Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut SLC2A7 155184 broad.mit.edu 37 1 9064913 9064913 + Silent SNP G G T rs139989195 TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:9064913G>T uc009vmo.1 - 11 1218 c.1218C>A c.(1216-1218)ACC>ACA p.T406T NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN intestinal facilitative glucose transporter 7 406 Cytoplasmic (Potential). integral to membrane|plasma membrane sugar transmembrane transporter activity 0 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) GGAAGATCTCGGTCCTCACCA 0.657 NA 5 18 0.000602214 0.000666385 0.000602 1 0 AADACL3 126767 broad.mit.edu 37 1 12785337 12785337 + Missense_Mutation SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:12785337G>A uc009vnn.1 + 4 660 c.427G>A c.(427-429)GCA>ACA p.A143T AADACL3_uc001aug.1_Missense_Mutation_p.A73T NM_001103170 NP_001096640 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 isoform 1 143 hydrolase activity 0 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GGCAATAGCCGCAGTGGTTTG 0.567 NA 9 88 0 0 0.006214 0 0 LOC649330 649330 broad.mit.edu 37 1 12907473 12907473 + Missense_Mutation SNP G G C TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:12907473G>C uc009vno.2 - 1 765 c.670C>G c.(670-672)CAG>GAG p.Q224E HNRNPCL1_uc010obf.1_Missense_Mutation_p.Q224E NM_001146181 NP_001139653 B7ZW38 B7ZW38_HUMAN heterogeneous nuclear ribonucleoprotein C-like 224 nucleic acid binding|nucleotide binding 0 CTACTGCTCTGCTCCTCTTCT 0.463 NA 17 140 0 0 0.010504 0 0 CASP9 842 broad.mit.edu 37 1 15834374 15834374 + Silent SNP T T A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:15834374T>A uc001awn.2 - 3 542 c.447A>T c.(445-447)GCA>GCT p.A149A CASP9_uc001awm.1_Silent_p.A149A|CASP9_uc001awo.2_Intron|CASP9_uc001awp.2_5'UTR|CASP9_uc009voi.2_5'UTR|CASP9_uc010obm.1_Silent_p.A66A|CASP9_uc001awq.2_Silent_p.A66A NM_001229 NP_001220 P55211 CASP9_HUMAN caspase 9 isoform alpha preproprotein 149 activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(1)|kidney(1) 2 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) TCACCAAATCTGCATTTCCCC 0.562 NA 6 68 0 0 0.00308 0 0 EPHB2 2048 broad.mit.edu 37 1 23219500 23219500 + Missense_Mutation SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:23219500C>T uc009vqj.1 + 7 1697 c.1552C>T c.(1552-1554)CGC>TGC p.R518C EPHB2_uc001bge.2_Missense_Mutation_p.R518C|EPHB2_uc001bgf.2_Missense_Mutation_p.R518C|EPHB2_uc010odu.1_Missense_Mutation_p.R518C NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 518 Fibronectin type-III 2.|Extracellular (Potential). axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) AGGTTACGGGCGCTACAGCGG 0.577 NA Hereditary_Prostate_Cancer 13 45 0 0 0.00245 0 0 EIF3I 8668 broad.mit.edu 37 1 32694336 32694336 + Silent SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:32694336C>T uc001bur.3 + 9 1181 c.648C>T c.(646-648)GAC>GAT p.D216D EIF3I_uc009vuc.2_Silent_p.D216D|EIF3I_uc001bus.2_Silent_p.D168D NM_003757 NP_003748 Q13347 EIF3I_HUMAN eukaryotic translation initiation factor 3, 216 WD 4. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) AGCTTTTTGACTCCACAACTC 0.562 Colon(102;1138 2140 2180 17876) NA 14 321 0 0 0.004007 0 0 DOCK7 85440 broad.mit.edu 37 1 62941485 62941485 + Missense_Mutation SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:62941485G>A uc001daq.2 - 45 5855 c.5821C>T c.(5821-5823)CGT>TGT p.R1941C DOCK7_uc001dan.2_Missense_Mutation_p.R1804C|DOCK7_uc001dao.2_Missense_Mutation_p.R1802C|DOCK7_uc001dap.2_Missense_Mutation_p.R1921C|DOCK7_uc001dam.2_Missense_Mutation_p.R1123C|DOCK7_uc010oov.1_Missense_Mutation_p.R682C|DOCK7_uc001dar.1_Missense_Mutation_p.R115C NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1952 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 CCATGGGCACGGCCATCTAAA 0.383 NA 25 108 0 0 0.005443 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77510030 77510030 + Missense_Mutation SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:77510030G>A uc001dhi.2 + 3 578 c.403G>A c.(403-405)GTG>ATG p.V135M ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA NM_030965 NP_112227 Q9BVH7 SIA7E_HUMAN sialyltransferase 7E 135 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity pancreas(1)|skin(1) 2 TGGGCGTGACGTGGGCAATCG 0.617 NA 10 62 0 0 0.001855 0 0 BCL9 607 broad.mit.edu 37 1 147096156 147096156 + Missense_Mutation SNP C C A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:147096156C>A uc001epq.2 + 10 4417 c.3677C>A c.(3676-3678)CCT>CAT p.P1226H BCL9_uc010ozr.1_Missense_Mutation_p.P1140H NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1226 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) GTCATCCGACCTGGAGCCACC 0.572 NA T IGH@|IGL@ B-ALL 9 83 1.08611e-07 1.35763e-07 0.010729 1 0 RXRG 6258 broad.mit.edu 37 1 165389184 165389184 + Missense_Mutation SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:165389184C>T uc001gda.2 - 3 665 c.365G>A c.(364-366)GGA>GAA p.G122E NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 122 Modulating (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) GTTCATGTTTCCAATCCCGGG 0.493 NA 16 45 0 0 0.004007 0 0 TBX19 9095 broad.mit.edu 37 1 168260408 168260408 + Missense_Mutation SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:168260408C>T uc001gfl.2 + 2 265 c.214C>T c.(214-216)CCA>TCA p.P72S TBX19_uc001gfj.3_Missense_Mutation_p.P3S NM_005149 NP_005140 O60806 TBX19_HUMAN T-box 19 72 T-box. anatomical structure morphogenesis nucleus DNA binding 0 all_hematologic(923;0.215) ACGGATGTTTCCAGTCCTAAA 0.517 NA 30 152 0 0 0.013726 0 0 METTL13 51603 broad.mit.edu 37 1 171753362 171753362 + Silent SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:171753362C>T uc001ghz.2 + 2 983 c.636C>T c.(634-636)TTC>TTT p.F212F METTL13_uc001gia.2_Silent_p.F126F|METTL13_uc001gib.2_Intron|METTL13_uc010pml.1_Silent_p.F211F NM_015935 NP_057019 Q8N6R0 MTL13_HUMAN CGI-01 protein isoform 1 212 methyltransferase activity|protein binding kidney(1) 1 TGACCAAGTTCAGGCCAGTCC 0.612 NA 21 80 0 0 0.012319 0 0 KLHL20 27252 broad.mit.edu 37 1 173751319 173751319 + Missense_Mutation SNP A A G TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:173751319A>G uc001gjc.2 + 11 1875 c.1696A>G c.(1696-1698)ACA>GCA p.T566A KLHL20_uc010pmr.1_Missense_Mutation_p.T377A|KLHL20_uc009wwf.2_Missense_Mutation_p.T548A NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN kelch-like 20 566 Kelch 6. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity ovary(1) 1 TGATGGCACAACATACTTGAA 0.413 GBM(159;862 2695 6559 23041) NA 4 114 0 0 0.009096 0 0 RC3H1 149041 broad.mit.edu 37 1 173931109 173931109 + Silent SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:173931109G>A uc001gju.3 - 11 2043 c.1956C>T c.(1954-1956)AAC>AAT p.N652N RC3H1_uc010pms.1_Silent_p.N652N|RC3H1_uc001gjv.2_Silent_p.N652N|RC3H1_uc010pmt.1_Silent_p.N652N NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 652 Pro-rich. cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CATACTGAGAGTTTACAACAC 0.512 NA 5 81 0 0 0.000602 0 0 PPP1R15B 84919 broad.mit.edu 37 1 204379080 204379080 + Missense_Mutation SNP T T C TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:204379080T>C uc001hav.3 - 1 1865 c.1460A>G c.