Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample EIF2C1 26523 broad.mit.edu 37 1 36379798 36379798 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:36379798C>G uc001bzl.2 + 14 1969 c.1756C>G c.(1756-1758)CAA>GAA p.Q586E EIF2C1_uc001bzk.2_Missense_Mutation_p.Q511E|EIF2C1_uc009vuy.2_RNA NM_012199 NP_036331 Q9UL18 AGO1_HUMAN eukaryotic translation initiation factor 2C, 1 586 Piwi. negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome protein binding|RNA binding ovary(2)|skin(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGCCGTTTTTCAACAGCCAGT 0.517 NaN 0 0 0 0.139131 0 122 33 KIAA0467 23334 broad.mit.edu 37 1 43895747 43895747 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:43895747C>T uc001cjk.1 + 15 2139 c.1677C>T c.(1675-1677)TTC>TTT p.F559F NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 1458 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ACTACTTCTTCTATTGCCCTC 0.537 NaN 0 0 0 0.139131 0 145 52 CTH 1491 broad.mit.edu 37 1 70897873 70897873 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:70897873C>G uc001dfd.2 + 8 976 c.832C>G c.(832-834)CAG>GAG p.Q278E CTH_uc009wbl.1_RNA|CTH_uc001dfe.2_Missense_Mutation_p.Q234E|CTH_uc010oqq.1_Missense_Mutation_p.Q246E NM_001902 NP_001893 P32929 CGL_HUMAN cystathionase isoform 1 278 cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine cytoplasm|nucleus cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding lung(1) 1 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) GGCAGTTGCCCAGTTCCTGGA 0.403 NaN 0 0 0 0.139131 0 67 23 FPGT 8790 broad.mit.edu 37 1 74671227 74671227 + Nonsense_Mutation SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:74671227C>A uc001dgb.1 + 4 1533 c.1496C>A c.(1495-1497)TCA>TAA p.S499* TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Nonsense_Mutation_p.S124*|FPGT_uc010oqu.1_Nonsense_Mutation_p.S245*|FPGT_uc010oqv.1_Intron NM_003838 NP_003829 O14772 FPGT_HUMAN fucose-1-phosphate guanyltransferase 499 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 TGTTTCCTGTCATGCTTAGAT 0.378 NaN 1 0 5.2432e-18 0.139131 5.66114e-18 49 57 SLC35A3 23443 broad.mit.edu 37 1 100459152 100459152 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:100459152C>G uc001dsp.1 + 2 239 c.42C>G c.(40-42)GTC>GTG p.V14V SLC35A3_uc001dsq.1_Silent_p.V14V|SLC35A3_uc009wdy.1_Silent_p.V14V|SLC35A3_uc001dsr.1_Silent_p.V56V|SLC35A3_uc001dss.1_5'Flank NM_012243 NP_036375 Q9Y2D2 S35A3_HUMAN solute carrier family 35 member 3A 14 Helical; (Potential). UDP-N-acetylglucosamine metabolic process Golgi membrane|integral to membrane sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity 0 all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199) GAATTTTGGTCTTTCAGACTA 0.358 NaN 0 0 0 0.009096 0 4 123 MAN1A2 10905 broad.mit.edu 37 1 117944812 117944812 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:117944812G>C uc001ehd.1 + 2 1028 c.307G>C c.(307-309)GAG>CAG p.E103Q MAN1A2_uc009whg.1_Intron NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 103 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TCACAGGGAAGAGGAAGAACG 0.363 NaN 0 0 0 0.069456 0 32 26 HRNR 388697 broad.mit.edu 37 1 152188199 152188199 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:152188199G>C uc001ezt.1 - 3 5982 c.5906C>G c.(5905-5907)TCT>TGT p.S1969C NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1969 22. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCTGAGCCAGACCCATATGG 0.617 NaN 0 0 0 0.074837 0 39 859 OR6Y1 391112 broad.mit.edu 37 1 158516978 158516978 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:158516978G>A uc010pil.1 - 1 918 c.918C>T c.(916-918)CTC>CTT p.L306L NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 306 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TGGTCTTTCTGAGGGCTGCCT 0.438 NaN 0 0 0 0.099896 0 28 83 DARS2 55157 broad.mit.edu 37 1 173795914 173795914 + Missense_Mutation SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:173795914C>A uc001gjh.1 + 2 627 c.217C>A c.(217-219)CAG>AAG p.Q73K CENPL_uc009wwg.2_5'Flank|CENPL_uc001gje.3_5'Flank|CENPL_uc001gjg.3_5'Flank|CENPL_uc001gjf.3_5'Flank NM_018122 NP_060592 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 73 tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding central_nervous_system(2) 2 L-Aspartic Acid(DB00128) TGGATGGATTCAGTACCGAAG 0.423 NaN 1 0 6.27289e-28 0.139131 6.87251e-28 53 43 FAM5B 57795 broad.mit.edu 37 1 177245564 177245564 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:177245564G>A uc001glf.2 + 6 1318 c.1006G>A c.(1006-1008)GAG>AAG p.E336K FAM5B_uc010pna.1_Missense_Mutation_p.E86K|FAM5B_uc001glg.2_Missense_Mutation_p.E231K NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 336 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 GCAGTTTGAAGAGTCAGGTGA 0.388 NaN 0 0 0 0.074837 0 36 37 CRB1 23418 broad.mit.edu 37 1 197390534 197390534 + Nonsense_Mutation SNP C C T rs114342808 by1000genomes TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:197390534C>T uc001gtz.2 + 6 1711 c.1576C>T c.(1576-1578)CGA>TGA p.R526* CRB1_uc010poz.1_Nonsense_Mutation_p.R457*|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Nonsense_Mutation_p.R414*|CRB1_uc010ppb.1_Nonsense_Mutation_p.R526*|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Nonsense_Mutation_p.R7*|CRB1_uc001gub.1_Nonsense_Mutation_p.R175* NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 526 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 TCTACTTTTCCGAAGCAACAG 0.453 NaN 0 0 0 0.139131 0 55 52 KLHDC8A 55220 broad.mit.edu 37 1 205306715 205306715 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:205306715G>C uc001hcf.1 - 6 1433 c.865C>G c.(865-867)CAA>GAA p.Q289E KLHDC8A_uc010prg.1_Missense_Mutation_p.Q176E|KLHDC8A_uc001hcg.1_Missense_Mutation_p.Q289E NM_018203 NP_060673 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 289 Kelch 7. ovary(1) 1 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) ACAGTGGGTTGATTCCCTGAA 0.587 NaN 0 0 0 0.125774 0 30 94 SFMBT2 57713 broad.mit.edu 37 10 7205753 7205753 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr10:7205753G>C uc009xio.1 - 21 2755 c.2664C>G c.(2662-2664)TTC>TTG p.F888L SFMBT2_uc001ijn.1_Missense_Mutation_p.F888L|SFMBT2_uc010qay.1_Missense_Mutation_p.F723L NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 888 regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 ACTGGGCGTAGAAAGCCACTT 0.547 NaN 0 0 0 0.076483 0 23 70 GAD2 2572 broad.mit.edu 37 10 26581833 26581833 + Silent SNP T T C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr10:26581833T>C uc001isp.2 + 15 2000 c.1497T>C c.(1495-1497)CCT>CCC p.P499P GAD2_uc001isq.2_Silent_p.P499P NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 499 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) CTTTGTAGCCTCAGCACACAA 0.448 NaN 0 0 0 0.139131 0 116 281 ANUBL1 93550 broad.mit.edu 37 10 46121537 46121537 + Missense_Mutation SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr10:46121537G>T uc001jcp.3 - 7 1976 c.1734C>A c.(1732-1734)AGC>AGA p.S578R ANUBL1_uc001jcl.3_Missense_Mutation_p.S98R|ANUBL1_uc001jcm.3_Missense_Mutation_p.S578R|ANUBL1_uc009xmu.2_Missense_Mutation_p.S504R|ANUBL1_uc001jcn.3_Missense_Mutation_p.S504R|ANUBL1_uc001jco.3_Intron NM_001128324 NP_001121796 Q86XD8 ANUB1_HUMAN AN1, ubiquitin-like, homolog 578 zinc ion binding 0 ATCTATTTCTGCTTGTGCTCC 0.468 NaN 1 0 0.00909568 0.009096 0.00937894 4 146 RBP3 5949 broad.mit.edu 37 10 48382225 48382225 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr10:48382225G>C uc001jez.2 - 4 3538 c.3424C>G c.(3424-3426)CTG>GTG p.L1142V NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 1142 4 X approximate tandem repeats.|4. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) CTGCTGGTCAGAATGACCATG 0.592 NaN 0 0 0 0.043863 0 19 32 PLCE1 51196 broad.mit.edu 37 10 96064271 96064271 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr10:96064271G>A uc001kjk.2 + 25 6125 c.5491G>A c.(5491-5493)GAG>AAG p.E1831K PLCE1_uc010qnx.1_Missense_Mutation_p.E1815K|PLCE1_uc001kjm.2_Missense_Mutation_p.E1523K|PLCE1_uc001kjp.2_Missense_Mutation_p.E189K NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 1831 PI-PLC Y-box. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) TGCAATGTTTGAGGCAAATGG 0.378 NaN 0 0 0 0.139131 0 72 136 PKP3 11187 broad.mit.edu 37 11 397293 397293 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:397293C>T uc001lpc.2 + 3 868 c.792C>T c.(790-792)GGC>GGT p.G264G NM_007183 NP_009114 Q9Y446 PKP3_HUMAN plakophilin 3 264 cell adhesion desmosome|nucleus binding skin(1) 1 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCGGGGTAGGCGGGGCAGTGC 0.736 NaN 0 0 0 0.009096 0 4 2 PGAP2 27315 broad.mit.edu 37 11 3845209 3845209 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:3845209C>T uc001lys.2 + 4 571 c.445C>T c.(445-447)CGC>TGC p.R149C PGAP2_uc001lyl.2_Missense_Mutation_p.R106C|PGAP2_uc010qxw.1_Missense_Mutation_p.R206C|PGAP2_uc010qxx.1_Missense_Mutation_p.S129L|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Missense_Mutation_p.R145C|PGAP2_uc010qxz.1_Missense_Mutation_p.R145C|PGAP2_uc001lyn.3_Missense_Mutation_p.S41L|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Missense_Mutation_p.R88C|PGAP2_uc010qyb.1_Missense_Mutation_p.S91L|PGAP2_uc001lyt.2_5'UTR NM_014489 NP_055304 Q9UHJ9 PGAP2_HUMAN FGF receptor activating protein 1 isoform 1 149 GPI anchor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein transporter activity 0 CTCGGCGCCTCGCTTCTTGGT 0.642 NaN 0 0 0 0.069288 0 22 63 NLRP14 338323 broad.mit.edu 37 11 7079046 7079046 + Missense_Mutation SNP A A C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:7079046A>C uc001mfb.1 + 7 2753 c.2430A>C c.(2428-2430)TTA>TTC p.L810F NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 810 cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GTGAGGCCTTAAGACATCCAA 0.393 NaN 0 0 0 0.099896 0 25 45 WEE1 7465 broad.mit.edu 37 11 9608064 9608064 + Silent SNP T T C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:9608064T>C uc001mhs.2 + 9 1792 c.1539T>C c.(1537-1539)GCT>GCC p.A513A WEE1_uc001mht.2_Silent_p.A299A NM_003390 NP_003381 P30291 WEE1_HUMAN WEE1 tyrosine kinase isoform 1 513 Protein kinase. blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 5 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) CTGCTGGTGCTGAACCTCTTC 0.398 NaN 0 0 0 0.009096 0 3 94 QSER1 79832 broad.mit.edu 37 11 32956871 32956871 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:32956871C>G uc001mty.2 + 4 3947 c.3680C>G c.(3679-3681)TCT>TGT p.S1227C QSER1_uc001mtz.1_Missense_Mutation_p.S988C|QSER1_uc001mua.2_Missense_Mutation_p.S732C NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1227 ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) GAACATTTATCTTCATTTTCT 0.363 NaN 0 0 0 0.139131 0 77 132 OR5M8 219484 broad.mit.edu 37 11 56258184 56258184 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:56258184G>A uc001nix.1 - 1 663 c.663C>T c.(661-663)TTC>TTT p.F221F NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) AAATAGCAGGGAAAATGTAAA 0.408 NaN 0 0 0 0.0333 0 18 46 OR5M10 390167 broad.mit.edu 37 11 56344512 56344512 + Missense_Mutation SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:56344512C>A uc001niz.1 - 1 686 c.686G>T c.(685-687)CGT>CTT p.R229L NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTCAGCAGAACGGATCCTGAA 0.443 NaN 1 0 3.07281e-33 0.139131 3.41679e-33 61 49 PC 5091 broad.mit.edu 37 11 66619974 66619974 + Silent SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:66619974G>C uc001ojn.1 - 13 1810 c.1761C>G c.(1759-1761)CTC>CTG p.L587L PC_uc001ojo.1_Silent_p.L587L|PC_uc001ojp.1_Silent_p.L587L|PC_uc001ojm.1_5'Flank NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 587 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CGATCTTTTTGAGATCGTGGG 0.612 NaN 0 0 0 0.139131 0 43 109 SSH3 54961 broad.mit.edu 37 11 67075644 67075644 + Splice_Site SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:67075644G>T uc001okj.2 + 9 1064 c.886_splice c.e9-1 p.I296_splice SSH3_uc001okk.2_Splice_Site|SSH3_uc001okl.2_Splice_Site_p.I150_splice NM_017857 NP_060327 Q8TE77 SSH3_HUMAN slingshot homolog 3 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) TCTGCCTGCAGATCCGCCAGG 0.647 NaN 1 0 1.15505e-17 0.11126 1.24261e-17 37 103 RNF121 55298 broad.mit.edu 37 11 71698134 71698134 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:71698134C>T uc001ora.2 + 5 823 c.483C>T c.(481-483)CTC>CTT p.L161L RNF121_uc001ord.2_Silent_p.L80L|RNF121_uc001orb.2_Silent_p.L129L|RNF121_uc009yst.2_Silent_p.L129L NM_018320 NP_060790 Q9H920 RN121_HUMAN ring finger protein 121 161 Helical; (Potential). integral to membrane zinc ion binding 0 TGTTTACCCTCTTTGGTCTTA 0.423 NaN 0 0 0 0.139131 0 56 94 C11orf30 56946 broad.mit.edu 37 11 76257009 76257009 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:76257009G>C uc001oxl.2 + 20 3585 c.3442G>C c.(3442-3444)GAC>CAC p.D1148H C11orf30_uc001oxm.2_Missense_Mutation_p.D1050H|C11orf30_uc010rsb.1_Missense_Mutation_p.D1163H|C11orf30_uc010rsc.1_Missense_Mutation_p.D1149H|C11orf30_uc001oxn.2_Missense_Mutation_p.D1149H|C11orf30_uc010rsd.1_Missense_Mutation_p.D1057H|C11orf30_uc010rse.1_Missense_Mutation_p.D395H|C11orf30_uc001oxp.2_Intron NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 1148 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 AGCAGTGTCTGACATTTTGAA 0.438 NaN 0 0 0 0.083992 0 25 70 PRSS23 11098 broad.mit.edu 37 11 86518961 86518961 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:86518961C>T uc001pcb.2 + 2 492 c.276C>T c.(274-276)GCC>GCT p.A92A PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Silent_p.A60A NM_007173 NP_009104 O95084 PRS23_HUMAN protease, serine, 23 precursor 92 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|pancreas(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CGCTCTATGCCAATGGCAGCC 0.517 NaN 0 0 0 0.045705 0 17 34 KDM4D 55693 broad.mit.edu 37 11 94731995 94731995 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:94731995G>A uc001pfe.2 + 3 2291 c.1459G>A c.(1459-1461)GAA>AAA p.E487K NM_018039 NP_060509 Q6B0I6 KDM4D_HUMAN jumonji domain containing 2D 487 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 TTCGGGCCCAGAACCTGAGCC 0.622 NaN 0 0 0 0.062417 0 23 53 DDI1 414301 broad.mit.edu 37 11 103908030 103908030 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:103908030C>G uc001phr.2 + 1 723 c.480C>G c.(478-480)CTC>CTG p.L160L PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 160 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TGTCCCTGCTCAAGGAACGCA 0.622 NaN 0 0 0 0.0918 0 22 112 GUCY1A2 2977 broad.mit.edu 37 11 106558469 106558469 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:106558469C>G uc001pjg.1 - 8 2395 c.2005G>C c.