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 PRDM16 63976 broad.mit.edu 37 1 3335280 3335280 + Missense_Mutation SNP A A T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:3335280A>T uc001akf.2 + 12 2991 c.2911A>T c.(2911-2913)AGG>TGG p.R971W PRDM16_uc001akc.2_Missense_Mutation_p.R970W|PRDM16_uc001akd.2_Missense_Mutation_p.R970W|PRDM16_uc001ake.2_Missense_Mutation_p.R971W|PRDM16_uc009vlh.2_Missense_Mutation_p.R671W NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 971 Mediates interaction with SKI and regulation of TGF-beta signaling.|C2H2-type 8.|Interaction with CTBP1 and CTBP2 (By similarity). brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CAGACACCTGAGGACGCACAC 0.652 T EVI1 MDS|AML MEGF6 1953 broad.mit.edu 37 1 3409280 3409280 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:3409280C>T uc001akl.2 - 35 4666 c.4439G>A c.(4438-4440)GGG>GAG p.G1480E MEGF6_uc001akk.2_Missense_Mutation_p.G1168E NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 1480 EGF-like 27. extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) AGCCCCACCCCCGCAGTCACA 0.642 HSPG2 3339 broad.mit.edu 37 1 22188486 22188486 + Missense_Mutation SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:22188486C>A uc001bfj.2 - 38 4903 c.4863G>T c.(4861-4863)GAG>GAT p.E1621D HSPG2_uc009vqd.2_Missense_Mutation_p.E1622D NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 1621 Laminin EGF-like 11. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCCACATGTTCTCTGGGTTGG 0.602 PTPRU 10076 broad.mit.edu 37 1 29639111 29639111 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:29639111G>A uc001bru.2 + 23 3260 c.3150G>A c.(3148-3150)GCG>GCA p.A1050A PTPRU_uc001brv.2_Silent_p.A1046A|PTPRU_uc001brw.2_Silent_p.A1040A|PTPRU_uc009vtq.2_Silent_p.A1046A|PTPRU_uc009vtr.2_Silent_p.A1037A NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1050 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) ACTTCACAGCGTGGCCAGAGC 0.617 HIVEP3 59269 broad.mit.edu 37 1 42047444 42047444 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:42047444G>A uc001cgz.3 - 4 4238 c.3025C>T c.(3025-3027)CGC>TGC p.R1009C HIVEP3_uc001cha.3_Missense_Mutation_p.R1009C|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1009 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GATTTGCTGCGTGTCTCGGTC 0.612 CYP4A22 284541 broad.mit.edu 37 1 47610317 47610317 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:47610317C>T uc001cqv.1 + 8 1044 c.993C>T c.(991-993)TCC>TCT p.S331S CYP4A22_uc009vyo.2_Silent_p.S331S|CYP4A22_uc009vyp.2_Intron NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, 331 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding skin(2)|ovary(1)|breast(1) 4 GTGGGATCTCCTGGATCCTCT 0.592 ELAVL4 1996 broad.mit.edu 37 1 50666696 50666696 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:50666696G>A uc001csb.2 + 7 1257 c.989G>A c.(988-990)CGT>CAT p.R330H ELAVL4_uc001cry.3_Missense_Mutation_p.R319H|ELAVL4_uc001crz.3_Missense_Mutation_p.R316H|ELAVL4_uc001csa.3_Missense_Mutation_p.R333H|ELAVL4_uc001csc.3_Missense_Mutation_p.R316H|ELAVL4_uc010omz.1_Missense_Mutation_p.R321H NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 330 RRM 3. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 AAGGTGATTCGTGACTTCAAC 0.542 DENND2C 163259 broad.mit.edu 37 1 115130565 115130565 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:115130565G>A uc001efd.1 - 19 3142 c.2440C>T c.(2440-2442)CTC>TTC p.L814F DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.L757F NM_198459 NP_940861 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 814 dDENN. skin(3) 3 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AGAGAGTTGAGTGTCACATCT 0.423 TSHB 7252 broad.mit.edu 37 1 115576036 115576036 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:115576036C>T uc001efs.1 + 2 121 c.53C>T c.(52-54)GCG>GTG p.A18V NM_000549 NP_000540 P01222 TSHB_HUMAN thyroid stimulating hormone, beta precursor 18 anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity 0 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) TGTGGGCAAGCGATGTCTTTT 0.383 BCL9 607 broad.mit.edu 37 1 147084944 147084944 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:147084944G>A uc001epq.2 + 5 1056 c.316G>A c.