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 MTOR 2475 broad.mit.edu 37 1 11181417 11181417 + Silent SNP C C A rs138151561 byFrequency TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr1:11181417C>A uc001asd.2 - 49 6940 c.6819G>T c.(6817-6819)CCG>CCT p.P2273P MTOR_uc001asc.2_Silent_p.P478P NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 2273 PI3K/PI4K. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 GGTCATAGTCCGGAGCCATCT 0.522000 MUL1 79594 broad.mit.edu 37 1 20827537 20827537 + Silent SNP C C T rs61753588 TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr1:20827537C>T uc001bdi.3 - 4 862 c.705G>A c.(703-705)TCG>TCA p.S235S NM_024544 NP_078820 Q969V5 MUL1_HUMAN mitochondrial ubiquitin ligase activator of NFKB 235 Mitochondrial intermembrane (Potential). activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to mitochondrial outer membrane|nucleus|peroxisome identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) GCCTGACGCTCGACTCCTGCC 0.582000 DEM1 64789 broad.mit.edu 37 1 40981216 40981216 + Missense_Mutation SNP G G C TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr1:40981216G>C uc001cfp.2 + 3 1205 c.1000G>C c.(1000-1002)GGA>CGA p.G334R DEM1_uc001cfq.2_Missense_Mutation_p.G334R|DEM1_uc001cfr.2_Missense_Mutation_p.G334R|DEM1_uc001cfs.2_Missense_Mutation_p.G334R NM_022774 NP_073611 Q9H790 EXO5_HUMAN defects in morphology 1 homolog 334 DNA binding|exonuclease activity 0 AGAGCCCCAGGGAGTTGACGT 0.562000 ZSWIM5 57643 broad.mit.edu 37 1 45501806 45501806 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr1:45501806C>T uc001cnd.2 - 9 2288 c.2060G>A c.(2059-2061)CGT>CAT p.R687H NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 687 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) CTCCTCATTACGGCATACCTT 0.522000 C1orf190 541468 broad.mit.edu 37 1 46685674 46685674 + Missense_Mutation SNP G G A rs138211805 by1000genomes TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr1:46685674G>A uc010oma.1 + 2 595 c.502G>A c.(502-504)GAG>AAG p.E168K POMGNT1_uc001cpg.2_5'UTR|POMGNT1_uc001cpf.2_5'UTR NM_001013615 NP_001013633 Q96LR2 CA190_HUMAN hypothetical protein LOC541468 168 positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(166;0.155) TCCACGTTCCGAGATGGACTG 0.617000 BCL2L15 440603 broad.mit.edu 37 1 114429946 114429946 + Silent SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr1:114429946G>A uc001edw.2 - 1 224 c.52C>T c.(52-54)CTA>TTA p.L18L uc001edv.1_Intron|BCL2L15_uc001edx.2_Silent_p.L18L|BCL2L15_uc001edy.2_RNA|BCL2L15_uc001edz.1_RNA NM_001010922 NP_001010922 Q5TBC7 B2L15_HUMAN pro-apoptotic Bcl-2 protein 18 apoptosis ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCATGAGTAGAGTGTTCACA 0.448000 FLG 2312 broad.mit.edu 37 1 152286817 152286817 + Missense_Mutation SNP T T G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr1:152286817T>G uc001ezu.1 - 3 581 c.545A>C c.(544-546)AAA>ACA p.K182T uc001ezv.2_Intron NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 182 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTTCTCTTTTTTACTTGAGTT 0.323000 Ichthyosis PVRL4 81607 broad.mit.edu 37 1 161043088 161043088 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr1:161043088G>A uc001fxo.2 - 8 1534 c.1235C>T c.(1234-1236)CCG>CTG p.P412L PVRL4_uc010pjy.1_Intron|PVRL4_uc010pjz.1_Intron NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 412 Cytoplasmic (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) ACTCTCCTCCGGCTGCAGGGC 0.647000 ACTN2 88 broad.mit.edu 37 1 236850010 236850010 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr1:236850010G>A uc001hyf.2 + 1 241 c.37G>A c.(37-39)GTG>ATG p.V13M ACTN2_uc001hyg.2_Translation_Start_Site|ACTN2_uc009xgi.1_Missense_Mutation_p.V13M NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 13 Actin-binding. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GTACAACTACGTGTACGACGA 0.642000 AKR1C4 1109 broad.mit.edu 37 10 5238879 5238879 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr10:5238879C>T uc001ihw.2 + 1 82 c.49C>T c.(49-51)CCC>TCC p.P17S NM_001818 NP_001809 P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 17 NADP (By similarity). androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity ovary(1) 1 NADH(DB00157) TCACTTCATGCCCGTATTGGG 0.428000 UPF2 26019 broad.mit.edu 37 10 11971960 11971960 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr10:11971960C>T uc001ila.2 - 20 4187 c.3713G>A c.(3712-3714)CGC>CAC p.R1238H UPF2_uc001ilb.2_Missense_Mutation_p.R1238H|UPF2_uc001ilc.2_Missense_Mutation_p.R1238H NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 1238 Sufficient for interaction with UPF1 C- terminus.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) TGGAGCTGGGCGCTGTGCAAG 0.458000 TIAL1 7073 broad.mit.edu 37 10 121339500 121339500 + Missense_Mutation SNP T T C TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr10:121339500T>C uc001lei.1 - 6 958 c.394A>G c.(394-396)ATG>GTG p.M132V TIAL1_uc001leh.1_Missense_Mutation_p.M110V|TIAL1_uc001lej.1_Missense_Mutation_p.M149V|TIAL1_uc001lek.1_Missense_Mutation_p.M9V|TIAL1_uc009xzi.1_Missense_Mutation_p.M1V|TIAL1_uc010qtb.1_Missense_Mutation_p.M9V NM_003252 NP_003243 Q01085 TIAR_HUMAN TIA-1 related protein isoform 1 132 RRM 2. apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter lysosome|nucleus|stress granule nucleotide binding|RNA binding ovary(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932) CCAGTTGCCATGTCTTTAACT 0.363000 FGFR2 2263 broad.mit.edu 37 10 123274809 123274809 + Missense_Mutation SNP G G T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr10:123274809G>T uc010qtk.1 - 9 1756 c.1109C>A c.(1108-1110)ACA>AAA p.T370K FGFR2_uc010qtg.1_Missense_Mutation_p.T258K|FGFR2_uc010qth.1_Missense_Mutation_p.T255K|FGFR2_uc010qti.1_Missense_Mutation_p.T281K|FGFR2_uc010qtj.1_Missense_Mutation_p.T371K|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.T255K|FGFR2_uc001lfl.3_Missense_Mutation_p.T371K|FGFR2_uc001lfm.2_Missense_Mutation_p.T282K|FGFR2_uc001lfn.3_RNA|FGFR2_uc001lfg.3_5'UTR NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 370 Extracellular (Potential). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding p.T370R(1) endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TGGGGAAGCTGTAATCTCCTT 0.488000 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome UBQLNL 143630 broad.mit.edu 37 11 5537612 5537612 + Silent SNP C C A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr11:5537612C>A uc001maz.3 - 1 345 c.60G>T c.