(2005-2007)GAA>CAA p.E669Q GUCY1A2_uc010rvo.1_Missense_Mutation_p.E690Q|GUCY1A2_uc009yxn.1_Missense_Mutation_p.E700Q NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 669 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) AAACTTTCTTCTCGTTTTAAT 0.408 NaN 0 0 0 0.11126 0 41 57 ROBO4 54538 broad.mit.edu 37 11 124757704 124757704 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:124757704G>A uc001qbg.2 - 13 2121 c.1981C>T c.(1981-1983)CGG>TGG p.R661W ROBO4_uc010sas.1_Missense_Mutation_p.R516W|ROBO4_uc001qbh.2_Missense_Mutation_p.R551W|ROBO4_uc001qbi.2_Missense_Mutation_p.R219W|ROBO4_uc010sat.1_Missense_Mutation_p.R219W NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 661 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TGGCTGCCCCGGAGCAGTGGG 0.577 NaN 0 0 0 0.045705 0 29 23 C12orf60 144608 broad.mit.edu 37 12 14976569 14976569 + Missense_Mutation SNP A A G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:14976569A>G uc001rcj.3 + 2 904 c.700A>G c.(700-702)ATG>GTG p.M234V NM_175874 NP_787070 Q5U649 CL060_HUMAN hypothetical protein LOC144608 234 ovary(1)|central_nervous_system(1) 2 GACTATGGAAATGAATATTTC 0.358 NaN 0 0 0 0.0918 0 24 36 PDE3A 5139 broad.mit.edu 37 12 20523043 20523043 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:20523043G>A uc001reh.1 + 1 847 c.825G>A c.(823-825)CTG>CTA p.L275L NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 275 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GGTCCCAGCTGATTGCTGGGA 0.627 NaN 0 0 0 0.124865 0 44 39 COL2A1 1280 broad.mit.edu 37 12 48381056 48381056 + Missense_Mutation SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:48381056G>T uc001rqu.2 - 20 1443 c.1262C>A c.(1261-1263)TCT>TAT p.S421Y COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.S352Y NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 421 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) ACTCACAGCAGATCCTTTGGC 0.557 NaN 1 0 1.99824e-07 0.0333 2.08938e-07 14 49 COL2A1 1280 broad.mit.edu 37 12 48390378 48390378 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:48390378C>G uc001rqu.2 - 8 743 c.562G>C c.(562-564)GAT>CAT p.D188H COL2A1_uc001rqv.2_Missense_Mutation_p.D119H NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 188 axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GCCTTTTCATCAAATCCTCCA 0.498 NaN 0 0 0 0.139131 0 118 413 ZNF641 121274 broad.mit.edu 37 12 48739131 48739131 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:48739131G>C uc001rrn.1 - 4 610 c.445C>G c.(445-447)CTG>GTG p.L149V ZNF641_uc001rro.1_Missense_Mutation_p.L135V|ZNF641_uc010sls.1_Intron NM_152320 NP_689533 Q96N77 ZN641_HUMAN zinc finger protein 641 149 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.L149L(1) ovary(1)|pancreas(1) 2 TGCTTACTCAGAGAGACTACT 0.502 NaN 0 0 0 0.146539 0 17 85 MLL2 8085 broad.mit.edu 37 12 49416552 49416552 + Nonsense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:49416552G>A uc001rta.3 - 51 16159 c.16159C>T c.(16159-16161)CAG>TAG p.Q5387* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5387 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CGCCGGTACTGAGATGACTTG 0.562 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.139131 0 27 25 DIP2B 57609 broad.mit.edu 37 12 51065079 51065079 + Nonsense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:51065079C>T uc001rwv.2 + 5 694 c.538C>T c.(538-540)CAG>TAG p.Q180* DIP2B_uc001rwu.2_Nonsense_Mutation_p.Q180*|DIP2B_uc009zls.1_Nonsense_Mutation_p.Q62* NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 180 Ser-rich. nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 CCGTTCAATTCAGGGATCGTC 0.527 NaN 0 0 0 0.139131 0 82 71 LETMD1 25875 broad.mit.edu 37 12 51451849 51451849 + Missense_Mutation SNP T T C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:51451849T>C uc001rxm.2 + 8 1006 c.950T>C c.(949-951)ATT>ACT p.I317T LETMD1_uc001rxl.2_Missense_Mutation_p.I261T|LETMD1_uc009zlv.2_RNA|LETMD1_uc001rxs.2_Intron|LETMD1_uc009zlw.2_Missense_Mutation_p.I330T|LETMD1_uc001rxn.2_Missense_Mutation_p.I160T|LETMD1_uc001rxo.2_RNA|LETMD1_uc001rxp.2_Missense_Mutation_p.I200T|LETMD1_uc001rxq.2_Missense_Mutation_p.I193T|LETMD1_uc001rxr.2_RNA|LETMD1_uc001rxt.2_Missense_Mutation_p.I57T NM_015416 NP_056231 Q6P1Q0 LTMD1_HUMAN LETM1 domain containing 1 isoform 1 317 Mitochondrial intermembrane (Potential).|LETM1. integral to membrane|mitochondrial outer membrane protein binding central_nervous_system(2) 2 TCTACGCATATTGGTGAAGAT 0.408 NaN 0 0 0 0.049695 0 19 68 KRT78 196374 broad.mit.edu 37 12 53241751 53241751 + Missense_Mutation SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:53241751C>A uc001sbc.1 - 2 603 c.539G>T c.(538-540)CGA>CTA p.R180L NM_173352 NP_775487 Q8N1N4 K2C78_HUMAN keratin 5b 180 Coil 1B.|Rod. keratin filament protein binding|structural molecule activity ovary(2) 2 CAGAGCCCCTCGTTCTCCCTG 0.607 NaN 1 0 3.6726e-16 0.0918 3.92271e-16 24 68 GDF11 10220 broad.mit.edu 37 12 56142751 56142751 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:56142751C>T uc001shq.2 + 2 864 c.827C>T c.(826-828)CCG>CTG p.P276L GDF11_uc010spv.1_Missense_Mutation_p.P276L NM_005811 NP_005802 O95390 GDF11_HUMAN growth differentiation factor 11 precursor 276 growth|mesoderm development|skeletal system development extracellular space cytokine activity|growth factor activity kidney(1) 1 TCCCTGGGGCCGGGAGCCGAG 0.597 NaN 0 0 0 0.021553 0 5 23 B4GALNT1 2583 broad.mit.edu 37 12 58021630 58021630 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:58021630C>T uc001spg.1 - 10 1587 c.1155G>A c.(1153-1155)GCG>GCA p.A385A B4GALNT1_uc010sru.1_Silent_p.A330A NM_001478 NP_001469 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 385 Lumenal (Potential). lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity 0 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TCTCGCGCACCGCGCCCCCCA 0.711 NaN 0 0 0 0.009096 0 3 6 IL26 55801 broad.mit.edu 37 12 68595841 68595841 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:68595841C>G uc001stx.1 - 4 421 c.386G>C c.(385-387)AGA>ACA p.R129T NM_018402 NP_060872 Q9NPH9 IL26_HUMAN interleukin 26 precursor 129 cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter cytosol|extracellular space|soluble fraction cytokine activity 0 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000515) TTTCATCTCTCTAGCTGATGA 0.239 NaN 0 0 0 0.014758 0 5 13 RAP1B 5908 broad.mit.edu 37 12 69042512 69042512 + Missense_Mutation SNP A A G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:69042512A>G uc001sub.2 + 2 171 c.8A>G c.(7-9)GAG>GGG p.E3G RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Missense_Mutation_p.E3G|RAP1B_uc010stf.1_Missense_Mutation_p.E3G|RAP1B_uc010stg.1_Missense_Mutation_p.E3G|RAP1B_uc010sth.1_Missense_Mutation_p.E3G|RAP1B_uc010sti.1_Missense_Mutation_p.E3G NM_001089704 NP_001083173 P61224 RAP1B_HUMAN SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family; 3 blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion cell-cell junction|cytosol GDP binding|GTP binding|GTPase activity|protein binding 0 Breast(13;1.24e-05) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GBM - Glioblastoma multiforme(7;0.000306) ATCATGCGTGAGTATAAGCTA 0.373 NaN 0 0 0 0.139131 0 520 27 NUP107 57122 broad.mit.edu 37 12 69109478 69109478 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:69109478C>G uc001suf.2 + 12 1156 c.1041C>G c.(1039-1041)CTC>CTG p.L347L NUP107_uc001sug.2_Silent_p.L194L|NUP107_uc010stj.1_Silent_p.L318L NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 347 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) TTAGATTACTCAAATATCTCT 0.333 NaN 0 0 0 0.0333 0 17 894 PTPRB 5787 broad.mit.edu 37 12 70932750 70932750 + Silent SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:70932750G>C uc001swb.3 - 25 5199 c.5169C>G c.(5167-5169)CTC>CTG p.L1723L PTPRB_uc010sto.1_Silent_p.L1633L|PTPRB_uc010stp.1_Silent_p.L1633L|PTPRB_uc001swc.3_Silent_p.L1941L|PTPRB_uc001swa.3_Silent_p.L1853L NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1723 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCTCCGGCAAGAGTGCAATGT 0.368 NaN 0 0 0 0.09319 0 13 23 TSPAN8 7103 broad.mit.edu 37 12 71526475 71526475 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:71526475C>G uc009zrt.1 - 6 736 c.574G>C c.(574-576)GAG>CAG p.E192Q TSPAN8_uc001swk.1_Missense_Mutation_p.E192Q|TSPAN8_uc001swj.1_Missense_Mutation_p.E192Q NM_004616 NP_004607 P19075 TSN8_HUMAN transmembrane 4 superfamily member 3 192 Extracellular (Potential). protein glycosylation integral to membrane|lysosome signal transducer activity skin(2)|lung(1)|central_nervous_system(1) 4 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) GTTCTCACCTCTTTGTAAACT 0.343 NaN 0 0 0 0.054565 0 34 120 ZFC3H1 196441 broad.mit.edu 37 12 72057372 72057372 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:72057372G>C uc001swo.2 - 1 378 c.19C>G c.(19-21)CCG>GCG p.P7A ZFC3H1_uc010sts.1_Missense_Mutation_p.P7A|ZFC3H1_uc001swp.2_Missense_Mutation_p.P7A|THAP2_uc001swq.2_5'Flank NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 7 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 GCCGGGGCCGGAGTATCTGCG 0.602 NaN OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.139131 0 98 96 C12orf74 338809 broad.mit.edu 37 12 93100450 93100450 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:93100450G>C uc001tch.1 + 2 273 c.43G>C c.(43-45)GAC>CAC p.D15H C12orf74_uc001tci.2_Missense_Mutation_p.D15H NM_001037671 NP_001032760 Q32Q52 CL074_HUMAN hypothetical protein LOC338809 15 0 GCCACCCCAAGACTGTGGAGC 0.557 NaN 0 0 0 0.0333 0 17 55 C12orf74 338809 broad.mit.edu 37 12 93100519 93100519 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:93100519G>C uc001tch.1 + 2 342 c.112G>C c.(112-114)GAC>CAC p.D38H C12orf74_uc001tci.2_Missense_Mutation_p.D38H NM_001037671 NP_001032760 Q32Q52 CL074_HUMAN hypothetical protein LOC338809 38 0 CCTCCAGTTTGACCGGCAAGC 0.622 NaN 0 0 0 0.116897 0 23 70 ACACB 32 broad.mit.edu 37 12 109702924 109702924 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:109702924G>C uc001tob.2 + 51 7071 c.6952G>C c.(6952-6954)GAG>CAG p.E2318Q ACACB_uc001toc.2_Missense_Mutation_p.E2318Q|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.E984Q NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 2318 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GGACATCCTGGAGTGGAAGAC 0.647 NaN 0 0 0 0.134883 0 30 150 ATP2A2 488 broad.mit.edu 37 12 110720594 110720594 + Missense_Mutation SNP A A G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:110720594A>G uc001tqk.3 + 3 776 c.213A>G c.(211-213)ATA>ATG p.I71M ATP2A2_uc001tql.3_Missense_Mutation_p.I71M|ATP2A2_uc010sxy.1_Missense_Mutation_p.I71M NM_170665 NP_733765 P16615 AT2A2_HUMAN ATPase, Ca++ transporting, slow twitch 2 isoform 71 Lumenal (By similarity). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding ovary(3)|skin(1) 4 CAGCATGTATATCTTTTGTAA 0.328 NaN 0 0 0 0.055883 0 19 59 CCDC63 160762 broad.mit.edu 37 12 111291361 111291361 + Missense_Mutation SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:111291361G>T uc001trv.1 + 3 357 c.162G>T c.(160-162)CAG>CAT p.Q54H CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Missense_Mutation_p.Q14H|CCDC63_uc001trw.1_Intron NM_152591 NP_689804 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 54 Potential. RQQFRKMVESRKSFKFRNQQKIASQY -> VGSAVAAAVGQ AARAATDKQSGPRHC (in Ref. 2; AAH64580). skin(6)|ovary(1)|pancreas(1) 8 GAAACCAGCAGAAGATTGCGA 0.512 NaN 1 0 7.03913e-09 0.09319 7.41223e-09 12 39 CUX2 23316 broad.mit.edu 37 12 111655742 111655742 + Splice_Site SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:111655742G>T uc001tsa.1 + 3 375 c.222_splice c.e3+1 p.E74_splice CUX2_uc001tsb.1_Splice_Site_p.E129_splice NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 CCAAGCCGAGGTAAGACCCAG 0.562 NaN 1 0 8.81991e-31 0.139131 9.73457e-31 53 66 NAA25 80018 broad.mit.edu 37 12 112477050 112477050 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:112477050C>G uc001ttm.2 - 22 2652 c.2632G>C c.(2632-2634)GAA>CAA p.E878Q NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.E850Q|NAA25_uc009zwa.1_Missense_Mutation_p.E856Q NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 878 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 ATGCTGGTTTCTTTTTTCTTC 0.348 NaN 0 0 0 0.146539 0 17 38 C12orf51 283450 broad.mit.edu 37 12 112694164 112694164 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:112694164C>G uc009zwc.2 - 14 2009 c.1991G>C c.(1990-1992)AGA>ACA p.R664T C12orf51_uc010syk.1_Missense_Mutation_p.R487T|C12orf51_uc001tts.2_Missense_Mutation_p.R487T|C12orf51_uc001ttt.3_Missense_Mutation_p.R485T NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GCTATCAAATCTAAGGTACAG 0.443 NaN 0 0 0 0.134883 0 26 101 VSIG10 54621 broad.mit.edu 37 12 118517226 118517226 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:118517226C>G uc001tws.2 - 4 1184 c.850G>C c.(850-852)GAT>CAT p.D284H NM_019086 NP_061959 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 284 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane 0 TTCTTGCCATCCGACAGCTGG 0.537 NaN 0 0 0 0.080935 0 12 72 COQ5 84274 broad.mit.edu 37 12 120966898 120966898 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:120966898C>T uc001tyn.2 - 1 67 c.47G>A c.(46-48)GGG>GAG p.G16E COQ5_uc001tyo.2_5'UTR|COQ5_uc010szj.1_Missense_Mutation_p.G16E NM_032314 NP_115690 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase 16 ubiquinone biosynthetic process mitochondrion methyltransferase activity ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCGCGACCACCCACGGCCGCA 0.647 NaN 0 0 0 0.116897 0 27 25 DNAH10 196385 broad.mit.edu 37 12 124298176 124298176 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:124298176G>A uc001uft.3 + 19 3281 c.3256G>A c.(3256-3258)GAA>AAA p.E1086K DNAH10_uc010tav.1_Missense_Mutation_p.E628K|DNAH10_uc010taw.1_Missense_Mutation_p.E571K NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1086 Stem (By similarity).|Potential. microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TAATCTCCATGAAGAGATGGA 0.423 NaN 0 0 0 0.099896 0 26 66 NCOR2 9612 broad.mit.edu 37 12 124957593 124957593 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:124957593G>A uc010tba.1 - 4 613 c.496C>T c.(496-498)CGG>TGG p.R166W NCOR2_uc010tay.1_Missense_Mutation_p.R166W|NCOR2_uc010taz.1_Missense_Mutation_p.R166W|NCOR2_uc010tbb.1_Missense_Mutation_p.R166W|NCOR2_uc010tbc.1_Missense_Mutation_p.R166W|NCOR2_uc001ugj.1_Missense_Mutation_p.R166W|NCOR2_uc001ugk.1_Missense_Mutation_p.R166W NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 166 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TTGGACAGCCGTGGCGGCACC 0.602 NaN 0 0 0 0.0918 0 26 88 TMEM132D 121256 broad.mit.edu 37 12 129559559 129559559 + Missense_Mutation SNP T T G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:129559559T>G uc009zyl.1 - 9 2489 c.2161A>C c.