(316-318)GAC>AAC p.D106N BCL9_uc010ozr.1_Intron NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 106 Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) TATTTCCGCCGACTCCTTTGA 0.517 T IGH@|IGL@ B-ALL CD1C 911 broad.mit.edu 37 1 158259915 158259915 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:158259915G>A uc001fru.2 + 1 353 c.61G>A c.(61-63)GCA>ACA p.A21T CD1C_uc001frv.2_5'Flank NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 21 Extracellular (Potential). antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) CAATGCAGACGGTAAGAACAT 0.473 SPTA1 6708 broad.mit.edu 37 1 158650415 158650415 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:158650415C>T uc001fst.1 - 5 835 c.636G>A c.(634-636)GGG>GGA p.G212G NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 212 Spectrin 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CAACAACTCTCCCTTCTTTAG 0.458 NCSTN 23385 broad.mit.edu 37 1 160321051 160321051 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:160321051C>T uc001fvx.2 + 6 746 c.622C>T c.(622-624)CCA>TCA p.P208S NCSTN_uc001fvy.2_Missense_Mutation_p.P188S|NCSTN_uc010pjf.1_Intron|NCSTN_uc001fvz.2_Intron|NCSTN_uc010pjg.1_Intron NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 208 Extracellular (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGGCTCAGCACCAACCTTCCC 0.542 ZBTB41 360023 broad.mit.edu 37 1 197168618 197168618 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:197168618T>C uc001gtx.1 - 1 1055 c.986A>G c.(985-987)AAT>AGT p.N329S ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 TTCTGCATCATTATGATCCTT 0.413 CR2 1380 broad.mit.edu 37 1 207642548 207642548 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:207642548T>C uc001hfw.2 + 5 882 c.788T>C c.(787-789)GTT>GCT p.V263A CR2_uc001hfv.2_Missense_Mutation_p.V263A|CR2_uc009xch.2_Missense_Mutation_p.V263A|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 263 Sushi 4.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 GGACAGGGAGTTGCTTGGACC 0.463 PTPN14 5784 broad.mit.edu 37 1 214556785 214556785 + Missense_Mutation SNP C C T rs146980027 TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:214556785C>T uc001hkk.1 - 13 2684 c.2413G>A c.(2413-2415)GGC>AGC p.G805S PTPN14_uc010pty.1_Missense_Mutation_p.G706S NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 805 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) ATGGATGGGCCGAGAGAGGCC 0.602 HEATR1 55127 broad.mit.edu 37 1 236735824 236735824 + Silent SNP T T C rs149288116 TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:236735824T>C uc001hyd.1 - 26 3719 c.3594A>G c.(3592-3594)GAA>GAG p.E1198E HEATR1_uc009xgh.1_Silent_p.E360E NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 1198 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AACCTCCAACTTCCTGAACAG 0.393 OR1C1 26188 broad.mit.edu 37 1 247920825 247920825 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:247920825C>T uc010pza.1 - 1 884 c.884G>A c.(883-885)AGG>AAG p.R295K NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 295 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CTTCATATCCCTGTTCCTTAG 0.438 OR1C1 26188 broad.mit.edu 37 1 247921329 247921329 + Missense_Mutation SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:247921329C>A uc010pza.1 - 1 380 c.380G>T c.(379-381)TGC>TTC p.C127F NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 127 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TAAGGGGTGGCAAATCGCCAC 0.502 CUBN 8029 broad.mit.edu 37 10 17061890 17061890 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr10:17061890G>A uc001ioo.2 - 28 4162 c.4110C>T c.(4108-4110)CTC>CTT p.L1370L NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1370 CUB 8. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CATCTGTAAGGAGCAGCACTT 0.507 MKX 283078 broad.mit.edu 37 10 28023604 28023604 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr10:28023604G>A uc001ity.3 - 5 844 c.619C>T c.(619-621)CGG>TGG p.R207W MKX_uc001itx.3_Missense_Mutation_p.R207W NM_173576 NP_775847 Q8IYA7 MKX_HUMAN mohawk homeobox 207 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TCACTGGCCCGTGACTCTGGC 0.498 CHAT 1103 broad.mit.edu 37 10 50830161 50830161 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr10:50830161C>T uc001jhz.2 + 5 870 c.717C>T c.