(1459-1461)TAT>TGT p.Y487C NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 487 regulation of translation ovary(1)|pancreas(1) 2 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) CTGGGGATTATAAGGATCTAC 0.438 NA 22 80 0 0 0.010504 0 0 KCNK2 3776 broad.mit.edu 37 1 215259895 215259895 + Silent SNP C C A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:215259895C>A uc001hkq.2 + 2 400 c.231C>A c.(229-231)GCC>GCA p.A77A KCNK2_uc001hko.2_Silent_p.A73A|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Silent_p.A62A NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 77 Helical; (Potential). outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) TCATCGGAGCCACCGTGTTCA 0.468 NA 12 69 6.40141e-05 7.2621e-05 0.010729 1 0 CAPN9 10753 broad.mit.edu 37 1 230895275 230895275 + Missense_Mutation SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:230895275G>A uc001htz.1 + 3 414 c.301G>A c.(301-303)GCC>ACC p.A101T CAPN9_uc009xfg.1_Intron|CAPN9_uc001hua.1_Missense_Mutation_p.A101T NM_006615 NP_006606 O14815 CAN9_HUMAN calpain 9 isoform 1 101 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1) 1 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) CTGGCTATTAGCCGCCATCGC 0.478 NA 7 45 0 0 0.001984 0 0 RBM34 23029 broad.mit.edu 37 1 235295187 235295187 + Missense_Mutation SNP C C A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:235295187C>A uc001hwn.2 - 11 1164 c.1134G>T c.(1132-1134)AAG>AAT p.K378N TOMM20_uc001hwl.2_5'Flank|RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA NM_015014 NP_055829 P42696 RBM34_HUMAN RNA binding motif protein 34 isoform 1 378 nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) TACTGACATTCTTCAATCGTG 0.318 NA 14 59 7.93312e-07 9.7361e-07 0.00245 1 0 NLRP3 114548 broad.mit.edu 37 1 247588207 247588207 + Missense_Mutation SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr1:247588207G>A uc001icr.2 + 5 1600 c.1462G>A c.(1462-1464)GAC>AAC p.D488N NLRP3_uc001ics.2_Missense_Mutation_p.D488N|NLRP3_uc001icu.2_Missense_Mutation_p.D488N|NLRP3_uc001icw.2_Missense_Mutation_p.D488N|NLRP3_uc001icv.2_Missense_Mutation_p.D488N|NLRP3_uc010pyw.1_Missense_Mutation_p.D486N|NLRP3_uc001ict.1_Missense_Mutation_p.D486N NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 488 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGAGGAGTCCGACCTCAGGAA 0.552 NA 5 25 0 0 0.001168 0 0 ATP5C1 509 broad.mit.edu 37 10 7842009 7842009 + Missense_Mutation SNP A A T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr10:7842009A>T uc001iju.2 + 6 670 c.592A>T c.(592-594)ACA>TCA p.T198S ATP5C1_uc009xiq.1_Missense_Mutation_p.T198S|ATP5C1_uc010qbc.1_Missense_Mutation_p.T149S|ATP5C1_uc001ijv.2_Missense_Mutation_p.T198S NM_001001973 NP_001001973 P36542 ATPG_HUMAN ATP synthase, H+ transporting, mitochondrial F1 198 oxidative phosphorylation|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 CTCCTATAAGACAGAAGAAAA 0.299 Melanoma(143;1012 1820 16249 30920 33158) NA 28 131 0 0 0.008361 0 0 ITGA8 8516 broad.mit.edu 37 10 15714661 15714661 + Missense_Mutation SNP G G T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr10:15714661G>T uc001ioc.1 - 7 764 c.764C>A c.(763-765)ACG>AAG p.T255K ITGA8_uc010qcb.1_Missense_Mutation_p.T255K NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 255 Extracellular (Potential).|FG-GAP 4. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 AGCCACTTCCGTCTGCTTTTC 0.418 NA 24 112 1.39806e-14 1.90644e-14 0.008361 1 0 C10orf68 79741 broad.mit.edu 37 10 33015700 33015700 + Missense_Mutation SNP G G T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr10:33015700G>T uc001iwn.3 + 8 1002 c.529G>T c.(529-531)GTG>TTG p.V177L C10orf68_uc001iwl.1_Missense_Mutation_p.V185L|C10orf68_uc001iwm.1_Missense_Mutation_p.V153L|C10orf68_uc010qei.1_Missense_Mutation_p.V104L|C10orf68_uc001iwo.3_5'Flank NM_024688 NP_078964 Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 177 skin(2)|ovary(1) 3 TCAAGATTCAGTGTCAAAACT 0.284 NA 6 14 0.00198382 0.00214252 0.001984 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37438705 37438705 + Missense_Mutation SNP C C A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr10:37438705C>A uc001iza.1 + 11 1504 c.1405C>A c.(1405-1407)CCT>ACT p.P469T NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 525 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CCCCATTTAGCCTGCCATTGA 0.279 NA 10 65 2.17888e-05 2.55781e-05 0.006214 1 0 P4HA1 5033 broad.mit.edu 37 10 74810876 74810876 + Missense_Mutation SNP C C A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr10:74810876C>A uc010qka.1 - 8 1169 c.835G>T c.(835-837)GCT>TCT p.A279S P4HA1_uc001jtg.2_Missense_Mutation_p.A279S|P4HA1_uc001jth.2_Missense_Mutation_p.A279S|P4HA1_uc010qkb.1_Missense_Mutation_p.A279S|P4HA1_uc001jti.2_RNA NM_001142595 NP_001136067 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha I subunit isoform 2 279 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity ovary(1) 1 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TAATCCACAGCAACCCCTTTT 0.358 Colon(147;367 2405 2662 52127) NA 34 184 4.92203e-23 6.9216e-23 0.00623 1 0 LRIT1 26103 broad.mit.edu 37 10 85993891 85993891 + Missense_Mutation SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr10:85993891G>A uc001kcz.1 - 3 855 c.833C>T c.(832-834)ACT>ATT p.T278I NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 278 Lumenal (Potential).|Ig-like C2-type. integral to endoplasmic reticulum membrane 0 AGGGACTCCAGTAGCTCCACA 0.592 NA 12 69 0 0 0.010729 0 0 CALHM1 255022 broad.mit.edu 37 10 105218098 105218098 + Silent SNP T T G TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr10:105218098T>G uc001kxe.2 - 1 551 c.411A>C c.(409-411)GCA>GCC p.A137A NM_001001412 NP_001001412 Q8IU99 CAHM1_HUMAN calcium homeostasis modulator 1 137 endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel activity|identical protein binding ovary(1) 1 CGTTGCCCAGTGCGCTCACGG 0.701 NA 9 23 0 0 0.006214 0 0 C10orf79 80217 broad.mit.edu 37 10 105890011 105890011 + Missense_Mutation SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr10:105890011C>T uc001kxw.2 - 38 5000 c.4884G>A c.(4882-4884)ATG>ATA p.M1628I C10orf79_uc009xxq.2_Missense_Mutation_p.M907I NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 1628 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) TCTGCTGTTGCATCATGTTTT 0.313 NA 11 48 0 0 0.010729 0 0 ATRNL1 26033 broad.mit.edu 37 10 117093795 117093795 + Missense_Mutation SNP G G C TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr10:117093795G>C uc001lcg.2 + 19 3427 c.3041G>C c.(3040-3042)TGC>TCC p.C1014S ATRNL1_uc010qsm.1_Intron|ATRNL1_uc010qsn.1_Intron NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1014 Laminin EGF-like 1.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CCTTTAGCTTGCCAGTGTAAT 0.328 NA 3 42 0 0 0.004672 0 0 OR52N2 390077 broad.mit.edu 37 11 5842280 5842280 + Missense_Mutation SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr11:5842280G>A uc010qzp.1 + 1 715 c.715G>A c.(715-717)GCC>ACC p.A239T TRIM5_uc001mbq.1_Intron NM_001005174 NP_001005174 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, 239 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCGTCACAAAGCCTTCAGCAC 0.423 NA 10 124 0 0 0.006214 0 0 CNGA4 1262 broad.mit.edu 37 11 6262815 6262815 + Nonsense_Mutation SNP G G T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr11:6262815G>T uc001mco.2 + 5 1179 c.1072G>T c.