(58-60)CTG>CTT p.L20L HBG2_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN ubiquilin-like 20 large_intestine(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) TGTCTGCCAGCAGACCTGATG 0.517000 EIF3M 10480 broad.mit.edu 37 11 32610588 32610588 + Missense_Mutation SNP G G C TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr11:32610588G>C uc001mtu.2 + 4 388 c.345G>C c.(343-345)AAG>AAC p.K115N EIF3M_uc010ref.1_Intron NM_006360 NP_006351 Q7L2H7 EIF3M_HUMAN eukaryotic translation initiation factor 3, 115 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1)|breast(1)|skin(1) 3 Breast(20;0.109) GGATGGATAAGAATACTCCTG 0.393000 C2CD3 26005 broad.mit.edu 37 11 73814404 73814404 + Silent SNP C C T rs147082398 TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr11:73814404C>T uc001ouu.2 - 14 2579 c.2352G>A c.(2350-2352)ACG>ACA p.T784T NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 784 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) GGGAGGCTGGCGTAGCTACGA 0.458000 JRKL 8690 broad.mit.edu 37 11 96124155 96124155 + Silent SNP A A G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr11:96124155A>G uc009ywu.2 + 2 594 c.342A>G c.(340-342)GGA>GGG p.G114G CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Silent_p.G114G NM_003772 NP_003763 Q9Y4A0 JERKL_HUMAN jerky homolog-like 114 HTH CENPB-type.|H-T-H motif (By similarity). central nervous system development|regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) BRCA - Breast invasive adenocarcinoma(274;0.148) ATGCTTTGGGAATGGATGGTG 0.428000 KIF21A 55605 broad.mit.edu 37 12 39726737 39726737 + Missense_Mutation SNP G G A rs145318959 TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr12:39726737G>A uc001rly.2 - 19 2806 c.2660C>T c.(2659-2661)GCG>GTG p.A887V KIF21A_uc001rlv.2_5'Flank|KIF21A_uc001rlw.2_Missense_Mutation_p.A204V|KIF21A_uc001rlx.2_Missense_Mutation_p.A874V|KIF21A_uc001rlz.2_Missense_Mutation_p.A851V|KIF21A_uc010skl.1_Missense_Mutation_p.A874V NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 887 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) CTGGACTCTCGCCACAGGAAT 0.488000 ARID2 196528 broad.mit.edu 37 12 46245192 46245192 + Nonsense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr12:46245192C>T uc001ros.1 + 15 3286 c.3286C>T c.(3286-3288)CAG>TAG p.Q1096* ARID2_uc001ror.2_Nonsense_Mutation_p.Q1096*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q552*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q723*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q430* NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1096 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCCTAGCCCTCAGGTGGTCTA 0.527000 ITGB7 3695 broad.mit.edu 37 12 53586645 53586645 + Silent SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr12:53586645C>T uc009zmv.2 - 12 1847 c.1776G>A c.(1774-1776)ACG>ACA p.T592T ITGB7_uc001scc.2_Silent_p.T592T|ITGB7_uc010snz.1_Intron NM_000889 NP_000880 P26010 ITB7_HUMAN integrin, beta 7 precursor 592 Cysteine-rich tandem repeats.|Extracellular (Potential).|III. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1) 8 ATGCTCTGCCCGTGCGGTTGG 0.582000 MYF5 4617 broad.mit.edu 37 12 81111227 81111227 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr12:81111227C>T uc001szg.2 + 1 520 c.385C>T c.(385-387)CGC>TGC p.R129C NM_005593 NP_005584 P13349 MYF5_HUMAN myogenic factor 5 129 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 GAATGCCATCCGCTACATCGA 0.587000 TMEM119 338773 broad.mit.edu 37 12 108985349 108985349 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr12:108985349C>T uc001tng.2 - 2 974 c.811G>A c.(811-813)GAA>AAA p.E271K TMEM119_uc001tnf.2_RNA NM_181724 NP_859075 Q4V9L6 TM119_HUMAN transmembrane protein 119 precursor 271 Cytoplasmic (Potential). integral to membrane ovary(1) 1 CAGGGGCTTTCGGGGGGACCC 0.667000 GOLGA3 2802 broad.mit.edu 37 12 133398686 133398686 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr12:133398686C>T uc001ukz.1 - 2 588 c.29G>A c.(28-30)GGC>GAC p.G10D GOLGA3_uc001ula.1_Missense_Mutation_p.G10D|GOLGA3_uc001ulb.2_Missense_Mutation_p.G10D NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 10 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CTCCTGGAGGCCATCTTGCTC 0.647000 UGGT2 55757 broad.mit.edu 37 13 96592282 96592282 + Nonsense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr13:96592282G>A uc001vmt.2 - 16 1911 c.1741C>T c.(1741-1743)CAA>TAA p.Q581* NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 581 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity ovary(2)|central_nervous_system(1) 3 AATGTATTTTGGAGAACACTC 0.259000 NPAS3 64067 broad.mit.edu 37 14 34270057 34270057 + Silent SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr14:34270057G>A uc001wru.2 + 12 2608 c.2544G>A c.(2542-2544)GCG>GCA p.A848A NPAS3_uc001wrs.2_Silent_p.A835A|NPAS3_uc001wrt.2_Silent_p.A816A|NPAS3_uc001wrv.2_Silent_p.A818A NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 848 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) TGCCCAACGCGCACGCTGTTA 0.652000 PAX9 5083 broad.mit.edu 37 14 37132608 37132608 + Missense_Mutation SNP G G A rs143020311 byFrequency TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr14:37132608G>A uc001wty.3 + 3 1228 c.511G>A c.(511-513)GCC>ACC p.A171T PAX9_uc010amq.2_5'Flank NM_006194 NP_006185 P55771 PAX9_HUMAN paired box 9 171 Interaction with KDM5B. multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) GGCGGCGGCCGCCAAGGTGCC 0.682000 SERPINA1 5265 broad.mit.edu 37 14 94844974 94844974 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr14:94844974C>T uc001ycx.3 - 5 1330 c.1069G>A c.(1069-1071)GTG>ATG p.V357M SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.V357M|SERPINA1_uc010aux.2_Missense_Mutation_p.V357M|SERPINA1_uc001ycy.3_Missense_Mutation_p.V357M|SERPINA1_uc010auy.2_Missense_Mutation_p.V357M|SERPINA1_uc001ycz.3_Missense_Mutation_p.V357M|SERPINA1_uc010auz.2_Missense_Mutation_p.V357M|SERPINA1_uc010ava.2_Missense_Mutation_p.V357M|SERPINA1_uc001ydb.3_Missense_Mutation_p.V357M|SERPINA1_uc010avb.2_Missense_Mutation_p.V357M|SERPINA1_uc001ydc.3_Missense_Mutation_p.V357M NM_000295 NP_000286 P01009 A1AT_HUMAN serine proteinase inhibitor, clade A, member 1 357 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity skin(1) 1 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) GCCTTATGCACGGCCTGGAGG 0.592000 Alpha-1-Antitrypsin_Deficiency ODF3L1 161753 broad.mit.edu 37 15 76019658 76019658 + Missense_Mutation SNP C C A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr15:76019658C>A uc002bax.1 + 4 824 c.602C>A c.(601-603)CCT>CAT p.P201H NM_175881 NP_787077 Q8IXM7 OD3L1_HUMAN outer dense fiber of sperm tails 3-like 1 201 DUF1309 1. 