(2161-2163)ACG>CCG p.T721P TMEM132D_uc001uia.2_Missense_Mutation_p.T259P NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 721 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TCCAAGGGCGTGACTGAGCCA 0.473 NaN 0 0 0 0.059317 0 31 100 PSPC1 55269 broad.mit.edu 37 13 20315736 20315736 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr13:20315736C>G uc001uml.2 - 5 1207 c.1021G>C c.(1021-1023)GAG>CAG p.E341Q PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA NM_001042414 NP_001035879 Q8WXF1 PSPC1_HUMAN paraspeckle protein 1 341 Sufficient for perinucleolar caps localization and interaction with NONO.|Potential.|Sufficient for paraspeckles localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1) 1 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) TTTTGCAACTCTTGGTTTCTG 0.328 NaN 0 0 0 0.108266 0 21 91 FRY 10129 broad.mit.edu 37 13 32802752 32802752 + Missense_Mutation SNP A A T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr13:32802752A>T uc001utx.2 + 40 5862 c.5366A>T c.(5365-5367)GAT>GTT p.D1789V FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1789 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GCTGAAACAGATGAGAAGGCA 0.512 NaN 0 0 0 0.139131 0 50 68 LECT1 11061 broad.mit.edu 37 13 53282807 53282807 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr13:53282807C>T uc001vhf.2 - 6 764 c.653G>A c.(652-654)AGA>AAA p.R218K LECT1_uc001vhg.2_Missense_Mutation_p.R218K|LECT1_uc001vhh.2_Missense_Mutation_p.R207K NM_007015 NP_008946 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 isoform 1 218 cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane ovary(2) 2 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) AACAATTTTTCTTACCACTTC 0.393 NaN 0 0 0 0.069456 0 33 111 PCDH9 5101 broad.mit.edu 37 13 67801771 67801771 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr13:67801771C>G uc001vik.2 - 2 1494 c.802G>C c.(802-804)GGT>CGT p.G268R PCDH9_uc001vil.2_Missense_Mutation_p.G268R|PCDH9_uc010thl.1_Missense_Mutation_p.G268R|PCDH9_uc001vin.3_Missense_Mutation_p.G268R NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 268 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) ACAGAGGTACCTACGGGAGCA 0.483 NaN 0 0 0 0.139131 0 60 55 MYH7 4625 broad.mit.edu 37 14 23885425 23885425 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr14:23885425C>T uc001wjx.2 - 34 4847 c.4741G>A c.(4741-4743)GAG>AAG p.E1581K NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1581 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TCCATCTCCTCGTCCTTCTCT 0.647 NaN 0 0 0 0.139131 0 51 368 NIN 51199 broad.mit.edu 37 14 51225101 51225101 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr14:51225101C>G uc001wym.2 - 18 2838 c.2647G>C c.(2647-2649)GAG>CAG p.E883Q NIN_uc001wyi.2_Missense_Mutation_p.E883Q|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.E889Q|NIN_uc001wyo.2_Missense_Mutation_p.E883Q NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 883 Potential. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) GTTGTTTTCTCTCTCTTAAGA 0.502 NaN T PDGFRB MPD 0 0 0 0.139131 0 94 36 DHRS7 51635 broad.mit.edu 37 14 60620715 60620715 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr14:60620715C>T uc001xes.2 - 3 539 c.355G>A c.(355-357)GAA>AAA p.E119K C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Missense_Mutation_p.E69K|DHRS7_uc001xeu.2_Missense_Mutation_p.E119K NM_016029 NP_057113 Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 119 binding|oxidoreductase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.121) GTAGCCGCTTCATGGGAACCA 0.388 NaN 0 0 0 0.076483 0 20 97 KCNH5 27133 broad.mit.edu 37 14 63246455 63246455 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr14:63246455C>G uc001xfx.2 - 10 2061 c.2010G>C c.(2008-2010)CTG>CTC p.L670L KCNH5_uc001xfy.2_Intron|KCNH5_uc001xfz.1_Silent_p.L612L NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 670 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CCCGTTTCCTCAGATTGCAAG 0.393 NaN 0 0 0 0.139131 0 93 84 C14orf4 64207 broad.mit.edu 37 14 77492242 77492242 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr14:77492242C>G uc001xsy.2 - 1 2793 c.1894G>C c.(1894-1896)GAT>CAT p.D632H NM_024496 NP_078772 Q9H1B7 I2BPL_HUMAN chromosome 14 open reading frame 4 632 nucleus 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878) CCCAGAGTATCTGCCACCGAC 0.632 NaN 0 0 0 0.080935 0 11 31 SERPINA4 5267 broad.mit.edu 37 14 95033347 95033347 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr14:95033347C>G uc001ydk.2 + 3 756 c.690C>G c.(688-690)CCC>CCG p.P230P SERPINA4_uc010avd.2_Silent_p.P267P|SERPINA4_uc001ydl.2_Silent_p.P230P NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 230 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) GGACCACTCCCAAAGACTTCT 0.507 NaN 0 0 0 0.038395 0 19 121 EVL 51466 broad.mit.edu 37 14 100595958 100595958 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr14:100595958G>A uc001ygt.2 + 7 1009 c.770G>A c.(769-771)CGG>CAG p.R257Q EVL_uc001ygv.2_Missense_Mutation_p.R263Q|EVL_uc001ygu.2_Missense_Mutation_p.R259Q|EVL_uc010avu.2_Missense_Mutation_p.R116Q NM_016337 NP_057421 Q9UI08 EVL_HUMAN Enah/Vasp-like 257 EVH2. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding large_intestine(2)|ovary(1) 3 Melanoma(154;0.152) GATGCCAACCGGGCAAGCAGC 0.587 NaN 0 0 0 0.131918 0 45 22 OCA2 4948 broad.mit.edu 37 15 28211933 28211933 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr15:28211933G>A uc001zbh.3 - 15 1649 c.1539C>T c.(1537-1539)TTC>TTT p.F513F OCA2_uc010ayv.2_Silent_p.F489F NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 513 Extracellular (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AAATCCCAATGAACATGTGTG 0.398 NaN Oculocutaneous_Albinism 0 0 0 0.062417 0 22 19 TJP1 7082 broad.mit.edu 37 15 30011184 30011184 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr15:30011184G>A uc001zcr.2 - 21 3637 c.3162C>T c.(3160-3162)CTC>CTT p.L1054L TJP1_uc010azl.2_Silent_p.L1042L|TJP1_uc001zcq.2_Silent_p.L978L|TJP1_uc001zcs.2_Silent_p.L974L NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 1054 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TGGGCTGCTCGAGGTCTCTGC 0.517 NaN 0 0 0 0.139131 0 124 422 OTUD7A 161725 broad.mit.edu 37 15 31776455 31776455 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr15:31776455C>T uc001zfq.2 - 11 1916 c.1823G>A c.(1822-1824)CGG>CAG p.R608Q OTUD7A_uc001zfr.2_Missense_Mutation_p.R615Q NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 608 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) GGCGTCGCCCCGCGGCCCACC 0.697 NaN 0 0 0 0.047766 0 8 14 UNC13C 440279 broad.mit.edu 37 15 54919034 54919034 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr15:54919034G>A uc002ack.2 + 31 6368 c.6368G>A c.(6367-6369)GGA>GAA p.G2123E UNC13C_uc002acm.2_Missense_Mutation_p.G44E NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 2123 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGCATTCTCGGAAAGGAAAAT 0.284 NaN 0 0 0 0.038147 0 6 17 SLTM 79811 broad.mit.edu 37 15 59179725 59179725 + Missense_Mutation SNP A A T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr15:59179725A>T uc002afp.2 - 18 2478 c.2390T>A c.(2389-2391)GTT>GAT p.V797D SLTM_uc002afn.2_Missense_Mutation_p.V339D|SLTM_uc002afo.2_Missense_Mutation_p.V779D|SLTM_uc002afq.2_Missense_Mutation_p.V366D|SLTM_uc010bgd.2_Missense_Mutation_p.V366D NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 797 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 ACTTTGACCAACAAAGCGATC 0.403 NaN 0 0 0 0.092188 0 41 101 CLN6 54982 broad.mit.edu 37 15 68504196 68504196 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr15:68504196G>A uc002arf.2 - 4 461 c.303C>T c.(301-303)ATC>ATT p.I101I CLN6_uc010ujy.1_Intron|CLN6_uc010ujz.1_Silent_p.I133I NM_017882 NP_060352 Q9NWW5 CLN6_HUMAN CLN6 protein 101 Helical; (Potential). cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane protein homodimerization activity 0 GGGACCGCTCGATGAGCTGGG 0.612 NaN 0 0 0 0.055883 0 22 72 TBC1D21 161514 broad.mit.edu 37 15 74180837 74180837 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr15:74180837G>C uc002avz.2 + 10 1044 c.961G>C c.(961-963)GAG>CAG p.E321Q TBC1D21_uc010ulc.1_Missense_Mutation_p.E285Q NM_153356 NP_699187 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 321 intracellular Rab GTPase activator activity ovary(2) 2 GGTTTATGCTGAGCTCATCCA 0.383 NaN 0 0 0 0.047766 0 8 52 ZNF710 374655 broad.mit.edu 37 15 90622959 90622959 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr15:90622959C>T uc002bov.1 + 5 2016 c.1893C>T c.(1891-1893)TTC>TTT p.F631F NM_198526 NP_940928 Q8N1W2 ZN710_HUMAN zinc finger protein 710 631 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) TGGAGGACTTCGAGGAGAACG 0.582 NaN 0 0 0 0.117977 0 37 130 FURIN 5045 broad.mit.edu 37 15 91421501 91421501 + Silent SNP C C T rs146865309 TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr15:91421501C>T uc002bpu.1 + 8 1023 c.807C>T c.(805-807)CTC>CTT p.L269L NM_002569 NP_002560 P09958 FURIN_HUMAN furin preproprotein 269 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity central_nervous_system(4)|lung(2)|breast(1) 7 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CAGCCCGCCTCGCCGAGGAGG 0.642 NaN 0 0 0 0.038395 0 17 28 AXIN1 8312 broad.mit.edu 37 16 347183 347183 + Nonsense_Mutation SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:347183C>A uc002cgp.1 - 7 2005 c.1828G>T c.(1828-1830)GAG>TAG p.E610* AXIN1_uc002cgq.1_Nonsense_Mutation_p.E610* NM_003502 NP_003493 O15169 AXIN1_HUMAN axin 1 isoform a 610 Interaction with RNF111.|Interaction with PPP2CA. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding breast(1)|liver(1) 2 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) TTCCCCGACTCAGCCTTCTTG 0.612 NaN 1 0 3.33393e-45 0.139131 3.72101e-45 88 308 STUB1 10273 broad.mit.edu 37 16 731323 731323 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:731323G>C uc002cit.2 + 2 742 c.331G>C c.(331-333)GAT>CAT p.D111H STUB1_uc002ciu.2_Missense_Mutation_p.D39H|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA NM_005861 NP_005852 Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1 111 TPR 3. cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity 0 Hepatocellular(780;0.00335) GGAGAGCTATGATGAGGCCAT 0.667 NaN 0 0 0 0.038395 0 18 44 STUB1 10273 broad.mit.edu 37 16 732373 732373 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:732373C>T uc002cit.2 + 7 1207 c.796C>T c.(796-798)CAT>TAT p.H266Y STUB1_uc002ciu.2_Missense_Mutation_p.H194Y|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR NM_005861 NP_005852 Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1 266 U-box. cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity 0 Hepatocellular(780;0.00335) GCGTGTGGGTCATTTTGACCC 0.612 NaN 0 0 0 0.139131 0 64 73 XYLT1 64131 broad.mit.edu 37 16 17353054 17353054 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:17353054C>G uc002dfa.2 - 3 789 c.704G>C c.(703-705)AGA>ACA p.R235T NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 235 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 ATGAGGCGGTCTGGACACATC 0.612 NaN 0 0 0 0.139131 0 47 187 TNRC6A 27327 broad.mit.edu 37 16 24815594 24815594 + Missense_Mutation SNP A A G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:24815594A>G uc002dmm.2 + 12 3905 c.3791A>G c.(3790-3792)CAG>CGG p.Q1264R TNRC6A_uc010bxs.2_Missense_Mutation_p.Q1011R|TNRC6A_uc002dmn.2_Missense_Mutation_p.Q1011R|TNRC6A_uc002dmo.2_Missense_Mutation_p.Q952R|TNRC6A_uc002dmp.2_5'UTR|TNRC6A_uc002dmq.2_5'Flank NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1264 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) TCTCGGCCTCAGATTTCCAAA 0.393 NaN 0 0 0 0.09836 0 40 42 ARHGAP17 55114 broad.mit.edu 37 16 24988548 24988548 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:24988548G>A uc002dnb.2 - 3 279 c.186C>T c.(184-186)GCC>GCT p.A62A ARHGAP17_uc002dnc.2_Silent_p.A62A|ARHGAP17_uc010vcf.1_Intron|ARHGAP17_uc002dng.1_Silent_p.A62A NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN nadrin isoform 1 62 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding 0 GBM - Glioblastoma multiforme(48;0.0407) GTCTCCTCTCGGCATCGGTGC 0.547 NaN 0 0 0 0.058154 0 10 53 XPO6 23214 broad.mit.edu 37 16 28137114 28137114 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:28137114C>G uc002dpa.1 - 13 2163 c.1662G>C c.(1660-1662)CTG>CTC p.L554L XPO6_uc002dpb.1_Silent_p.L540L|XPO6_uc010vcp.1_Silent_p.L554L NM_015171 NP_055986 Q96QU8 XPO6_HUMAN exportin 6 554 protein export from nucleus protein binding|protein transporter activity ovary(1)|skin(1) 2 TCAAGTCTCTCAGGGAGCAGT 0.592 NaN 0 0 0 0.139131 0 46 118 TEPP 374739 broad.mit.edu 37 16 58019836 58019836 + Missense_Mutation SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:58019836C>A uc002emw.3 + 7 813 c.776C>A c.(775-777)TCC>TAC p.S259Y TEPP_uc002emv.3_Missense_Mutation_p.S286Y NM_199456 NP_955535 Q6URK8 TEPP_HUMAN testis/prostate/placenta-expressed protein 259 extracellular region kidney(1)|central_nervous_system(1)|skin(1) 3 AGCTTCGGCTCCAGCTACAGG 0.652 NaN 1 0 3.27435e-08 0.11911 3.43576e-08 11 33 ACD 65057 broad.mit.edu 37 16 67691914 67691914 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:67691914C>T uc002etq.3 - 10 1776 c.1439G>A c.(1438-1440)GGA>GAA p.G480E ACD_uc002etp.3_Missense_Mutation_p.G477E|ACD_uc002etr.3_Missense_Mutation_p.G477E|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank NM_001082486 NP_001075955 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog isoform 1 480 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding pancreas(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CTCCTGGGCTCCCCTGGTAGC 0.607 NaN 0 0 0 0.108266 0 25 85 CIRH1A 84916 broad.mit.edu 37 16 69199280 69199280 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:69199280G>C uc002ews.3 + 15 1780 c.1684G>C c.(1684-1686)GAT>CAT p.D562H CIRH1A_uc002ewr.2_Missense_Mutation_p.D562H|CIRH1A_uc002ewt.3_Missense_Mutation_p.D479H|CIRH1A_uc010cfi.2_Missense_Mutation_p.D364H NM_032830 NP_116219 Q969X6 CIR1A_HUMAN cirhin 562 WD 11. nucleolus protein binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.125) ACAGTATACAGATTGGAGCCG 0.488 NaN 0 0 0 0.069234 0 11 52 SPAG7 9552 broad.mit.edu 37 17 4863785 4863785 + Nonsense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:4863785G>A uc002gae.2 - 3 244 c.211C>T c.