(715-717)ATC>ATT p.I239I CHAT_uc001jhv.1_Silent_p.I121I|CHAT_uc001jhx.1_Silent_p.I121I|CHAT_uc001jhy.1_Silent_p.I121I|CHAT_uc001jia.2_Silent_p.I121I|CHAT_uc010qgs.1_Silent_p.I121I NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 239 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CCAGCCTCATCTCTGGTGTAC 0.483 TET1 80312 broad.mit.edu 37 10 70333412 70333412 + Silent SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr10:70333412A>G uc001jok.3 + 2 1822 c.1317A>G c.(1315-1317)CCA>CCG p.P439P NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 439 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 CTCCAAATCCAATTGCTACCT 0.468 P4HA1 5033 broad.mit.edu 37 10 74804763 74804763 + Missense_Mutation SNP G G A rs145054165 by1000genomes TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr10:74804763G>A uc010qka.1 - 10 1458 c.1124C>T c.(1123-1125)ACG>ATG p.T375M P4HA1_uc001jtg.2_Missense_Mutation_p.T375M|P4HA1_uc001jth.2_Intron|P4HA1_uc010qkb.1_Intron|P4HA1_uc001jti.2_Intron NM_001142595 NP_001136067 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha I subunit isoform 2 375 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity ovary(1) 1 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GTAATGTACCGTCTCCAAGTC 0.373 NRG3 10718 broad.mit.edu 37 10 84744956 84744956 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr10:84744956C>T uc001kco.2 + 9 1713 c.1686C>T c.(1684-1686)GAC>GAT p.D562D NRG3_uc010qlz.1_Silent_p.D561D|NRG3_uc001kcp.2_Silent_p.D365D|NRG3_uc001kcq.2_Silent_p.D212D|NRG3_uc001kcr.2_Silent_p.D236D NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 586 Cytoplasmic (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) AGCAAAAGGACCTGGTGGGCT 0.443 LRIT2 340745 broad.mit.edu 37 10 85982145 85982145 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr10:85982145G>A uc001kcy.2 - 3 1192 c.1184C>T c.(1183-1185)ACC>ATC p.T395I LRIT2_uc010qmc.1_Missense_Mutation_p.T405I NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN leucine rich repeat containing 22 precursor 395 Fibronectin type-III. integral to membrane ovary(2) 2 AATGTAGAGGGTGAACCACTC 0.522 GRID1 2894 broad.mit.edu 37 10 87615903 87615903 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr10:87615903G>A uc001kdl.1 - 7 1097 c.996C>T c.(994-996)AAC>AAT p.N332N GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 332 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TGTGAAAGGCGTTGGCCAGCA 0.517 Multiple Myeloma(13;0.14) HPSE2 60495 broad.mit.edu 37 10 100503772 100503772 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr10:100503772C>T uc001kpn.1 - 4 712 c.652G>A c.(652-654)GGA>AGA p.G218R HPSE2_uc009xwc.1_Missense_Mutation_p.G208R|HPSE2_uc001kpo.1_Intron|HPSE2_uc009xwd.1_Intron NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 218 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) AGGTGGAGTCCAGAGCAATCA 0.433 SEMA4G 57715 broad.mit.edu 37 10 102740027 102740027 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr10:102740027G>A uc010qpt.1 + 11 1720 c.1277G>A c.(1276-1278)CGC>CAC p.R426H SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Missense_Mutation_p.R426H|SEMA4G_uc001krx.2_Missense_Mutation_p.R426H|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron NM_017893 NP_060363 Q9NTN9 SEM4G_HUMAN semaphorin 4G 426 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(1) 1 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CGCAACATACGCTACACACAC 0.582 PSD 5662 broad.mit.edu 37 10 104176654 104176654 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr10:104176654G>A uc001kvg.1 - 2 669 c.142C>T c.(142-144)CGG>TGG p.R48W PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.R48W|PSD_uc001kvi.1_Missense_Mutation_p.R48W|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 48 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GCCACTCGCCGTAGCAAGGAG 0.692 SCUBE2 57758 broad.mit.edu 37 11 9047254 9047254 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr11:9047254T>C uc001mhh.1 - 20 2842 c.2762A>G c.