0 GGCCCTGGACCTACCACGTAC 0.622000 HAPLN3 145864 broad.mit.edu 37 15 89424648 89424648 + Missense_Mutation SNP G G T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr15:89424648G>T uc002bnc.2 - 3 561 c.433C>A c.(433-435)CGC>AGC p.R145S HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.R207S NM_178232 NP_839946 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 145 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 Lung NSC(78;0.0392)|all_lung(78;0.077) ACCTCACAGCGGTAACGCCCA 0.617000 A2BP1 54715 broad.mit.edu 37 16 7759122 7759122 + Missense_Mutation SNP G G A rs138704494 TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr16:7759122G>A uc002cys.2 + 15 2048 c.1060G>A c.(1060-1062)GTT>ATT p.V354I A2BP1_uc002cyt.2_Missense_Mutation_p.V327I|A2BP1_uc010uxz.1_Missense_Mutation_p.V397I|A2BP1_uc010uya.1_Silent_p.A328A|A2BP1_uc010uyb.1_Missense_Mutation_p.V354I|A2BP1_uc002cyw.2_Silent_p.A392A|A2BP1_uc002cyy.2_Missense_Mutation_p.V375I|A2BP1_uc002cyx.2_Missense_Mutation_p.V375I|A2BP1_uc010uyc.1_Missense_Mutation_p.V348I NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 354 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) CACCTACGGCGTTGGTGCCAT 0.547000 SCNN1B 6338 broad.mit.edu 37 16 23382763 23382763 + Missense_Mutation SNP A A G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr16:23382763A>G uc002dln.2 + 6 1200 c.1024A>G c.(1024-1026)ACG>GCG p.T342A NM_000336 NP_000327 P51168 SCNNB_HUMAN sodium channel, nonvoltage-gated 1, beta 342 Extracellular (By similarity). excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(3)|breast(2)|large_intestine(1)|pancreas(1) 7 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) GGGGACAGAGACGTCCATCGG 0.632000 CDH1 999 broad.mit.edu 37 16 68842627 68842627 + Missense_Mutation SNP T T A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr16:68842627T>A uc002ewg.1 + 5 687 c.563T>A c.(562-564)GTT>GAT p.V188D CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.V188D NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 188 Cadherin 1.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) GAAGGCAAGGTTTTCTACAGC 0.423000 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer TNS4 84951 broad.mit.edu 37 17 38652436 38652436 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr17:38652436G>A uc010cxb.2 - 2 406 c.242C>T c.(241-243)CCG>CTG p.P81L NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN tensin 4 precursor 81 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) ACCAGGGGACGGCAGGAAGCA 0.647000 ATP6V0A1 535 broad.mit.edu 37 17 40639324 40639324 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr17:40639324C>T uc002hzr.2 + 10 1129 c.962C>T c.(961-963)GCA>GTA p.A321V ATP6V0A1_uc002hzq.2_Missense_Mutation_p.A321V|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.A328V|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.A278V|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.A278V|ATP6V0A1_uc010cyg.2_Intron|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.A180V NM_001130021 NP_001123493 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 321 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) TGCTTGATTGCAGAGGTCTGG 0.522000 HOXB2 3212 broad.mit.edu 37 17 46621062 46621062 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr17:46621062G>A uc002inm.2 - 2 559 c.439C>T c.(439-441)CGC>TGC p.R147C NM_002145 NP_002136 P14652 HXB2_HUMAN homeobox B2 147 Homeobox. blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TAAGCCGTGCGCAGCCTGCGC 0.642000 KCNH6 81033 broad.mit.edu 37 17 61621612 61621612 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr17:61621612G>A uc002jay.2 + 12 2424 c.2344G>A c.(2344-2346)GCA>ACA p.A782T KCNH6_uc010wpl.1_Missense_Mutation_p.A623T|KCNH6_uc010wpm.1_Missense_Mutation_p.A746T|KCNH6_uc002jaz.1_Missense_Mutation_p.A693T NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 782 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) TCCTGCAGATGCAGCCCCTCC 0.627000 RPTOR 57521 broad.mit.edu 37 17 78854264 78854264 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr17:78854264C>T uc002jyt.1 + 14 2364 c.1559C>T c.(1558-1560)TCG>TTG p.S520L RPTOR_uc010wug.1_Intron NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 520 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 TACTTCCTGTCGGTCCTGGCG 0.627000 PCSK4 54760 broad.mit.edu 37 19 1481952 1481952 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr19:1481952G>A uc002ltb.1 - 15 2136 c.2074C>T c.(2074-2076)CGC>TGC p.R692C C19orf25_uc010xgn.1_5'Flank|C19orf25_uc002lsy.3_5'Flank|C19orf25_uc010dsk.2_5'Flank|C19orf25_uc010xgo.1_5'Flank|C19orf25_uc002lsx.1_5'Flank|PCSK4_uc002lsz.2_Missense_Mutation_p.R179C|PCSK4_uc002lta.2_3'UTR NM_017573 NP_060043 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 692 FU. proteolysis integral to membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) AGCCGGGGGCGGCTGTCGGGG 0.736000 HDGFRP2 84717 broad.mit.edu 37 19 4499495 4499495 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr19:4499495G>A uc002mao.2 + 14 1676 c.1583G>A c.(1582-1584)CGT>CAT p.R528H HDGFRP2_uc002map.2_Missense_Mutation_p.R528H|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_5'UTR|HDGFRP2_uc002maq.1_5'UTR NM_001001520 NP_001001520 Q7Z4V5 HDGR2_HUMAN hepatoma-derived growth factor-related protein 2 528 Potential. transcription, DNA-dependent nucleus DNA binding|protein binding 0 CAGATTCGCCGTTACAAAGCG 0.567000 SMARCA4 6597 broad.mit.edu 37 19 11123694 11123694 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr19:11123694G>A uc002mqf.3 + 16 2628 c.2344G>A c.(2344-2346)GGC>AGC p.G782S SMARCA4_uc010dxp.2_Missense_Mutation_p.G782S|SMARCA4_uc010dxo.2_Missense_Mutation_p.G782S|SMARCA4_uc002mqg.1_Missense_Mutation_p.G782S|SMARCA4_uc010dxq.2_Missense_Mutation_p.G782S|SMARCA4_uc010dxr.2_Missense_Mutation_p.G782S|SMARCA4_uc002mqj.3_Missense_Mutation_p.G782S|SMARCA4_uc010dxs.2_Missense_Mutation_p.G782S|SMARCA4_uc010dxt.1_Missense_Mutation_p.G2S NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 782 Helicase ATP-binding.|ATP (Potential). chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) CGACGAGATGGGCCTGGGGAA 0.572000 F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome MAST3 23031 broad.mit.edu 37 19 18218412 18218412 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr19:18218412C>T uc002nhz.3 + 2 55 c.55C>T c.(55-57)CCA>TCA p.P19S NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 19 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 GCTGAGCCTGCCACGCCGAGG 0.572000 MAST3 23031 broad.mit.edu 37 19 18255980 18255980 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr19:18255980C>T uc002nhz.3 + 23 2893 c.2893C>T c.(2893-2895)CGG>TGG p.R965W NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 965 PDZ. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 CTTCAGCCTGCGGGCGATCCG 0.637000 HOMER3 9454 broad.mit.edu 37 19 19049214 19049214 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr19:19049214C>T uc002nku.2 - 3 904 c.251G>A c.(250-252)CGC>CAC p.R84H HOMER3_uc010eby.2_Missense_Mutation_p.R84H|HOMER3_uc010ebz.2_Missense_Mutation_p.R84H|HOMER3_uc002nkw.2_Missense_Mutation_p.R84H|HOMER3_uc002nkv.2_Missense_Mutation_p.R84H NM_004838 NP_004829 Q9NSC5 HOME3_HUMAN Homer, neuronal immediate early gene, 3 isoform 84 WH1. metabotropic glutamate receptor signaling pathway|protein targeting cell junction|cytoplasm|postsynaptic density|postsynaptic membrane protein binding 0 Epithelial(12;0.0107) TGTGTTGGCGCGACTGTCGGC 0.398000 IL4I1 259307 broad.mit.edu 37 19 50398344 50398344 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr19:50398344G>A uc002pqt.1 - 4 424 c.346C>T c.(346-348)CGC>TGC p.R116C IL4I1_uc002pqv.1_Missense_Mutation_p.R125C|IL4I1_uc010eno.1_Missense_Mutation_p.R124C|IL4I1_uc002pqw.1_Missense_Mutation_p.R124C|IL4I1_uc002pqu.1_Missense_Mutation_p.R138C NM_152899 NP_690863 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 isoform 1 precursor 116 FAD (By similarity). Substrate (By similarity). lysosome L-amino-acid oxidase activity lung(1)|ovary(1)|prostate(1) 3 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) CTGGGCATGCGCATGGCTCCC 0.632000 GALM 130589 broad.mit.edu 37 2 38908455 38908455 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr2:38908455G>A uc002rqy.2 + 3 631 c.379G>A c.(379-381)GTC>ATC p.V127I NM_138801 NP_620156 Q96C23 GALM_HUMAN galactose mutarotase 127 hexose metabolic process cytoplasm aldose 1-epimerase activity|carbohydrate binding 0 all_hematologic(82;0.248) GTCAAATGGCGTCCAGTTCTC 0.488000 C2orf55 343990 broad.mit.edu 37 2 99449454 99449454 + Silent SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr2:99449454C>T uc002szf.1 - 4 540 c.246G>A c.(244-246)TCG>TCA p.S82S NM_207362 NP_997245 Q6NV74 CB055_HUMAN hypothetical protein LOC343990 82 0 GCGTGCCCCTCGACTCCCTAG 0.562000 CCDC138 165055 broad.mit.edu 37 2 109463198 109463198 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr2:109463198C>T uc002ten.1 + 12 1388 c.1328C>T c.(1327-1329)TCG>TTG p.S443L CCDC138_uc002teo.1_Missense_Mutation_p.S443L|CCDC138_uc002tep.1_Missense_Mutation_p.S127L|CCDC138_uc010fjm.1_Missense_Mutation_p.S127L NM_144978 NP_659415 Q96M89 CC138_HUMAN coiled-coil domain containing 138 443 0 TAACAGCACTCGACTATGACA 0.259000 TTN 7273 broad.mit.edu 37 2 179604668 179604668 + Missense_Mutation SNP T T G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr2:179604668T>G uc010zfh.1 - 46 13003 c.12779A>C c.(12778-12780)AAC>ACC p.N4260T TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.N4193T|TTN_uc010zfj.1_Missense_Mutation_p.N4068T|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGGGTGATGTTTACAGCCTC 0.473000 MPP4 58538 broad.mit.edu 37 2 202558645 202558645 + Silent SNP T T G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr2:202558645T>G uc002uyk.3 - 2 241 c.33A>C c.(31-33)CCA>CCC p.P11P MPP4_uc010ftj.2_Silent_p.P11P|MPP4_uc010zhq.1_Silent_p.P11P|MPP4_uc010zhr.1_Silent_p.P11P|MPP4_uc010zhs.1_Silent_p.P11P|MPP4_uc002uyj.3_Silent_p.P11P|MPP4_uc010zht.1_Silent_p.P11P|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Silent_p.P11P|MPP4_uc002uym.1_Silent_p.P24P|MPP4_uc002uyn.2_Silent_p.P11P NM_033066 NP_149055 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 11 cytoplasm protein binding 0 CCTTCTTGTCTGGTGGATCTG 0.483000 ADAM23 8745 broad.mit.edu 37 2 207424813 207424813 + Missense_Mutation SNP G G T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr2:207424813G>T uc002vbq.2 + 11 1363 c.1140G>T c.(1138-1140)AAG>AAT p.K380N ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 380 Peptidase M12B.|Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) AGCGCATTAAGCAGCATGCTG 0.468000 ANO7 50636 broad.mit.edu 37 2 242141701 242141701 + Silent SNP C C T rs151257402 TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr2:242141701C>T uc002wax.2 + 8 970 c.867C>T c.(865-867)GCC>GCT p.A289A NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 289 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 TCCTCAGTGCCGCCTTCCCCC 0.647000 SLC4A11 83959 broad.mit.edu 37 20 3214843 3214843 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr20:3214843G>A uc002wig.2 - 4 505 c.457C>T c.(457-459)CGG>TGG p.R153W SLC4A11_uc010zqe.1_Missense_Mutation_p.R180W|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.R137W NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 153 Cytoplasmic (Potential). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 AGCATGGTCCGCAGCACGTTA 0.627000 ISM1 140862 broad.mit.edu 37 20 13251272 13251272 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr20:13251272G>A uc010gce.1 + 2 266 c.260G>A c.(259-261)CGA>CAA p.R87Q TASP1_uc010zri.1_Intron NM_080826 NP_543016 B1AKI9 ISM1_HUMAN isthmin 1 homolog precursor 87 extracellular region 0 CCGCGATTCCGACAAGAGACG 0.507000 SLC24A3 57419 broad.mit.edu 37 20 19662610 19662610 + Silent SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr20:19662610C>T uc002wrl.2 + 10 1073 c.876C>T c.(874-876)GAC>GAT p.D292D NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN solute carrier family 24 292 Cytoplasmic (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(1) 1 GCAACTGCGACGCAACTGTGG 0.333000 TM9SF4 9777 broad.mit.edu 37 20 30742950 30742950 + Silent SNP A A G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr20:30742950A>G uc002wxj.2 + 13 1525 c.1290A>G c.(1288-1290)GTA>GTG p.V430V TM9SF4_uc010zts.1_Silent_p.V337V|TM9SF4_uc002wxk.2_Silent_p.V413V|TM9SF4_uc010gdz.2_Intron NM_014742 NP_055557 Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 430 Helical; (Potential). integral to membrane central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCTGCTTCGTATTGAATTGCT 0.582000 ACSS2 55902 broad.mit.edu 37 20 33508432 33508432 + Missense_Mutation SNP T T A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr20:33508432T>A uc002xbd.2 + 9 1184 c.1063T>A c.(1063-1065)TGC>AGC p.C355S ACSS2_uc002xbc.2_Missense_Mutation_p.C260S|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Missense_Mutation_p.C368S|ACSS2_uc002xbe.2_Missense_Mutation_p.C63S|ACSS2_uc002xbf.2_Intron NM_018677 NP_061147 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 355 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding 0 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGTGTTCTGGTGCACGGCAGA 0.532000 ZBTB46 140685 broad.mit.edu 37 20 62421407 62421407 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr20:62421407G>A uc002ygv.1 - 2 905 c.704C>T c.