(1072-1074)GAG>TAG p.E358* CNGA4_uc010raa.1_Nonsense_Mutation_p.E127*|CNGA4_uc001mcn.2_Nonsense_Mutation_p.E318* NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 358 cNMP.|Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGCCTGCTGGAGGAGCTGGT 0.582 NA 10 68 0.00829132 0.00867696 0.008291 1 0 ACCSL 390110 broad.mit.edu 37 11 44080129 44080129 + Missense_Mutation SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr11:44080129C>T uc001mxw.1 + 13 1560 c.1504C>T c.(1504-1506)CTC>TTC p.L502F ACCSL_uc009ykr.2_Missense_Mutation_p.L321F NM_001031854 NP_001027025 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase 502 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(5) 5 AGAAGAACGGCTCCTCTATTG 0.522 NA 19 109 0 0 0.007413 0 0 PRDM11 56981 broad.mit.edu 37 11 45246107 45246107 + Missense_Mutation SNP G G T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr11:45246107G>T uc001myo.2 + 8 1433 c.1184G>T c.(1183-1185)GGG>GTG p.G395V NM_020229 NP_064614 Q9NQV5 PRD11_HUMAN PR domain containing 11 395 upper_aerodigestive_tract(1) 1 CAGACCCAGGGGGAGGGGGAC 0.562 NSCLC(118;1511 1736 6472 36603 43224) NA 25 110 4.72057e-08 5.95586e-08 0.003954 1 0 C11orf9 745 broad.mit.edu 37 11 61548502 61548502 + Missense_Mutation SNP C C A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr11:61548502C>A uc001nsc.1 + 20 2653 c.2557C>A c.(2557-2559)CCC>ACC p.P853T C11orf9_uc001nse.1_Missense_Mutation_p.P818T|C11orf9_uc010rll.1_Missense_Mutation_p.P244T NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 853 central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 AGGCATACAGCCCTCTTTGCT 0.617 NA 14 37 1.49906e-05 1.7752e-05 0.00245 1 0 FOLR1 2348 broad.mit.edu 37 11 71906939 71906939 + Splice_Site SNP A A C TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr11:71906939A>C uc001orz.1 + 6 632 c.494_splice c.e6-2 p.G165_splice FOLR1_uc001osa.1_Splice_Site_p.G165_splice|FOLR1_uc001osb.1_Splice_Site_p.G165_splice|FOLR1_uc001osc.1_Splice_Site_p.G165_splice|FOLR1_uc001osd.1_Splice_Site_p.G165_splice NM_016724 NP_057936 P15328 FOLR1_HUMAN folate receptor 1 precursor cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity ovary(1) 1 TCCTCTCTACAGGGTTTAACA 0.517 NA 17 73 0 0 0.007413 0 0 ME3 10873 broad.mit.edu 37 11 86267641 86267641 + Missense_Mutation SNP C C T rs150824447 byFrequency TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr11:86267641C>T uc001pbz.2 - 3 675 c.421G>A c.(421-423)GTG>ATG p.V141M ME3_uc001pca.2_Missense_Mutation_p.V141M|ME3_uc009yvk.2_Missense_Mutation_p.V141M|ME3_uc010rtr.1_RNA NM_001014811 NP_001014811 Q16798 MAON_HUMAN mitochondrial malic enzyme 3 precursor 141 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding ovary(1) 1 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) GCCAGCCCCACGGTAGGCGTG 0.592 NA 5 29 0 0 0.000602 0 0 KCNA1 3736 broad.mit.edu 37 12 5021088 5021088 + Missense_Mutation SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr12:5021088G>A uc001qnh.2 + 2 1649 c.544G>A c.(544-546)GTC>ATC p.V182I NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 182 Helical; Name=Segment S1; (Potential). synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CATCTCCATCGTCATCTTTTG 0.597 NA 10 46 0 0 0.008291 0 0 OVCH1 341350 broad.mit.edu 37 12 29624866 29624866 + Silent SNP G G T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr12:29624866G>T uc001rix.1 - 16 1725 c.1725C>A c.(1723-1725)ATC>ATA p.I575I NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 575 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) CCCCTCCTGCGATTCTTCTGG 0.502 NA 6 7 0.00198382 0.00214252 0.001984 1 0 KRT80 144501 broad.mit.edu 37 12 52567409 52567409 + Missense_Mutation SNP T T G TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr12:52567409T>G uc001rzx.2 - 5 904 c.806A>C c.(805-807)GAG>GCG p.E269A KRT80_uc001rzw.2_Missense_Mutation_p.E304A|KRT80_uc001rzy.2_Missense_Mutation_p.E269A NM_182507 NP_872313 Q6KB66 K2C80_HUMAN keratin 80 isoform a 269 Rod.|Coil 2. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.108) TGCCTCGGCCTCCTCCAGGCT 0.657 GBM(178;2309 2916 15678 35873) NA 12 51 0 0 0.013537 0 0 KCNC2 3747 broad.mit.edu 37 12 75444672 75444672 + Silent SNP A A C TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr12:75444672A>C uc001sxg.1 - 3 1657 c.1113T>G c.(1111-1113)CTT>CTG p.L371L KCNC2_uc009zry.2_Silent_p.L371L|KCNC2_uc001sxe.2_Silent_p.L371L|KCNC2_uc001sxf.2_Silent_p.L371L|KCNC2_uc010stw.1_Silent_p.L371L NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 371 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 GAGTATGTCCAAGCACCCTCA 0.438 NA 8 32 0 0 0.010729 0 0 NAV3 89795 broad.mit.edu 37 12 78513025 78513025 + Missense_Mutation SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr12:78513025G>A uc001syp.2 + 15 3222 c.3049G>A c.(3049-3051)GAT>AAT p.D1017N NAV3_uc001syo.2_Missense_Mutation_p.D1017N|NAV3_uc010sub.1_Missense_Mutation_p.D517N|NAV3_uc009zsf.2_Missense_Mutation_p.D25N NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1017 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AGGGAAAACCGATGATGCCAA 0.388 NA HNSCC(70;0.22) 27 88 0 0 0.007291 0 0 LUM 4060 broad.mit.edu 37 12 91502247 91502247 + Silent SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr12:91502247C>T uc001tbm.2 - 2 899 c.510G>A c.(508-510)CGG>CGA p.R170R LUM_uc001tbn.2_Intron NM_002345 NP_002336 P51884 LUM_HUMAN lumican precursor 170 LRR 5. collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2) 2 CCTCTTTCAGCCGATTGTGCT 0.448 NA 5 76 0 0 0.000602 0 0 SBNO1 55206 broad.mit.edu 37 12 123801796 123801796 + Missense_Mutation SNP C C G TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr12:123801796C>G uc010tap.1 - 20 2907 c.2907G>C c.(2905-2907)TGG>TGC p.W969C SBNO1_uc010tao.1_Missense_Mutation_p.W968C|SBNO1_uc010taq.1_Intron|SBNO1_uc001ues.1_5'Flank NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 969 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TATCAGCGCTCCAAGGTAATT 0.403 NA 15 58 0 0 0.00245 0 0 POTEG 404785 broad.mit.edu 37 14 19553826 19553826 + Missense_Mutation SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr14:19553826G>A uc001vuz.1 + 1 462 c.410G>A c.(409-411)CGA>CAA p.R137Q POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 137 ovary(1) 1 CACGTCCGTCGAGAAGATCTG 0.577 NA 4 105 0 0 0.001168 0 0 ACTR10 55860 broad.mit.edu 37 14 58701086 58701086 + Splice_Site SNP A A T rs35928266 TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr14:58701086A>T uc001xdf.2 + 13 1176 c.1073_splice c.e13-2 p.G358_splice C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_Splice_Site_p.G160_splice|ACTR10_uc001xdh.2_Splice_Site_p.G160_splice|ACTR10_uc010trp.1_Splice_Site|ACTR10_uc010apc.2_Splice_Site_p.G148_splice NM_018477 NP_060947 Q9NZ32 ARP10_HUMAN uncharacterized hypothalamus protein HARP11 cytoplasm central_nervous_system(1) 1 TTTGTCACACAGGGGCTATTT 0.353 NA 3 69 0 0 0.004672 0 0 SERPINA5 5104 broad.mit.edu 37 14 95056618 95056618 + Missense_Mutation SNP T T A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr14:95056618T>A uc001ydm.2 + 4 1070 c.860T>A c.