(211-213)CAG>TAG p.Q71* SPAG7_uc002gad.2_Nonsense_Mutation_p.Q20*|SPAG7_uc002gaf.2_Nonsense_Mutation_p.Q71* NM_004890 NP_004881 O75391 SPAG7_HUMAN sperm associated antigen 7 71 R3H. nucleus nucleic acid binding|protein binding ovary(1)|central_nervous_system(1) 2 TTCATTGGCTGAAACTTTTTC 0.532 NaN 0 0 0 0.139131 0 59 67 USP43 124739 broad.mit.edu 37 17 9559744 9559744 + Nonsense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:9559744C>T uc010cod.2 + 2 529 c.529C>T c.(529-531)CAG>TAG p.Q177* USP43_uc002gma.3_5'UTR|USP43_uc010vva.1_Nonsense_Mutation_p.Q177*|USP43_uc010coe.2_Silent_p.L8L NM_153210 NP_694942 Q70EL4 UBP43_HUMAN ubiquitin specific protease 43 177 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GTACGGCTCTCAGTTCCAAGG 0.522 NaN 0 0 0 0.115264 0 3 15 MYH1 4619 broad.mit.edu 37 17 10400658 10400658 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:10400658C>G uc002gmo.2 - 32 4571 c.4477G>C c.(4477-4479)GAG>CAG p.E1493Q uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1493 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 AAAGATTCCTCATAAGCATTC 0.343 NaN 0 0 0 0.062417 0 19 64 MYH1 4619 broad.mit.edu 37 17 10400727 10400727 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:10400727C>G uc002gmo.2 - 32 4502 c.4408G>C c.(4408-4410)GAA>CAA p.E1470Q uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1470 Potential. E -> V (in Ref. 4; CAA27380). muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 GCTTCAAGTTCAGCATGAGTT 0.378 NaN 0 0 0 0.080935 0 10 48 PHF12 57649 broad.mit.edu 37 17 27254016 27254016 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:27254016C>G uc002hdg.1 - 3 844 c.314G>C c.(313-315)CGC>CCC p.R105P PHF12_uc010wbb.1_Missense_Mutation_p.R87P|PHF12_uc002hdi.1_Missense_Mutation_p.R101P|PHF12_uc002hdj.1_Missense_Mutation_p.R105P|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdk.1_Missense_Mutation_p.R101P|uc002hdl.2_Intron|PHF12_uc002hdh.1_5'Flank NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN PHD finger protein 12 isoform 1 105 PHD-type 1.|Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding ovary(1) 1 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) TACCTTTCGGCGAACAGTGCA 0.493 NaN 0 0 0 0.038147 0 8 77 WNK4 65266 broad.mit.edu 37 17 40936120 40936120 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:40936120C>T uc002ibj.2 + 3 978 c.957C>T c.(955-957)ATC>ATT p.I319I WNK4_uc010wgx.1_Missense_Mutation_p.S13L|WNK4_uc002ibk.1_Silent_p.I91I|WNK4_uc010wgy.1_5'Flank NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 319 Protein kinase. intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CTGTCAAAATCGGGGACCTGG 0.597 NaN 0 0 0 0.139131 0 64 202 CA10 56934 broad.mit.edu 37 17 49713340 49713340 + Missense_Mutation SNP A A G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:49713340A>G uc002itw.3 - 7 1651 c.665T>C c.(664-666)ATA>ACA p.I222T CA10_uc002itu.3_Missense_Mutation_p.I151T|CA10_uc002itv.3_Missense_Mutation_p.I228T|CA10_uc002itx.3_Missense_Mutation_p.I222T|CA10_uc002ity.3_Missense_Mutation_p.I222T|CA10_uc002itz.2_Missense_Mutation_p.I222T NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 222 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TAGTTCCTCTATATTAAGCCC 0.368 NaN 0 0 0 0.045705 0 29 82 HELZ 9931 broad.mit.edu 37 17 65119237 65119237 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:65119237C>G uc010wqk.1 - 26 3669 c.3482G>C c.(3481-3483)AGA>ACA p.R1161T HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.R1160T NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AGTATATGCTCTAATAGGATT 0.408 NaN 0 0 0 0.038395 0 18 45 PSMD12 5718 broad.mit.edu 37 17 65340841 65340841 + Nonsense_Mutation SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:65340841C>A uc002jfy.2 - 9 1050 c.964G>T c.(964-966)GAG>TAG p.E322* PSMD12_uc002jga.2_Nonsense_Mutation_p.E302*|PSMD12_uc002jfz.2_Nonsense_Mutation_p.E263* NM_002816 NP_002807 O00232 PSD12_HUMAN proteasome 26S non-ATPase subunit 12 isoform 1 322 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding 0 all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13) CCATAGTCCTCAACAAGTGTG 0.363 NaN 1 0 4.7546e-09 0.146539 5.02437e-09 13 61 ABCA8 10351 broad.mit.edu 37 17 66933153 66933153 + Silent SNP A A G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:66933153A>G uc002jhp.2 - 4 584 c.405T>C c.(403-405)TAT>TAC p.Y135Y ABCA8_uc002jhq.2_Silent_p.Y135Y|ABCA8_uc010wqq.1_Silent_p.Y135Y|ABCA8_uc010wqr.1_Silent_p.Y74Y|ABCA8_uc002jhr.2_Silent_p.Y135Y|ABCA8_uc002jhs.2_Silent_p.Y135Y|ABCA8_uc002jht.2_Silent_p.Y135Y NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 135 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) ACTTCAAATGATATGAGTATG 0.368 NaN 0 0 0 0.0918 0 25 55 COG1 9382 broad.mit.edu 37 17 71197988 71197988 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:71197988C>T uc002jjg.2 + 7 2058 c.2022C>T c.(2020-2022)CTC>CTT p.L674L COG1_uc002jjh.2_Silent_p.L674L|COG1_uc002jjf.1_Silent_p.L674L NM_018714 NP_061184 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 674 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.197) AAGAAGTACTCCTCCAGCAGA 0.463 NaN 0 0 0 0.0333 0 16 53 DSG2 1829 broad.mit.edu 37 18 29101087 29101087 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr18:29101087G>A uc002kwu.3 + 5 592 c.404G>A c.(403-405)AGA>AAA p.R135K NM_001943 NP_001934 Q14126 DSG2_HUMAN desmoglein 2 preproprotein 135 Extracellular (Potential).|Cadherin 1. 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) TTGGATGCAAGAGGAAACAAT 0.343 NaN 0 0 0 0.076483 0 23 67 SETBP1 26040 broad.mit.edu 37 18 42530401 42530401 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr18:42530401G>A uc010dni.2 + 4 1392 c.1096G>A c.(1096-1098)GAA>AAA p.E366K NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 366 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TGACAATACAGAAGGGAAAAG 0.453 NaN Schinzel-Giedion_syndrome 0 0 0 0.055883 0 20 54 MALT1 10892 broad.mit.edu 37 18 56390314 56390314 + Missense_Mutation SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr18:56390314G>T uc002lhm.1 + 10 1311 c.1053G>T c.(1051-1053)ATG>ATT p.M351I MALT1_uc002lhn.1_Missense_Mutation_p.M340I NM_006785 NP_006776 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma 351 Caspase-like. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity ovary(2)|lung(1)|central_nervous_system(1) 4 TAGGAAATATGAATTACCGGG 0.398 NaN T BIRC3 MALT 1 0 3.62473e-10 0.062417 3.84402e-10 19 63 MUM1 84939 broad.mit.edu 37 19 1357029 1357029 + Missense_Mutation SNP T T G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:1357029T>G uc010xgm.1 + 2 148 c.79T>G c.(79-81)TCA>GCA p.S27A MUM1_uc010dsi.2_5'UTR|MUM1_uc002lrz.2_Missense_Mutation_p.S28A|MUM1_uc002lsb.2_5'UTR|MUM1_uc002lsc.1_5'Flank Q2TAK8 MUM1_HUMAN SubName: Full=MUM1 protein; 27 chromatin organization|DNA repair nucleus nucleosome binding|protein binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AACCGCGACTTCAACAAAAAA 0.358 NaN 0 0 0 0.062417 0 21 44 AP3D1 8943 broad.mit.edu 37 19 2130435 2130435 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:2130435C>T uc002luz.2 - 6 787 c.564G>A c.(562-564)CTG>CTA p.L188L AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Silent_p.L188L NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 188 HEAT 4. eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTTCTCCTTCAGCCGGGGAA 0.602 NaN 0 0 0 0.144211 0 32 75 DOT1L 84444 broad.mit.edu 37 19 2216303 2216303 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:2216303G>A uc002lvb.3 + 20 1983 c.1947G>A c.(1945-1947)AAG>AAA p.K649K DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_5'UTR NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 649 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTAGAGAAGAGCCAGCGGC 0.662 NaN 0 0 0 0.064281 0 32 69 DOT1L 84444 broad.mit.edu 37 19 2216319 2216319 + Nonsense_Mutation SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 G T G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:2216319G>T uc002lvb.3 + 20 1999 c.1963G>T c.(1963-1965)GAG>TAG p.E655* DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_5'UTR NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 655 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGGCAGCAGGAGCTCCTGCA 0.672 NaN 1 0 1.64293e-13 0.083992 1.74855e-13 23 52 JSRP1 126306 broad.mit.edu 37 19 2254207 2254207 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:2254207C>G uc002lvi.1 - 3 276 c.241G>C c.(241-243)GAG>CAG p.E81Q JSRP1_uc002lvj.1_Missense_Mutation_p.E81Q NM_144616 NP_653217 Q96MG2 JSPR1_HUMAN junctional sarcoplasmic reticulum protein 1 81 sarcoplasmic reticulum membrane pancreas(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTCAGCCTCTCCTTCCCCGTT 0.637 NaN OREG0025137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.139131 0 63 167 DPP9 91039 broad.mit.edu 37 19 4690967 4690967 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:4690967C>G uc002mba.2 - 14 1777 c.1519G>C c.(1519-1521)GAA>CAA p.E507Q NM_139159 NP_631898 Q86TI2 DPP9_HUMAN dipeptidylpeptidase 9 478 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) CACTTAAATTCATCTGGAAAG 0.562 NaN 0 0 0 0.009096 0 4 13 SAFB2 9667 broad.mit.edu 37 19 5591776 5591776 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:5591776C>G uc002mcd.2 - 17 2589 c.2377G>C c.(2377-2379)GAC>CAC p.D793H NM_014649 NP_055464 Q14151 SAFB2_HUMAN scaffold attachment factor B2 793 Interacts with SAFB1.|Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding 0 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) TCCCGGTGGTCTCCCATCATT 0.592 NaN 0 0 0 0.105934 0 11 46 MYO1F 4542 broad.mit.edu 37 19 8587680 8587680 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:8587680C>G uc002mkg.2 - 26 3002 c.2888G>C c.(2887-2889)AGA>ACA p.R963T NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 963 VPPSARGGPL -> APLCPQGGAPC (in Ref. 5; CAA67058). unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 GGGGCCCCCTCTGGCAGAGGG 0.652 NaN 0 0 0 0.009096 0 4 8 ADAMTS10 81794 broad.mit.edu 37 19 8670203 8670203 + Missense_Mutation SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:8670203G>T uc002mkj.1 - 4 403 c.129C>A c.(127-129)TTC>TTA p.F43L ADAMTS10_uc002mkk.1_5'UTR NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 43 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 CGCGGGTGGGGAAGGCGATCT 0.677 NaN 1 0 0.000442599 0.058154 0.000457967 10 13 TNPO2 30000 broad.mit.edu 37 19 12826060 12826060 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:12826060G>A uc002muo.2 - 7 830 c.645C>T c.(643-645)ATC>ATT p.I215I TNPO2_uc002mup.2_Silent_p.I307I|TNPO2_uc002muq.2_Silent_p.I215I|TNPO2_uc002mur.2_Silent_p.I215I NM_001136196 NP_001129668 O14787 TNPO2_HUMAN transportin 2 (importin 3, karyopherin beta 2b) 215 HEAT 3. intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity ovary(1) 1 GGCCCACCTCGATGAAGGTGT 0.642 NaN 0 0 0 0.02938 0 7 18 ZNF569 148266 broad.mit.edu 37 19 37917250 37917250 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:37917250C>T uc002ogi.2 - 4 604 c.46G>A c.(46-48)GAC>AAC p.D16N ZNF569_uc002ogh.2_Intron|ZNF569_uc002ogj.2_Missense_Mutation_p.D40N NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 16 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGAGTGAAGTCGATAGCCACA 0.398 NaN 0 0 0 0.139131 0 59 110 PRX 57716 broad.mit.edu 37 19 40900472 40900472 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:40900472C>G uc002onr.2 - 7 4056 c.3787G>C c.(3787-3789)GAG>CAG p.E1263Q PRX_uc002onq.2_Missense_Mutation_p.E1124Q|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 1263 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGGGGCTGCTCCTCAGCACCC 0.706 NaN 0 0 0 0.058154 0 10 24 PRX 57716 broad.mit.edu 37 19 40901150 40901150 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:40901150C>G uc002onr.2 - 7 3378 c.3109G>C c.(3109-3111)GAA>CAA p.E1037Q PRX_uc002onq.2_Missense_Mutation_p.E898Q|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 1037 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGCACTAGTTCTGCTGCCTCA 0.627 NaN 0 0 0 0.069288 0 22 140 PRX 57716 broad.mit.edu 37 19 40901173 40901173 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:40901173C>G uc002onr.2 - 7 3355 c.3086G>C c.(3085-3087)AGA>ACA p.R1029T PRX_uc002onq.2_Missense_Mutation_p.R890T|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 1029 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTCCCGGCCTCTGACCCCAAA 0.637 NaN 0 0 0 0.134883 0 26 152 PRX 57716 broad.mit.edu 37 19 40901264 40901264 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:40901264C>G uc002onr.2 - 7 3264 c.2995G>C c.(2995-2997)GAT>CAT p.D999H PRX_uc002onq.2_Missense_Mutation_p.D860H|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 999 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGGTGGGCATCCAGGCTGAGC 0.667 NaN 0 0 0 0.144211 0 29 139 PRX 57716 broad.mit.edu 37 19 40901420 40901420 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:40901420C>T uc002onr.2 - 7 3108 c.2839G>A c.(2839-2841)GAG>AAG p.E947K PRX_uc002onq.2_Missense_Mutation_p.E808K|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 947 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCCTCAGCCTCTGCCTTAGCC 0.577 NaN 0 0 0 0.139131 0 51 239 PRX 57716 broad.mit.edu 37 19 40901603 40901603 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:40901603C>G uc002onr.2 - 7 2925 c.2656G>C c.(2656-2658)GAG>CAG p.E886Q PRX_uc002onq.2_Missense_Mutation_p.E747Q|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 886 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCTGCCACCTCAGGGCCCTCC 0.637 NaN 0 0 0 0.050027 0 13 114 CEACAM21 90273 broad.mit.edu 37 19 42082676 42082676 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:42082676G>A uc002ore.3 + 1 146 c.50G>A c.(49-51)GGG>GAG p.G17E CEACAM21_uc002orc.1_Intron|CEACAM21_uc002ord.1_Intron|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Missense_Mutation_p.G17E NM_001098506 NP_001091976 Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion 17 integral to membrane ovary(1) 1 CCCTGGCAGGGGCTCTTGCTC 0.652 NaN 0 0 0 0.047766 0 9 55 ALDH16A1 126133 broad.mit.edu 37 19 49971800 49971800 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:49971800C>T uc002pnt.2 + 15 2217 c.2101C>T c.(2101-2103)CTG>TTG p.L701L ALDH16A1_uc010yar.1_Silent_p.L650L|ALDH16A1_uc010yas.1_Silent_p.L536L|ALDH16A1_uc010yat.1_Silent_p.L538L NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 701 oxidoreductase activity|protein binding skin(1) 1 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) GGCCTGTCCTCTGCTGGCCCT 0.667 NaN 0 0 0 0.11911 0 14 274 KLK14 43847 broad.mit.edu 37 19 51582812 51582812 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:51582812G>A uc002pvs.1 - 5 627 c.408C>T c.