(2761-2763)TAT>TGT p.Y921C SCUBE2_uc001mhi.1_Missense_Mutation_p.Y893C|SCUBE2_uc001mhj.1_Missense_Mutation_p.Y729C NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN CEGP1 protein precursor 921 CUB. extracellular region calcium ion binding ovary(1)|skin(1) 2 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) CTTACCATCATATGTCACGTA 0.532 KCNA4 3739 broad.mit.edu 37 11 30033593 30033593 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr11:30033593G>A uc001msk.2 - 2 1785 c.633C>T c.(631-633)TAC>TAT p.Y211Y NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 211 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 AAGGGTCAAAGTACTGAGTCC 0.473 MYBPC3 4607 broad.mit.edu 37 11 47361309 47361309 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr11:47361309G>A uc001nfa.3 - 20 2015 c.1960C>T c.(1960-1962)CGC>TGC p.R654C MYBPC3_uc010rhl.1_RNA NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 653 Ig-like C2-type 5. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) TCTGGTATGCGGCCTGGGCAG 0.567 OR4C46 119749 broad.mit.edu 37 11 51515980 51515980 + Missense_Mutation SNP A A T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr11:51515980A>T uc010ric.1 + 1 699 c.699A>T c.(697-699)AAA>AAT p.K233N NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CAAGGCACAAAGCCCTCTCCA 0.473 OR5W2 390148 broad.mit.edu 37 11 55681708 55681708 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr11:55681708C>T uc010rir.1 - 1 351 c.351G>A c.(349-351)GTG>GTA p.V117V NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CAAAGGCCATCACTGACAGCA 0.458 OR5M1 390168 broad.mit.edu 37 11 56380614 56380614 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr11:56380614C>T uc001nja.1 - 1 365 c.365G>A c.(364-366)CGC>CAC p.R122H NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 GGCTACATAGCGATCCAATGC 0.463 TMEM132A 54972 broad.mit.edu 37 11 60702763 60702763 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr11:60702763G>A uc001nqj.2 + 10 2069 c.1876G>A c.(1876-1878)GCG>ACG p.A626T TMEM132A_uc001nqi.2_Missense_Mutation_p.A627T|TMEM132A_uc001nqm.2_5'UTR NM_178031 NP_821174 Q24JP5 T132A_HUMAN transmembrane protein 132A isoform b 626 Binds to HSPA5/GRP78 (By similarity).|Extracellular (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane skin(1) 1 GGGGGAGCAGGCGCTGGCTGT 0.662 AHNAK 79026 broad.mit.edu 37 11 62293791 62293791 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr11:62293791T>C uc001ntl.2 - 5 8398 c.8098A>G c.(8098-8100)ATG>GTG p.M2700V AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2700 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TTGATATTCATCTCTGGCATC 0.453 AHNAK 79026 broad.mit.edu 37 11 62297323 62297323 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr11:62297323G>A uc001ntl.2 - 5 4866 c.4566C>T c.(4564-4566)GGC>GGT p.G1522G AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1522 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CTCCTTTAAAGCCAGGCATGC 0.507 GPR152 390212 broad.mit.edu 37 11 67219257 67219257 + Silent SNP G G A rs144851549 TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr11:67219257G>A uc001olm.2 - 1 944 c.939C>T c.(937-939)TTC>TTT p.F313F uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank NM_206997 NP_996880 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 313 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GAGCTGCCGCGAAGGACGAGA 0.652 CLNS1A 1207 broad.mit.edu 37 11 77340917 77340917 + Silent SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr11:77340917T>C uc001oyk.2 - 2 245 c.153A>G c.(151-153)GGA>GGG p.G51G CLNS1A_uc001oyl.2_Silent_p.G51G NM_001293 NP_001284 P54105 ICLN_HUMAN chloride channel, nucleotide-sensitive, 1A 51 blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly cytoskeleton|cytosol|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19) Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) AGAATCCTAATCCAGAGCCAT 0.383 POU2F3 25833 broad.mit.edu 37 11 120168972 120168972 + Splice_Site SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr11:120168972A>G uc001pxc.2 + 4 235 c.133_splice c.e4-2 p.I45_splice POU2F3_uc010rzk.1_Splice_Site|POU2F3_uc010rzl.1_Splice_Site NM_014352 NP_055167 Q9UKI9 PO2F3_HUMAN POU transcription factor negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding ovary(1)|skin(1) 2 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) TTCCACTTGCAGATTAAAACC 0.547 PANX3 116337 broad.mit.edu 37 11 124481615 124481615 + Missense_Mutation SNP G G A rs142639637 byFrequency TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr11:124481615G>A uc001qah.2 + 1 163 c.163G>A c.