(859-861)CTG>CAG p.L287Q SERPINA5_uc010ave.2_Missense_Mutation_p.L287Q|SERPINA3_uc001ydo.3_5'Flank NM_000624 NP_000615 P05154 IPSP_HUMAN serine (or cysteine) proteinase inhibitor, clade 287 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(2) 2 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) GAGAAAACGCTGAGGAAGTGG 0.552 NA 6 9 0 0 0.001984 0 0 SPPL2A 84888 broad.mit.edu 37 15 51040396 51040396 + Missense_Mutation SNP G G C TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr15:51040396G>C uc001zyv.2 - 4 544 c.364C>G c.(364-366)CCT>GCT p.P122A NM_032802 NP_116191 Q8TCT8 PSL2_HUMAN signal peptide peptidase-like 2A 122 Cytoplasmic (Potential).|PA. integral to membrane aspartic-type endopeptidase activity 0 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) CCTGAGGGAGGAAACTAAAAA 0.249 Melanoma(50;790 1209 4069 22965 33125) NA 3 9 0 0 0.004672 0 0 RASGRF1 5923 broad.mit.edu 37 15 79288097 79288097 + Missense_Mutation SNP C C A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr15:79288097C>A uc002beq.2 - 21 3435 c.3060G>T c.(3058-3060)GAG>GAT p.E1020D RASGRF1_uc002bep.2_Missense_Mutation_p.E1004D|RASGRF1_uc010blm.1_Missense_Mutation_p.E929D|RASGRF1_uc002ber.3_Missense_Mutation_p.E1004D|RASGRF1_uc010unh.1_Missense_Mutation_p.E415D|RASGRF1_uc002beo.2_Missense_Mutation_p.E236D NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 1022 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 GCGTGATCTCCTCCAGCGTGA 0.627 NA 4 77 0.00909568 0.00944551 0.009096 1 0 FAM154B 283726 broad.mit.edu 37 15 82574861 82574861 + Missense_Mutation SNP C C A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr15:82574861C>A uc002bgv.2 + 3 724 c.655C>A c.(655-657)CGT>AGT p.R219S FAM154B_uc010unr.1_Missense_Mutation_p.R204S|FAM154B_uc010uns.1_RNA NM_001008226 NP_001008227 Q658L1 F154B_HUMAN hypothetical protein LOC283726 219 skin(2) 2 CACTGAATTCCGTGAAAGTTT 0.473 NA 8 32 0.00448238 0.00472751 0.004482 1 0 SLC5A2 6524 broad.mit.edu 37 16 31500054 31500054 + Missense_Mutation SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr16:31500054G>A uc002ecf.3 + 10 1260 c.1241G>A c.(1240-1242)CGG>CAG p.R414Q SLC5A2_uc010car.2_Intron|C16orf58_uc002ecg.2_RNA NM_003041 NP_003032 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose 414 Extracellular (Potential). carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity ovary(1) 1 ACGCGCCTGCGGCCACGCGCC 0.701 NA 6 10 0 0 0.001984 0 0 Unknown 0 broad.mit.edu 37 16 90161578 90161578 + Silent SNP G G A rs13337896 by1000genomes TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr16:90161578G>A uc002fqp.2 + 3 931 c.453G>A c.(451-453)ACG>ACA p.T151T uc002fqq.2_Silent_p.T168T Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA. NA GCCAAGGGACGCTACACCGAA 0.587 NA 3 26 0 0 0.004672 0 0 TP53 7157 broad.mit.edu 37 17 7578203 7578203 + Missense_Mutation SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr17:7578203C>T uc002gim.2 - 6 840 c.646G>A c.(646-648)GTG>ATG p.V216M TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.2_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.1_Missense_Mutation_p.V177M NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 216 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> M (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> G (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.V216M(49)|p.V216del(8)|p.0?(7)|p.V216L(7)|p.V216E(4)|p.V216G(3)|p.V216A(3)|p.V216fs*6(2)|p.V216fs*31(2)|p.H214fs*5(2)|p.K164_P219del(1)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(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) GGCACCACCACACTATGTCGA 0.537 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 3 16 0 0 0.009096 0 0 MYH2 4620 broad.mit.edu 37 17 10428126 10428126 + Missense_Mutation SNP C C A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr17:10428126C>A uc010coi.2 - 34 5047 c.4919G>T c.(4918-4920)CGC>CTC p.R1640L uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1640L|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1640 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 AGCAGCCATGCGGTTGGCATG 0.512 NA 18 73 1.45105e-14 1.95892e-14 0.006122 1 0 ENPP7 339221 broad.mit.edu 37 17 77709193 77709193 + Missense_Mutation SNP A A T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr17:77709193A>T uc002jxa.2 + 3 771 c.751A>T c.(751-753)ACC>TCC p.T251S NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 251 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CGGCATGACGACCGTGGACAA 0.607 NA 34 50 0 0 0.004289 0 0 DSG2 1829 broad.mit.edu 37 18 29126289 29126289 + Silent SNP T T C TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr18:29126289T>C uc002kwu.3 + 15 3128 c.2940T>C c.(2938-2940)GCT>GCC p.A980A uc002kwv.3_Intron NM_001943 NP_001934 Q14126 DSG2_HUMAN desmoglein 2 preproprotein 980 Desmoglein repeat 4.|Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(2)|breast(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.0068) AGCCTTATGCTAATGAAGGTA 0.498 NA 18 36 0 0 0.00499 0 0 NETO1 81832 broad.mit.edu 37 18 70461611 70461611 + Missense_Mutation SNP C C G TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr18:70461611C>G uc002lkw.2 - 5 782 c.498G>C c.(496-498)TTG>TTC p.L166F NETO1_uc002lkx.1_Missense_Mutation_p.L165F|NETO1_uc002lky.1_Missense_Mutation_p.L166F NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 166 Extracellular (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GTAATGGTTTCAAAGCTCCAA 0.303 NA 16 82 0 0 0.004007 0 0 ZNF709 163051 broad.mit.edu 37 19 12575444 12575444 + Missense_Mutation SNP C C A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr19:12575444C>A uc002mtv.3 - 4 1453 c.1292G>T c.(1291-1293)TGT>TTT p.C431F ZNF709_uc002mtw.3_Missense_Mutation_p.C399F|ZNF709_uc002mtx.3_Missense_Mutation_p.C431F NM_152601 NP_689814 Q8N972 ZN709_HUMAN zinc finger protein 709 isoform a 431 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGAACTGGAACAACTGAAGGC 0.423 GBM(33;565 669 12371 29134 51667) NA 18 150 9.16793e-09 1.17873e-08 0.00499 1 0 FFAR3 2865 broad.mit.edu 37 19 35849909 35849909 + Silent SNP C C T rs148149328 TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr19:35849909C>T uc002nzd.2 + 2 192 c.117C>T c.(115-117)TTC>TTT p.F39F FFAR3_uc010xsu.1_RNA NM_005304 NP_005295 O14843 FFAR3_HUMAN free fatty acid receptor 3 39 Helical; Name=1; (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding 0 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) TGGTGGTCTTCGTGGGCAAGC 0.637 Esophageal Squamous(185;1742 2042 21963 24215 27871) NA 9 96 0 0 0.013537 0 0 RYR1 6261 broad.mit.edu 37 19 38934235 38934235 + Missense_Mutation SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr19:38934235G>A uc002oit.2 + 4 438 c.308G>A c.(307-309)GGC>GAC p.G103D RYR1_uc002oiu.2_Missense_Mutation_p.G103D NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 103 Cytoplasmic.|MIR 1. 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) CTCCTGTATGGCCATGCCATC 0.652 NA 5 31 0 0 0.000602 0 0 PSG8 440533 broad.mit.edu 37 19 43268074 43268074 + Missense_Mutation SNP A A T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr19:43268074A>T uc002ouo.2 - 2 522 c.424T>A c.