(703-705)CCG>CTG p.P235L ZBTB46_uc002ygu.2_RNA NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1)|ovary(1) 2 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) GTACTGAGACGGTGAAACCTG 0.602000 SON 6651 broad.mit.edu 37 21 34918579 34918579 + Silent SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr21:34918579G>A uc002yse.1 + 2 187 c.138G>A c.(136-138)GCG>GCA p.A46A SON_uc002ysb.1_Silent_p.A46A|SON_uc002ysc.2_Silent_p.A46A|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Silent_p.A46A NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 46 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 GAAACCAGGCGGGTGATGCAG 0.408000 SON 6651 broad.mit.edu 37 21 34924325 34924325 + Silent SNP T T C TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr21:34924325T>C uc002yse.1 + 3 2837 c.2788T>C c.(2788-2790)TTG>CTG p.L930L SON_uc002ysb.1_Silent_p.L930L|SON_uc002ysc.2_Silent_p.L930L|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 930 11 X 7 AA tandem repeats of [DR]-P-Y-R- [LI][AG][QHP]. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 TCCCTATAGGTTGGGCCATGA 0.458000 MX1 4599 broad.mit.edu 37 21 42824698 42824698 + Missense_Mutation SNP A A C TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr21:42824698A>C uc002yzh.2 + 18 2607 c.1660A>C c.(1660-1662)AAG>CAG p.K554Q MX1_uc002yzi.2_Missense_Mutation_p.K554Q|MX1_uc010goq.2_Missense_Mutation_p.K554Q NM_001144925 NP_001138397 P20591 MX1_HUMAN myxovirus resistance protein 1 554 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) GGAAGAAGAAAAGAAGAAGAA 0.512000 MYH9 4627 broad.mit.edu 37 22 36685273 36685273 + Missense_Mutation SNP C C G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr22:36685273C>G uc003apg.2 - 32 4646 c.4415G>C c.(4414-4416)CGA>CCA p.R1472P NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1472 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CTCCTTCTCTCGGGCCTCCGC 0.652000 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated CPNE9 151835 broad.mit.edu 37 3 9757165 9757165 + Missense_Mutation SNP C C A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr3:9757165C>A uc003bsd.2 + 12 948 c.777C>A c.(775-777)AAC>AAA p.N259K NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN copine-like protein 259 ovary(2) 2 Medulloblastoma(99;0.227) AGGTTCTTAACCCTCGGAAGA 0.517000 SEC13 6396 broad.mit.edu 37 3 10354288 10354288 + Silent SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr3:10354288G>A uc003bvn.2 - 4 410 c.291C>T c.(289-291)CAC>CAT p.H97H SEC13_uc003bvl.2_Silent_p.H29H|SEC13_uc003bvm.2_Silent_p.H83H|SEC13_uc003bvp.2_Silent_p.H100H|SEC13_uc003bvo.2_Silent_p.H143H|SEC13_uc003bvq.1_Silent_p.H83H|SEC13_uc003bvr.1_Silent_p.H83H|SEC13_uc011aul.1_Silent_p.H97H NM_183352 NP_899195 P55735 SEC13_HUMAN SEC13 protein isoform 1 97 COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex protein binding ovary(1) 1 CCGCATGCTCGTGGCTCTTCT 0.592000 GALNTL2 117248 broad.mit.edu 37 3 16217180 16217180 + Silent SNP C C T rs142412711 by1000genomes TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr3:16217180C>T uc003car.3 + 1 997 c.522C>T c.(520-522)CCC>CCT p.P174P GALNTL2_uc003caq.3_Intron NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 174 Lumenal (Potential). Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 GGGCTCTGCCCGAGGTGCGGC 0.607000 OXSR1 9943 broad.mit.edu 37 3 38278355 38278355 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr3:38278355G>A uc003chy.2 + 11 1319 c.977G>A c.(976-978)GGG>GAG p.G326E OXSR1_uc010hhb.2_Missense_Mutation_p.G260E NM_005109 NP_005100 O95747 OXSR1_HUMAN oxidative-stress responsive 1 326 intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GGTTCCAGTGGGCGTCTTCAT 0.438000 NLGN1 22871 broad.mit.edu 37 3 173525589 173525589 + Missense_Mutation SNP G G A rs142026432 TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr3:173525589G>A uc003fio.1 + 4 1036 c.613G>A c.(613-615)GTC>ATC p.V205I NLGN1_uc010hww.1_Missense_Mutation_p.V245I|NLGN1_uc003fip.1_Missense_Mutation_p.V205I NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 222 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity p.V205L(1) lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CAATGTGATCGTCATCACAGT 0.378000 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr3:178936082G>A uc003fjk.2 + 10 1781 c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 PI3K helical. E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) EVC2 132884 broad.mit.edu 37 4 5564606 5564606 + Missense_Mutation SNP T T A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr4:5564606T>A uc003gij.2 - 22 3950 c.3896A>T c.(3895-3897)AAA>ATA p.K1299I EVC2_uc011bwb.1_Missense_Mutation_p.K739I|EVC2_uc003gik.2_Missense_Mutation_p.K1219I NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 1299 integral to membrane large_intestine(3)|ovary(2) 5 CATGGCCTTTTTGGCATTCAA 0.488000 BOD1L 259282 broad.mit.edu 37 4 13602962 13602962 + Silent SNP A A G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr4:13602962A>G uc003gmz.1 - 10 5679 c.5562T>C c.(5560-5562)ATT>ATC p.I1854I BOD1L_uc010idr.1_Silent_p.I1191I NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1854 DNA binding ovary(5)|breast(1) 6 TGCTAGTCACAATGCCTTCAT 0.468000 SLIT2 9353 broad.mit.edu 37 4 20525430 20525430 + Missense_Mutation SNP A A G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr4:20525430A>G uc003gpr.1 + 13 1382 c.1178A>G c.(1177-1179)CAG>CGG p.Q393R SLIT2_uc003gps.1_Missense_Mutation_p.Q393R NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 393 LRR 10. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 GATGCTTTTCAGGATCTCCAC 0.398000 ADAMTS3 9508 broad.mit.edu 37 4 73175207 73175207 + Missense_Mutation SNP T T A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr4:73175207T>A uc003hgk.1 - 15 2123 c.2086A>T c.(2086-2088)AAT>TAT p.N696Y ADAMTS3_uc003hgl.2_Missense_Mutation_p.N37Y NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 696 Cys-rich. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCAACCTTATTAGAACCAATT 0.448000 FGA 2243 broad.mit.edu 37 4 155507659 155507659 + Nonsense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr4:155507659G>A uc003iod.1 - 5 980 c.922C>T c.(922-924)CGA>TGA p.R308* FGA_uc003ioe.1_Nonsense_Mutation_p.R308*|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 308 By similarity. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CCAGGGTTTCGGTTTCCAGTA 0.577000 MAST4 375449 broad.mit.edu 37 5 66430465 66430465 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr5:66430465G>A uc003jut.1 + 17 1842 c.1774G>A c.