu 37 11 121178029 121178029 + Silent SNP T T C TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr11:121178029T>C uc001pxu.2 + 5 856 c.708T>C c.(706-708)TTT>TTC p.F236F SC5DL_uc001pxt.2_3'UTR|SC5DL_uc001pxv.2_Silent_p.F236F NM_006918 NP_008849 O75845 SC5D_HUMAN sterol-C5-desaturase 236 PQILQPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKN PSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTK TE -> RMKNYSMESLQRLNRLLPSYS (in Ref. 1; BAA18970). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity ovary(1) 1 Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) OV - Ovarian serous cystadenocarcinoma(1;0.0334) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144) ATATGTTCTTTGACTATAATT 0.413 NA 10 191 0 0 0 0 KRT7 3855 broad.mit.edu 37 12 52639289 52639289 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr12:52639289G>A uc001saa.1 + 7 1205 c.1078G>A c.(1078-1080)GCC>ACC p.A360T KRT7_uc009zmf.1_Intron NM_005556 NP_005547 P08729 K2C7_HUMAN keratin 7 360 Rod.|Coil 2. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.105) GCTGGAAGCCGCCCTGCAGCG 0.652 NA 5 54 0 0 0 0 HECTD1 25831 broad.mit.edu 37 14 31602803 31602803 + Silent SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr14:31602803C>T uc001wrc.1 - 23 4146 c.3657G>A c.(3655-3657)GGG>GGA p.G1219G HECTD1_uc001wrd.1_Silent_p.G734G NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1219 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TGGCATTTTTCCCCATCTGTT 0.403 NA 27 101 0 0 0 0 SAMD4A 23034 broad.mit.edu 37 14 55168922 55168922 + Silent SNP T T C TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr14:55168922T>C uc001xbb.2 + 2 337 c.336T>C c.(334-336)ATT>ATC p.I112I SAMD4A_uc001xba.2_Silent_p.I112I|SAMD4A_uc001xbc.2_Silent_p.I112I|SAMD4A_uc001xbf.1_RNA|SAMD4A_uc001xbe.2_Silent_p.I12I NM_015589 NP_056404 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4 isoform 113 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity 0 CTCACTCTATTGAACACAACC 0.483 NA 26 88 0 0 0 0 TMEM202 338949 broad.mit.edu 37 15 72691006 72691006 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr15:72691006G>A uc002auq.2 + 2 94 c.94G>A c.(94-96)GCC>ACC p.A32T TMEM202_uc002aur.2_Intron NM_001080462 NP_001073931 A6NGA9 TM202_HUMAN transmembrane protein 202 32 integral to membrane central_nervous_system(1)|skin(1) 2 TACCGTCCCTGCCAAGAAACA 0.532 NA 17 65 0 0 0 0 CACNA1H 8912 broad.mit.edu 37 16 1250512 1250512 + Missense_Mutation SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr16:1250512C>T uc002cks.2 + 7 1308 c.1060C>T c.(1060-1062)CCC>TCC p.P354S CACNA1H_uc002ckt.2_Missense_Mutation_p.P354S NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 354 Extracellular (Potential).|I. aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TGACTCCAACCCCCACAACGG 0.652 NA 3 67 0 0 0 0 ABCC11 85320 broad.mit.edu 37 16 48221269 48221269 + Missense_Mutation SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr16:48221269C>T uc002eff.1 - 20 3126 c.2776G>A c.(2776-2778)GAC>AAC p.D926N ABCC11_uc002efg.1_Missense_Mutation_p.D926N|ABCC11_uc002efh.1_Missense_Mutation_p.D926N|ABCC11_uc010vgk.1_RNA|ABCC11_uc010cbg.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 926 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TGTTCCAAGTCCCCTGCGAAG 0.527 NA Cerumen_Type 21 37 0 0 0 0 VPS4A 27183 broad.mit.edu 37 16 69349972 69349972 + Missense_Mutation SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr16:69349972C>T uc002eww.2 + 2 211 c.83C>T c.(82-84)GCG>GTG p.A28V NM_013245 NP_037377 Q9UN37 VPS4A_HUMAN vacuolar protein sorting factor 4A 28 Interaction with CHMP1B.