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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample HTR1D 3352 broad.mit.edu 37 1 23519904 23519904 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:23519904G>A uc001bgn.2 - 1 1319 c.809C>T c.(808-810)TCC>TTC p.S270F NM_000864 NP_000855 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D 270 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) AAAGAGAGGGGAGCCAGCCGA 0.572 NaN 0 0 0 0.021022 0 34 46 CYP4A22 284541 broad.mit.edu 37 1 47603170 47603170 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:47603170G>T uc001cqv.1 + 1 64 c.13G>T c.(13-15)GTC>TTC p.V5F CYP4A22_uc009vyo.2_Missense_Mutation_p.V5F|CYP4A22_uc009vyp.2_Missense_Mutation_p.V5F NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, 5 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding skin(2)|ovary(1)|breast(1) 4 GAGTGTCTCTGTCCTGAGCCC 0.587 NaN 1 0 3.10996e-30 0.01441 4.51249e-30 43 75 ELAVL4 1996 broad.mit.edu 37 1 50610812 50610812 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:50610812C>T uc001csb.2 + 2 461 c.193C>T c.(193-195)CTC>TTC p.L65F ELAVL4_uc001cry.3_Missense_Mutation_p.L68F|ELAVL4_uc001crz.3_Missense_Mutation_p.L65F|ELAVL4_uc001csa.3_Missense_Mutation_p.L82F|ELAVL4_uc001csc.3_Missense_Mutation_p.L65F|ELAVL4_uc009vyu.2_Missense_Mutation_p.L70F|ELAVL4_uc010omz.1_Missense_Mutation_p.L70F NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 65 RRM 1. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 ATTCAGGAGTCTCTTCGGGAG 0.433 NaN 0 0 0 0.003163 0 13 78 COL11A1 1301 broad.mit.edu 37 1 103461428 103461428 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:103461428C>A uc001dul.2 - 28 2650 c.2332G>T c.(2332-2334)GGT>TGT p.G778C COL11A1_uc001duk.2_Translation_Start_Site|COL11A1_uc001dum.2_Missense_Mutation_p.G790C|COL11A1_uc001dun.2_Missense_Mutation_p.G739C|COL11A1_uc009weh.2_Missense_Mutation_p.G662C NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 778 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACCTTTTCACCTTTAGATCCC 0.269 NaN 1 0 8.52622e-23 0.01441 1.15769e-22 52 40 KCNC4 3749 broad.mit.edu 37 1 110754241 110754241 + Silent SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:110754241C>T uc001dzh.2 + 1 177 c.120C>T c.(118-120)ATC>ATT p.I40I KCNC4_uc001dzf.2_Silent_p.I40I|KCNC4_uc009wfr.2_Silent_p.I40I|KCNC4_uc001dzg.2_Silent_p.I40I|KCNC4_uc001dzi.2_RNA NM_004978 NP_004969 Q03721 KCNC4_HUMAN Shaw-related voltage-gated potassium channel 40 Cytoplasmic (Potential). synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) AGATCATCATCAACGTGGGCG 0.677 NaN 0 0 0 0.004656 0 20 35 SPAG17 200162 broad.mit.edu 37 1 118537064 118537064 + Silent SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:118537064G>T uc001ehk.2 - 35 5211 c.5143C>A c.(5143-5145)CGG>AGG p.R1715R NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1715 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GACCTTGACCGGAGATTAGGA 0.428 NaN 1 0 6.70999e-13 0.019004 7.88157e-13 27 49 OR6Y1 391112 broad.mit.edu 37 1 158517011 158517011 + Nonsense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:158517011G>T uc010pil.1 - 1 885 c.885C>A c.(883-885)TAC>TAA p.Y295* NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 295 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TCCTCAGACAGTAAATGATGG 0.458 NaN 1 0 1.81118e-26 0.01441 2.57745e-26 40 67 KIFAP3 22920 broad.mit.edu 37 1 169951164 169951164 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:169951164C>A uc001ggv.2 - 15 2018 c.1747G>T c.(1747-1749)GCA>TCA p.A583S KIFAP3_uc010plx.1_Missense_Mutation_p.A285S NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 583 ARM 4. blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCTAGCAATGCAGCACAAGAG 0.348 NaN 1 0 2.4375e-19 0.007291 3.13695e-19 23 31 LGR6 59352 broad.mit.edu 37 1 202205106 202205106 + Missense_Mutation SNP C C G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:202205106C>G uc001gxu.2 + 4 413 c.413C>G c.(412-414)CCG>CGG p.P138R LGR6_uc001gxv.2_Missense_Mutation_p.P86R|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.P95R|LGR6_uc009xac.1_5'Flank NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 138 Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 TGGGAGCTGCCGAGCCTGCAG 0.607 NaN 0 0 0 0.004672 0 3 56 CHRM3 1131 broad.mit.edu 37 1 240071577 240071577 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:240071577G>A uc001hyp.2 + 5 1605 c.826G>A c.(826-828)GAG>AAG p.E276K NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 276 Basolateral sorting signal.|Cytoplasmic (By similarity). E->D: Loss of basolateral sorting. No effect on basolateral sorting; when associated with L-280 and L-281.|E->A: Loss of basolateral sorting. cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) GACAGAGGCAGAGACAGAAAA 0.488 NaN 0 0 0 0.008871 0 17 26 ANKRD30A 91074 broad.mit.edu 37 10 37430754 37430754 + Missense_Mutation SNP T T C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr10:37430754T>C uc001iza.1 + 7 860 c.761T>C c.(760-762)GTG>GCG p.V254A NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 310 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GCACCCTTGGTGGAAAGAACA 0.502 NaN 0 0 0 0.004672 0 3 50 ANKRD30A 91074 broad.mit.edu 37 10 37430773 37430773 + Silent SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr10:37430773G>A uc001iza.1 + 7 879 c.780G>A c.(778-780)ACG>ACA p.T260T NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 316 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CACCTGACACGGCTGAAAGCT 0.493 NaN 0 0 0 0.009096 0 4 50 GPRIN2 9721 broad.mit.edu 37 10 46999113 46999113 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr10:46999113C>T uc001jec.2 + 3 368 c.233C>T c.(232-234)TCT>TTT p.S78F GPRIN2_uc010qfq.1_5'Flank NM_014696 NP_055511 O60269 GRIN2_HUMAN G protein-regulated inducer of neurite outgrowth 78 0 GCACGGGCCTCTGGCCCCAAG 0.701 NaN 0 0 0 0.008291 0 7 48 MYST4 23522 broad.mit.edu 37 10 76603021 76603021 + Missense_Mutation SNP C C G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr10:76603021C>G uc001jwn.1 + 3 899 c.406C>G c.(406-408)CAA>GAA p.Q136E MYST4_uc001jwm.1_Missense_Mutation_p.Q136E|MYST4_uc001jwo.1_Missense_Mutation_p.Q136E|MYST4_uc001jwp.1_Missense_Mutation_p.Q136E NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 136 H15. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) TCTCAGAAGTCAAAGTGATCT 0.498 NaN T CREBBP AML 0 0 0 0.00632 0 29 22 BTAF1 9044 broad.mit.edu 37 10 93751881 93751881 + Missense_Mutation SNP A A G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr10:93751881A>G uc001khr.2 + 21 2958 c.2860A>G c.(2860-2862)ACC>GCC p.T954A BTAF1_uc001kht.1_Missense_Mutation_p.T392A NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 954 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) ATTAGGATCCACCTCAGAAAA 0.358 NaN 0 0 0 0.020292 0 14 27 PNLIPRP3 119548 broad.mit.edu 37 10 118228730 118228730 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr10:118228730C>A uc001lcl.3 + 9 1062 c.961C>A c.(961-963)CCA>ACA p.P321T NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 321 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) AGAAGGTTGCCCAACAATGGG 0.358 NaN 1 0 1.22574e-08 0.014323 1.37431e-08 18 19 NLRP6 171389 broad.mit.edu 37 11 281667 281667 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr11:281667G>A uc010qvs.1 + 4 1933 c.1933G>A c.