(424-426)TTA>ATA p.L142I PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Missense_Mutation_p.L142I|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_Missense_Mutation_p.L17I|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Missense_Mutation_p.L142I|PSG8_uc002oum.3_Missense_Mutation_p.L142I|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.L142I NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 142 Ig-like V-type. extracellular region 0 Prostate(69;0.00899) TCACGATATAAGGTGAAGGTG 0.493 NA 6 210 0 0 0.001984 0 0 KLK12 43849 broad.mit.edu 37 19 51532662 51532662 + Missense_Mutation SNP A A G TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr19:51532662A>G uc002pvg.1 - 5 763 c.643T>C c.(643-645)TCC>CCC p.S215P KLK11_uc002pvd.1_5'Flank|KLK11_uc002pve.1_5'Flank|KLK11_uc002pvf.1_5'Flank|KLK11_uc002pvc.3_5'Flank|KLK11_uc010eom.2_5'Flank|KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Missense_Mutation_p.S105P|KLK12_uc010ycr.1_Missense_Mutation_p.S105P|KLK12_uc010ycs.1_Missense_Mutation_p.S105P|KLK12_uc002pvh.1_Missense_Mutation_p.S215P|KLK12_uc002pvi.1_Missense_Mutation_p.S215P|KLK12_uc002pvj.1_3'UTR NM_145894 NP_665901 Q9UKR0 KLK12_HUMAN kallikrein 12 isoform 2 215 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity ovary(1) 1 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) GACCCCCAGGACACCAGACCT 0.532 NA 6 58 0 0 0.001168 0 0 ZNF813 126017 broad.mit.edu 37 19 53994017 53994017 + Silent SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr19:53994017C>T uc002qbu.2 + 4 659 c.531C>T c.(529-531)TCC>TCT p.S177S ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) TTTCAACATCCCAAAGAATTT 0.393 NA 26 116 0 0 0.00333 0 0 ZIM2 23619 broad.mit.edu 37 19 57286129 57286129 + Missense_Mutation SNP C C A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr19:57286129C>A uc002qnr.2 - 11 1893 c.1511G>T c.(1510-1512)GGC>GTC p.G504V uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.G300V|ZIM2_uc010ygr.1_Missense_Mutation_p.G300V|ZIM2_uc002qnq.2_Missense_Mutation_p.G504V|ZIM2_uc010etp.2_Missense_Mutation_p.G504V|ZIM2_uc010ygs.1_Missense_Mutation_p.G504V NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 504 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) TGAGGGTCGGCCGAAACATTT 0.438 NA 8 46 0.000157383 0.000175593 0.00308 1 0 KIDINS220 57498 broad.mit.edu 37 2 8890421 8890421 + Missense_Mutation SNP A A T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr2:8890421A>T uc002qzc.2 - 24 3417 c.3235T>A c.(3235-3237)TAC>AAC p.Y1079N KIDINS220_uc010yiv.1_Missense_Mutation_p.Y845N|KIDINS220_uc002qzd.2_Missense_Mutation_p.Y1037N|KIDINS220_uc010yiw.1_Missense_Mutation_p.Y1080N|KIDINS220_uc002qzb.2_5'UTR|KIDINS220_uc002qze.2_Missense_Mutation_p.Y84N NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 1079 Cytoplasmic (Potential). activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AGCGGGGGGTACGCCAGTCCT 0.562 NA 13 43 0 0 0.00245 0 0 LTBP1 4052 broad.mit.edu 37 2 33246130 33246130 + Silent SNP C C A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr2:33246130C>A uc002ros.2 + 3 720 c.720C>A c.(718-720)TCC>TCA p.S240S NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 240 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGGCTGCTTCCTCGTGGGGCC 0.557 NA 16 149 1.5739e-10 2.0831e-10 0.004007 1 0 SOS1 6654 broad.mit.edu 37 2 39281778 39281778 + Missense_Mutation SNP T T A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr2:39281778T>A uc002rrk.3 - 5 738 c.697A>T c.(697-699)AAT>TAT p.N233Y SOS1_uc010ynr.1_RNA|SOS1_uc002rrl.2_5'Flank NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 233 DH. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.N233Y(1) ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) AATTTTGAATTGGAGACAAAG 0.299 NA Noonan_syndrome 4 52 0 0 0.009096 0 0 IL18RAP 8807 broad.mit.edu 37 2 103061650 103061650 + Missense_Mutation SNP A A G TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr2:103061650A>G uc002tbx.2 + 9 1406 c.922A>G c.(922-924)ATT>GTT p.I308V IL18RAP_uc010fiz.2_Missense_Mutation_p.I166V NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 308 Ig-like C2-type 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 CTTTCTCAGTATTAAATCCAC 0.378 NA 6 30 0 0 0.00308 0 0 RGPD4 285190 broad.mit.edu 37 2 108488193 108488193 + Missense_Mutation SNP C C A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr2:108488193C>A uc010ywk.1 + 20 3815 c.3733C>A c.(3733-3735)CCC>ACC p.P1245T RGPD4_uc002tdu.2_Missense_Mutation_p.P432T|RGPD4_uc010ywl.1_Intron NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1245 intracellular transport binding skin(2) 2 AAACACTGGGCCCACATTAGA 0.448 NA 14 291 2.31682e-05 2.6963e-05 0.003163 1 0 CKAP2L 150468 broad.mit.edu 37 2 113500284 113500284 + Missense_Mutation SNP T T A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr2:113500284T>A uc002tie.2 - 7 1900 c.1821A>T c.(1819-1821)GAA>GAT p.E607D CKAP2L_uc002tif.2_Missense_Mutation_p.E196D|CKAP2L_uc010yxp.1_Missense_Mutation_p.E442D|uc002tid.2_3'UTR NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 607 centrosome 0 TAATAGTACCTTCTGTGGTTC 0.333 NA 13 26 0 0 0.001855 0 0 FAM123C 205147 broad.mit.edu 37 2 131520541 131520541 + Missense_Mutation SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr2:131520541C>T uc002trw.2 + 2 1086 c.896C>T c.(895-897)GCC>GTC p.A299V FAM123C_uc010fmv.2_Missense_Mutation_p.A299V|FAM123C_uc010fms.1_Missense_Mutation_p.A299V|FAM123C_uc010fmt.1_Missense_Mutation_p.A299V|FAM123C_uc010fmu.1_Missense_Mutation_p.A299V NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 299 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GCCTCGCCCGCCCAGAATGAA 0.662 NA 10 43 0 0 0.006214 0 0 THSD7B 80731 broad.mit.edu 37 2 138414680 138414680 + Missense_Mutation SNP A A G TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr2:138414680A>G uc002tva.1 + 23 4238 c.4238A>G c.(4237-4239)AAT>AGT p.N1413S THSD7B_uc010zbj.1_RNA NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CTTTGGAACAATAACGAACGA 0.413 NA 8 49 0 0 0.006214 0 0 XIRP2 129446 broad.mit.edu 37 2 168103381 168103381 + Missense_Mutation SNP A A G TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr2:168103381A>G uc002udx.2 + 8 5497 c.5479A>G c.(5479-5481)ACA>GCA p.T1827A XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.T1652A|XIRP2_uc010fpq.2_Missense_Mutation_p.T1605A|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1652 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GCCTCAGAGTACATTTGGTAA 0.408 NA 5 63 0 0 0.001168 0 0 XIRP2 129446 broad.mit.edu 37 2 168104724 168104724 + Missense_Mutation SNP C C G TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr2:168104724C>G uc002udx.2 + 8 6840 c.6822C>G c.(6820-6822)ATC>ATG p.I2274M XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I2099M|XIRP2_uc010fpq.2_Missense_Mutation_p.I2052M|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2099 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TGAATCCAATCAACTTTAACC 0.418 NA 10 38 0 0 0.008291 0 0 PLCL1 5334 broad.mit.edu 37 2 198948501 198948501 + Missense_Mutation SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr2:198948501G>A uc010fsp.2 + 2 551 c.260G>A c.