(406-408)CCC>CCT p.P136P NM_022046 NP_071329 Q9P0G3 KLK14_HUMAN kallikrein 14 preproprotein 136 Peptidase S1. epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity skin(1) 1 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) CGATCCGTGCGGGCTGCTGTA 0.657 NaN 0 0 0 0.069234 0 8 48 ZNF677 342926 broad.mit.edu 37 19 53741588 53741588 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:53741588C>T uc002qbf.1 - 5 577 c.392G>A c.(391-393)AGA>AAA p.R131K ZNF677_uc002qbg.1_Missense_Mutation_p.R131K NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) TTGATCTTTTCTGTGAGTGAG 0.358 NaN 0 0 0 0.117977 0 43 115 PRKCG 5582 broad.mit.edu 37 19 54403944 54403944 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:54403944G>A uc002qcq.1 + 14 1798 c.1516G>A c.(1516-1518)GTC>ATC p.V506I PRKCG_uc010yeg.1_Missense_Mutation_p.V506I|PRKCG_uc010yeh.1_Missense_Mutation_p.V393I NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 506 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) TAAGGAGAACGTCTTCCCCGG 0.587 NaN 0 0 0 0.139131 0 435 273 CNOT3 4849 broad.mit.edu 37 19 54656169 54656169 + Silent SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:54656169C>A uc002qdj.1 + 15 2021 c.1710C>A c.(1708-1710)ATC>ATA p.I570I CNOT3_uc010yel.1_Silent_p.I570I|CNOT3_uc002qdi.2_Silent_p.I483I|CNOT3_uc002qdk.1_Silent_p.I570I|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Silent_p.I25I NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 570 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCACAGACATCATCCTGAGCA 0.667 NaN 1 0 5.99346e-17 0.139131 6.42464e-17 54 305 ZNF671 79891 broad.mit.edu 37 19 58232870 58232870 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:58232870C>T uc002qpz.3 - 4 683 c.584G>A c.(583-585)GGG>GAG p.G195E ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.G118E|ZNF671_uc010yhf.1_Missense_Mutation_p.G97E NM_024833 NP_079109 Q8TAW3 ZN671_HUMAN zinc finger protein 671 195 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCCACATGCCCCACACAAGTA 0.488 NaN 0 0 0 0.139131 0 57 209 SNTG2 54221 broad.mit.edu 37 2 1241711 1241711 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:1241711C>T uc002qwq.2 + 10 899 c.771C>T c.(769-771)CTC>CTT p.L257L SNTG2_uc010ewi.2_Silent_p.L130L NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 257 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CTGGGATCCTCCGGTTTTACA 0.642 NaN 0 0 0 0.02938 0 6 8 TPO 7173 broad.mit.edu 37 2 1520688 1520688 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:1520688C>T uc002qww.2 + 15 2643 c.2552C>T c.(2551-2553)TCC>TTC p.S851F TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.S794F|TPO_uc002qwr.2_Missense_Mutation_p.S851F|TPO_uc002qwx.2_Missense_Mutation_p.S794F|TPO_uc010yio.1_Missense_Mutation_p.S678F|TPO_uc010yip.1_Missense_Mutation_p.S807F|TPO_uc002qwy.1_Missense_Mutation_p.S147F|TPO_uc002qwz.2_RNA NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 851 Helical; (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) ACTTGGATCTCCATGTCGCTG 0.572 NaN 0 0 0 0.074837 0 35 73 TRIM54 57159 broad.mit.edu 37 2 27505677 27505677 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:27505677C>T uc002rjo.2 + 1 78 c.78C>T c.(76-78)TGC>TGT p.C26C TRIM54_uc002rjn.2_Silent_p.C26C NM_187841 NP_912730 Q9BYV2 TRI54_HUMAN ring finger protein 30 isoform 2 26 RING-type. cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCTCATCTGCCCCATCTGCC 0.587 NaN 0 0 0 0.139131 0 72 360 PSME4 23198 broad.mit.edu 37 2 54159084 54159084 + Nonsense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:54159084G>A uc002rxp.2 - 10 1260 c.1204C>T c.(1204-1206)CAG>TAG p.Q402* PSME4_uc010yop.1_Nonsense_Mutation_p.Q288*|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 402 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AGGACAGGCTGAATAATGCAT 0.453 NaN 0 0 0 0.117977 0 44 57 REG3G 130120 broad.mit.edu 37 2 79254983 79254983 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:79254983G>A uc002snw.2 + 5 469 c.384G>A c.(382-384)ATG>ATA p.M128I REG3G_uc002snx.2_Missense_Mutation_p.M128I|REG3G_uc010ffu.2_Missense_Mutation_p.M82I NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 128 C-type lectin. acute-phase response extracellular region sugar binding 0 CTGATGTGATGAATTACTTTG 0.502 NaN 0 0 0 0.117977 0 45 174 FER1L5 90342 broad.mit.edu 37 2 97361264 97361264 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:97361264C>T uc010fia.2 + 34 3841 c.3841C>T c.(3841-3843)CGG>TGG p.R1281W FER1L5_uc002sws.3_5'UTR|FER1L5_uc010fib.1_RNA|FER1L5_uc002swt.3_5'UTR|FER1L5_uc010yus.1_5'UTR NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN fer-1-like 5 isoform 2 1281 integral to membrane ovary(1) 1 CTGGGGCCTTCGGAACATGAA 0.602 NaN 0 0 0 0.047766 0 8 8 GPR45 11250 broad.mit.edu 37 2 105858505 105858505 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:105858505G>A uc002tco.1 + 1 306 c.190G>A c.(190-192)GCT>ACT p.A64T NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 64 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 CCAGAGGCCGGCTATGCGCTC 0.617 NaN 0 0 0 0.139131 0 110 46 ST6GAL2 84620 broad.mit.edu 37 2 107460193 107460193 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:107460193G>C uc002tdq.2 - 2 360 c.241C>G c.(241-243)CCC>GCC p.P81A ST6GAL2_uc002tdr.2_Missense_Mutation_p.P81A|ST6GAL2_uc002tds.3_Missense_Mutation_p.P81A NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 81 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 TGGGCGCGGGGCAGCGCCTGG 0.657 NaN 0 0 0 0.125774 0 27 72 HNMT 3176 broad.mit.edu 37 2 138771674 138771674 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:138771674C>G uc002tvc.2 + 7 1001 c.853C>G c.(853-855)CTG>GTG p.L285V HNMT_uc002tvf.2_Missense_Mutation_p.L285V NM_006895 NP_008826 P50135 HNMT_HUMAN histamine N-methyltransferase isoform 1 285 respiratory gaseous exchange cytoplasm histamine N-methyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.125) Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103) TAATAATACTCTGAGTTTCAT 0.343 NaN 0 0 0 0.049695 0 19 112 LRP1B 53353 broad.mit.edu 37 2 141598563 141598563 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:141598563G>A uc002tvj.1 - 30 6010 c.5038C>T c.(5038-5040)CTA>TTA p.L1680L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1680 Extracellular (Potential).|LDL-receptor class B 15. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAGCCATCTAGCCTTGCCACA 0.398 NaN TSP Lung(27;0.18) 0 0 0 0.131918 0 48 62 KCNH7 90134 broad.mit.edu 37 2 163302755 163302755 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:163302755C>G uc002uch.1 - 7 1539 c.1327G>C c.(1327-1329)GAA>CAA p.E443Q KCNH7_uc002uci.2_Missense_Mutation_p.E436Q NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 443 Extracellular (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) TAGCCACATTCTCGTCTTTTC 0.378 NaN 0 0 0 0.108266 0 28 39 NFE2L2 4780 broad.mit.edu 37 2 178095734 178095734 + Missense_Mutation SNP T T G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 T G T T Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:178095734T>G uc002ulh.3 - 5 2152 c.1597A>C c.(1597-1599)AAA>CAA p.K533Q NFE2L2_uc002ulg.3_Missense_Mutation_p.K517Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.K510Q|NFE2L2_uc002uli.3_Missense_Mutation_p.K517Q NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 533 Leucine-zipper. transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TTTTCATCTTTCAAATGATCT 0.343 NaN Mis NSCLC|HNSCC HNSCC(56;0.16) 0 0 0 0.139131 0 101 103 TTN 7273 broad.mit.edu 37 2 179482509 179482509 + Missense_Mutation SNP T T C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:179482509T>C uc010zfg.1 - 202 40089 c.39865A>G c.(39865-39867)ATT>GTT p.I13289V TTN_uc010zfh.1_Missense_Mutation_p.I6984V|TTN_uc010zfi.1_Missense_Mutation_p.I6917V|TTN_uc010zfj.1_Missense_Mutation_p.I6792V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14216 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) GGCTTACCAATTGGATCAGCA 0.378 NaN 0 0 0 0.062417 0 17 68 CASP8 841 broad.mit.edu 37 2 202141587 202141587 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:202141587G>A uc002uxr.1 + 8 907 c.698G>A c.(697-699)CGG>CAG p.R233Q CASP8_uc002uxo.1_Silent_p.S211S|CASP8_uc002uxp.1_Missense_Mutation_p.R250Q|CASP8_uc002uxq.1_Missense_Mutation_p.R218Q|CASP8_uc002uxt.1_Missense_Mutation_p.R292Q|CASP8_uc002uxu.1_RNA|CASP8_uc002uxv.1_Missense_Mutation_p.R218Q|CASP8_uc002uxw.1_Missense_Mutation_p.R218Q|CASP8_uc002uxy.1_Missense_Mutation_p.R233Q|CASP8_uc002uxx.1_Missense_Mutation_p.R218Q|CASP8_uc010ftf.2_Intron|CASP8_uc010fte.1_Silent_p.S93S NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 233 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 AGCAAACCTCGGGGATACTGT 0.428 NaN HNSCC(4;0.00038) 0 0 0 0.134883 0 26 21 PLCD4 84812 broad.mit.edu 37 2 219501002 219501002 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:219501002G>A uc002vij.1 + 15 2264 c.2069G>A c.(2068-2070)CGG>CAG p.R690Q NM_032726 NP_116115 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 690 C2. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3) 3 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CTATGTTTCCGGGTGCTGGTG 0.448 NaN 0 0 0 0.139131 0 168 183 KIF1A 547 broad.mit.edu 37 2 241702670 241702670 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:241702670G>A uc002vzy.2 - 20 1981 c.1835C>T c.(1834-1836)ACG>ATG p.T612M KIF1A_uc010fzk.2_Missense_Mutation_p.T621M|KIF1A_uc002vzz.1_Missense_Mutation_p.T621M NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 612 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CTCAGCTGGCGTCTCCGCACA 0.642 NaN 0 0 0 0.021553 0 6 11 NSFL1C 55968 broad.mit.edu 37 20 1433180 1433180 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr20:1433180C>T uc002wfc.2 - 7 1691 c.743G>A c.(742-744)GGA>GAA p.G248E NSFL1C_uc002wfd.2_Missense_Mutation_p.G137E|NSFL1C_uc002wfe.2_Missense_Mutation_p.G217E|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Missense_Mutation_p.G14E NM_016143 NP_057227 Q9UNZ2 NSF1C_HUMAN p47 protein isoform a 248 chromosome|Golgi stack|nucleus lipid binding|protein binding 0 TTTGAAGGCTCCTTTGGGCTT 0.577 NaN 0 0 0 0.139131 0 146 330 TASP1 55617 broad.mit.edu 37 20 13463978 13463978 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr20:13463978C>G uc002woi.2 - 11 998 c.881G>C c.(880-882)GGA>GCA p.G294A TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Missense_Mutation_p.G271A|TASP1_uc010zrj.1_RNA NM_017714 NP_060184 Q9H6P5 TASP1_HUMAN taspase 1 precursor 294 asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity 0 AAGATGCTCTCCACATCCTAG 0.433 NaN 0 0 0 0.139131 0 59 154 SLC32A1 140679 broad.mit.edu 37 20 37353313 37353313 + Translation_Start_Site SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr20:37353313C>G uc002xjc.2 + 1 209 c.-54C>G c.(-56--52)ATCGC>ATGGC NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CTTCTTGCATCGCGTTCCCCG 0.692 NaN 0 0 0 0.038147 0 8 57 NCOA5 57727 broad.mit.edu 37 20 44699006 44699006 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr20:44699006G>A uc002xrd.2 - 2 736 c.208C>T c.(208-210)CGG>TGG p.R70W NCOA5_uc002xrc.2_5'UTR|NCOA5_uc002xre.2_Missense_Mutation_p.R70W NM_020967 NP_066018 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 70 Arg/Asp-rich (mixed charge).|Transcription repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) CTGTGATCCCGCAAATCTCTA 0.562 NaN 0 0 0 0.021553 0 6 330 CDH22 64405 broad.mit.edu 37 20 44841804 44841804 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr20:44841804C>G uc002xrm.2 - 5 1263 c.862G>C c.(862-864)GAG>CAG p.E288Q CDH22_uc010ghk.1_Missense_Mutation_p.E288Q|CDH22_uc002xrn.1_Missense_Mutation_p.E39Q NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 288 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) GGGGCTGACTCCTGGATGCTG 0.597 NaN 0 0 0 0.139131 0 52 67 KCNG1 3755 broad.mit.edu 37 20 49626376 49626376 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr20:49626376C>T uc002xwa.3 - 2 795 c.500G>A c.(499-501)CGC>CAC p.R167H KCNG1_uc002xwb.2_Missense_Mutation_p.R167H NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, 167 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 CAGGTAGCGGCGCTTGCAGCA 0.687 NaN 0 0 0 0.134883 0 28 150 BCAS1 8537 broad.mit.edu 37 20 52645197 52645197 + Missense_Mutation SNP T T A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr20:52645197T>A uc002xws.2 - 4 795 c.457A>T c.(457-459)ACC>TCC p.T153S BCAS1_uc010zzb.1_Missense_Mutation_p.T56S|BCAS1_uc010gim.2_Missense_Mutation_p.T56S|BCAS1_uc002xwt.2_Missense_Mutation_p.T153S|BCAS1_uc010gil.1_Missense_Mutation_p.T153S|BCAS1_uc010zzc.1_Missense_Mutation_p.T56S NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 153 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) TGCCCTGGGGTTTTATCTGTG 0.612 NaN 0 0 0 0.139131 0 104 121 ADAMTS1 9510 broad.mit.edu 37 21 28214229 28214229 + Silent SNP G G A rs141975781 TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr21:28214229G>A uc002ymf.2 - 3 1613 c.1158C>T c.(1156-1158)TCC>TCT p.S386S NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 386 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) CTTCTATGACGGAGCAGCTTC 0.438 NaN 0 0 0 0.069456 0 38 84 TFF2 7032 broad.mit.edu 37 21 43767668 43767668 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr21:43767668G>A uc002zaw.2 - 3 445 c.303C>T c.(301-303)TGC>TGT p.C101C NM_005423 NP_005414 Q03403 TFF2_HUMAN trefoil factor 2 precursor 101 P-type 2. digestion extracellular region pancreas(1) 1 TCCGAGAGGCGCATTCCTCGG 0.577 NaN 0 0 0 0.058154 0 10 51 MYO18B 84700 broad.mit.edu 37 22 26286747 26286747 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr22:26286747G>A uc003abz.1 + 26 4589 c.4339G>A c.(4339-4341)GCC>ACC p.A1447T MYO18B_uc003aca.1_Missense_Mutation_p.A1328T|MYO18B_uc010guy.1_Missense_Mutation_p.A1329T|MYO18B_uc010guz.1_Missense_Mutation_p.A1328T|MYO18B_uc011aka.1_Missense_Mutation_p.A601T|MYO18B_uc011akb.1_Missense_Mutation_p.A960T NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1447 Potential.|Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CTCTGACCTTGCCGATGAGCG 0.592 NaN 0 0 0 0.139131 0 65 24 SF3A1 10291 broad.mit.edu 37 22 30748978 30748978 + Silent SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr22:30748978G>C uc003ahl.2 - 2 279 c.147C>G c.(145-147)GTC>GTG p.V49V NM_005877 NP_005868 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa isoform 1 49 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding ovary(3)|large_intestine(1)|pancreas(1) 5 CAATATTTCTGACCTCTGGAG 0.478 NaN 0 0 0 0.116897 0 29 172 CSNK1E 1454 broad.mit.edu 37 22 38698909 38698909 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr22:38698909C>T uc003avj.2 - 4 554 c.293G>A c.