(1933-1935)GCG>ACG p.A645T NLRP6_uc010qvt.1_Missense_Mutation_p.A645T NM_138329 NP_612202 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 645 cytoplasm ATP binding upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CCCGGAGCTGGCGCTGCAGCG 0.647 NaN 0 0 0 0.01441 0 83 93 NUP98 4928 broad.mit.edu 37 11 3744407 3744407 + Missense_Mutation SNP G G C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr11:3744407G>C uc001lyh.2 - 16 2417 c.2126C>G c.(2125-2127)TCT>TGT p.S709C NUP98_uc001lyi.2_Missense_Mutation_p.S709C|NUP98_uc001lyj.1_Missense_Mutation_p.S709C|NUP98_uc001lyk.1_Missense_Mutation_p.S726C NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 726 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CATATGGTAAGAATTATTTTC 0.423 NaN T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 0 0 0 0.021022 0 32 50 SBF2 81846 broad.mit.edu 37 11 9812207 9812207 + Missense_Mutation SNP C C G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr11:9812207C>G uc001mib.2 - 34 4732 c.4594G>C c.(4594-4596)GAA>CAA p.E1532Q uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.E176Q|SBF2_uc001mic.2_5'Flank|uc001mie.3_Intron NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 1532 Myotubularin phosphatase. myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) GCATGCTTTTCTCCTTTATCA 0.308 NaN 0 0 0 0.010771 0 33 54 OR4A5 81318 broad.mit.edu 37 11 51411647 51411647 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr11:51411647G>T uc001nhi.1 - 1 749 c.749C>A c.(748-750)CCC>CAC p.P250H NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 250 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) GAAAATACAGGGTACAAAAAA 0.398 NaN 1 0 8.04996e-18 0.012319 1.02706e-17 19 31 OR4C15 81309 broad.mit.edu 37 11 55322491 55322491 + Silent SNP T T C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr11:55322491T>C uc010rig.1 + 1 709 c.709T>C c.(709-711)TTA>CTA p.L237L NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTTGTACCCGTTACTGGAGCT 0.448 NaN HNSCC(20;0.049) 0 0 0 0.020292 0 14 11 OR10Q1 219960 broad.mit.edu 37 11 57996150 57996150 + Silent SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr11:57996150G>A uc010rkd.1 - 1 198 c.198C>T c.(196-198)TTC>TTT p.F66F NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) GGTTGGACAGGAAGAAATACA 0.532 NaN 0 0 0 0.007835 0 33 67 MS4A1 931 broad.mit.edu 37 11 60229778 60229778 + Translation_Start_Site SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr11:60229778C>A uc001npp.2 + 3 347 c.-69C>A c.(-71--67)GACTG>GAATG MS4A1_uc009ymy.1_Intron|MS4A1_uc001npq.2_Intron|MS4A1_uc009yna.2_Translation_Start_Site|MS4A1_uc009ymz.2_Intron|MS4A1_uc010rlc.1_Intron NM_152866 NP_690605 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member B cell activation|immune response integral to plasma membrane ovary(3)|lung(2) 5 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) CAAGGTAAGACTGCCAAAAAT 0.408 NaN 1 0 0.004672 0.004672 0.00483536 3 11 A2M 2 broad.mit.edu 37 12 9262584 9262584 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr12:9262584C>A uc001qvk.1 - 6 665 c.552G>T c.(550-552)GAG>GAT p.E184D A2M_uc009zgk.1_Missense_Mutation_p.E34D NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 184 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) TGAGGCCACCCTCTAACTGGA 0.463 NaN 1 0 1.57945e-13 0.011902 1.90048e-13 37 54 TROAP 10024 broad.mit.edu 37 12 49724403 49724403 + Missense_Mutation SNP A A G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr12:49724403A>G uc001rtx.3 + 13 1942 c.1775A>G c.(1774-1776)TAC>TGC p.Y592C TROAP_uc009zlh.2_Missense_Mutation_p.Y592C|TROAP_uc001rty.2_Intron NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 592 Cys-rich.|4 X 33 AA approximate tandem repeats.|3. cell adhesion cytoplasm ovary(1) 1 CTAGAGTCCTACTGTAGGATT 0.617 NaN 0 0 0 0.001168 0 5 81 LHX5 64211 broad.mit.edu 37 12 113906970 113906970 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr12:113906970G>T uc001tvj.1 - 2 928 c.354C>A c.(352-354)GAC>GAA p.D118E NM_022363 NP_071758 Q9H2C1 LHX5_HUMAN LIM homeobox protein 5 118 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGCTCAGGTAGTCGTCTTTGC 0.572 NaN 1 0 3.86212e-05 0.008291 4.14198e-05 11 13 C1QTNF9 338872 broad.mit.edu 37 13 24895231 24895231 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr13:24895231G>T uc001upj.2 + 4 388 c.327G>T c.(325-327)ATG>ATT p.M109I C1QTNF9_uc001upe.2_RNA NM_178540 NP_848635 P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 109 Collagen-like 2. collagen hormone activity 0 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) CAGGGCCCATGGGAGAGAAGG 0.582 NaN 1 0 3.51602e-12 0.008871 4.0974e-12 20 19 PCDH20 64881 broad.mit.edu 37 13 61986716 61986716 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr13:61986716C>A uc001vid.3 - 2 1880 c.1516G>T c.(1516-1518)GCT>TCT p.A506S PCDH20_uc010thj.1_Missense_Mutation_p.A506S NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 479 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GCCACCACAGCTACTTCATAG 0.388 NaN 1 0 9.61239e-26 0.01441 1.35489e-25 63 78 COCH 1690 broad.mit.edu 37 14 31349663 31349663 + Nonsense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr14:31349663C>T uc001wqr.2 + 7 522 c.442C>T c.(442-444)CGA>TGA p.R148* COCH_uc001wqp.2_Nonsense_Mutation_p.R148*|COCH_uc001wqq.3_Nonsense_Mutation_p.R148*|uc001wqs.2_Intron|COCH_uc001wqt.1_Translation_Start_Site NM_004086 NP_004077 O43405 COCH_HUMAN cochlin precursor 148 sensory perception of sound proteinaceous extracellular matrix pancreas(1)|central_nervous_system(1)|skin(1) 3 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) TTCAGGTAAACGACTAAAGAA 0.413 NaN 0 0 0 0.010729 0 8 12 FAM71D 161142 broad.mit.edu 37 14 67671305 67671305 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr14:67671305G>A uc001xja.1 + 5 665 c.411G>A c.(409-411)ATG>ATA p.M137I FAM71D_uc010aqn.1_RNA NM_173526 NP_775797 Q8N9W8 FA71D_HUMAN hypothetical protein LOC161142 137 ovary(1) 1 all_hematologic(31;0.0116) all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012) CGGAGAACATGAGCCTGAAAG 0.493 NaN 0 0 0 0.001168 0 4 15 ZFYVE1 53349 broad.mit.edu 37 14 73459948 73459948 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr14:73459948G>A uc001xnm.2 - 4 1746 c.1106C>T c.(1105-1107)ACG>ATG p.T369M ZFYVE1_uc010arj.2_Missense_Mutation_p.T369M NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 isoform 1 369 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding skin(1) 1 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) AGAAAAGTCCGTGGGAGGGTT 0.562 NaN 0 0 0 0.01441 0 47 50 PTPN21 11099 broad.mit.edu 37 14 88983603 88983603 + Silent SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr14:88983603G>A uc001xwv.3 - 3 514 c.183C>T c.(181-183)GTC>GTT p.V61V PTPN21_uc010twc.1_5'UTR|PTPN21_uc010atf.1_Silent_p.V61V NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 61 FERM. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 TGAAGTAAGTGACCTGGAAAG 0.433 NaN 0 0 0 0.006122 0 14 52 DIO3 1735 broad.mit.edu 37 14 102028171 102028171 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr14:102028171C>T uc010txq.1 + 1 484 c.260C>T c.