|MIT. cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding 0 Ovarian(137;0.101) TACGAGGAGGCGCTGCGGCTG 0.577 NA 4 115 0 0 0 0 WWP2 11060 broad.mit.edu 37 16 69922039 69922039 + Silent SNP C C A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr16:69922039C>A uc002exu.1 + 9 890 c.801C>A c.(799-801)CCC>CCA p.P267P WWP2_uc002ext.2_Silent_p.P267P|WWP2_uc002exv.1_Silent_p.P267P|WWP2_uc010vlm.1_Silent_p.P151P NM_007014 NP_008945 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 267 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity lung(3)|ovary(1)|breast(1)|skin(1) 6 CCCCGAATCCCAACACGACTT 0.617 NA 20 78 4.35e-09 4.86e-09 1 0 CHST6 4166 broad.mit.edu 37 16 75512887 75512887 + Silent SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr16:75512887C>T uc002fef.2 - 3 1020 c.840G>A c.(838-840)CCG>CCA p.P280P CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.P280P NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 280 Lumenal (Potential). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 TTTCTGCCAGCGGCTCCCGCG 0.662 NA 15 49 0 0 0 0 SLC13A5 284111 broad.mit.edu 37 17 6606290 6606290 + Missense_Mutation SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr17:6606290C>T uc002gdj.2 - 5 803 c.715G>A c.(715-717)GAG>AAG p.E239K SLC13A5_uc010vtf.1_Missense_Mutation_p.E239K|SLC13A5_uc010clq.2_Missense_Mutation_p.E196K|SLC13A5_uc002gdk.2_Missense_Mutation_p.E222K|SLC13A5_uc002gdl.1_Missense_Mutation_p.E221K NM_177550 NP_808218 Q86YT5 S13A5_HUMAN solute carrier family 13, member 5 isoform a 239 integral to membrane citrate transmembrane transporter activity 0 AGGACTCACTCGTTCATCTGG 0.647 NA 22 95 0 0 0 0 DLX3 1747 broad.mit.edu 37 17 48070809 48070809 + Silent SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr17:48070809G>A uc002ipy.2 - 2 697 c.471C>T c.(469-471)CCC>CCT p.P157P NM_005220 NP_005211 O60479 DLX3_HUMAN distal-less homeobox 3 157 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CGGCGCGCTCGGGCAGCGCCA 0.706 NA 7 22 0 0 0 0 GRIN2C 2905 broad.mit.edu 37 17 72840467 72840467 + Missense_Mutation SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr17:72840467C>T uc002jlt.1 - 12 2687 c.2531G>A c.(2530-2532)CGC>CAC p.R844H GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.R844H NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 844 Cytoplasmic (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) CACCGAGTGGCGCAGCTTCCA 0.617 NA 4 110 0 0 0 0 SLC26A11 284129 broad.mit.edu 37 17 78195395 78195395 + Missense_Mutation SNP G G T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr17:78195395G>T uc002jyb.1 + 3 305 c.36G>T c.(34-36)AGG>AGT p.R12S SGSH_uc002jxz.3_5'Flank|SGSH_uc002jya.3_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.1_Missense_Mutation_p.R12S|SLC26A11_uc002jyd.1_Missense_Mutation_p.R12S|SLC26A11_uc010dhv.1_Missense_Mutation_p.R12S NM_173626 NP_775897 Q86WA9 S2611_HUMAN solute carrier family 26, member 11 12 Extracellular (Potential). endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity 0 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GTCAGGCCAGGTCCTCTGGCC 0.687 NA 7 19 0.00621372 0.00671753 1 0 KIAA0802 23255 broad.mit.edu 37 18 8825333 8825333 + Silent SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr18:8825333G>A uc002knr.2 + 15 3967 c.3825G>A c.(3823-3825)GAG>GAA p.E1275E KIAA0802_uc002knq.2_Silent_p.E1234E|KIAA0802_uc002kns.2_Silent_p.E615E NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 1585 0 ACAGCCTGGAGATGTCCAAGA 0.617 NA 20 51 0 0 0 0 PNPLA6 10908 broad.mit.edu 37 19 7605584 7605584 + Silent SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr19:7605584G>A uc010xjq.1 + 8 1005 c.810G>A c.(808-810)CTG>CTA p.L270L PNPLA6_uc002mgq.1_Silent_p.L222L|PNPLA6_uc010xjp.1_Silent_p.L222L|PNPLA6_uc002mgr.1_Silent_p.L222L|PNPLA6_uc002mgs.2_Silent_p.L261L NM_006702 NP_006693 Q8IY17 PLPL6_HUMAN neuropathy target esterase isoform b 261 cNMP 1.