(259-261)TGT>TAT p.C87Y PLCL1_uc002uuv.3_Missense_Mutation_p.C8Y NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 87 Interaction with PPP1C. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) AACCAAAAATGTGGTGGAAGA 0.318 NA 4 28 0 0 0.009096 0 0 EPHA4 2043 broad.mit.edu 37 2 222307631 222307631 + Missense_Mutation SNP C C A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr2:222307631C>A uc002vmq.2 - 11 2034 c.1992G>T c.(1990-1992)AGG>AGT p.R664S EPHA4_uc002vmr.2_Missense_Mutation_p.R664S|EPHA4_uc010zlm.1_Missense_Mutation_p.R605S|EPHA4_uc010zln.1_Missense_Mutation_p.R664S NM_004438 NP_004429 P54764 EPHA4_HUMAN ephrin receptor EphA4 precursor 664 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1) 12 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GGAAGTCTCTCCTCTGTTTGT 0.498 NA 7 98 0.00307968 0.00327367 0.00308 1 0 C20orf196 149840 broad.mit.edu 37 20 5843983 5843983 + Silent SNP C C A rs138963473 TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr20:5843983C>A uc002wmf.2 + 3 579 c.492C>A c.(490-492)TCC>TCA p.S164S NM_152504 NP_689717 Q8IYI0 CT196_HUMAN hypothetical protein LOC149840 164 0 AGAGGCATTCCAGGGACACCC 0.507 NA 12 65 1.61879e-10 2.12172e-10 0.013537 1 0 FRG1B 284802 broad.mit.edu 37 20 29625892 29625892 + Missense_Mutation SNP T T C TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr20:29625892T>C uc010ztl.1 + 2 78 c.46T>C c.(46-48)TAT>CAT p.Y16H FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 GAAATCTGGCTATGGAAAATA 0.348 NA 3 73 0 0 0.00308 0 0 DEFB123 245936 broad.mit.edu 37 20 30037860 30037860 + Silent SNP T T C TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr20:30037860T>C uc002wvy.2 + 2 178 c.87T>C c.(85-87)TAT>TAC p.Y29Y NM_153324 NP_697019 Q8N688 DB123_HUMAN defensin, beta 123 precursor 29 defense response to bacterium extracellular region 0 Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GGAATCTTTATGGCAAATGCC 0.428 NA 14 92 0 0 0.004007 0 0 TOP1 7150 broad.mit.edu 37 20 39741460 39741460 + Silent SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr20:39741460G>A uc002xjl.2 + 14 1593 c.1347G>A c.(1345-1347)CGG>CGA p.R449R uc002xjn.1_Intron NM_003286 NP_003277 P11387 TOP1_HUMAN DNA topoisomerase I 449 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding p.R449W(1) breast(3)|ovary(2)|central_nervous_system(1)|kidney(1) 7 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) CTGCTCGGCGGCTGAAAAAAT 0.473 NA T NUP98 AML* 3 16 0 0 0.004672 0 0 SULF2 55959 broad.mit.edu 37 20 46307439 46307439 + Missense_Mutation SNP T T G TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr20:46307439T>G uc002xto.2 - 8 1504 c.1174A>C c.(1174-1176)ACG>CCG p.T392P SULF2_uc002xtr.2_Missense_Mutation_p.T392P|SULF2_uc002xtq.2_Missense_Mutation_p.T392P NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 392 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 GGCCGCTCCGTGTCCAGCAGC 0.602 NA 24 126 0 0 0.005443 0 0 ZNF831 128611 broad.mit.edu 37 20 57771017 57771017 + Missense_Mutation SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr20:57771017C>T uc002yan.2 + 2 3832 c.3832C>T c.(3832-3834)CGT>TGT p.R1278C NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1278 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) AAAGATGTCTCGTGGGAACAG 0.498 NA 14 104 0 0 0.00245 0 0 PRPF6 24148 broad.mit.edu 37 20 62664298 62664298 + Silent SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr20:62664298C>T uc002yho.2 + 21 2946 c.2778C>T c.(2776-2778)ATC>ATT p.I926I PRPF6_uc002yhp.2_Silent_p.I886I|NCRNA00176_uc002yhq.2_5'Flank|NCRNA00176_uc011abq.1_5'Flank NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 926 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) AGAAGAAGATCGGGGACATCC 0.632 NA 4 44 0 0 0.001168 0 0 USP25 29761 broad.mit.edu 37 21 17205774 17205774 + Missense_Mutation SNP G G C TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr21:17205774G>C uc002yjy.1 + 17 2318 c.2101G>C c.(2101-2103)GAA>CAA p.E701Q USP25_uc011aby.1_Missense_Mutation_p.E701Q|USP25_uc002yjz.1_Missense_Mutation_p.E701Q|USP25_uc010gla.1_Intron NM_013396 NP_037528 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 701 Potential. protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3)|liver(2) 5 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) AAAAGAACTAGAAGAATGGGA 0.413 NA 8 43 0 0 0.00308 0 0 CECR2 27443 broad.mit.edu 37 22 18022446 18022446 + Missense_Mutation SNP G G T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr22:18022446G>T uc010gqw.1 + 15 2674 c.2548G>T c.(2548-2550)GGG>TGG p.G850W CECR2_uc010gqv.1_Missense_Mutation_p.G709W|CECR2_uc002zml.2_Missense_Mutation_p.G709W NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 892 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) GGCTCTTCGGGGGGTGCAGGG 0.632 NA 11 41 4.68919e-08 5.95586e-08 0.008291 1 0 CNTN4 152330 broad.mit.edu 37 3 2908581 2908581 + Silent SNP G G T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr3:2908581G>T uc003bpc.2 + 7 821 c.600G>T c.(598-600)GTG>GTT p.V200V CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.V200V NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 200 Ig-like C2-type 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CCAATACCGTGACAAACCACA 0.388 NA 7 60 0.00198382 0.00214252 0.001984 1 0 RBM5 10181 broad.mit.edu 37 3 50145581 50145581 + Splice_Site SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr3:50145581G>A uc003cyg.2 + 13 1267 c.1119_splice c.e13+1 p.Q373_splice RBM5_uc011bdj.1_Splice_Site_p.Q317_splice|RBM5_uc011bdk.1_Splice_Site_p.Q201_splice NM_005778 NP_005769 P52756 RBM5_HUMAN RNA binding motif protein 5 apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ATATGCTCAGGTAGGTAGATT 0.418 NA 9 54 0 0 0.006214 0 0 RBM5 10181 broad.mit.edu 37 3 50154766 50154766 + Missense_Mutation SNP G G T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr3:50154766G>T uc003cyg.2 + 24 2424 c.2276G>T c.(2275-2277)GGC>GTC p.G759V RBM5_uc011bdj.1_Missense_Mutation_p.G703V|RBM5_uc011bdk.1_Missense_Mutation_p.G587V|RBM5_uc003cyh.2_Missense_Mutation_p.G216V|uc003cyi.1_RNA NM_005778 NP_005769 P52756 RBM5_HUMAN RNA binding motif protein 5 759 G-patch.|Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGGCGGGAAGGCTCTGGCTTG 0.547 NA 6 84 8.12818e-05 9.14421e-05 0.001984 1 0 AMBN 258 broad.mit.edu 37 4 71464085 71464085 + Silent SNP T T C TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr4:71464085T>C uc003hfl.2 + 4 223 c.148T>C c.(148-150)TTG>CTG p.L50L NM_016519 NP_057603 Q9NP70 AMBN_HUMAN ameloblastin precursor 50 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel ovary(3)|skin(1) 4 Lung(101;0.235) AATGAGACAGTTGGGAAGTCT 0.348 NA 5 60 0 0 0.001168 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156631937 156631937 + Missense_Mutation SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr4:156631937C>T uc003iov.2 + 7 1156 c.620C>T c.