(259-261)TCG>TTG p.S87L DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank NM_001362 NP_001353 P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 87 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(303;0.185) ACCCTGGCGTCGCTCAAGGCG 0.662 NaN 0 0 0 0.001984 0 6 73 PPP1R13B 23368 broad.mit.edu 37 14 104206397 104206397 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr14:104206397C>A uc001yof.1 - 12 2639 c.2356G>T c.(2356-2358)GCC>TCC p.A786S PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Missense_Mutation_p.A653S NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 786 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) GATGACGGGGCAGGCTCAGCG 0.602 NaN 1 0 1.4709e-25 0.01441 2.05371e-25 44 83 VPS39 23339 broad.mit.edu 37 15 42454656 42454656 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr15:42454656C>T uc001zpd.2 - 23 2383 c.2232G>A c.(2230-2232)ATG>ATA p.M744I VPS39_uc001zpc.2_Missense_Mutation_p.M733I|VPS39_uc001zpb.2_Missense_Mutation_p.M79I NM_015289 NP_056104 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 744 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) GCGACAGGTACATCCGAAGCA 0.592 NaN 0 0 0 0.016723 0 12 44 DMXL2 23312 broad.mit.edu 37 15 51741202 51741202 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr15:51741202G>T uc002abf.2 - 43 9315 c.9090C>A c.(9088-9090)AAC>AAA p.N3030K DMXL2_uc002abd.2_Missense_Mutation_p.N1122K|DMXL2_uc010ufy.1_Missense_Mutation_p.N3031K|DMXL2_uc010bfa.2_Missense_Mutation_p.N2394K|DMXL2_uc002abc.2_RNA NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 3030 WD 16. cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) CAAGAATTCTGTTAGGGATGT 0.408 NaN 1 0 2.74318e-10 0.006214 3.123e-10 8 22 SLC24A1 9187 broad.mit.edu 37 15 65918083 65918083 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr15:65918083G>T uc010ujf.1 + 2 1952 c.1665G>T c.(1663-1665)TGG>TGT p.W555C SLC24A1_uc010ujd.1_Missense_Mutation_p.W555C|SLC24A1_uc010uje.1_Missense_Mutation_p.W555C|SLC24A1_uc010ujg.1_Missense_Mutation_p.W555C|SLC24A1_uc010ujh.1_Missense_Mutation_p.W555C NM_004727 NP_004718 O60721 NCKX1_HUMAN solute carrier family 24 555 Cytoplasmic (Potential). response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity 0 ACCTCACCTGGTGGCCCTTAT 0.522 NaN 1 0 1.21353e-23 0.01441 1.66299e-23 47 65 CHRNB4 1143 broad.mit.edu 37 15 78922018 78922018 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr15:78922018C>A uc002bed.1 - 5 741 c.629G>T c.(628-630)AGG>ATG p.R210M CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.R28M NM_000750 NP_000741 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 210 Extracellular (Potential). regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 GTTCACTGTCCTTCTCCCTGG 0.552 NaN 1 0 1.22047e-21 0.01441 1.62729e-21 67 100 GP2 2813 broad.mit.edu 37 16 20322574 20322574 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr16:20322574G>T uc002dgv.2 - 12 1668 c.1585C>A c.(1585-1587)CTG>ATG p.L529M GP2_uc002dgw.2_Missense_Mutation_p.L526M|GP2_uc002dgx.2_Missense_Mutation_p.L382M|GP2_uc002dgy.2_Missense_Mutation_p.L379M NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 529 anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 AGGACAGTCAGGAGGACCATA 0.522 NaN 1 0 8.30282e-39 0.01441 1.26682e-38 38 48 ZNF267 10308 broad.mit.edu 37 16 31927534 31927534 + Missense_Mutation SNP C C G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr16:31927534C>G uc002ecs.3 + 4 2173 c.1964C>G c.(1963-1965)ACT>AGT p.T655S NM_003414 NP_003405 Q14586 ZN267_HUMAN zinc finger protein 267 655 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1)|skin(1) 4 AGAAGTCATACTGGAGAGAGA 0.453 NaN 0 0 0 0.004672 0 3 86 RPGRIP1L 23322 broad.mit.edu 37 16 53730066 53730066 + Missense_Mutation SNP T T A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr16:53730066T>A uc002ehp.2 - 3 291 c.227A>T c.(226-228)AAA>ATA p.K76I RPGRIP1L_uc002eho.3_Missense_Mutation_p.K76I|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.K76I|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.K76I|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.K76I|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.K76I|RPGRIP1L_uc010cby.1_Missense_Mutation_p.K76I NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 76 Potential. negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) TCATAACCTTTTAATTTTATC 0.323 NaN 0 0 0 0.021022 0 31 47 CDYL2 124359 broad.mit.edu 37 16 80646693 80646693 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr16:80646693C>T uc002ffs.2 - 5 1153 c.1048G>A c.(1048-1050)GTG>ATG p.V350M NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 350 nucleus catalytic activity|protein binding central_nervous_system(1) 1 ATGGCCACCACGATAGGCTTC 0.562 NaN 0 0 0 0.012213 0 27 55 TP53 7157 broad.mit.edu 37 17 7576855 7576855 + Nonsense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:7576855G>A uc002gim.2 - 9 1185 c.991C>T c.(991-993)CAG>TAG p.Q331* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.Q331*|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Nonsense_Mutation_p.Q199*|TP53_uc010cng.1_Nonsense_Mutation_p.Q199*|TP53_uc002gii.1_Nonsense_Mutation_p.Q199*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q331*|TP53_uc010cni.1_Nonsense_Mutation_p.Q331*|TP53_uc002gij.2_Nonsense_Mutation_p.Q331* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 331 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2. Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q331*(14)|p.0?(7)|p.Q331P(3)|p.Q331fs*6(1)|p.?(1)|p.Q331Q(1)|p.Q331R(1)|p.Q331H(1)|p.Q331fs*14(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTTAGTACCTGAAGGGTGAAA 0.448 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.008361 0 26 44 TP53 7157 broad.mit.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:7578403C>A uc002gim.2 - 5 721 c.527G>T c.(526-528)TGC>TTC p.C176F TP53_uc002gig.1_Missense_Mutation_p.C176F|TP53_uc002gih.2_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.1_Missense_Mutation_p.C137F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 176 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGTGGGGGCAGCGCCTCAC 0.652 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 1 0 1.8453e-21 0.010771 2.43843e-21 31 32 DNAH9 1770 broad.mit.edu 37 17 11584169 11584169 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:11584169C>A uc002gne.2 + 19 3774 c.3706C>A c.(3706-3708)CAA>AAA p.Q1236K DNAH9_uc010coo.2_Missense_Mutation_p.Q530K NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1236 Stem (By similarity). 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) AGAACAGCAGCAATTCTGGGA 0.527 NaN 1 0 0.000978159 0.010729 0.00101949 10 17 TOP2A 7153 broad.mit.edu 37 17 38564286 38564286 + Missense_Mutation SNP C C G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:38564286C>G uc002huq.2 - 12 1559 c.1433G>C c.(1432-1434)AGA>ACA p.R478T TOP2A_uc002hur.1_Missense_Mutation_p.R119T NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme 478 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) ATATTTGTCTCTCCCAACCAC 0.428 NaN 0 0 0 0.014323 0 19 37 EME1 146956 broad.mit.edu 37 17 48452831 48452831 + Nonsense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:48452831G>T uc002iqs.1 + 2 335 c.262G>T c.