|Cytoplasmic (Potential). cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity ovary(3) 3 TCAGCATCCTGGATGTCATCA 0.587 NA 5 127 0 0 0 0 ILF3 3609 broad.mit.edu 37 19 10793296 10793296 + Silent SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr19:10793296G>A uc002mpn.2 + 13 1781 c.1464G>A c.(1462-1464)GCG>GCA p.A488A ILF3_uc002mpm.2_Silent_p.A488A|ILF3_uc002mpl.2_Silent_p.A488A|ILF3_uc002mpk.2_Silent_p.A488A|ILF3_uc010xli.1_Silent_p.A86A|ILF3_uc002mpo.2_Silent_p.A488A|ILF3_uc002mpp.2_Silent_p.A309A NM_012218 NP_036350 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3 isoform a 488 M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding|protein binding ovary(3) 3 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) AGACCGAGGCGAAGCCAGCAG 0.642 NA 6 51 0 0 0 0 QTRT1 81890 broad.mit.edu 37 19 10823854 10823854 + Missense_Mutation SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr19:10823854C>T uc002mpr.2 + 10 1145 c.1120C>T c.(1120-1122)CGG>TGG p.R374W DNM2_uc010dxk.2_RNA NM_031209 NP_112486 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 374 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity skin(1) 1 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) GGACTTCGTGCGGGACTTCAT 0.657 NA 20 97 0 0 0 0 CACNA1A 773 broad.mit.edu 37 19 13368242 13368242 + Silent SNP G G T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr19:13368242G>T uc010dze.2 - 28 4751 c.4515C>A c.(4513-4515)ATC>ATA p.I1505I CACNA1A_uc010xnd.1_Silent_p.I210I|CACNA1A_uc002mwx.3_Silent_p.I210I|CACNA1A_uc010dzc.2_Silent_p.I1030I|CACNA1A_uc002mwy.3_Silent_p.I1504I|CACNA1A_uc010xne.1_Silent_p.I1033I|CACNA1A_uc002mwv.3_Silent_p.I21I NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1505 III.|Helical; Name=S6 of repeat III; (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) AGGCCACAAAGATATTGACAA 0.502 NA 14 31 2.62e-11 2.96e-11 1 0 ZNF569 148266 broad.mit.edu 37 19 37904081 37904081 + Silent SNP G G T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr19:37904081G>T uc002ogi.2 - 6 2037 c.1479C>A c.(1477-1479)CCC>CCA p.P493P ZNF569_uc002ogh.2_Silent_p.P334P|ZNF569_uc002ogj.2_Silent_p.P517P NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 493 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGCATTCATAGGGTTTCTCTC 0.353 NA 31 92 2.66e-16 3.04e-16 1 0 GYS1 2997 broad.mit.edu 37 19 49494659 49494659 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr19:49494659G>A uc002plp.2 - 2 441 c.200C>T c.(199-201)CCG>CTG p.P67L GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Missense_Mutation_p.P67L|GYS1_uc010xzz.1_Intron|GYS1_uc010yaa.1_Intron|RUVBL2_uc002plq.1_5'Flank|RUVBL2_uc010yab.1_5'Flank|RUVBL2_uc002plr.1_5'Flank|RUVBL2_uc002pls.1_5'Flank|RUVBL2_uc010emn.1_5'Flank NM_002103 NP_002094 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) isoform 1 67 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding ovary(2) 2 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) CTCCGTGTACGGCCCCACCAG 0.637 NA 6 291 0 0 0 0 ZNF814 730051 broad.mit.edu 37 19 58385748 58385748 + Missense_Mutation SNP G G A rs145250945 TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr19:58385748G>A uc002qqo.2 - 3 1282 c.1010C>T c.(1009-1011)GCT>GTT p.A337V ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 337 C2H2-type 5. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 ACTGAAGCTAGCATATTTGCT 0.353 NA 3 11 0 0 0 0 EMX1 2016 broad.mit.edu 37 2 73161022 73161022 + Missense_Mutation SNP G G T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr2:73161022G>T uc002sin.1 + 3 1190 c.812G>T c.