(619-621)CCT>CTT p.P207L GUCY1A3_uc003iou.2_Missense_Mutation_p.P207L|GUCY1A3_uc010iqc.2_Missense_Mutation_p.P207L|GUCY1A3_uc003iow.2_Missense_Mutation_p.P207L|GUCY1A3_uc010iqd.2_Missense_Mutation_p.P206L|GUCY1A3_uc003iox.2_Missense_Mutation_p.P207L|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.P207L|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.P207L NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 207 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TACTTCTTCCCTAAGAGAACC 0.478 NA 5 58 0 0 0.001168 0 0 ADCY2 108 broad.mit.edu 37 5 7520955 7520955 + Silent SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr5:7520955C>T uc003jdz.1 + 3 580 c.513C>T c.(511-513)ATC>ATT p.I171I NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 171 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CCCACACCATCGTGCTTAGCG 0.572 NA 7 87 0 0 0.001984 0 0 CDH10 1008 broad.mit.edu 37 5 24491685 24491685 + Missense_Mutation SNP C C A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr5:24491685C>A uc003jgr.1 - 11 2208 c.1876G>T c.(1876-1878)GTT>TTT p.V626F CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 626 Helical; (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) GGTTTCTTACCCAGTAGAATG 0.483 NA HNSCC(23;0.051) 17 59 1.99824e-07 2.47488e-07 0.00499 1 0 HCN1 348980 broad.mit.edu 37 5 45396782 45396782 + Missense_Mutation SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr5:45396782C>T uc003jok.2 - 4 1067 c.1042G>A c.(1042-1044)GCA>ACA p.A348T NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 348 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TTGAAGAGTGCGTATGAATAC 0.448 NA 11 73 0 0 0.001855 0 0 VCAN 1462 broad.mit.edu 37 5 82835757 82835757 + Missense_Mutation SNP G G T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr5:82835757G>T uc003kii.3 + 8 7291 c.6935G>T c.(6934-6936)GGA>GTA p.G2312V VCAN_uc003kij.3_Missense_Mutation_p.G1325V|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.G976V NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2312 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AAAGAAGTTGGACCACTCGTA 0.393 NA 11 48 9.70103e-10 1.25927e-09 0.008291 1 0 PGK2 5232 broad.mit.edu 37 6 49754110 49754110 + Missense_Mutation SNP T T G TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr6:49754110T>G uc003ozu.2 - 1 898 c.791A>C c.(790-792)AAG>ACG p.K264T NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 264 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) TTTAACGATCTTGGCTCCCTC 0.418 NA 6 110 0 0 0.001168 0 0 COL19A1 1310 broad.mit.edu 37 6 70881870 70881870 + Silent SNP A A C TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr6:70881870A>C uc003pfc.1 + 41 2700 c.2583A>C c.(2581-2583)GCA>GCC p.A861A NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 861 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 AGCCTGGTGCAATGGGGTTGC 0.303 NA 8 28 0 0 0.010729 0 0 SYNE1 23345 broad.mit.edu 37 6 152615182 152615182 + Silent SNP G G C TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr6:152615182G>C uc010kiw.2 - 94 18365 c.17763C>G c.(17761-17763)TCC>TCG p.S5921S SYNE1_uc010kiv.2_Silent_p.S445S|SYNE1_uc003qos.3_Silent_p.S445S|SYNE1_uc003qot.3_Silent_p.S5850S|SYNE1_uc003qou.3_Silent_p.S5921S|SYNE1_uc010kiy.1_Silent_p.S96S NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5921 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGAACTCCTGGGATGCGGATG 0.488 NA HNSCC(10;0.0054) 14 37 0 0 0.00245 0 0 PKD1L1 168507 broad.mit.edu 37 7 47942012 47942012 + Silent SNP T T G TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr7:47942012T>G uc003tny.1 - 13 2028 c.2028A>C c.(2026-2028)CCA>CCC p.P676P NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 676 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 TCACCAGGGGTGGCTGGCAGG 0.552 NA 5 26 0 0 0.000602 0 0 MUC17 140453 broad.mit.edu 37 7 100680433 100680433 + Silent SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr7:100680433C>T uc003uxp.1 + 3 5789 c.5736C>T c.(5734-5736)GAC>GAT p.D1912D MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1912 Extracellular (Potential).|30.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CAACTGCTGACGGTAGCAGCA 0.507 NA 10 201 0 0 0.013537 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508507 106508507 + Silent SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr7:106508507C>T uc003vdv.3 + 2 586 c.501C>T c.(499-501)AAC>AAT p.N167N PIK3CG_uc003vdu.2_Silent_p.N167N|PIK3CG_uc003vdw.2_Silent_p.N167N NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 167 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 ACGTCAGCAACGTGCACGACG 0.667 NA 4 29 0 0 0.000602 0 0 RNF148 378925 broad.mit.edu 37 7 122342159 122342159 + Nonsense_Mutation SNP T T A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr7:122342159T>A uc003vkk.1 - 1 863 c.646A>T c.(646-648)AGA>TGA p.R216* CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF133_uc003vkj.1_5'Flank|RNF148_uc010lkr.1_Intron NM_198085 NP_932351 Q8N7C7 RN148_HUMAN ring finger protein 148 precursor 216 integral to membrane zinc ion binding 0 TTGGGCACTCTAGGTGTAAGT 0.448 NA 4 76 0 0 0.000602 0 0 MGAM 8972 broad.mit.edu 37 7 141740570 141740570 + Missense_Mutation SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr7:141740570G>A uc003vwy.2 + 21 2476 c.2422G>A c.(2422-2424)GGA>AGA p.G808R NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 808 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GGAACTTCCTGGAGACAAAAT 0.488 NA 6 30 0 0 0.001168 0 0 OR9A2 135924 broad.mit.edu 37 7 142723355 142723355 + Missense_Mutation SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr7:142723355G>A uc003wcc.1 - 1 865 c.865C>T c.(865-867)CGG>TGG p.R289W NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, 289 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.059) TTGTCATTCCGAAGAGTAAAG 0.448 NA 10 40 0 0 0.006214 0 0 EXTL3 2137 broad.mit.edu 37 8 28574075 28574075 + Missense_Mutation SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr8:28574075G>A uc003xgz.1 + 3 1092 c.499G>A c.(499-501)GGC>AGC p.G167S NM_001440 NP_001431 O43909 EXTL3_HUMAN exostoses-like 3 167 Lumenal (Potential). integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding skin(2) 2 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) GGACGATGCCGGCCTCCCTCC 0.602 NA 13 47 0 0 0.013537 0 0 CSMD3 114788 broad.mit.edu 37 8 114326834 114326834 + Missense_Mutation SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr8:114326834C>T uc003ynu.2 - 2 526 c.367G>A c.(367-369)GAT>AAT p.D123N CSMD3_uc003ynt.2_Missense_Mutation_p.D83N|CSMD3_uc011lhx.1_Missense_Mutation_p.D123N|CSMD3_uc010mcx.1_Missense_Mutation_p.D123N|CSMD3_uc003ynx.3_Missense_Mutation_p.D123N NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 123 Extracellular (Potential).|CUB 1. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GGATGTCCATCATATAATGAT 0.328 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 54 0 0 0.010729 0 0 CSMD3 114788 broad.mit.edu 37 8 114326898 114326898 + Silent SNP A A G TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr8:114326898A>G uc003ynu.2 - 2 462 c.303T>C c.(301-303)AAT>AAC p.N101N CSMD3_uc003ynt.2_Silent_p.N61N|CSMD3_uc011lhx.1_Silent_p.N101N|CSMD3_uc010mcx.1_Silent_p.N101N|CSMD3_uc003ynx.3_Silent_p.N101N NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 101 Extracellular (Potential).|CUB 1. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTTGTATTCTATTTCGTTCTT 0.353 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 16 104 0 0 0.004007 0 0 FER1L6 654463 broad.mit.edu 37 8 124998366 124998366 + Missense_Mutation SNP T T C TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr8:124998366T>C uc003yqw.2 + 12 1675 c.1469T>C c.