(262-264)GAA>TAA p.E88* MRPL27_uc002iqq.2_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.1_Nonsense_Mutation_p.E88* NM_152463 NP_689676 Q96AY2 EME1_HUMAN essential meiotic endonuclease 1 homolog 1 88 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding 0 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) CAGTGAAAGTGAAGATGAAGA 0.463 NaN Direct_reversal_of_damage|Homologous_recombination 1 0 8.86878e-18 0.01441 1.12186e-17 37 53 USP32 84669 broad.mit.edu 37 17 58268030 58268030 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:58268030C>A uc002iyo.1 - 29 3822 c.3536G>T c.(3535-3537)TGT>TTT p.C1179F USP32_uc002iyn.1_Missense_Mutation_p.C849F NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 1179 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ATCAATTTTACAGCCTCTGCA 0.393 NaN 1 0 2.77807e-22 0.013114 3.73777e-22 39 55 SDK2 54549 broad.mit.edu 37 17 71390398 71390398 + Missense_Mutation SNP A A G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:71390398A>G uc010dfm.2 - 26 3658 c.3658T>C c.(3658-3660)TGG>CGG p.W1220R SDK2_uc002jjt.3_Missense_Mutation_p.W379R|SDK2_uc010dfn.2_Missense_Mutation_p.W899R NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1220 Fibronectin type-III 7.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 ACCTCGCTCCAGCGCACCAGC 0.652 NaN 0 0 0 0.012319 0 16 16 ARHGDIA 396 broad.mit.edu 37 17 79826899 79826899 + Silent SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:79826899G>A uc002kbp.2 - 5 507 c.468C>T c.(466-468)TAC>TAT p.Y156Y ARHGDIA_uc002kjk.1_Silent_p.Y31Y|ARHGDIA_uc002kbq.2_Silent_p.Y156Y|ARHGDIA_uc002kbr.2_Intron|ARHGDIA_uc002kbs.1_Intron|ARHGDIA_uc002kbt.1_Silent_p.Y156Y|ARHGDIA_uc010dig.1_RNA NM_004309 NP_004300 P52565 GDIR1_HUMAN Rho GDP dissociation inhibitor (GDI) alpha 156 anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoskeleton|cytosol GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TCAGGAACTCGTACTCCTCGG 0.652 NaN 0 0 0 0.021523 0 21 24 NPC1 4864 broad.mit.edu 37 18 21119389 21119389 + Silent SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr18:21119389G>A uc002kum.3 - 19 3115 c.2841C>T c.(2839-2841)TTC>TTT p.F947F NPC1_uc010xaz.1_Silent_p.F680F NM_000271 NP_000262 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 precursor 947 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity ovary(2) 2 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) TCACCCAGTCGAAATAATCGT 0.502 NaN 0 0 0 0.00632 0 21 31 C19orf21 126353 broad.mit.edu 37 19 758421 758421 + Missense_Mutation SNP C C T rs112598403 TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:758421C>T uc002lpo.2 + 2 1558 c.1475C>T c.(1474-1476)CCG>CTG p.P492L NM_173481 NP_775752 Q8IVT2 CS021_HUMAN hypothetical protein LOC126353 492 upper_aerodigestive_tract(1) 1 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014) 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) CGGGGATGCCCGCAAGCCAAC 0.632 NaN 0 0 0 0.013726 0 25 4 ZNF57 126295 broad.mit.edu 37 19 2917961 2917961 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:2917961C>T uc002lwr.2 + 4 1490 c.1342C>T c.(1342-1344)CAT>TAT p.H448Y ZNF57_uc010xha.1_Missense_Mutation_p.H416Y NM_173480 NP_775751 Q68EA5 ZNF57_HUMAN zinc finger protein 57 448 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) AGAGCAGCTCCATAAATGTGA 0.443 NaN 0 0 0 0.014758 0 5 43 ZNF57 126295 broad.mit.edu 37 19 2917975 2917975 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:2917975C>A uc002lwr.2 + 4 1504 c.1356C>A c.(1354-1356)CAC>CAA p.H452Q ZNF57_uc010xha.1_Missense_Mutation_p.H420Q NM_173480 NP_775751 Q68EA5 ZNF57_HUMAN zinc finger protein 57 452 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) AATGTGAACACTGTGGGAAGG 0.428 NaN 1 0 0.00024832 0.009096 0.00026251 4 43 MUC16 94025 broad.mit.edu 37 19 9085867 9085867 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:9085867G>A uc002mkp.2 - 1 6152 c.5948C>T c.(5947-5949)TCC>TTC p.S1983F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1983 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGGTTGAGTGGACTGTTCAAT 0.478 NaN 0 0 0 0.01441 0 58 34 ANGPTL6 83854 broad.mit.edu 37 19 10206748 10206748 + Silent SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:10206748G>A uc002mmx.1 - 2 610 c.492C>T c.(490-492)TTC>TTT p.F164F ANGPTL6_uc002mmy.1_Silent_p.F164F NM_031917 NP_114123 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 precursor 164 angiogenesis|cell differentiation|signal transduction extracellular space receptor binding 0 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) CCAGCTCGCGGAACTTGACGT 0.741 NaN 0 0 0 0.008871 0 11 12 ZNF563 147837 broad.mit.edu 37 19 12429722 12429722 + Missense_Mutation SNP T T C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:12429722T>C uc002mtp.2 - 4 1355 c.1117A>G c.(1117-1119)ACG>GCG p.T373A NM_145276 NP_660319 Q8TA94 ZN563_HUMAN zinc finger protein 563 373 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGAGATAACGTTTTCCCACAC 0.413 NaN 0 0 0 0.00308 0 5 167 RPL18A 6142 broad.mit.edu 37 19 17972200 17972200 + Silent SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:17972200C>A uc002nhp.1 + 2 152 c.117C>A c.(115-117)GTC>GTA p.V39V SNORA68_uc002nhq.1_5'Flank NM_000980 NP_000971 Q02543 RL18A_HUMAN ribosomal protein L18a 39 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 ATCATGTCGTCGCCAAGTCCC 0.552 NaN 1 0 2.32078e-09 0.003163 2.62196e-09 11 9 ZNF536 9745 broad.mit.edu 37 19 31040189 31040189 + Silent SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:31040189G>T uc002nsu.1 + 4 3801 c.3663G>T c.(3661-3663)CTG>CTT p.L1221L ZNF536_uc010edd.1_Silent_p.L1221L NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1221 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) TCCAGGGACTGGTCTCACCTT 0.647 NaN 1 0 4.62619e-21 0.019004 6.05908e-21 25 26 ZNF573 126231 broad.mit.edu 37 19 38262256 38262256 + Silent SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:38262256C>T uc002ohe.2 - 2 172 c.150G>A c.(148-150)AGG>AGA p.R50R ZNF573_uc010efs.2_5'UTR|ZNF573_uc002ohd.2_Silent_p.R48R|ZNF573_uc002ohf.2_5'UTR|ZNF573_uc002ohg.2_5'UTR NM_152360 NP_689573 Q86YE8 ZN573_HUMAN zinc finger protein 573 30 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) TGTATAAGTCCCTCTGATTAG 0.418 NaN 0 0 0 0.006122 0 16 24 RYR1 6261 broad.mit.edu 37 19 38966040 38966040 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:38966040G>A uc002oit.2 + 29 4373 c.4243G>A c.(4243-4245)GTG>ATG p.V1415M RYR1_uc002oiu.2_Missense_Mutation_p.V1415M NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1415 Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCACGACGTGGTGCCTGCAGA 0.607 NaN 0 0 0 0.016522 0 19 30 GRIK5 2901 broad.mit.edu 37 19 42526200 42526200 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:42526200C>A uc002osj.1 - 13 1631 c.1596G>T c.(1594-1596)AAG>AAT p.K532N GRIK5_uc002osi.1_Missense_Mutation_p.K104N|GRIK5_uc010eib.1_Missense_Mutation_p.K451N NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 532 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) AGTAGCCAGGCTTGCGGCCCT 0.652 NaN 1 0 6.31663e-08 0.003163 6.97657e-08 13 18 NOVA2 4858 broad.mit.edu 37 19 46443268 46443268 + Silent SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:46443268C>T uc002pdv.2 - 4 1380 c.1332G>A c.