(811-813)CGG>CTG p.R271L EMX1_uc002sim.1_3'UTR NM_004097 NP_004088 Q04741 EMX1_HUMAN empty spiracles homolog 1 238 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CACATCAACCGGTGGCGCATT 0.577 NA 3 84 0.004672 0.00507826 1 0 SNRNP200 23020 broad.mit.edu 37 2 96970571 96970571 + Silent SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr2:96970571G>A uc002svu.2 - 2 167 c.81C>T c.(79-81)CTC>CTT p.L27L NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 27 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 TCCGGTCAATGAGAGAACGGT 0.507 NA 22 45 0 0 0 0 NCOA6 23054 broad.mit.edu 37 20 33345055 33345055 + Missense_Mutation SNP T T C TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr20:33345055T>C uc002xav.2 - 8 4067 c.1496A>G c.(1495-1497)CAG>CGG p.Q499R NCOA6_uc002xaw.2_Missense_Mutation_p.Q499R|NCOA6_uc010gew.1_Missense_Mutation_p.Q456R NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 499 TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 CTGTGGCCCCTGGTTTGGTGG 0.488 NA 6 273 0 0 0 0 KCNB1 3745 broad.mit.edu 37 20 48098552 48098552 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr20:48098552G>A uc002xur.1 - 1 630 c.466C>T c.(466-468)CGG>TGG p.R156W KCNB1_uc002xus.1_Missense_Mutation_p.R156W NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 156 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TCCCGCTCCCGTAGGGTCTCG 0.582 NA 46 117 0 0 0 0 ZGPAT 84619 broad.mit.edu 37 20 62340307 62340307 + Silent SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr20:62340307C>T uc002ygk.2 + 2 553 c.375C>T c.(373-375)GAC>GAT p.D125D ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Silent_p.D125D|ZGPAT_uc002ygj.2_Silent_p.D125D|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Silent_p.D125D|ZGPAT_uc002ygm.2_Silent_p.D125D|ZGPAT_uc002ygn.3_RNA NM_032527 NP_115916 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 125 Poly-Glu. negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) agggagaggacgaggaagagC 0.542 NA 5 70 0 0 0 0 ABCG1 9619 broad.mit.edu 37 21 43708124 43708124 + Missense_Mutation SNP C C G TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr21:43708124C>G uc002zaq.2 + 9 1205 c.1099C>G c.(1099-1101)CTT>GTT p.L367V ABCG1_uc002zan.2_Missense_Mutation_p.L369V|ABCG1_uc002zam.2_Missense_Mutation_p.L345V|ABCG1_uc002zao.2_Missense_Mutation_p.L364V|ABCG1_uc002zap.2_Missense_Mutation_p.L367V|ABCG1_uc002zar.2_Missense_Mutation_p.L378V|ABCG1_uc011aev.1_Missense_Mutation_p.L378V|ABCG1_uc010gpb.1_5'UTR NM_004915 NP_004906 P45844 ABCG1_HUMAN ATP-binding cassette sub-family G member 1 367 Cytoplasmic (Potential). amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity ovary(2)|central_nervous_system(1) 3 Adenosine triphosphate(DB00171) GAACCCTTTTCTTTGGCACCG 0.567 NA 17 238 0 0 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906486 164906486 + Silent SNP A A G TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr3:164906486A>G uc003fej.3 - 2 2577 c.2133T>C c.(2131-2133)GAT>GAC p.D711D SLITRK3_uc003fek.2_Silent_p.D711D NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 711 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 cacctccaccaTCCTCAAACA 0.458 NA HNSCC(40;0.11) 14 72 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr3:178936082G>A uc003fjk.2 + 10 1781 c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 PI3K helical. E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333 E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 139 67 0 0 0 0 IQCG 84223 broad.mit.edu 37 3 197665623 197665623 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr3:197665623G>A uc003fyo.2 - 4 457 c.311C>T c.