(1468-1470)ATG>ACG p.M490T uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 490 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GAAGCTACCATGATTGACCGG 0.274 NA 12 65 0 0 0.001855 0 0 TLR4 7099 broad.mit.edu 37 9 120476501 120476501 + Missense_Mutation SNP G G C TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr9:120476501G>C uc004bjz.2 + 3 2386 c.2095G>C c.(2095-2097)GGG>CGG p.G699R TLR4_uc004bka.2_Missense_Mutation_p.G659R|TLR4_uc004bkb.2_Missense_Mutation_p.G499R NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 699 Cytoplasmic (Potential).|TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 TTTAGAAGAAGGGGTGCCTCC 0.438 NA 9 44 0 0 0.006214 0 0 OR1L8 138881 broad.mit.edu 37 9 125330105 125330105 + Missense_Mutation SNP A A G TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr9:125330105A>G uc004bmp.1 - 1 652 c.652T>C c.(652-654)TCT>CCT p.S218P NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, 218 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 CGTATATAAGAGAAAGCAATG 0.433 NA 5 14 0 0 0.000602 0 0 FRMPD4 9758 broad.mit.edu 37 X 12736241 12736241 + Missense_Mutation SNP G G T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chrX:12736241G>T uc004cuz.1 + 16 3802 c.3296G>T c.(3295-3297)GGT>GTT p.G1099V FRMPD4_uc011mij.1_Missense_Mutation_p.G1091V NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1099 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 GCCACTGAAGGTGGGATGGCT 0.498 NA 18 84 2.35188e-11 3.1436e-11 0.006122 1 0 ABCB7 22 broad.mit.edu 37 X 74288884 74288884 + Silent SNP C C A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chrX:74288884C>A uc004eca.2 - 12 1642 c.1617G>T c.(1615-1617)GTG>GTT p.V539V ABCB7_uc004ebz.2_Silent_p.V540V|ABCB7_uc011mqn.1_Silent_p.V513V|ABCB7_uc010nls.2_Silent_p.V500V|ABCB7_uc010nlt.2_Silent_p.V499V NM_004299 NP_004290 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B, member 7 539 ABC transporter. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity ovary(1) 1 TTTCCAGGCTCACATCTTGTA 0.398 NA 26 111 3.65163e-15 5.0303e-15 0.00632 1 0 TIMM8A 1678 broad.mit.edu 37 X 100601582 100601582 + Missense_Mutation SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chrX:100601582C>T uc004ehd.2 - 2 504 c.199G>A c.(199-201)GTT>ATT p.V67I NM_004085 NP_004076 O60220 TIM8A_HUMAN translocase of inner mitochondrial membrane 8 67 nervous system development|protein import into mitochondrial inner membrane|transmembrane transport mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex protein binding 0 AAGCGCTCAACGCAGTTCACA 0.483 NA 31 123 0 0 0.013726 0 0 USP26 83844 broad.mit.edu 37 X 132161641 132161641 + Missense_Mutation SNP T T C TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chrX:132161641T>C uc010nrm.1 - 6 1078 c.608A>G c.(607-609)TAC>TGC p.Y203C USP26_uc011mvf.1_Missense_Mutation_p.Y203C NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 203 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) GGATTTCTTGTATTCTACAGA 0.343 NSCLC(104;342 1621 36940 47097 52632) NA 17 55 0 0 0.00499 0 0 NELL2 4753 broad.mit.edu 37 12 44917237 44917242 + In_Frame_Del DEL CTGTGC CTGTGC - TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 CTGTGC CTGTGC - - CTGTGC CTGTGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr12:44917237_44917242delCTGTGC uc001rog.2 - 17 2425_2430 c.1830_1835delGCACAG c.(1828-1836)AGGCACAGC>AGC p.RH610del NELL2_uc001rof.3_In_Frame_Del_p.RH609del|NELL2_uc001roh.2_In_Frame_Del_p.RH610del|NELL2_uc009zkd.2_In_Frame_Del_p.RH562del|NELL2_uc010skz.1_In_Frame_Del_p.RH660del|NELL2_uc010sla.1_In_Frame_Del_p.RH633del|NELL2_uc001roi.1_In_Frame_Del_p.RH610del NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 610_611 EGF-like 6; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) ATTGGCACAGCTGTGCCTCCCGGTCC 0.442 NA 13 72 --- --- --- --- NA NA NA NA NA PIGB 9488 broad.mit.edu 37 15 55631502 55631503 + Frame_Shift_Ins INS - - T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr15:55631502_55631503insT uc002act.2 + 7 1148_1149 c.832_833insT c.(832-834)ATTfs p.I278fs PIGB_uc010ugg.1_Frame_Shift_Ins_p.I83fs NM_004855 NP_004846 Q92521 PIGB_HUMAN phosphatidylinositol glycan, class B 278 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity 0 all cancers(107;0.0255) GATTGATCGTATTTTTTTTGGC 0.282 NA 2 4 --- --- --- --- NA NA NA NA NA NF1 4763 broad.mit.edu 37 17 29661894 29661894 + Frame_Shift_Del DEL C C - TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr17:29661894delC uc002hgg.2 + 40 6184 c.5851delC c.(5851-5853)CCAfs p.P1951fs NF1_uc002hgh.2_Frame_Shift_Del_p.P1930fs|NF1_uc010cso.2_Frame_Shift_Del_p.P139fs|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1951 P -> L (in a colorectal cancer sample; somatic mutation). actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.P1951L(1)|p.P1951fs*6(1) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATACATGACTCCATGGCTGTC 0.338 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 13 56 --- --- --- --- NA NA NA NA NA NFKBIB 4793 broad.mit.edu 37 19 39390759 39390759 + Frame_Shift_Del DEL G G - TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr19:39390759delG uc002ojw.2 + 1 145 c.87delG c.(85-87)GCGfs p.A29fs SIRT2_uc002oju.1_5'Flank|SIRT2_uc010egj.1_5'Flank|SIRT2_uc002ojv.1_5'Flank|SIRT2_uc002ojt.1_5'Flank|NFKBIB_uc010egk.1_Intron|NFKBIB_uc002ojx.2_Frame_Shift_Del_p.R16fs|NFKBIB_uc002ojy.2_Frame_Shift_Del_p.A29fs NM_002503 NP_002494 Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene 29 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity lung(1)|kidney(1) 2 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CGGACGCAGCGGCCCCCGGAG 0.706 Pancreas(165;1492 2005 6979 7739 34483) NA OREG0032100 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 2 4 --- --- --- --- NA NA NA NA NA TTN 7273 broad.mit.edu 37 2 179614019 179614020 + Frame_Shift_Ins INS - - T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr2:179614019_179614020insT uc002unb.2 - 46 13331_13332 c.13107_13108insA c.(13105-13110)AAATCAfs p.K4369fs TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCAGCTTTGATTTTTCACTTA 0.376 NA 34 97 --- --- --- --- NA NA NA NA NA CD93 22918 broad.mit.edu 37 20 23064979 23064981 + In_Frame_Del DEL CTT CTT - TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 CTT CTT - - CTT CTT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chr20:23064979_23064981delCTT uc002wsv.2 - 1 1997_1999 c.1849_1851delAAG c.(1849-1851)AAGdel p.K617del NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 617 Cytoplasmic (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCTTCTTCTCCTTCTTCTCCTCC 0.591 NA 30 166 --- --- --- --- NA NA NA NA NA FAM47C 442444 broad.mit.edu 37 X 37028222 37028222 + Frame_Shift_Del DEL C C - TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4 c2c22c1c-6411-423f-8e81-819f49e60803 g.chrX:37028222delC uc004ddl.1 + 1 1753 c.1739delC c.(1738-1740)TCCfs p.S580fs NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 580 ovary(3) 3 ACTGGAGTGTCCCATCTCTGC 0.657 NA 12 86 --- --- --- --- NA NA NA NA NA