(1330-1332)AAG>AAA p.K444K NM_002516 NP_002507 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 444 KH 3. nucleus RNA binding 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) ACTCGCCCTTCTTGGAGATCT 0.657 NaN 0 0 0 0.01441 0 68 118 ZNF845 91664 broad.mit.edu 37 19 53855364 53855365 + Missense_Mutation DNP CA CA TG TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:53855364_53855365CA>TG uc010ydv.1 + 4 1553_1554 c.1436_1437CA>TG c.(1435-1437)ACA>ATG p.T479M ZNF845_uc010ydw.1_Missense_Mutation_p.T479M NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 479 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCAGTCAGACATCATCCCTTG 0.381 NaN 0 0 0 0.004672 0 4 94 ZNF761 388561 broad.mit.edu 37 19 53958879 53958879 + Missense_Mutation SNP A A G rs147132093 TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:53958879A>G uc010eqp.2 + 7 1576 c.1118A>G c.(1117-1119)CAT>CGT p.H373R ZNF761_uc010ydy.1_Missense_Mutation_p.H319R|ZNF761_uc002qbt.1_Missense_Mutation_p.H319R NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 373 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) ACATGCCATCATAGACTTCAT 0.428 NaN 0 0 0 0.008291 0 8 232 ZNF761 388561 broad.mit.edu 37 19 53958910 53958910 + Silent SNP A A G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:53958910A>G uc010eqp.2 + 7 1607 c.1149A>G c.(1147-1149)AAA>AAG p.K383K ZNF761_uc010ydy.1_Silent_p.K329K|ZNF761_uc002qbt.1_Silent_p.K329K NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 383 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) AACCCTACAAATGTAATGAGT 0.413 NaN 0 0 0 0.006214 0 5 227 NLRP11 204801 broad.mit.edu 37 19 56297208 56297208 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:56297208G>T uc010ygf.1 - 12 3596 c.2885C>A c.(2884-2886)ACC>AAC p.T962N NLRP11_uc002qlz.2_Missense_Mutation_p.T809N|NLRP11_uc002qmb.2_Missense_Mutation_p.T863N|NLRP11_uc002qmc.2_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 962 ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CAACTGCTGGGTTTGTGTGTT 0.433 NaN 1 0 0.00074312 0.006122 0.000780013 18 28 C2orf42 54980 broad.mit.edu 37 2 70392226 70392226 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:70392226C>T uc002sgh.2 - 8 1679 c.1351G>A c.(1351-1353)GAG>AAG p.E451K NM_017880 NP_060350 Q9NWW7 CB042_HUMAN hypothetical protein LOC54980 451 0 ACTCTCACCTCTGGGGTATCT 0.428 NaN 0 0 0 0.01441 0 44 55 C2orf42 54980 broad.mit.edu 37 2 70392294 70392294 + Missense_Mutation SNP C C G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:70392294C>G uc002sgh.2 - 8 1611 c.1283G>C c.(1282-1284)GGA>GCA p.G428A NM_017880 NP_060350 Q9NWW7 CB042_HUMAN hypothetical protein LOC54980 428 0 GGAAAAGGTTCCCAGTGGCAA 0.353 NaN 0 0 0 0.009535 0 28 30 ZNF638 27332 broad.mit.edu 37 2 71651159 71651159 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:71651159C>A uc002shx.2 + 22 4834 c.4515C>A c.(4513-4515)AGC>AGA p.S1505R ZNF638_uc010yqw.1_Missense_Mutation_p.S1084R|ZNF638_uc002shy.2_Missense_Mutation_p.S1505R|ZNF638_uc002shz.2_Missense_Mutation_p.S1505R|ZNF638_uc002sia.2_Missense_Mutation_p.S1505R|ZNF638_uc002sib.1_Intron|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Missense_Mutation_p.S602R|ZNF638_uc002sid.2_Intron NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 1505 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 GGGATGACAGCAACAATAAGG 0.433 NaN 1 0 8.28177e-16 0.007413 1.02142e-15 15 28 C2orf3 6936 broad.mit.edu 37 2 75915023 75915023 + Silent SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:75915023C>T uc002sno.2 - 11 1750 c.1620G>A c.(1618-1620)AAG>AAA p.K540K C2orf3_uc010ffs.2_Silent_p.K102K|C2orf3_uc002snn.2_Silent_p.K371K|C2orf3_uc010fft.2_Silent_p.K215K NM_003203 NP_003194 P16383 GCF_HUMAN hypothetical protein LOC6936 540 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 TACTTTCCTTCTTTGAATCTT 0.338 NaN 0 0 0 0.00499 0 15 35 CTNNA2 1496 broad.mit.edu 37 2 80101255 80101255 + Silent SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:80101255G>A uc010ysh.1 + 5 644 c.639G>A c.(637-639)CTG>CTA p.L213L CTNNA2_uc010yse.1_Silent_p.L213L|CTNNA2_uc010ysf.1_Silent_p.L213L|CTNNA2_uc010ysg.1_Silent_p.L213L NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 213 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GAGGGGCTCTGAAGAAGAATG 0.517 NaN 0 0 0 0.007291 0 26 23 MFSD9 84804 broad.mit.edu 37 2 103353184 103353184 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:103353184C>T uc002tcb.2 - 1 154 c.86G>A c.(85-87)GGA>GAA p.G29E TMEM182_uc002tcc.3_5'Flank|TMEM182_uc002tcd.3_5'Flank|MFSD9_uc010fja.2_RNA NM_032718 NP_116107 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 29 transmembrane transport integral to membrane|plasma membrane transporter activity ovary(2)|breast(2) 4 CGCCTCGGTTCCTGTCTTCTG 0.677 NaN 0 0 0 0.012319 0 22 28 TFCP2L1 29842 broad.mit.edu 37 2 122038802 122038802 + Silent SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:122038802C>A uc002tmx.2 - 2 201 c.108G>T c.(106-108)CTG>CTT p.L36L TFCP2L1_uc010flr.2_Silent_p.L36L NM_014553 NP_055368 Q9NZI6 TF2L1_HUMAN LBP-9 36 Mediate transcriptional repression. female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity pancreas(2)|ovary(1) 3 Renal(3;0.01) TCTCGGGGGACAGCTGGGGTT 0.622 NaN 1 0 6.20995e-33 0.01441 9.09973e-33 63 115 SCN1A 6323 broad.mit.edu 37 2 166848518 166848518 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:166848518C>A uc010zcz.1 - 26 5252 c.5234G>T c.(5233-5235)TGT>TTT p.C1745F NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1756 IV. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGGGTTCCCACAGTCTCCCTT 0.468 NaN 1 0 1.07363e-35 0.01441 1.60502e-35 60 105 XIRP2 129446 broad.mit.edu 37 2 168105238 168105238 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:168105238C>A uc002udx.2 + 8 7354 c.7336C>A c.(7336-7338)CTG>ATG p.L2446M XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.L2271M|XIRP2_uc010fpq.2_Missense_Mutation_p.L2224M|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2271 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CAAAGTTGAACTGGCAACCTC 0.423 NaN 1 0 9.58827e-17 0.01441 1.19249e-16 41 59 NFE2L2 4780 broad.mit.edu 37 2 178098945 178098945 + Missense_Mutation SNP G G C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:178098945G>C uc002ulh.3 - 2 655 c.100C>G c.(100-102)CGA>GGA p.R34G NFE2L2_uc002ulg.3_Missense_Mutation_p.R18G|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18G|NFE2L2_uc002uli.3_Missense_Mutation_p.R18G|NFE2L2_uc010fra.2_Missense_Mutation_p.R18G|NFE2L2_uc010frb.2_Missense_Mutation_p.R18G NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 34 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) AATACTTCTCGACTTACTCCA 0.368 NaN Mis NSCLC|HNSCC HNSCC(56;0.16) 0 0 0 0.007413 0 18 7 EEF1B2 1933 broad.mit.edu 37 2 207026135 207026135 + Missense_Mutation SNP G G C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:207026135G>C uc002vbf.1 + 4 427 c.269G>C c.