(310-312)ACG>ATG p.T104M IQCG_uc003fyn.2_Missense_Mutation_p.T6M|IQCG_uc003fyp.2_Missense_Mutation_p.T104M|IQCG_uc003fyq.3_Missense_Mutation_p.T104M NM_001134435 NP_001127907 Q9H095 IQCG_HUMAN IQ motif containing G 104 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) GTCTAGATTCGTTCCTTCTAG 0.358 NA 26 819 0 0 0 0 THAP9 79725 broad.mit.edu 37 4 83827690 83827690 + Missense_Mutation SNP A A G TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr4:83827690A>G uc003hnt.2 + 3 609 c.490A>G c.(490-492)AAG>GAG p.K164E THAP9_uc003hns.1_Missense_Mutation_p.K20E|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_5'UTR NM_024672 NP_078948 Q9H5L6 THAP9_HUMAN THAP domain containing 9 164 DNA binding|metal ion binding ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 5 Hepatocellular(203;0.114) GATGATCAAGAAGAGAAAGGG 0.403 NA 49 117 0 0 0 0 CCDC110 256309 broad.mit.edu 37 4 186379447 186379447 + Missense_Mutation SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr4:186379447C>T uc003ixu.3 - 6 2370 c.2294G>A c.(2293-2295)CGG>CAG p.R765Q CCDC110_uc003ixv.3_Missense_Mutation_p.R728Q|CCDC110_uc011ckt.1_Missense_Mutation_p.R765Q NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 765 Potential. nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TTGAAGATGCCGCATCTCAAA 0.308 NA 18 46 0 0 0 0 CHD1 1105 broad.mit.edu 37 5 98237004 98237004 + Missense_Mutation SNP G G C TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr5:98237004G>C uc003knf.2 - 5 621 c.473C>G c.(472-474)TCT>TGT p.S158C NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 158 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) ACCAGACTGAGATGGAGATCC 0.348 NA 52 176 0 0 0 0 C6orf58 352999 broad.mit.edu 37 6 127911331 127911331 + Silent SNP A A G TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr6:127911331A>G uc003qbh.2 + 5 786 c.774A>G c.(772-774)AGA>AGG p.R258R NM_001010905 NP_001010905 Q6P5S2 CF058_HUMAN hypothetical protein LOC352999 precursor 258 extracellular region 0 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) CCTTGATTAGATCATATAAGT 0.408 NA 68 145 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152461285 152461285 + Nonsense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr6:152461285G>A uc010kiw.2 - 140 25860 c.25258C>T c.(25258-25260)CGA>TGA p.R8420* SYNE1_uc010kiv.2_Nonsense_Mutation_p.R2944*|SYNE1_uc003qos.3_Nonsense_Mutation_p.R2944*|SYNE1_uc003qot.3_Nonsense_Mutation_p.R8372*|SYNE1_uc003qou.3_Nonsense_Mutation_p.R8420*|SYNE1_uc003qop.3_Nonsense_Mutation_p.R605*|SYNE1_uc011eez.1_Nonsense_Mutation_p.R622*|SYNE1_uc003qoq.3_Nonsense_Mutation_p.R622*|SYNE1_uc003qor.3_Nonsense_Mutation_p.R1343* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8420 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGCTCCCATCGGTCAATCACA 0.453 NA HNSCC(10;0.0054) 26 85 0 0 0 0 DNAH11 8701 broad.mit.edu 37 7 21598482 21598482 + Missense_Mutation SNP A A T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr7:21598482A>T uc003svc.2 + 3 589 c.558A>T c.(556-558)CAA>CAT p.Q186H NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 186 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TTACTTCACAAGATATGGAAT 0.333 NA Kartagener_syndrome 4 26 0 0 0 0 FZD1 8321 broad.mit.edu 37 7 90895605 90895605 + Silent SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr7:90895605C>T uc003ula.2 + 1 1823 c.1410C>T c.(1408-1410)GGC>GGT p.G470G NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 470 Extracellular (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) AGGTGGACGGCGATGTGCTGA 0.622 NA 5 209 0 0 0 0 C9orf102 375748 broad.mit.edu 37 9 98740378 98740378 + Missense_Mutation SNP C C G TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr9:98740378C>G uc004avu.2 + 12 2491 c.1246C>G c.