(292-294)CGC>CAC p.R98H CSNK1E_uc003avk.2_Missense_Mutation_p.R98H|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.R98H|CSNK1E_uc003avo.2_Missense_Mutation_p.R98H|CSNK1E_uc003avp.1_Missense_Mutation_p.R98H|CSNK1E_uc003avq.1_Missense_Mutation_p.R98H|LOC400927_uc010gxm.2_RNA NM_152221 NP_689407 P49674 KC1E_HUMAN casein kinase 1 epsilon 98 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1) 3 Melanoma(58;0.045) GCTGAATTTGCGGGAACAGAA 0.612 NaN 0 0 0 0.021553 0 5 205 CELSR1 9620 broad.mit.edu 37 22 46792543 46792543 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr22:46792543G>A uc003bhw.1 - 13 5802 c.5802C>T c.(5800-5802)TGC>TGT p.C1934C CELSR1_uc011arc.1_Silent_p.C255C NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1934 Extracellular (Potential).|EGF-like 6; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GCCCACACTCGCACACGTAGC 0.622 NaN 0 0 0 0.02938 0 7 20 GRM7 2917 broad.mit.edu 37 3 6903515 6903515 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:6903515C>T uc003bqm.2 + 1 714 c.440C>T c.(439-441)CCG>CTG p.P147L GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.P147L|GRM7_uc003bql.2_Missense_Mutation_p.P147L NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 147 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) TTCGTCAAGCCGGAGAAAGTA 0.597 NaN 0 0 0 0.0918 0 23 70 VILL 50853 broad.mit.edu 37 3 38039653 38039653 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:38039653G>A uc003chj.2 + 8 1123 c.837G>A c.(835-837)CAG>CAA p.Q279Q VILL_uc003chk.1_Silent_p.Q279Q|VILL_uc003chl.2_Silent_p.Q279Q|VILL_uc010hgu.2_Silent_p.Q109Q NM_015873 NP_056957 O15195 VILL_HUMAN villin-like protein 279 Gelsolin-like 3. actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) ACCTGCTGCAGGAGGAGGTGA 0.642 NaN 0 0 0 0.069234 0 11 35 SLC6A20 54716 broad.mit.edu 37 3 45811793 45811793 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:45811793C>T uc011bai.1 - 7 1130 c.1006G>A c.(1006-1008)GTG>ATG p.V336M SLC6A20_uc003cow.2_Translation_Start_Site|SLC6A20_uc011baj.1_Missense_Mutation_p.V299M NM_020208 NP_064593 Q9NP91 S6A20_HUMAN solute carrier family 6, member 20 isoform 1 336 Extracellular (Potential). cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) TAGCCCTTCACCTGCTCCAGG 0.517 NaN 0 0 0 0.11911 0 15 61 SMARCC1 6599 broad.mit.edu 37 3 47752241 47752241 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:47752241C>T uc003crq.2 - 9 968 c.850G>A c.(850-852)GAT>AAT p.D284N SMARCC1_uc011bbd.1_Missense_Mutation_p.D175N NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 284 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) ACCTCATAATCCTCCTCATTC 0.343 NaN 0 0 0 0.064281 0 33 89 RNF123 63891 broad.mit.edu 37 3 49757948 49757948 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:49757948G>C uc003cxh.2 + 36 3591 c.3505G>C c.(3505-3507)GAG>CAG p.E1169Q RNF123_uc003cxi.2_RNA|AMIGO3_uc003cxj.2_5'Flank NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 1169 cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) ACCTAGGAGAGAGCAAGCCAC 0.577 NaN 0 0 0 0.11911 0 14 56 CACNA1D 776 broad.mit.edu 37 3 53766966 53766966 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:53766966C>G uc003dgv.3 + 19 2761 c.2598C>G c.(2596-2598)TTC>TTG p.F866L CACNA1D_uc003dgu.3_Missense_Mutation_p.F886L|CACNA1D_uc003dgy.3_Missense_Mutation_p.F866L|CACNA1D_uc003dgw.3_Missense_Mutation_p.F533L|CACNA1D_uc003dgx.1_Missense_Mutation_p.F14L NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 866 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GGAGCGCTTTCTTCATTCTTA 0.527 NaN 0 0 0 0.080422 0 38 37 SLC25A26 115286 broad.mit.edu 37 3 66293723 66293723 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:66293723C>T uc011bfq.1 + 4 1015 c.287C>T c.(286-288)TCT>TTT p.S96F SLC25A26_uc011bfs.1_Missense_Mutation_p.S8F|SLC25A26_uc011bft.1_RNA|SLC25A26_uc011bfr.1_Missense_Mutation_p.S96F|SLC25A26_uc003dmt.2_Missense_Mutation_p.S8F NM_173471 NP_775742 Q70HW3 SAMC_HUMAN solute carrier family 25, member 26 isoform a 96 Solcar 2.|Helical; Name=3; (Potential). integral to membrane|mitochondrial inner membrane|nucleus S-adenosylmethionine transmembrane transporter activity pancreas(1) 1 Lung NSC(201;0.00774) BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648) TTGGCTGCCTCTGCTGGAGAA 0.313 NaN 0 0 0 0.09836 0 37 104 IFT122 55764 broad.mit.edu 37 3 129195257 129195257 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:129195257C>G uc003emm.2 + 10 1122 c.916C>G c.(916-918)CTT>GTT p.L306V IFT122_uc003eml.2_Missense_Mutation_p.L357V|IFT122_uc003emn.2_Missense_Mutation_p.L247V|IFT122_uc003emo.2_Missense_Mutation_p.L195V|IFT122_uc003emp.2_Missense_Mutation_p.L156V|IFT122_uc010htc.2_Missense_Mutation_p.L298V|IFT122_uc011bky.1_Missense_Mutation_p.L97V|IFT122_uc003emq.2_Missense_Mutation_p.L146V|IFT122_uc003emr.2_Missense_Mutation_p.L97V|IFT122_uc011bla.1_Missense_Mutation_p.L97V|IFT122_uc011bkx.1_Missense_Mutation_p.L146V|IFT122_uc011bkz.1_RNA NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 306 WD 5. camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 GCAAGTATCTCTTTTCACCAA 0.507 NaN 0 0 0 0.139131 0 72 71 IGSF10 285313 broad.mit.edu 37 3 151163672 151163672 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:151163672G>C uc011bod.1 - 4 4097 c.4097C>G c.(4096-4098)TCT>TGT p.S1366C NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1366 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGTGAAGCCAGAACTCTGGTC 0.478 NaN 0 0 0 0.139131 0 62 221 NMD3 51068 broad.mit.edu 37 3 160942825 160942825 + Nonsense_Mutation SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:160942825C>A uc003feb.1 + 3 271 c.152C>A c.(151-153)TCG>TAG p.S51* NMD3_uc003fec.2_Nonsense_Mutation_p.S51*|NMD3_uc003fed.1_Nonsense_Mutation_p.S51* NM_015938 NP_057022 Q96D46 NMD3_HUMAN NMD3 homolog 51 protein transport cytoplasm|nucleolus|nucleoplasm ovary(1) 1 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) AAACAAGTCTCGATTTCGTTC 0.413 NaN 1 0 7.50695e-29 0.139131 8.25488e-29 55 128 PPP1R2 5504 broad.mit.edu 37 3 195245954 195245954 + Missense_Mutation SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:195245954C>A uc003fup.2 - 5 808 c.432G>T c.(430-432)AGG>AGT p.R144S NM_006241 NP_006232 P41236 IPP2_HUMAN protein phosphatase 1, regulatory subunit 2 144 glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity urinary_tract(1) 1 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;9.55e-05) AGTGAAGCTTCCTTTTCATTT 0.284 NaN 1 0 1.22102e-19 0.139131 1.32797e-19 51 59 RPL35A 6165 broad.mit.edu 37 3 197678160 197678160 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:197678160G>A uc003fyr.2 + 3 215 c.142G>A c.(142-144)GCT>ACT p.A48T IQCG_uc003fyp.2_Intron|IQCG_uc003fyo.2_5'Flank|IQCG_uc003fyq.3_5'Flank|RPL35A_uc003fys.2_Missense_Mutation_p.A48T NM_000996 NP_000987 P18077 RL35A_HUMAN ribosomal protein L35a 48 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome|tRNA binding 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;1.04e-23)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.182) CAAGAGATGCGCTTATGTATA 0.358 NaN 0 0 0 0.050027 0 29 85 PDE6B 5158 broad.mit.edu 37 4 656971 656971 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:656971G>A uc003gap.2 + 15 1968 c.1915G>A c.(1915-1917)GAG>AAG p.E639K PDE6B_uc003gao.3_Missense_Mutation_p.E639K|PDE6B_uc011buy.1_Missense_Mutation_p.E360K|PDE6B_uc011buz.1_Missense_Mutation_p.E71K NM_000283 NP_000274 P35913 PDE6B_HUMAN phosphodiesterase 6B isoform 1 639 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding 0 CCTGCTCTCGGAGGAGGTTGG 0.622 NaN 0 0 0 0.074837 0 35 74 TACC3 10460 broad.mit.edu 37 4 1733001 1733001 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:1733001G>C uc003gdo.2 + 6 1672 c.1564G>C c.(1564-1566)GAG>CAG p.E522Q TACC3_uc010ibz.2_Missense_Mutation_p.E522Q|TACC3_uc003gdp.2_Missense_Mutation_p.E162Q|TACC3_uc010ica.2_5'UTR NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing 522 centrosome ovary(1)|central_nervous_system(1) 2 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) GGAGCTGAAAGAGGAGAGCTT 0.627 NaN 0 0 0 0.139131 0 58 115 LETM1 3954 broad.mit.edu 37 4 1843344 1843344 + Nonsense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:1843344C>T uc003gdv.2 - 3 621 c.324G>A c.(322-324)TGG>TGA p.W108* LETM1_uc010icc.2_5'Flank|LETM1_uc011bvg.1_Nonsense_Mutation_p.W108* NM_012318 NP_036450 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane 108 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding central_nervous_system(1) 1 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) GCGAAGAGTGCCAGCCACGCA 0.587 NaN 0 0 0 0.009096 0 4 122 LDB2 9079 broad.mit.edu 37 4 16900009 16900009 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:16900009C>T uc003goz.2 - 1 416 c.100G>A c.(100-102)GAG>AAG p.E34K LDB2_uc003gpa.2_Missense_Mutation_p.E34K|LDB2_uc003gpb.2_Missense_Mutation_p.E34K|LDB2_uc011bxh.1_Missense_Mutation_p.E34K|LDB2_uc010iee.2_Missense_Mutation_p.E34K NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 34 LIM domain binding|transcription cofactor activity 0 TTGTTCATCTCATAGATTCGG 0.453 NaN 0 0 0 0.139131 0 68 76 SOD3 6649 broad.mit.edu 37 4 24801248 24801248 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:24801248C>T uc003gqz.2 + 2 310 c.105C>T c.(103-105)ATC>ATT p.I35I SOD3_uc003gqy.1_RNA NM_003102 NP_003093 P08294 SODE_HUMAN superoxide dismutase 3, extracellular precursor 35 removal of superoxide radicals extracellular space|nucleus|soluble fraction copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding 0 Breast(46;0.0503) CGGAGTGGATCCGAGACATGT 0.697 NaN 0 0 0 0.115264 0 3 9 PDGFRA 5156 broad.mit.edu 37 4 55139810 55139810 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:55139810G>A uc003han.3 + 10 1802 c.1471G>A c.(1471-1473)GCC>ACC p.A491T PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.A385T|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 491 Ig-like C2-type 5.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TGTGACTTTCGCCAAAGTGGA 0.532 NaN Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 0 0 0 0.0918 0 26 131 AASDH 132949 broad.mit.edu 37 4 57250456 57250456 + Nonsense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:57250456G>A uc003hbn.2 - 2 163 c.10C>T c.(10-12)CAG>TAG p.Q4* AASDH_uc010ihb.2_5'Flank|AASDH_uc011caa.1_5'UTR|AASDH_uc003hbo.2_Intron|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Nonsense_Mutation_p.Q4*|AASDH_uc003hbp.2_Nonsense_Mutation_p.Q4*|AASDH_uc003hbq.1_Nonsense_Mutation_p.Q4* NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 4 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) ACCAATTCCTGAAGAGTCATT 0.418 NaN 0 0 0 0.080422 0 39 76 ALB 213 broad.mit.edu 37 4 74285275 74285275 + Silent SNP G G A rs11538206 TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:74285275G>A uc003hgs.3 + 13 1777 c.1704G>A c.(1702-1704)CTG>CTA p.L568L ALB_uc003hgw.3_Silent_p.L376L|ALB_uc011cbe.1_Silent_p.L247L|ALB_uc003hgt.3_Silent_p.L568L|ALB_uc010iii.2_Silent_p.L453L|ALB_uc003hgu.3_Silent_p.L418L|ALB_uc003hgv.3_Silent_p.L247L|ALB_uc011cbf.1_Silent_p.L458L|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Silent_p.L247L NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 568 Albumin 3. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) AAGAGCAACTGAAAGCTGTTA 0.413 NaN 0 0 0 0.099896 0 28 104 G3BP2 9908 broad.mit.edu 37 4 76570708 76570708 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:76570708C>G uc003hir.2 - 12 1520 c.1355G>C c.(1354-1356)AGA>ACA p.R452T G3BP2_uc003his.2_Missense_Mutation_p.R452T|G3BP2_uc003hit.2_Missense_Mutation_p.R419T NM_012297 NP_036429 Q9UN86 G3BP2_HUMAN Ras-GTPase activating protein SH3 domain-binding 452 Gly-rich. cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(2)|central_nervous_system(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGGAGGTCCTCTTCCATCACG 0.582 NaN 0 0 0 0.069288 0 23 109 PPEF2 5470 broad.mit.edu 37 4 76781888 76781888 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:76781888C>T uc003hix.2 - 17 2551 c.2194G>A c.(2194-2196)GAT>AAT p.D732N PPEF2_uc003hiy.2_RNA NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 732 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TCTGAGGCATCGCCCTCTGGG 0.512 NaN 0 0 0 0.069288 0 22 64 PTPN13 5783 broad.mit.edu 37 4 87735669 87735669 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:87735669G>C uc003hpz.2 + 48 7903 c.7423G>C c.(7423-7425)GAA>CAA p.E2475Q PTPN13_uc003hpy.2_Missense_Mutation_p.E2480Q|PTPN13_uc003hqa.2_Missense_Mutation_p.E2456Q|PTPN13_uc003hqb.2_Missense_Mutation_p.E2284Q NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 2475 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TCAAGCAGAAGAAGAGCAAAA 0.408 NaN 0 0 0 0.132662 0 14 29 PPM1K 152926 broad.mit.edu 37 4 89199513 89199513 + Missense_Mutation SNP T T C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:89199513T>C uc003hrm.3 - 2 613 c.223A>G c.(223-225)ATT>GTT p.I75V PPM1K_uc010ikp.1_Missense_Mutation_p.I75V|PPM1K_uc003hrn.2_Missense_Mutation_p.I75V NM_152542 NP_689755 Q8N3J5 PPM1K_HUMAN protein phosphatase 1K (PP2C domain containing) 75 protein dephosphorylation mitochondrial matrix|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000192) GGCAGCAGAATTGGCTCATCA 0.498 NaN 0 0 0 0.125774 0 31 35 CENPE 1062 broad.mit.edu 37 4 104103931 104103931 + Silent SNP A A C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:104103931A>C uc003hxb.1 - 11 1041 c.951T>G c.(949-951)CTT>CTG p.L317L CENPE_uc003hxc.1_Silent_p.L317L NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 317 Kinesin-motor. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) GGAGAGCAGTAAGTGTTTCAT 0.353 NaN 0 0 0 0.116897 0 28 141 ARSJ 79642 broad.mit.edu 37 4 114899684 114899684 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:114899684G>C uc003ibq.1 - 1 1195 c.307C>G c.(307-309)CTT>GTT p.L103V ARSJ_uc010imu.1_Missense_Mutation_p.L103V|ARSJ_uc010imv.1_5'UTR NM_024590 NP_078866 Q5FYB0 ARSJ_HUMAN arylsulfatase J precursor 103 extracellular region arylsulfatase activity|metal ion binding ovary(1) 1 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) AGCTTGTCAAGAGTAGGTGTT 0.458 NaN 0 0 0 0.124865 0 48 79 PRSS12 8492 broad.mit.edu 37 4 119203155 119203155 + Missense_Mutation SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:119203155G>T uc003ica.1 - 13 2611 c.2564C>A c.(2563-2565)TCT>TAT p.S855Y NM_003619 NP_003610 P56730 NETR_HUMAN neurotrypsin precursor 855 Peptidase S1. membrane scavenger receptor activity skin(1) 1 AACACCAGGAGAATCCTTGAC 0.488 NaN 1 0 2.98393e-07 0.076483 3.0983e-07 22 91 LRBA 987 broad.mit.edu 37 4 151771938 151771938 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:151771938C>T uc010ipj.2 - 24 4416 c.3942G>A c.