(1774-1776)GTG>ATG p.V592M MAST4_uc003juu.1_Missense_Mutation_p.V602M|MAST4_uc011cra.1_Missense_Mutation_p.V575M|MAST4_uc003juv.2_Missense_Mutation_p.V587M|MAST4_uc003juw.2_Missense_Mutation_p.V587M NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 784 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GGTTGGATGCGTGCCATTCTT 0.463000 GPR98 84059 broad.mit.edu 37 5 89923174 89923174 + Silent SNP T T C TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr5:89923174T>C uc003kju.2 + 7 915 c.819T>C c.(817-819)CCT>CCC p.P273P GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 273 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) ATTTGGTTCCTGAGGAAGACC 0.383000 RIOK2 55781 broad.mit.edu 37 5 96503524 96503524 + Silent SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr5:96503524G>A uc003kmz.2 - 8 1154 c.1044C>T c.(1042-1044)TAC>TAT p.Y348Y RIOK2_uc003kna.3_Silent_p.Y348Y NM_018343 NP_060813 Q9BVS4 RIOK2_HUMAN RIO kinase 2 isoform 1 348 Protein kinase. ATP binding|protein serine/threonine kinase activity kidney(1) 1 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) TTTCTGACCCGTAAACCTCTG 0.393000 RAB24 53917 broad.mit.edu 37 5 176730061 176730061 + Silent SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr5:176730061G>A uc003mfv.2 - 3 504 c.135C>T c.(133-135)TTC>TTT p.F45F RAB24_uc003mfu.2_Silent_p.F16F|RAB24_uc003mfw.2_Silent_p.F45F|PRELID1_uc003mfx.2_5'Flank|PRELID1_uc003mfy.2_5'Flank NM_130781 NP_570137 Q969Q5 RAB24_HUMAN RAB24 gene product 45 Effector region (By similarity). autophagy|protein transport|small GTPase mediated signal transduction cytosol|membrane GTP binding|protein binding 0 all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTTGGCCACGAAGGCGGCCC 0.627000 FLT4 2324 broad.mit.edu 37 5 180038423 180038423 + Missense_Mutation SNP G G C TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr5:180038423G>C uc003mma.3 - 27 3673 c.3594C>G c.(3592-3594)AGC>AGG p.S1198R FLT4_uc003mlz.3_Missense_Mutation_p.S1198R NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 1198 Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CCTGCGAGAAGCTGCCCTCTT 0.667000 Congenital_Hereditary_Lymphedema HIVEP1 3096 broad.mit.edu 37 6 12123037 12123037 + Silent SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr6:12123037C>T uc003nac.2 + 4 3188 c.3009C>T c.(3007-3009)CCC>CCT p.P1003P HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1003 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GCCCTGTGCCCGGCGGTCTGC 0.463000 BAT2 7916 broad.mit.edu 37 6 31600597 31600597 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr6:31600597C>T uc003nvb.3 + 16 4396 c.4147C>T c.(4147-4149)CGG>TGG p.R1383W BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.R1383W NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1383 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 TTTGAGTAAACGGAGCTTCTC 0.637000 RWDD2A 112611 broad.mit.edu 37 6 83905791 83905791 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr6:83905791G>A uc003pjx.3 + 3 950 c.679G>A c.(679-681)GTG>ATG p.V227M PGM3_uc003pjv.2_5'Flank|PGM3_uc003pjw.2_5'Flank|PGM3_uc011dyz.1_5'Flank|RWDD2A_uc011dza.1_Missense_Mutation_p.V152M NM_033411 NP_219479 Q9UIY3 RWD2A_HUMAN RWD domain containing 2A 227 0 all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217) BRCA - Breast invasive adenocarcinoma(397;0.045) TGCTGAAAGCGTGGAGACAGA 0.448000 TBX18 9096 broad.mit.edu 37 6 85446536 85446536 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr6:85446536G>A uc003pkl.1 - 8 1691 c.1691C>T c.(1690-1692)ACG>ATG p.T564M TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 564 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CTGCCGATCCGTCATGGTCCC 0.527000 CENPW 387103 broad.mit.edu 37 6 126661513 126661513 + Nonsense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr6:126661513C>T uc003qao.2 + 1 261 c.94C>T c.(94-96)CAA>TAA p.Q32* CENPW_uc003qap.3_RNA NM_001012507 NP_001012525 Q5EE01 CENPW_HUMAN hypothetical protein LOC387103 32 chromosome, centromeric region|nucleus DNA binding 0 AAAGAAGCCTCAACTTCGTCT 0.527000 ACTB 60 broad.mit.edu 37 7 5568970 5568970 + Missense_Mutation SNP C C G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr7:5568970C>G uc003sos.3 - 2 221 c.185G>C c.(184-186)AGA>ACA p.R62T ACTB_uc003sor.3_5'UTR|ACTB_uc003sot.3_Missense_Mutation_p.R62T|ACTB_uc003soq.3_5'UTR|ACTB_uc010ksy.2_Intron NM_001101 NP_001092 P60709 ACTB_HUMAN beta actin 62 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton 0 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) GAGGATGCCTCTCTTGCTCTG 0.582000 SP4 6671 broad.mit.edu 37 7 21550866 21550866 + Silent SNP A A G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr7:21550866A>G uc003sva.2 + 6 2515 c.2334A>G c.(2332-2334)TCA>TCG p.S778S SP4_uc003svb.2_Silent_p.S465S NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 778 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 CCAATGTTTCAACCAACATGG 0.428000 HGF 3082 broad.mit.edu 37 7 81381520 81381520 + Nonsense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr7:81381520G>A uc003uhl.2 - 5 706 c.541C>T c.(541-543)CGA>TGA p.R181* HGF_uc003uhm.2_Nonsense_Mutation_p.R176*|HGF_uc003uhn.1_Nonsense_Mutation_p.R181*|HGF_uc003uho.1_Nonsense_Mutation_p.R176*|HGF_uc003uhp.2_Nonsense_Mutation_p.R181* NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 181 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 TCTTCCCCTCGAGGATTTCGA 0.428000 KIAA1324L 222223 broad.mit.edu 37 7 86526893 86526893 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr7:86526893C>T uc011kha.1 - 19 2799 c.2614G>A c.(2614-2616)GCT>ACT p.A872T KIAA1324L_uc003uif.1_Missense_Mutation_p.A632T|KIAA1324L_uc011kgz.1_Missense_Mutation_p.A758T|KIAA1324L_uc003uie.2_Missense_Mutation_p.A705T NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 872 Extracellular (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) CAAGCTTCAGCACTCTCCCAC 0.463000 C7orf63 79846 broad.mit.edu 37 7 89939392 89939392 + Missense_Mutation SNP G G T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr7:89939392G>T uc010lep.2 + 23 2917 c.2666G>T c.(2665-2667)GGT>GTT p.G889V C7orf63_uc011khj.1_Missense_Mutation_p.G871V|C7orf63_uc011khk.1_Missense_Mutation_p.G405V NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN hypothetical protein LOC79846 isoform 1 889 binding ovary(1) 1 GTGCCCTCTGGTGGAGTAGTA 0.413000 OR9A4 130075 broad.mit.edu 37 7 141618798 141618798 + Missense_Mutation SNP C C A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr7:141618798C>A uc003vwu.1 + 1 123 c.123C>A c.