(268-270)AGT>ACT p.S90T NDUFS1_uc010ziq.1_5'Flank|NDUFS1_uc002vbe.2_5'Flank|NDUFS1_uc010zir.1_5'Flank|NDUFS1_uc010zis.1_5'Flank|NDUFS1_uc010zit.1_5'Flank|NDUFS1_uc010ziu.1_5'Flank|EEF1B2_uc002vbg.1_Missense_Mutation_p.S90T|EEF1B2_uc002vbh.1_Missense_Mutation_p.S90T|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.2_5'Flank NM_001037663 NP_001032752 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 90 cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity 0 ACTACAGGAAGTGGAGCTACA 0.393 NaN 0 0 0 0.01441 0 58 80 PCNT 5116 broad.mit.edu 37 21 47769714 47769714 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr21:47769714G>A uc002zji.3 + 8 1431 c.1324G>A c.(1324-1326)GAG>AAG p.E442K PCNT_uc002zjj.2_Missense_Mutation_p.E324K|PCNT_uc010gqk.1_RNA NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 442 Glu-rich.|Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) CAAAGAGAGCGAGAAAGAAAA 0.433 NaN 0 0 0 0.007291 0 21 35 HIRA 7290 broad.mit.edu 37 22 19393309 19393309 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr22:19393309C>T uc002zpf.1 - 5 617 c.397G>A c.(397-399)GAT>AAT p.D133N HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.D133N|HIRA_uc010gro.1_Missense_Mutation_p.D89N|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 133 WD 3. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) TCCCACTCACCGCCTGAATGA 0.607 NaN 0 0 0 0.01892 0 22 37 PIWIL3 440822 broad.mit.edu 37 22 25131817 25131817 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr22:25131817C>T uc003abd.1 - 13 1909 c.1492G>A c.(1492-1494)GAA>AAA p.E498K PIWIL3_uc011ajx.1_Missense_Mutation_p.E389K|PIWIL3_uc011ajy.1_Missense_Mutation_p.E389K|PIWIL3_uc010gut.1_Missense_Mutation_p.E498K NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 498 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 AAGGGTAATTCTCTTATTTCT 0.373 NaN 0 0 0 0.01441 0 37 87 CCDC157 550631 broad.mit.edu 37 22 30772567 30772567 + Missense_Mutation SNP T T C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr22:30772567T>C uc011aku.1 + 12 2752 c.2092T>C c.(2092-2094)TCT>CCT p.S698P CCDC157_uc011akv.1_Missense_Mutation_p.S698P|uc003aho.1_5'Flank NM_001017437 NP_001017437 Q569K6 CC157_HUMAN coiled-coil domain containing 157 698 central_nervous_system(1) 1 CACATCCCCATCTCGGCAGCC 0.667 NaN 0 0 0 0.010729 0 7 281 ISX 91464 broad.mit.edu 37 22 35463109 35463109 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr22:35463109G>A uc003anj.2 + 1 980 c.29G>A c.(28-30)TGC>TAC p.C10Y ISX_uc011amg.1_5'UTR NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN intestine-specific homeobox 10 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2) 5 CCTGCTCTCTGCAGGGGTATG 0.602 NaN 0 0 0 0.00632 0 22 24 SH3BP1 23616 broad.mit.edu 37 22 38061710 38061710 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr22:38061710G>T uc003atj.1 + 17 2537 c.1650G>T c.(1648-1650)GAG>GAT p.E550D PDXP_uc003atm.1_Missense_Mutation_p.E241D Q9Y3L3 3BP1_HUMAN SubName: Full=cDNA FLJ44925 fis, clone BRAMY3014613, highly similar to Homo sapiens SH3-domain binding protein 1 (SH3BP1); Error:Variant_position_missing_in_Q9Y3L3_after_alignment signal transduction cytoplasm GTPase activator activity|SH3 domain binding central_nervous_system(1) 1 Melanoma(58;0.0574) ACCGCCTGGAGACCGACATCC 0.647 NaN 1 0 2.16659e-41 0.01441 3.34016e-41 68 150 TGFBR2 7048 broad.mit.edu 37 3 30715617 30715617 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr3:30715617G>T uc003ceo.2 + 5 1657 c.1275G>T c.(1273-1275)ATG>ATT p.M425I TGFBR2_uc003cen.2_Missense_Mutation_p.M450I NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 425 Protein kinase.|Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 CAAGATACATGGCTCCAGAAG 0.453 NaN 1 0 6.53348e-20 0.017118 8.48206e-20 26 6 C3orf67 200844 broad.mit.edu 37 3 58849547 58849547 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr3:58849547C>T uc003dkt.1 - 12 1364 c.955G>A c.(955-957)GGT>AGT p.G319S C3orf67_uc003dks.1_Missense_Mutation_p.G134S|uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.G134S|C3orf67_uc003dkw.2_Missense_Mutation_p.G214S NM_198463 NP_940865 Q6ZVT6 CC067_HUMAN hypothetical protein LOC200844 319 0 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) GAGTCATCACCCAGAAGTAGA 0.463 NaN 0 0 0 0.007835 0 39 3 TOPBP1 11073 broad.mit.edu 37 3 133341937 133341937 + Missense_Mutation SNP C C G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr3:133341937C>G uc003eps.2 - 19 3308 c.3176G>C c.(3175-3177)GGA>GCA p.G1059A TOPBP1_uc003ept.1_Missense_Mutation_p.G63A NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 1059 DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 tattttaCCTCCTTTAGAGTC 0.229 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.008291 0 8 0 HRG 3273 broad.mit.edu 37 3 186389456 186389456 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr3:186389456G>T uc003fqq.2 + 4 459 c.436G>T c.(436-438)GAT>TAT p.D146Y NM_000412 NP_000403 P04196 HRG_HUMAN histidine-rich glycoprotein precursor 146 Cystatin 2. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding ovary(1)|central_nervous_system(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) GGTCCTCATAGATTTCTTTGA 0.453 NaN 1 0 1.06801e-11 0.009535 1.23489e-11 28 26 PCYT1A 5130 broad.mit.edu 37 3 195975136 195975136 + Silent SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr3:195975136G>A uc003fwg.2 - 5 449 c.276C>T c.(274-276)CAC>CAT p.H92H PCYT1A_uc003fwh.2_Silent_p.H92H NM_005017 NP_005008 P49585 PCY1A_HUMAN choline phosphate cytidylyltransferase 1 alpha 92 Catalytic (Potential). cytosol|soluble fraction choline-phosphate cytidylyltransferase activity 0 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) GAGCTCGGGCGTGACCAGAGT 0.413 NaN 0 0 0 0.001168 0 4 107 UGT2B4 7363 broad.mit.edu 37 4 70355258 70355258 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr4:70355258C>T uc003hek.3 - 3 948 c.901G>A c.(901-903)GAA>AAA p.E301K UGT2B4_uc011cap.1_Missense_Mutation_p.E165K|UGT2B4_uc003hel.3_Missense_Mutation_p.E301K NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 301 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 ACACCATTTTCTCCAGAGCTC 0.403 NaN 0 0 0 0.01441 0 69 16 MAPK10 5602 broad.mit.edu 37 4 87022213 87022213 + Missense_Mutation SNP T T G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr4:87022213T>G uc003hpq.2 - 7 789 c.722A>C c.(721-723)AAG>ACG p.K241T MAPK10_uc010ikg.2_Missense_Mutation_p.K203T|MAPK10_uc003hpr.2_Missense_Mutation_p.K203T|MAPK10_uc003hps.2_Missense_Mutation_p.K241T|MAPK10_uc003hpt.2_Missense_Mutation_p.K241T|MAPK10_uc003hpu.2_Missense_Mutation_p.K241T|MAPK10_uc003hpv.2_Missense_Mutation_p.K96T|MAPK10_uc003hpn.2_5'Flank|MAPK10_uc003hpo.2_Missense_Mutation_p.K96T|MAPK10_uc011ccw.1_Missense_Mutation_p.K127T|MAPK10_uc003hpp.2_Missense_Mutation_p.K96T NM_138982 NP_620448 P53779 MK10_HUMAN mitogen-activated protein kinase 10 isoform 2 241 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding stomach(1)|breast(1)|central_nervous_system(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) ACCGTTCTCCTTGTAGCCCAT 0.498 NaN 0 0 0 0.01441 0 39 11 EGF 1950 broad.mit.edu 37 4 110884383 110884383 + Missense_Mutation SNP C C A rs150311153 byFrequency TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr4:110884383C>A uc003hzy.3 + 9 1819 c.1367C>A c.(1366-1368)CCA>CAA p.P456Q EGF_uc011cfu.1_Missense_Mutation_p.P414Q|EGF_uc011cfv.1_Missense_Mutation_p.P456Q NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 456 EGF-like 4.|Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) CCTCTTAGCCCAGTATCCTGG 0.448 NaN 1 0 8.84886e-50 0.01441 1.39323e-49 83 19 DCLK2 166614 broad.mit.edu 37 4 151023702 151023702 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr4:151023702G>T uc003ilm.3 + 2 594 c.494G>T c.(493-495)TGG>TTG p.W165L DCLK2_uc003iln.3_Missense_Mutation_p.W165L|DCLK2_uc003ilo.3_Missense_Mutation_p.W165L|DCLK2_uc003ilp.3_RNA NM_001040260 NP_001035350 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 isoform a 165 intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity ovary(3) 3 all_hematologic(180;0.151) AATCCAAACTGGTCTGTGAAC 0.393 NaN 1 0 2.19489e-29 0.00623 3.15382e-29 29 4 SLC6A19 340024 broad.mit.edu 37 5 1219713 1219713 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr5:1219713C>T uc003jbw.3 + 10 1528 c.1472C>T c.(1471-1473)TCC>TTC p.S491F NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 491 Helical; Name=10; (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TATGCCGGCTCCATTCCCCTG 0.592 NaN 0 0 0 0.010818 0 30 80 ADAMTS12 81792 broad.mit.edu 37 5 33614431 33614431 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr5:33614431C>A uc003jia.1 - 16 2602 c.2439G>T c.(2437-2439)CAG>CAT p.Q813H ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q728H NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 813 Spacer 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GGCCATCTTTCTGGATTGTGT 0.478 NaN HNSCC(64;0.19) 1 0 3.1745e-13 0.008361 3.7586e-13 21 72 CMYA5 202333 broad.mit.edu 37 5 79027444 79027444 + Silent SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr5:79027444G>T uc003kgc.2 + 2 2928 c.2856G>T c.(2854-2856)GTG>GTT p.V952V NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 952 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CTGCATTTGTGTCAGAATTCT 0.393 NaN 1 0 1.64293e-13 0.01892 1.96092e-13 20 2 EPB41L4A 64097 broad.mit.edu 37 5 111576460 111576460 + Nonsense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr5:111576460G>T uc003kpv.1 - 10 1117 c.843C>A c.(841-843)TGC>TGA p.C281* NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte protein band 4.1-like 4 281 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) AGAGGTGCTTGCAAGCAGTTT 0.343 NaN 1 0 1.48458e-05 0.017118 1.61557e-05 24 6 TNXB 7148 broad.mit.edu 37 6 32029938 32029938 + Silent SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr6:32029938C>A uc003nzl.2 - 20 7366 c.7164G>T c.(7162-7164)GTG>GTT p.V2388V NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2450 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 ACTCACCTGTCACCCCGATGG 0.627 NaN 1 0 3.45872e-05 0.004007 3.73642e-05 14 16 CDKN1A 1026 broad.mit.edu 37 6 36652020 36652020 + Nonsense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr6:36652020C>T uc003omm.3 + 2 264 c.142C>T c.(142-144)CGA>TGA p.R48* CDKN1A_uc011dtq.1_Nonsense_Mutation_p.R82*|CDKN1A_uc003oml.2_Nonsense_Mutation_p.R48*|CDKN1A_uc003omn.2_Nonsense_Mutation_p.R48* NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 48 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 GGCCCGTGAGCGATGGAACTT 0.662 NaN Multiple_Endocrine_Neoplasia_type_1 0 0 0 0.012213 0 29 58 AMPH 273 broad.mit.edu 37 7 38500927 38500927 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr7:38500927C>T uc003tgu.2 - 11 1042 c.973G>A c.(973-975)GAG>AAG p.E325K AMPH_uc003tgv.2_Missense_Mutation_p.E325K|AMPH_uc003tgt.2_Missense_Mutation_p.E78K NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 325 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 AAGTTGTCCTCAAAGAAACTG 0.488 NaN 0 0 0 0.01441 0 54 79 ZNF735 730291 broad.mit.edu 37 7 63680313 63680313 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr7:63680313G>A uc011kdn.1 + 4 884 c.884G>A c.(883-885)AGA>AAA p.R295K NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN zinc finger protein 735 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACTGGAGAGAGACCCTACAAA 0.448 NaN 0 0 0 0.004672 0 3 77 OR2A12 346525 broad.mit.edu 37 7 143793013 143793013 + Missense_Mutation SNP G G C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr7:143793013G>C uc011kty.1 + 1 813 c.813G>C c.(811-813)AAG>AAC p.K271N NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 271 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) AACGGAGGAAGATCCTTTCCC 0.522 NaN 0 0 0 0.001984 0 6 262 EZH2 2146 broad.mit.edu 37 7 148511213 148511213 + Silent SNP C C A rs144723981 TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr7:148511213C>A uc003wfd.1 - 15 1840 c.1674G>T c.(1672-1674)CCG>CCT p.P558P EZH2_uc011kug.1_Silent_p.P507P|EZH2_uc003wfb.1_Silent_p.P563P|EZH2_uc003wfc.1_Silent_p.P519P|EZH2_uc011kuh.1_Silent_p.P549P NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 558 Cys-rich. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) AGCGGCATCCCGGAAAGCGGT 0.473 NaN Mis DLBCL 1 0 2.43516e-34 0.01441 3.60404e-34 65 103 MYOM2 9172 broad.mit.edu 37 8 2040194 2040194 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr8:2040194C>T uc003wpx.3 + 16 1987 c.1849C>T c.(1849-1851)CGG>TGG p.R617W MYOM2_uc011kwi.1_Missense_Mutation_p.R42W NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 617 Fibronectin type-III 3. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TGCTCCGGGTCGGGTTCTTGC 0.547 NaN 0 0 0 0.01441 0 98 131 RP1 6101 broad.mit.edu 37 8 55542115 55542115 + Missense_Mutation SNP G G T rs139088785 byFrequency TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr8:55542115G>T uc003xsd.1 + 4 5821 c.5673G>T c.(5671-5673)TTG>TTT p.L1891F RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1891 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACCAACCATTGCCTGGCAGTA 0.388 NaN 1 0 3.90053e-15 0.012213 4.73179e-15 30 50 PRDM14 63978 broad.mit.edu 37 8 70970924 70970924 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr8:70970924C>T uc003xym.2 - 6 1539 c.1337G>A c.(1336-1338)CGG>CAG p.R446Q NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 446 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GATCCGAAGCCGGTCCCGCTT 0.507 NaN 0 0 0 0.015359 0 29 42 FAM91A1 157769 broad.mit.edu 37 8 124787454 124787454 + Silent SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr8:124787454C>T uc003yqv.2 + 3 286 c.225C>T c.(223-225)CTC>CTT p.L75L FAM91A1_uc011lik.1_Silent_p.L75L|FAM91A1_uc011lil.1_5'UTR NM_144963 NP_659400 Q658Y4 F91A1_HUMAN hypothetical protein LOC157769 75 ovary(1)|central_nervous_system(1) 2 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) GAGATCATCTCATGCTGTACC 0.388 NaN 0 0 0 0.005524 0 35 39 MPDZ 8777 broad.mit.edu 37 9 13121876 13121876 + Missense_Mutation SNP C C G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr9:13121876C>G uc010mia.1 - 37 5150 c.5093G>C c.(5092-5094)AGA>ACA p.R1698T MPDZ_uc003zkx.3_5'Flank|MPDZ_uc003zky.3_Missense_Mutation_p.R232T|MPDZ_uc010mib.2_Missense_Mutation_p.R403T|MPDZ_uc010mhx.2_Missense_Mutation_p.R520T|MPDZ_uc011lmm.1_Missense_Mutation_p.R557T|MPDZ_uc003zkz.3_Missense_Mutation_p.R391T|MPDZ_uc010mhy.2_Missense_Mutation_p.R1698T|MPDZ_uc010mhz.2_Missense_Mutation_p.R1665T|MPDZ_uc011lmn.1_Missense_Mutation_p.R1665T|MPDZ_uc003zlb.3_Missense_Mutation_p.R1698T NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1698 PDZ 10. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) TGGCGTCTGTCTCAGGACATT 0.473 NaN 0 0 0 0.010729 0 11 2 NTRK2 4915 broad.mit.edu 37 9 87366903 87366903 + Silent SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr9:87366903C>A uc004aoa.1 + 14 2237 c.1299C>A c.(1297-1299)GTC>GTA p.V433V NTRK2_uc004anv.1_Silent_p.V420V|NTRK2_uc004any.1_Silent_p.V433V|NTRK2_uc004anz.1_Silent_p.V433V|NTRK2_uc011lsz.1_Silent_p.V433V|NTRK2_uc011lta.1_Silent_p.V433V|NTRK2_uc004aob.1_Silent_p.V433V|NTRK2_uc011ltb.1_Silent_p.V277V|NTRK2_uc004aoc.2_5'UTR NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 433 Helical; (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 TTCTCTAGGTCTATGCTGTGG 0.368 NaN TSP Lung(25;0.17) 1 0 8.73648e-17 0.019004 1.09576e-16 29 35 PTCH1 5727 broad.mit.edu 37 9 98209683 98209683 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr9:98209683C>A uc004avk.3 - 23 4043 c.3855G>T c.(3853-3855)CAG>CAT p.Q1285H PTCH1_uc010mrn.2_Missense_Mutation_p.Q77H|PTCH1_uc010mro.2_Missense_Mutation_p.Q1134H|PTCH1_uc010mrp.2_Missense_Mutation_p.Q1134H|PTCH1_uc010mrq.2_Missense_Mutation_p.Q1134H|PTCH1_uc004avl.3_Missense_Mutation_p.Q1134H|PTCH1_uc010mrr.2_Missense_Mutation_p.Q1219H|PTCH1_uc004avm.3_Missense_Mutation_p.Q1284H NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 1285 Cytoplasmic (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CCAGGTGGGGCTGCTGTCTCG 0.677 NaN Basal_Cell_Nevus_syndrome 1 0 1.49228e-48 0.01441 2.32482e-48 76 85 OR1Q1 158131 broad.mit.edu 37 9 125377931 125377931 + Missense_Mutation SNP G G A rs112809062 TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr9:125377931G>A uc011lyy.1 + 1 915 c.915G>A c.(913-915)ATG>ATA p.M305I NM_012364 NP_036496 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, 305 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TGAAATGGATGAGCAGAATGC 0.443 NaN 0 0 0 0.021022 0 32 24 ZBTB43 23099 broad.mit.edu 37 9 129595162 129595162 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr9:129595162G>A uc004bql.2 + 3 647 c.374G>A c.(373-375)GGA>GAA p.G125E ZBTB43_uc010mxf.2_Missense_Mutation_p.G125E NM_014007 NP_054726 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTTTTAGAGGGAAACCCTACA 0.483 NaN 0 0 0 0.00499 0 15 24 GUCY2F 2986 broad.mit.edu 37 X 108708376 108708376 + Missense_Mutation SNP C C A rs149453194 byFrequency TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chrX:108708376C>A uc004eod.3 - 3 1303 c.1027G>T c.(1027-1029)GAT>TAT p.D343Y GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 343 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 CTTACTTGATCGAACTCCAGC 0.433 NaN 1 0 8.40228e-50 0.01441 1.33714e-49 61 7 AFF2 2334 broad.mit.edu 37 X 148055007 148055007 + Missense_Mutation SNP A A C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chrX:148055007A>C uc004fcp.2 + 16 3753 c.3274A>C c.(3274-3276)AAA>CAA p.K1092Q AFF2_uc004fcq.2_Missense_Mutation_p.K1082Q|AFF2_uc004fcr.2_Missense_Mutation_p.K1053Q|AFF2_uc011mxb.1_Missense_Mutation_p.K1057Q|AFF2_uc004fcs.2_Missense_Mutation_p.K1057Q|AFF2_uc011mxc.1_Missense_Mutation_p.K733Q NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 1092 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) TCAGTTCGAGAAATTTGGCAA 0.373 NaN 0 0 0 0.01441 0 76 6 MLL2 8085 broad.mit.edu 37 12 49420342 49420343 + Frame_Shift_Ins INS - - GC TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 - GC - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr12:49420342_49420343insGC uc001rta.3 - 48 15406_15407 c.15406_15407insGC c.(15406-15408)CATfs p.H5136fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5136 RING-type 4; degenerate. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CTTGATCTTATGCATTGGACAC 0.52 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) NaN NaN NaN NaN NaN 53 76 --- --- KRT84 3890 broad.mit.edu 37 12 52771821 52771822 + Frame_Shift_Ins INS - - TA TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr12:52771821_52771822insTA uc001sah.1 - 9 1847_1848 c.1799_1800insTA c.(1798-1800)TACfs p.Y600fs NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 600 Tail. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TGGGCTCTCAGTACTTGGTCCG 0.688 NaN NaN NaN NaN NaN NaN 4 7 --- --- HDC 3067 broad.mit.edu 37 15 50557790 50557791 + Frame_Shift_Del DEL CT CT - TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr15:50557790_50557791delCT uc001zxz.2 - 1 136_137 c.30_31delAG c.(28-33)AGAGGGfs p.R10fs HDC_uc010uff.1_Frame_Shift_Del_p.R10fs|HDC_uc010bet.1_Frame_Shift_Del_p.R10fs|HDC_uc010beu.1_Frame_Shift_Del_p.R10fs NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 10_11 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CGTTGCTCACCTCTCTCTCTGT 0.599 NaN NaN NaN NaN NaN NaN 8 80 --- --- ZNF598 90850 broad.mit.edu 37 16 2049881 2049883 + In_Frame_Del DEL CGT CGT - rs141374045 by1000genomes TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr16:2049881_2049883delCGT uc002cof.1 - 11 1682_1684 c.1667_1669delACG c.(1666-1671)GACGGC>GGC p.D556del ZNF598_uc002coe.1_5'UTR NM_178167 NP_835461 Q86UK7 ZN598_HUMAN zinc finger protein 598 556 intracellular zinc ion binding lung(1)|breast(1) 2 GCCGGGCCGCCGTCCTCCTCCTC 0.7 NaN NaN NaN NaN NaN NaN 2 4 --- --- GRIN2C 2905 broad.mit.edu 37 17 72839417 72839418 + Frame_Shift_Ins INS - - G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:72839417_72839418insG uc002jlt.1 - 13 3014_3015 c.2858_2859insC c.(2857-2859)CCAfs p.P953fs GRIN2C_uc010wrh.1_RNA NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 953 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) GGCTCGGCTCTGGGGGCGGGTC 0.663 NaN NaN NaN NaN NaN NaN 2 4 --- --- OGDH 4967 broad.mit.edu 37 7 44684936 44684936 + Frame_Shift_Del DEL T T - TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr7:44684936delT uc003tln.2 + 3 342 c.233delT c.(232-234)ATTfs p.I78fs OGDH_uc003tlm.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.1_5'UTR|OGDH_uc003tlo.1_5'UTR NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 78 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) TCATGGGACATTTTTTTTCGC 0.577 NaN NaN NaN NaN NaN NaN 7 246 --- --- RBM33 155435 broad.mit.edu 37 7 155531073 155531074 + Frame_Shift_Del DEL CA CA - TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr7:155531073_155531074delCA uc010lqk.1 + 11 2081_2082 c.1713_1714delCA c.(1711-1716)CCCACAfs p.P571fs RBM33_uc011kvv.1_Frame_Shift_Del_p.P380fs NM_053043 NP_444271 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 571_572 Pro-rich. nucleotide binding|RNA binding ovary(1) 1 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CGTTTCTGCCCACACACACACA 0.53 NaN NaN NaN NaN NaN NaN 7 113 --- --- PCM1 5108 broad.mit.edu 37 8 17868136 17868137 + Frame_Shift_Ins INS - - TC TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr8:17868136_17868137insTC uc003wyi.3 + 32 5601_5602 c.5179_5180insTC c.(5179-5181)GATfs p.D1727fs PCM1_uc011kyh.1_Frame_Shift_Ins_p.D1719fs|PCM1_uc003wyj.3_Frame_Shift_Ins_p.D1673fs|PCM1_uc011kyi.1_Frame_Shift_Ins_p.D526fs|PCM1_uc011kyj.1_Frame_Shift_Ins_p.D483fs|PCM1_uc003wyk.3_Frame_Shift_Ins_p.D409fs|PCM1_uc011kyk.1_Frame_Shift_Ins_p.D343fs NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 1727 Interaction with HAP1. centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) GATTCTTGAAGATCATGGCTCA 0.218 NaN T RET|JAK2 papillary thyroid|CML|MPD NaN NaN NaN NaN NaN 12 15 --- ---