(1246-1248)CAG>GAG p.Q416E uc010msa.1_Missense_Mutation_p.Q106E|uc011lun.1_Missense_Mutation_p.Q106E Q5T890 RAD26_HUMAN Homo sapiens cDNA, FLJ97452. Error:Variant_position_missing_in_Q5T890_after_alignment DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) TCACTCAAACCAGAATGTAAT 0.388 NA 20 67 0 0 0 0 PDHA1 5160 broad.mit.edu 37 X 19369427 19369427 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chrX:19369427G>A uc004czg.3 + 4 465 c.320G>A c.(319-321)GGC>GAC p.G107D PDHA1_uc004czh.3_Missense_Mutation_p.G142D|PDHA1_uc011mjc.1_Missense_Mutation_p.G111D|PDHA1_uc011mjd.1_Missense_Mutation_p.G104D|PDHA1_uc010nfk.2_Missense_Mutation_p.G104D NM_000284 NP_000275 P08559 ODPA_HUMAN pyruvate dehydrogenase E1 alpha 1 precursor 107 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity ovary(1) 1 Hepatocellular(33;0.183) NADH(DB00157) CTGGAGGCCGGCATCAACCCC 0.507 NA 6 222 0 0 0 0 PCDH11X 27328 broad.mit.edu 37 X 91642836 91642836 + Missense_Mutation SNP C C G TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chrX:91642836C>G uc004efk.1 + 5 4092 c.3247C>G c.(3247-3249)CAT>GAT p.H1083D PCDH11X_uc004efl.1_Missense_Mutation_p.H1073D|PCDH11X_uc004efo.1_Missense_Mutation_p.H1046D|PCDH11X_uc010nmv.1_Intron|PCDH11X_uc004efm.1_Missense_Mutation_p.H1083D|PCDH11X_uc004efn.1_Missense_Mutation_p.H1073D NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1083 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CAGCACATCTCATGGCCTGCC 0.552 NA 38 134 0 0 0 0 WDR44 54521 broad.mit.edu 37 X 117532358 117532358 + Missense_Mutation SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chrX:117532358C>T uc004eqn.2 + 8 1624 c.1199C>T c.(1198-1200)GCG>GTG p.A400V WDR44_uc004eqo.2_Missense_Mutation_p.A400V|WDR44_uc011mtr.1_Missense_Mutation_p.A375V|WDR44_uc010nqi.2_Missense_Mutation_p.A110V NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 400 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 AGTAATGACGCGGCACAGTCA 0.358 NA 36 95 0 0 0 0 LAX1 54900 broad.mit.edu 37 1 203743036 203743038 + In_Frame_Del DEL ACA ACA - TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr1:203743036_203743038delACA uc001haa.2 + 5 834_836 c.424_426delACA c.(424-426)ACAdel p.T142del LAX1_uc010pql.1_In_Frame_Del_p.T126del|LAX1_uc001hab.2_In_Frame_Del_p.T66del NM_017773 NP_060243 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 isoform a 142 Cytoplasmic (Potential). B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2) 2 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) CCAGGAGCATACAGCCCACATCC 0.527 NA 19 73 --- --- --- --- NA NA NA NA HELLS 3070 broad.mit.edu 37 10 96348062 96348062 + Frame_Shift_Del DEL T T - TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr10:96348062delT uc001kjt.2 + 13 1508 c.1403delT c.(1402-1404)GTTfs p.V468fs HELLS_uc001kjs.2_Frame_Shift_Del_p.V452fs|HELLS_uc009xul.2_Frame_Shift_Del_p.V370fs|HELLS_uc009xum.2_Frame_Shift_Del_p.V338fs|HELLS_uc009xun.2_Frame_Shift_Del_p.V344fs|HELLS_uc009xuo.2_Frame_Shift_Del_p.V514fs|HELLS_uc001kju.2_Frame_Shift_Del_p.V107fs|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Frame_Shift_Del_p.V330fs|HELLS_uc009xur.2_RNA NM_018063 NP_060533 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 468 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity ovary(1)|kidney(1) 2 Colorectal(252;0.0429) all cancers(201;2.13e-05) GAAGTAGTCGTTTATGCTCCA 0.363 NA 35 82 --- --- --- --- NA NA NA NA ZNF337 26152 broad.mit.edu 37 20 25657231 25657232 + Frame_Shift_Del DEL TG TG - TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr20:25657231_25657232delTG uc002wva.2 - 4 1214_1215 c.692_693delCA c.(691-693)ACAfs p.T231fs uc002wuz.2_RNA|ZNF337_uc010ztg.1_Frame_Shift_Del_p.T199fs|ZNF337_uc002wvb.2_Frame_Shift_Del_p.T231fs|ZNF337_uc002wvc.2_Frame_Shift_Del_p.T231fs NM_015655 NP_056470 Q9Y3M9 ZN337_HUMAN zinc finger protein 337 231 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACTTCTCTCCTGTGTGTGTGTT 0.51 NA 7 184 --- --- --- --- NA NA NA NA