(121-123)AAC>AAA p.N41K NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, 41 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.0171) TAATGGGAAACACAGTCATCA 0.443000 TRPV6 55503 broad.mit.edu 37 7 142573294 142573294 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr7:142573294C>T uc003wbx.1 - 8 1265 c.1049G>A c.(1048-1050)CGC>CAC p.R350H TRPV6_uc003wbw.1_Missense_Mutation_p.R136H|TRPV6_uc010lou.1_Missense_Mutation_p.R221H NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 350 Extracellular (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) CTTGAGGGGGCGGTAGATGCA 0.572000 MCPH1 79648 broad.mit.edu 37 8 6500543 6500543 + Silent SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr8:6500543C>T uc003wqi.2 + 14 2549 c.2481C>T c.(2479-2481)GCC>GCT p.A827A uc003wqm.2_Intron NM_024596 NP_078872 Q8NEM0 MCPH1_HUMAN microcephalin 827 BRCT 3. microtubule organizing center central_nervous_system(1)|skin(1) 2 Hepatocellular(245;0.0663) Colorectal(4;0.0505) AGGTCTGTGCCCCTGAAAACT 0.448000 SOX7 83595 broad.mit.edu 37 8 10583557 10583557 + Silent SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr8:10583557C>T uc003wtf.2 - 2 937 c.858G>A c.(856-858)CCG>CCA p.P286P SOX7_uc011kwz.1_Silent_p.P338P NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 286 Sox C-terminal. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) GGTAGGTGGCCGGGGAGTAAT 0.672000 DLC1 10395 broad.mit.edu 37 8 13259102 13259102 + Silent SNP C C T rs147228489 by1000genomes TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr8:13259102C>T uc003wwm.2 - 3 1494 c.1050G>A c.(1048-1050)GCG>GCA p.A350A DLC1_uc003wwn.2_Silent_p.A350A|DLC1_uc011kxy.1_Silent_p.A350A NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 350 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 AGTCCAGCCGCGCCCTATCTC 0.448000 TACC1 6867 broad.mit.edu 37 8 38693782 38693782 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr8:38693782G>A uc010lwp.2 + 7 2195 c.1816G>A c.(1816-1818)GTG>ATG p.V606M TACC1_uc011lby.1_Missense_Mutation_p.V411M|TACC1_uc003xma.2_Missense_Mutation_p.V44M|TACC1_uc003xlz.2_Missense_Mutation_p.V411M|TACC1_uc003xmc.3_Missense_Mutation_p.V410M|TACC1_uc011lbz.1_Missense_Mutation_p.V593M|TACC1_uc003xmb.3_Missense_Mutation_p.V532M|TACC1_uc010lwo.1_Missense_Mutation_p.V139M|TACC1_uc003xmf.3_Missense_Mutation_p.V196M|TACC1_uc011lca.1_Missense_Mutation_p.V589M|TACC1_uc011lcb.1_Missense_Mutation_p.V382M|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Missense_Mutation_p.V423M|TACC1_uc010lwq.2_Missense_Mutation_p.V423M NM_006283 NP_006274 O75410 TACC1_HUMAN transforming, acidic coiled-coil containing 606 cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding ovary(1) 1 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) CAAGACAGCCGTGCTCACCTT 0.522000 CHRNB3 1142 broad.mit.edu 37 8 42586889 42586889 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr8:42586889G>A uc003xpi.1 + 5 567 c.439G>A c.(439-441)GCC>ACC p.A147T NM_000749 NP_000740 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 147 Extracellular (Potential). synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1) 1 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) GACCCCTCCCGCCAGCTACAA 0.527000 MCM4 4173 broad.mit.edu 37 8 48874864 48874864 + Splice_Site SNP G G T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr8:48874864G>T uc003xqk.1 + 5 495 c.400_splice c.e5-1 p.A134_splice PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Splice_Site_p.A134_splice|MCM4_uc011ldi.1_Splice_Site_p.A121_splice|MCM4_uc010lxw.1_Splice_Site NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) TTTCTGTGTAGGCAGCAGCAG 0.453000 CLVS1 157807 broad.mit.edu 37 8 62370926 62370926 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr8:62370926C>T uc003xuh.2 + 5 1126 c.802C>T c.(802-804)CCC>TCC p.P268S CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Intron NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 268 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 TGAATTTTTGCCCTCTGAATT 0.413000 HAS2 3037 broad.mit.edu 37 8 122626580 122626580 + Missense_Mutation SNP T T C TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr8:122626580T>C uc003yph.2 - 4 1966 c.1428A>G c.(1426-1428)ATA>ATG p.I476M NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 476 Helical; Name=6; (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) GAATGAGTCCTATGAAATTAA 0.403000 NUP214 8021 broad.mit.edu 37 9 134049567 134049567 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr9:134049567G>A uc004cag.2 + 22 3130 c.3019G>A c.(3019-3021)GAG>AAG p.E1007K NUP214_uc004cah.2_Missense_Mutation_p.E997K|NUP214_uc004cai.2_Missense_Mutation_p.E437K|NUP214_uc004caf.1_Missense_Mutation_p.E996K|NUP214_uc010mzf.2_Missense_Mutation_p.E305K NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 1007 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TAAAGATGACGAGGCAGTGGT 0.542000 T DEK|SET|ABL1 AML|T-ALL SMS 6611 broad.mit.edu 37 X 21995314 21995314 + Silent SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chrX:21995314G>A uc004dag.2 + 5 566 c.465G>A c.(463-465)TCG>TCA p.S155S SMS_uc011mjq.1_Silent_p.S59S|SMS_uc004daf.1_Silent_p.S102S|SMS_uc010nfs.2_5'Flank|SMS_uc010nft.2_5'Flank NM_004595 NP_004586 P52788 SPSY_HUMAN spermine synthase 155 methionine metabolic process|spermine biosynthetic process cytosol spermidine synthase activity|spermine synthase activity ovary(1) 1 Spermine(DB00127) TTCTACACTCGAAGCAGTTTG 0.433000 DMD 1756 broad.mit.edu 37 X 31854892 31854892 + Missense_Mutation SNP C C A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chrX:31854892C>A uc004dda.1 - 49 7387 c.7143G>T c.(7141-7143)GAG>GAT p.E2381D DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.E1037D|DMD_uc004dcx.2_Missense_Mutation_p.E1040D|DMD_uc004dcz.2_Missense_Mutation_p.E2258D|DMD_uc004dcy.1_Missense_Mutation_p.E2377D|DMD_uc004ddb.1_Missense_Mutation_p.E2373D|DMD_uc004ddd.1_5'UTR NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2381 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) TAGACAAAATCTCTTCCACAT 0.403000 CYSLTR1 10800 broad.mit.edu 37 X 77529189 77529189 + Missense_Mutation SNP C C G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chrX:77529189C>G uc004edb.2 - 3 455 c.55G>C c.(55-57)GAT>CAT p.D19H CYSLTR1_uc010nma.2_Missense_Mutation_p.D19H|CYSLTR1_uc010nmb.2_Missense_Mutation_p.D19H NM_006639 NP_006630 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 19 Extracellular (Potential). elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity ovary(1) 1 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) CGGAAGTCATCAATAGTGTCA 0.383000 XPNPEP2 7512 broad.mit.edu 37 X 128878049 128878049 + Splice_Site SNP T T G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chrX:128878049T>G uc004eut.1 + 3 478 c.234_splice c.e3+2 p.M78_splice XPNPEP2_uc011mum.1_Splice_Site_p.M78_splice NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 GCTCACATGGTAAGAGACAGC 0.517000 SAGE1 55511 broad.mit.edu 37 X 134990775 134990775 + Silent SNP G G C TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chrX:134990775G>C uc004ezh.2 + 12 1607 c.1440G>C c.