(3940-3942)ATG>ATA p.M1314I LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Missense_Mutation_p.M1314I NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1314 WD 1. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) AACGTTGATGCATCTGAGACC 0.393 NaN 0 0 0 0.146539 0 17 90 TLR2 7097 broad.mit.edu 37 4 154625550 154625550 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:154625550C>G uc003inq.2 + 3 1710 c.1491C>G c.(1489-1491)CTC>CTG p.L497L TLR2_uc003inr.2_Silent_p.L497L|TLR2_uc003ins.2_Silent_p.L497L NM_003264 NP_003255 O60603 TLR2_HUMAN toll-like receptor 2 precursor 497 LRR 13.|Extracellular (Potential). cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding ovary(1)|lung(1)|breast(1) 3 all_hematologic(180;0.093) Renal(120;0.117) ATGCCTCCCTCTTACCCATGT 0.358 NaN 0 0 0 0.083992 0 22 112 GRIA2 2891 broad.mit.edu 37 4 158142864 158142864 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:158142864G>A uc003ipm.3 + 2 593 c.134G>A c.(133-135)CGA>CAA p.R45Q GRIA2_uc011cit.1_5'UTR|GRIA2_uc003ipl.3_Missense_Mutation_p.R45Q|GRIA2_uc003ipk.3_5'UTR|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 45 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AGTGCATTTCGAGTAGGGATG 0.507 NaN 0 0 0 0.080422 0 36 130 PDLIM3 27295 broad.mit.edu 37 4 186425667 186425667 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:186425667C>G uc003ixw.3 - 7 991 c.867G>C c.(865-867)CAG>CAC p.Q289H PDLIM3_uc003ixx.3_Missense_Mutation_p.Q241H|PDLIM3_uc010isi.2_RNA NM_014476 NP_055291 Q53GG5 PDLI3_HUMAN PDZ and LIM domain protein 3 isoform a 289 sarcomere zinc ion binding ovary(2) 2 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) GCGGCATCCTCTGTGCCCCGC 0.507 NaN 0 0 0 0.0333 0 15 59 MED10 84246 broad.mit.edu 37 5 6378552 6378552 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr5:6378552G>A uc003jdo.2 - 1 88 c.45C>T c.(43-45)TTC>TTT p.F15F NM_032286 NP_115662 Q9BTT4 MED10_HUMAN mediator complex subunit 10 15 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(1) 1 TGTTCTCCACGAACTTCTCCA 0.652 NaN 0 0 0 0.076483 0 23 14 ADAMTS12 81792 broad.mit.edu 37 5 33614349 33614349 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr5:33614349C>T uc003jia.1 - 16 2684 c.2521G>A c.(2521-2523)GGG>AGG p.G841R ADAMTS12_uc010iuq.1_Missense_Mutation_p.G756R NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 841 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TCACCTGTCCCGCAGGTCACA 0.507 NaN HNSCC(64;0.19) 0 0 0 0.146539 0 17 34 HCN1 348980 broad.mit.edu 37 5 45262237 45262237 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr5:45262237G>A uc003jok.2 - 8 2484 c.2459C>T c.(2458-2460)ACG>ATG p.T820M NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 820 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GGGGACCGCCGTCACGGGTTG 0.677 NaN 0 0 0 0.074837 0 36 37 GPR98 84059 broad.mit.edu 37 5 89948215 89948215 + Missense_Mutation SNP T T C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr5:89948215T>C uc003kju.2 + 19 3565 c.3469T>C c.(3469-3471)TTT>CTT p.F1157L GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1157 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTGGCAGCTCTTTCAGAATGA 0.373 NaN 0 0 0 0.125774 0 21 116 PCDHA7 56141 broad.mit.edu 37 5 140215250 140215250 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr5:140215250C>T uc003lhq.2 + 1 1282 c.1282C>T c.(1282-1284)CGG>TGG p.R428W PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R428W NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 428 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTTACCGCGCGGGACGGGGG 0.617 NaN 0 0 0 0.139131 0 43 99 PCDHA13 56136 broad.mit.edu 37 5 140263524 140263524 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr5:140263524C>T uc003lif.2 + 1 1671 c.1671C>T c.(1669-1671)GAC>GAT p.D557D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.D557D|PCDHA13_uc003lid.2_Silent_p.D557D NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 557 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGTGCTGGACGAGAACGACA 0.697 NaN 0 0 0 0.139131 0 67 40 ADRA1B 147 broad.mit.edu 37 5 159344642 159344642 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr5:159344642G>C uc003lxt.1 + 1 903 c.730G>C c.(730-732)GAG>CAG p.E244Q NM_000679 NP_000670 P35368 ADA1B_HUMAN alpha-1B-adrenergic receptor 244 Cytoplasmic (By similarity). cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity lung(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) AGTCATGAAGGAGATGTCCAA 0.527 NaN 0 0 0 0.139131 0 75 23 ZNF354B 117608 broad.mit.edu 37 5 178310385 178310385 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr5:178310385C>T uc003mjl.2 + 5 1158 c.932C>T c.(931-933)TCT>TTT p.S311F ZNF354B_uc003mjm.2_Missense_Mutation_p.S311F NM_058230 NP_478137 Q96LW1 Z354B_HUMAN zinc finger protein 354B 311 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGTCGAAGGTCTGGGCTTTTT 0.418 NaN 0 0 0 0.0333 0 18 34 ZNF184 7738 broad.mit.edu 37 6 27420988 27420988 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr6:27420988G>A uc003njj.2 - 5 1161 c.350C>T c.(349-351)TCT>TTT p.S117F ZNF184_uc010jqv.2_Missense_Mutation_p.S117F|ZNF184_uc003nji.2_Missense_Mutation_p.S117F NM_007149 NP_009080 Q99676 ZN184_HUMAN zinc finger protein 184 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTCTTCTTCAGAAATGTCAGG 0.373 NaN 0 0 0 0.117977 0 44 119 GTPBP2 54676 broad.mit.edu 37 6 43593965 43593965 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr6:43593965C>G uc003ovs.2 - 3 433 c.396G>C c.(394-396)GAG>GAC p.E132D GTPBP2_uc010jyv.2_Missense_Mutation_p.E44D|GTPBP2_uc003ovt.1_Missense_Mutation_p.E132D NM_019096 NP_061969 Q9BX10 GTPB2_HUMAN GTP binding protein 2 132 GTP binding|GTPase activity liver(1)|skin(1) 2 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) AAGCATACTTCTCTGCCATCC 0.592 NaN 0 0 0 0.059317 0 32 107 SLC25A27 9481 broad.mit.edu 37 6 46644165 46644165 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr6:46644165G>C uc003oyh.2 + 9 1197 c.946G>C c.(946-948)GAG>CAG p.E316Q SLC25A27_uc011dwb.1_Intron|SLC25A27_uc003oyg.2_Intron|SLC25A27_uc011dwc.1_Missense_Mutation_p.E230Q|SLC25A27_uc003oyi.2_Missense_Mutation_p.E246Q NM_004277 NP_004268 O95847 UCP4_HUMAN solute carrier family 25, member 27 316 Solcar 3. generation of precursor metabolites and energy|transport integral to membrane|mitochondrial inner membrane 0 Lung(136;0.192) AAAAATCAGAGAGATGAGTGG 0.368 NaN 0 0 0 0.144211 0 29 43 PAQR8 85315 broad.mit.edu 37 6 52268632 52268632 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr6:52268632C>T uc003pao.3 + 2 795 c.621C>T c.(619-621)GTC>GTT p.V207V NM_133367 NP_588608 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member 207 Extracellular (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding 0 Lung NSC(77;0.0875) CTTATCCAGTCATGAGGAAGA 0.547 NaN 0 0 0 0.139131 0 48 51 BCLAF1 9774 broad.mit.edu 37 6 136599241 136599241 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr6:136599241G>C uc003qgx.1 - 4 1031 c.778C>G c.(778-780)CAG>GAG p.Q260E BCLAF1_uc003qgw.1_Missense_Mutation_p.Q260E|BCLAF1_uc003qgy.1_Missense_Mutation_p.Q258E|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.Q258E NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 260 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TGTGAATGCTGAGAAGGAGTA 0.443 NaN 0 0 0 0.058154 0 10 71 WTAP 9589 broad.mit.edu 37 6 160174506 160174506 + Missense_Mutation SNP A A G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr6:160174506A>G uc003qsl.2 + 7 689 c.467A>G c.(466-468)AAG>AGG p.K156R WTAP_uc003qso.2_Missense_Mutation_p.K37R NM_004906 NP_004897 Q15007 FL2D_HUMAN Wilms' tumour 1-associating protein isoform 1 156 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) ACAGGGAAAAAGTTAATGGCG 0.423 NaN 0 0 0 0.02938 0 7 65 TNRC18 84629 broad.mit.edu 37 7 5352441 5352441 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:5352441G>A uc003soi.3 - 27 8430 c.8081C>T c.(8080-8082)TCC>TTC p.S2694F NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 2694 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CGCCTGCGCGGAAGGGCCAGC 0.622 NaN 0 0 0 0.014758 0 5 13 EPDR1 54749 broad.mit.edu 37 7 37960368 37960368 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:37960368C>T uc003tfp.2 + 1 206 c.187C>T c.(187-189)CGC>TGC p.R63C EPDR1_uc003tfq.2_Missense_Mutation_p.R63C|EPDR1_uc010kxh.2_5'Flank NM_017549 NP_060019 Q9UM22 EPDR1_HUMAN ependymin related protein 1 precursor Error:Variant_position_missing_in_Q9UM22_after_alignment cell-matrix adhesion extracellular region calcium ion binding upper_aerodigestive_tract(1) 1 TACCGGGACTCGCGCGTCCGG 0.672 NaN 0 0 0 0.080422 0 29 13 ZMIZ2 83637 broad.mit.edu 37 7 44796036 44796036 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:44796036C>T uc003tlr.2 + 3 186 c.63C>T c.(61-63)TTC>TTT p.F21F ZMIZ2_uc003tlq.2_Silent_p.F21F|ZMIZ2_uc003tls.2_Silent_p.F21F NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 isoform 1 21 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding ovary(2)|large_intestine(2)|breast(1) 5 ATGGTTCATTCGCATATGAGT 0.577 NaN 0 0 0 0.139131 0 80 46 HIP1 3092 broad.mit.edu 37 7 75203167 75203167 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:75203167G>C uc003uds.1 - 8 685 c.644C>G c.(643-645)ACG>AGG p.T215R HIP1_uc011kfz.1_Missense_Mutation_p.T92R NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 215 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 CCCTGCTGCCGTCACGGACAC 0.547 NaN T PDGFRB CMML 0 0 0 0.021553 0 6 97 SEMA3C 10512 broad.mit.edu 37 7 80374329 80374329 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:80374329G>A uc003uhj.2 - 18 2699 c.2137C>T c.(2137-2139)CGG>TGG p.R713W SEMA3C_uc011kgw.1_Missense_Mutation_p.R731W NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 713 immune response|response to drug membrane receptor activity ovary(1) 1 TGTTGCTGCCGAGTGTCTTTG 0.483 NaN 0 0 0 0.080422 0 39 161 CDK6 1021 broad.mit.edu 37 7 92462586 92462586 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:92462586C>T uc011khw.1 - 2 464 c.52G>A c.(52-54)GAG>AAG p.E18K CDK6_uc010lez.2_Missense_Mutation_p.E18K NM_001259 NP_001250 Q00534 CDK6_HUMAN cyclin-dependent kinase 6 18 Protein kinase. cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle ATP binding|cyclin binding|cyclin-dependent protein kinase activity central_nervous_system(1)|skin(1) 2 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TCCCCGATCTCCGCCACGCAT 0.537 NaN T MLLT10 ALL 0 0 0 0.0333 0 16 13 SAMD9 54809 broad.mit.edu 37 7 92732940 92732940 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:92732940C>G uc003umf.2 - 3 2727 c.2471G>C c.(2470-2472)CGA>CCA p.R824P SAMD9_uc003umg.2_Missense_Mutation_p.R824P NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 824 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TTTTTCATATCGAATGTACTT 0.358 NaN 0 0 0 0.083992 0 26 119 SLC26A3 1811 broad.mit.edu 37 7 107423661 107423661 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:107423661C>G uc003ver.2 - 9 1319 c.1108G>C c.(1108-1110)GAT>CAT p.D370H SLC26A3_uc003ves.2_Missense_Mutation_p.D335H NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 370 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 TGATTGCCATCAAGTGGATAA 0.423 NaN 0 0 0 0.139131 0 68 77 DOCK4 9732 broad.mit.edu 37 7 111508111 111508111 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:111508111C>T uc003vfx.2 - 22 2478 c.2209G>A c.(2209-2211)GAG>AAG p.E737K DOCK4_uc003vfw.2_Missense_Mutation_p.E178K|DOCK4_uc003vfy.2_Missense_Mutation_p.E737K|DOCK4_uc003vga.1_Missense_Mutation_p.E342K NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 737 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) ATGAGAAGCTCCTGAATGCAG 0.433 NaN 0 0 0 0.058154 0 9 42 TPK1 27010 broad.mit.edu 37 7 144245674 144245674 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:144245674C>T uc003weq.2 - 8 626 c.523G>A c.(523-525)GAC>AAC p.D175N TPK1_uc003weo.2_Missense_Mutation_p.D121N|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.D126N|TPK1_uc003wes.2_RNA NM_022445 NP_071890 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 isoform a 175 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity ovary(2) 2 Thiamine(DB00152) ATTCCAGTGTCTACATGCAAC 0.473 NaN 0 0 0 0.050027 0 33 148 INTS9 55756 broad.mit.edu 37 8 28633422 28633422 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr8:28633422C>T uc003xha.2 - 14 1716 c.1417G>A c.(1417-1419)GAG>AAG p.E473K INTS9_uc011lav.1_Missense_Mutation_p.E449K|INTS9_uc011law.1_Missense_Mutation_p.E452K|INTS9_uc011lax.1_Missense_Mutation_p.E366K|INTS9_uc010lvc.2_RNA NM_018250 NP_060720 Q9NV88 INT9_HUMAN integrator complex subunit 9 isoform 1 473 snRNA processing integrator complex protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) GTGTACTGCTCAGGACACACC 0.622 NaN 0 0 0 0.0918 0 24 56 VPS13B 157680 broad.mit.edu 37 8 100833675 100833675 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr8:100833675G>C uc003yiv.2 + 50 9334 c.9223G>C c.(9223-9225)GAA>CAA p.E3075Q VPS13B_uc003yiw.2_Missense_Mutation_p.E3050Q NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3075 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGTTGATACTGAAATAAGACT 0.418 NaN 0 0 0 0.076483 0 22 146 UBR5 51366 broad.mit.edu 37 8 103335546 103335546 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr8:103335546C>T uc003ykr.1 - 14 1810 c.1777G>A c.(1777-1779)GAA>AAA p.E593K UBR5_uc003yks.1_Missense_Mutation_p.E593K NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 593 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TACTTAGCTTCAGTAGTTTTG 0.368 NaN 0 0 0 0.047766 0 7 54 TG 7038 broad.mit.edu 37 8 133906095 133906095 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr8:133906095G>A uc003ytw.2 + 11 2963 c.2922G>A c.(2920-2922)CCG>CCA p.P974P NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 974 Thyroglobulin type-1 8. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GCCTTCCTCCGCTCTTCCCGC 0.602 NaN 0 0 0 0.144211 0 31 168 VLDLR 7436 broad.mit.edu 37 9 2652927 2652927 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:2652927C>G uc003zhk.1 + 18 2961 c.2564C>G c.(2563-2565)TCT>TGT p.S855C VLDLR_uc003zhl.1_Missense_Mutation_p.S827C|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.S786C NM_003383 NP_003374 P98155 VLDLR_HUMAN very low density lipoprotein receptor isoform a 855 Cytoplasmic (Potential). cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) CACAGTGCTTCTGTTGGACAC 0.448 NaN 0 0 0 0.139131 0 72 81 C9orf102 375748 broad.mit.edu 37 9 98690414 98690414 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:98690414C>G uc004avt.3 + 10 2008 c.1620C>G c.(1618-1620)CTC>CTG p.L540L C9orf102_uc010mrx.1_Intron|C9orf102_uc011lum.1_Silent_p.L242L|C9orf102_uc010mry.1_Silent_p.L242L|C9orf102_uc010mrz.2_Silent_p.L351L|C9orf102_uc004avu.2_Intron NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 540 Helicase C-terminal. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) aagttcttctcttttcttttt 0 NaN 0 0 0 0.0918 0 25 42 CORO2A 7464 broad.mit.edu 37 9 100888882 100888882 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:100888882C>G uc004ayl.2 - 11 1661 c.1395G>C c.(1393-1395)CTG>CTC p.L465L CORO2A_uc004aym.2_Silent_p.L465L|CORO2A_uc004ayk.2_Silent_p.L112L NM_003389 NP_003380 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 465 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding skin(2)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(62;0.0559) AGCCATTTGTCAGCCAGGTTT 0.567 NaN 0 0 0 0.139131 0 64 152 SVEP1 79987 broad.mit.edu 37 9 113213596 113213596 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:113213596G>A uc010mtz.2 - 23 4211 c.3874C>T c.(3874-3876)CGT>TGT p.R1292C SVEP1_uc010mua.1_Missense_Mutation_p.R1292C NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1292 EGF-like 3; calcium-binding (Potential). cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CATGTGCAACGATAGCCAGCC 0.373 NaN 0 0 0 0.134883 0 30 14 NUP188 23511 broad.mit.edu 37 9 131721315 131721315 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:131721315G>C uc004bws.1 + 8 509 c.487G>C c.(487-489)GAT>CAT p.D163H NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 163 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 AGACTGTGTTGATAAATTGGA 0.284 NaN 0 0 0 0.116897 0 29 45 FNBP1 23048 broad.mit.edu 37 9 132658259 132658259 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:132658259C>T uc004byw.1 - 16 1923 c.1704G>A c.(1702-1704)ACG>ACA p.T568T FNBP1_uc011mbv.1_Silent_p.T558T|FNBP1_uc011mbw.1_Silent_p.T563T|FNBP1_uc004bza.2_Silent_p.T502T|FNBP1_uc004byz.1_Silent_p.T539T|FNBP1_uc004byv.1_5'Flank|FNBP1_uc011mbu.1_Silent_p.T196T|FNBP1_uc004byx.1_Silent_p.T484T|FNBP1_uc004byy.1_Silent_p.T474T NM_015033 NP_055848 Q96RU3 FNBP1_HUMAN formin binding protein 1 568 Required for self-association and induction of membrane tubulation.|Interaction with FASLG.|SH3.|Interaction with PDE6G (By similarity).|Interaction with DNM1 and DNM3.|Required for interaction with TNKS.|Interaction with DNM2 and WASL.|Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding 0 Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) CTACGGAAATCGTTCCTTCAT 0.443 NaN T MLL AML 0 0 0 0.0918 0 22 49 DDX31 64794 broad.mit.edu 37 9 135545428 135545428 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:135545428G>A uc004cbq.1 - 1 361 c.209C>T c.(208-210)CCC>CTC p.P70L DDX31_uc010mzu.1_Missense_Mutation_p.P70L|DDX31_uc004cbr.1_Missense_Mutation_p.P70L|DDX31_uc004cbs.1_Missense_Mutation_p.P70L|GTF3C4_uc010mzv.2_5'Flank|GTF3C4_uc010mzw.2_5'Flank NM_022779 NP_073616 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 70 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) GCCCCTTCCGGGTCCGGAACG 0.761 NaN 0 0 0 0.115264 0 2 1 RXRA 6256 broad.mit.edu 37 9 137300844 137300844 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:137300844G>A uc004cfb.2 + 4 651 c.489G>A c.(487-489)GTG>GTA p.V163V RXRA_uc004cfc.1_Silent_p.V66V NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 163 Nuclear receptor. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) AGCGGACGGTGCGCAAGGACC 0.642 NaN 0 0 0 0.139131 0 64 32 NOTCH1 4851 broad.mit.edu 37 9 139391498 139391498 + Silent SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:139391498G>C uc004chz.2 - 34 6693 c.6693C>G c.(6691-6693)CTC>CTG p.L2231L NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 2231 Cytoplasmic (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCAGGTGGTTGAGGGGCACGG 0.721 NaN T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 0 0 0 0.11911 0 12 16 ENTPD2 954 broad.mit.edu 37 9 139945421 139945421 + Missense_Mutation SNP T T C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:139945421T>C uc004ckw.1 - 5 763 c.707A>G c.(706-708)TAC>TGC p.Y236C ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Missense_Mutation_p.Y236C NM_203468 NP_982293 Q9Y5L3 ENTP2_HUMAN ectonucleoside triphosphate diphosphohydrolase 2 236 Extracellular (Potential). integral to membrane ATP binding 0 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GCTGTGGGTGTAGACTCGGTA 0.632 NaN 0 0 0 0.105934 0 6 23 KAL1 3730 broad.mit.edu 37 X 8507728 8507728 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:8507728C>T uc004csf.2 - 10 1576 c.1426G>A c.(1426-1428)GAG>AAG p.E476K NM_000216 NP_000207 P23352 KALM_HUMAN Kallmann syndrome 1 protein precursor 476 Fibronectin type-III 3. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity ovary(3)|pancreas(1) 4 GATGATGCCTCTGATCCGGTT 0.453 NaN 0 0 0 0.139131 0 48 259 DMD 1756 broad.mit.edu 37 X 31645811 31645811 + Missense_Mutation SNP T T G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:31645811T>G uc004dda.1 - 55 8440 c.8196A>C c.(8194-8196)AAA>AAC p.K2732N DMD_uc004dcr.1_Missense_Mutation_p.K272N|DMD_uc004dcs.1_Missense_Mutation_p.K272N|DMD_uc004dct.1_Missense_Mutation_p.K272N|DMD_uc004dcu.1_Missense_Mutation_p.K272N|DMD_uc004dcv.1_Missense_Mutation_p.K272N|DMD_uc004dcw.2_Missense_Mutation_p.K1388N|DMD_uc004dcx.2_Missense_Mutation_p.K1391N|DMD_uc004dcz.2_Missense_Mutation_p.K2609N|DMD_uc004dcy.1_Missense_Mutation_p.K2728N|DMD_uc004ddb.1_Missense_Mutation_p.K2724N NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2732 Spectrin 19. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCATCAGCTCTTTTACTCCCT 0.433 NaN 0 0 0 0.049695 0 15 90 EFHC2 80258 broad.mit.edu 37 X 44108098 44108098 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:44108098C>T uc004dgb.3 - 7 1013 c.923G>A c.(922-924)GGT>GAT p.G308D NM_025184 NP_079460 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 308 DM10 2. calcium ion binding breast(3)|ovary(2)|central_nervous_system(1) 6 TATAAAGTCACCATATGAATT 0.378 NaN 0 0 0 0.092188 0 38 45 KDM6A 7403 broad.mit.edu 37 X 44938512 44938512 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:44938512C>T uc004dge.3 + 20 3435 c.3060C>T c.(3058-3060)ATC>ATT p.I1020I KDM6A_uc010nhk.2_Silent_p.I986I|KDM6A_uc011mkz.1_Silent_p.I1072I|KDM6A_uc011mla.1_Silent_p.I975I|KDM6A_uc011mlb.1_Silent_p.I1027I|KDM6A_uc011mlc.1_Silent_p.I724I|KDM6A_uc011mld.1_Silent_p.I659I NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 1020 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 CAAAGAAAATCTGGCATTGTG 0.403 NaN D|N|F|S renal|oesophageal SCC|MM 0 0 0 0.139131 0 48 100 HUWE1 10075 broad.mit.edu 37 X 53603879 53603879 + Silent SNP T T C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:53603879T>C uc004dsp.2 - 44 6267 c.5865A>G c.(5863-5865)GCA>GCG p.A1955A HUWE1_uc004dsn.2_Silent_p.A780A NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 1955 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GAGCATGGTATGCAGCCAGAG 0.383 NaN 0 0 0 0.139131 0 45 68 FAM120C 54954 broad.mit.edu 37 X 54143003 54143003 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:54143003G>C uc004dsz.3 - 10 2370 c.2287C>G c.(2287-2289)CTG>GTG p.L763V FAM120C_uc011moh.1_Missense_Mutation_p.L763V NM_017848 NP_060318 Q9NX05 F120C_HUMAN hypothetical protein LOC54954 763 ovary(1)|central_nervous_system(1) 2 ATGAGCAGCAGATGGGTGGGG 0.478 NaN 0 0 0 0.146539 0 14 83 STARD8 9754 broad.mit.edu 37 X 67940785 67940785 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:67940785C>T uc004dxa.2 + 8 2201 c.1829C>T c.(1828-1830)TCT>TTT p.S610F STARD8_uc004dxb.2_Missense_Mutation_p.S690F|STARD8_uc004dxc.3_Missense_Mutation_p.S610F NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 610 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 TTCCGCAAGTCTGGGGTCAAG 0.572 NaN 0 0 0 0.069456 0 36 39 MED12 9968 broad.mit.edu 37 X 70345221 70345221 + Missense_Mutation SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:70345221G>T uc004dyy.2 + 16 2446 c.2247G>T c.(2245-2247)GAG>GAT p.E749D MED12_uc011mpq.1_Missense_Mutation_p.E749D|MED12_uc004dyz.2_Missense_Mutation_p.E749D|MED12_uc004dza.2_Missense_Mutation_p.E596D NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 749 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) GCAGCCATGAGTGCAACCAGC 0.542 NaN 1 0 3.76525e-18 0.139131 4.08016e-18 46 26 TAF1 6872 broad.mit.edu 37 X 70608124 70608124 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:70608124G>A uc004dzu.3 + 16 2513 c.2462G>A c.(2461-2463)CGG>CAG p.R821Q BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R842Q|TAF1_uc004dzv.3_5'UTR NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 821 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) AGTAAAGATCGGCCACGGAGG 0.433 NaN 0 0 0 0.139131 0 104 82 GPR174 84636 broad.mit.edu 37 X 78427144 78427144 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:78427144G>A uc004edg.1 + 1 676 c.640G>A c.(640-642)GAT>AAT p.D214N NM_032553 NP_115942 Q9BXC1 GP174_HUMAN putative purinergic receptor FKSG79 214 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1)|central_nervous_system(1) 2 ATCACTGCAAGATAAATATCC 0.428 NaN HNSCC(63;0.18) 0 0 0 0.059317 0 31 99 DRP2 1821 broad.mit.edu 37 X 100513302 100513302 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:100513302C>T uc004egz.2 + 22 2764 c.2395C>T c.(2395-2397)CTC>TTC p.L799F DRP2_uc011mrh.1_Missense_Mutation_p.L721F NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 799 central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 TGGCAGGATTCTCCAGGGAGA 0.587 NaN 0 0 0 0.02938 0 3 6 HTR2C 3358 broad.mit.edu 37 X 114141690 114141690 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:114141690C>T uc004epu.1 + 6 1817 c.1089C>T c.(1087-1089)ATC>ATT p.I363I HTR2C_uc010nqc.1_Silent_p.I363I|HTR2C_uc004epv.1_3'UTR NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 363 Helical; Name=7; (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) GTTCAGGAATCAATCCTCTGG 0.398 NaN 0 0 0 0.139131 0 139 155 GLUD2 2747 broad.mit.edu 37 X 120183007 120183007 + Missense_Mutation SNP C C T rs141237083 TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:120183007C>T uc004eto.2 + 1 1546 c.1469C>T c.(1468-1470)ACG>ATG p.T490M NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 490 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) ATTGTACCCACGGCAGAGTTC 0.438 NaN 0 0 0 0.139131 0 111 111 UTP14A 10813 broad.mit.edu 37 X 129059059 129059059 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:129059059C>G uc004euz.2 + 12 1665 c.1637C>G c.(1636-1638)CCT>CGT p.P546R UTP14A_uc011mup.1_Missense_Mutation_p.P494R|UTP14A_uc011muq.1_Missense_Mutation_p.P492R NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 546 rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 AATAATCGCCCTGATGCCCCT 0.478 NaN 0 0 0 0.139131 0 165 163 MAGEC1 9947 broad.mit.edu 37 X 140995585 140995585 + Nonsense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:140995585C>T uc004fbt.2 + 4 2681 c.2395C>T c.(2395-2397)CAG>TAG p.Q799* MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 799 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TGAGAGTCCTCAGAGTCCTCC 0.567 NaN HNSCC(15;0.026) 0 0 0 0.139131 0 204 343 SPANXN1 494118 broad.mit.edu 37 X 144337274 144337274 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:144337274G>A uc004fcb.2 + 2 159 c.159G>A c.(157-159)GCG>GCA p.A53A NM_001009614 NP_001009614 Q5VSR9 SPXN1_HUMAN SPANX-N1 protein 53 0 Acute lymphoblastic leukemia(192;6.56e-05) CAGTATTAGCGTTTTGCTACA 0.433 NaN 0 0 0 0.139131 0 88 129 UBL4A 8266 broad.mit.edu 37 X 153713943 153713943 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:153713943G>A uc004flo.2 - 4 418 c.409C>T c.(409-411)CGG>TGG p.R137W NM_014235 NP_055050 P11441 UBL4A_HUMAN ubiquitin-like 4 137 protein modification process|tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex small conjugating protein ligase activity 0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTGGCCAACCGTTCGATGTCG 0.602 NaN 0 0 0 0.139131 0 45 223 KLF5 688 broad.mit.edu 37 13 73636411 73636412 + Frame_Shift_Ins INS - - G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 - G - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr13:73636411_73636412insG uc001vje.2 + 2 998_999 c.674_675insG c.(673-675)CAGfs p.Q225fs KLF5_uc001vjd.2_Frame_Shift_Ins_p.Q134fs NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 225 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) CCTACCCAGCAGGGCCACCTGT 0.455 NaN NaN NaN NaN NaN NaN 27 83 --- --- IRF9 10379 broad.mit.edu 37 14 24633132 24633134 + In_Frame_Del DEL AGC AGC - TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr14:24633132_24633134delAGC uc001wmq.2 + 5 668_670 c.541_543delAGC c.(541-543)AGCdel p.S187del RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_In_Frame_Del_p.S85del NM_006084 NP_006075 Q00978 IRF9_HUMAN interferon-stimulated transcription factor 3, 187 Poly-Ser. interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00853) AGACATTGGGagcagcagcagca 0.448 NaN NaN NaN NaN NaN NaN 8 173 --- --- CRYBA2 1412 broad.mit.edu 37 2 219857870 219857884 + In_Frame_Del DEL GCCGGGCCCGGCGCG GCCGGGCCCGGCGCG - rs141631259 by1000genomes TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:219857870_219857884delGCCGGGCCCGGCGCG uc002vjj.1 - 2 50_64 c.15_29delCGCGCCGGGCCCGGC c.(13-30)CCCGCGCCGGGCCCGGCG>CCG p.APGPA6del CRYBA2_uc002vjk.1_In_Frame_Del_p.APGPA6del NM_057094 NP_476435 P53672 CRBA2_HUMAN crystallin, beta A2 6_10 N-terminal arm. structural constituent of eye lens 0 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTggcgggcgccgggcccggcgcgggggcgcTGC 0.581 NaN NaN NaN NaN NaN NaN 6 11 --- --- AGFG2 3268 broad.mit.edu 37 7 100148019 100148022 + Frame_Shift_Del DEL GTTT GTTT - TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:100148019_100148022delGTTT uc003uvf.2 + 3 452_455 c.316_319delGTTT c.(316-321)GTTTGCfs p.V106fs AGFG2_uc003uvg.1_Frame_Shift_Del_p.V106fs|AGFG2_uc010lgy.2_5'UTR NM_006076 NP_006067 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 106_107 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding central_nervous_system(1) 1 ATTCTTTTAGGTTTGCCGGAAGAT 0.348 NaN NaN NaN NaN NaN NaN 163 137 --- --- FLNC 2318 broad.mit.edu 37 7 128492642 128492651 + Splice_Site DEL CAGGTGATGA CAGGTGATGA - TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:128492642_128492651delCAGGTGATGA uc003vnz.3 + 36 6052 c.5843_splice c.e36-1 p.G1948_splice FLNC_uc003voa.3_Splice_Site_p.G1915_splice NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 ACTCCCCCACCAGGTGATGACTCCATGAGG 0.624 NaN NaN NaN NaN NaN NaN 15 191 --- ---