(1438-1440)CTG>CTC p.L480L SAGE1_uc010nry.1_Silent_p.L449L|SAGE1_uc011mvv.1_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 480 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) CCAGGGATCTGTGTATGTGTG 0.398000 G6PD 2539 broad.mit.edu 37 X 153763395 153763395 + Missense_Mutation SNP C C A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chrX:153763395C>A uc004fly.1 - 5 586 c.473G>T c.(472-474)TGC>TTC p.C158F G6PD_uc004flx.1_Missense_Mutation_p.C188F NM_001042351 NP_001035810 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase isoform b 158 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity ovary(4) 4 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) CTGGCTCATGCAGGACTCGTG 0.647000 TMLHE 55217 broad.mit.edu 37 X 154736649 154736649 + Missense_Mutation SNP A A G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chrX:154736649A>G uc004fnn.2 - 6 1071 c.905T>C c.(904-906)ATT>ACT p.I302T TMLHE_uc004fno.2_Missense_Mutation_p.I302T|TMLHE_uc004fnp.3_Missense_Mutation_p.I302T NM_018196 NP_060666 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 302 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity ovary(1) 1 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) AACATCTTCAATATATTCATG 0.403000 AFF2 2334 broad.mit.edu 37 X 148062319 148062322 + Splice_Site DEL AAGT AAGT - TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chrX:148062318_148062321AAAGT>A uc004fcp.3 + 19 4102 c.3623_splice c.e19+1 p.K1208_splice AFF2_uc004fcq.3_Splice_Site_p.K1198_splice|AFF2_uc004fcr.3_Splice_Site_p.K1169_splice|AFF2_uc011mxb.2_Splice_Site_p.K1173_splice|AFF2_uc004fcs.3_Splice_Site_p.K1173_splice|AFF2_uc011mxc.2_Splice_Site_p.K849_splice NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 1208 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TAAGCAATGGAAAGTAAGTATTTT 0.373 EIF2AK3 9451 broad.mit.edu 37 2 88890489 88890489 + Frame_Shift_Del DEL A A - TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr2:88890488_88890488TA>T uc002stc.4 - 4 1152 c.850_850TA>A c.(850-852)aagfs p.K284fs NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA. 284 ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 TCATTGGGCTTAAAGGTGCTT 0.403 BAG3 9531 broad.mit.edu 37 10 121431796 121431797 + In_Frame_Ins INS - - CTCATC TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr10:121431795_121431796G>GCTCATC uc001lem.3 + 2 842_843 c.536_537G>GCTCATC c.(535-537)tgc>tGCTCATC p.185_186insS BAG3_uc001lel.3_In_Frame_Ins_p.185_186insS NM_004281 NP_004272 O95817 BAG3_HUMAN Homo sapiens BCL2-associated athanogene 3 (BAG3), mRNA. 185 Poly-Ser. anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) GCCTCTGACTGCTCATCCTCAT 0.629 CHD4 1108 broad.mit.edu 37 12 6680117 6680118 + Frame_Shift_Del DEL GG GG - TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr12:6680116_6680117TGG>T uc001qpo.3 - 38 5803_5804 c.5639_5640CCA>A c.(5638-5640)ccafs p.P1880fs CHD4_uc001qpn.3_Frame_Shift_Del_p.P1873fs|CHD4_uc001qpp.3_Frame_Shift_Del_p.P1905fs|NOP2_uc021qtw.1_5'Flank|NOP2_uc021qtx.1_5'Flank|NOP2_uc021qty.1_5'Flank|NOP2_uc021qtz.1_5'Flank|NOP2_uc021qua.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA. 1880 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TCACAGCAACTGGGGGAATTCG 0.515 ARID2 196528 broad.mit.edu 37 12 46246525 46246528 + Frame_Shift_Del DEL CAAT CAAT - TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr12:46246524_46246527ACAAT>A uc001ros.1 + 14 4618_4621 c.4618_4621ACAAT>A c.(4618-4623)acaatcfs p.T1540fs ARID2_uc001ror.3_Frame_Shift_Del_p.T1540fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.T996fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.T1167fs|ARID2_uc001rou.1_Frame_Shift_Del_p.T874fs NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 1540 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TAGAATTGTTACAATCAGTGACCC 0.456 """N, S, F""" hepatocellular carcinoma THSD1 55901 broad.mit.edu 37 13 52971746 52971747 + Frame_Shift_Del DEL AT AT - TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr13:52971745_52971746CAT>C uc001vgo.3 - 2 1187_1188 c.642_643ATG>G c.(640-645)tatgtcfs p.Y214fs THSD1_uc001vgp.3_Frame_Shift_Del_p.Y214fs|THSD1_uc010tgz.2_Intron NM_018676 NP_061146 Q9NS62 THSD1_HUMAN Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA. 214 extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) ACCACGGTGACATAGGCTTCTG 0.525 RNF43 54894 broad.mit.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr17:56435160_56435160AC>A uc002iwf.3 - 7 3933 c.1977_1977GT>T c.(1975-1977)ggtfs p.G659fs RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 659 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.G659fs*41(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTCGGAGGGACCCCCCCGCC 0.597 SOX9 6662 broad.mit.edu 37 17 70118906 70118907 + Frame_Shift_Ins INS - - C TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr17:70118905_70118906G>GC uc002jiw.3 + 1 849_850 c.477_478G>GC c.(475-480)gagcggfs p.E159fs AK094963_uc002jiv.3_5'Flank NM_000346 NP_000337 P48436 SOX9_HUMAN Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA. 159 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) AGGAGGCGGAGCGGCTGCGCGT 0.653 RHPN2 85415 broad.mit.edu 37 19 33486993 33486994 + Frame_Shift_Del DEL CG CG - rs75351369 byFrequency TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chr19:33486992_33486993ACG>A uc002nuf.3 - 10 1425_1426 c.1359_1360CGT>T c.(1357-1362)acgtacfs p.T453fs RHPN2_uc010xro.2_Frame_Shift_Del_p.T302fs|RHPN2_uc002nue.3_Frame_Shift_Del_p.T183fs NM_033103 NP_149094 Q8IUC4 RHPN2_HUMAN Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA. 453 BRO1. signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) TGCTGGGCGTACGTGAGCCGGG 0.624 AFF2 2334 broad.mit.edu 37 X 148062319 148062322 + Splice_Site DEL AAGT AAGT - TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 g.chrX:148062318_148062321AAAGT>A uc004fcp.3 + 19 4102 c.3623_splice c.e19+1 p.K1208_splice AFF2_uc004fcq.3_Splice_Site_p.K1198_splice|AFF2_uc004fcr.3_Splice_Site_p.K1169_splice|AFF2_uc011mxb.2_Splice_Site_p.K1173_splice|AFF2_uc004fcs.3_Splice_Site_p.K1173_splice|AFF2_uc011mxc.2_Splice_Site_p.K849_splice NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 1208 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TAAGCAATGGAAAGTAAGTATTTT 0.373