(163-165)GCC>ACC p.A55T NM_052959 NP_443191 Q96QZ0 PANX3_HUMAN pannexin 3 55 Helical; (Potential). protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) CCTGGCATTCGCCCAGGAGTT 0.587 CLEC4E 26253 broad.mit.edu 37 12 8689759 8689759 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr12:8689759G>A uc001quo.1 - 4 489 c.324C>T c.(322-324)TGC>TGT p.C108C NM_014358 NP_055173 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 108 C-type lectin.|Extracellular (Potential). integral to membrane sugar binding central_nervous_system(1) 1 Lung SC(5;0.184) CCATGGCTGAGCAGTTCTTTA 0.478 RECQL 5965 broad.mit.edu 37 12 21644547 21644547 + Silent SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr12:21644547T>C uc001rex.2 - 4 468 c.120A>G c.(118-120)AAA>AAG p.K40K RECQL_uc001rey.2_Silent_p.K40K NM_032941 NP_116559 P46063 RECQ1_HUMAN RecQ protein-like 40 DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding ovary(1)|lung(1) 2 TTGTCAGGACTTTTTTTTTCT 0.383 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function CCNT1 904 broad.mit.edu 37 12 49087819 49087819 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr12:49087819C>T uc001rse.1 - 9 1501 c.1178G>A c.(1177-1179)CGC>CAC p.R393H LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.R108H NM_001240 NP_001231 O60563 CCNT1_HUMAN cyclin T1 393 Potential. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding ovary(3)|lung(1)|breast(1)|skin(1) 6 ATGCTTCGCGCGGTATTCTTT 0.448 SDR9C7 121214 broad.mit.edu 37 12 57317711 57317711 + Missense_Mutation SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr12:57317711G>T uc010sqw.1 - 4 848 c.848C>A c.(847-849)GCC>GAC p.A283D NM_148897 NP_683695 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, 283 cytoplasm binding|oxidoreductase activity central_nervous_system(1) 1 GAGGAGTTTGGCATCCAGGCC 0.557 GRIP1 23426 broad.mit.edu 37 12 66765682 66765682 + Missense_Mutation SNP A A T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr12:66765682A>T uc001stk.2 - 22 2889 c.2648T>A c.(2647-2649)ATG>AAG p.M883K GRIP1_uc010sta.1_Missense_Mutation_p.M827K|GRIP1_uc001stj.2_Missense_Mutation_p.M650K|GRIP1_uc001stl.1_Missense_Mutation_p.M760K|GRIP1_uc001stm.2_Missense_Mutation_p.M868K NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 935 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) ATTCAAACTCATCGTGCTCCC 0.517 CAND1 55832 broad.mit.edu 37 12 67696319 67696319 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr12:67696319G>A uc001stn.2 + 8 1654 c.1217G>A c.(1216-1218)CGT>CAT p.R406H CAND1_uc001sto.2_Missense_Mutation_p.R84H NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 406 HEAT 9. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) AAGCAAACTCGTCCTGTACAA 0.413 GALNT4 8693 broad.mit.edu 37 12 89917407 89917407 + Missense_Mutation SNP G G C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr12:89917407G>C uc001tbd.2 - 1 1129 c.920C>G c.(919-921)CCT>CGT p.P307R POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Missense_Mutation_p.P304R|GALNT4_uc010suo.1_5'UTR NM_003774 NP_003765 Q8N4A0 GALT4_HUMAN polypeptide N-acetylgalactosaminyltransferase 4 307 Catalytic subdomain B.|Lumenal (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 AGCCATGGTAGGTGATCTGAT 0.468 NUAK1 9891 broad.mit.edu 37 12 106461416 106461416 + Missense_Mutation SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr12:106461416C>A uc001tlj.1 - 7 2530 c.1150G>T c.(1150-1152)GCA>TCA p.A384S NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 384 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 TCAGGCACTGCATCCTGACCA 0.547 WSCD2 9671 broad.mit.edu 37 12 108634186 108634186 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr12:108634186G>A uc001tms.2 + 8 1954 c.1210G>A c.(1210-1212)GGC>AGC p.G404S WSCD2_uc001tmt.2_Missense_Mutation_p.G404S|WSCD2_uc001tmu.2_Missense_Mutation_p.G152S NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 404 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 GCACGAAAGCGGCCAGAAAGA 0.607 UBE3B 89910 broad.mit.edu 37 12 109945375 109945375 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr12:109945375C>T uc001top.2 + 15 2060 c.1457C>T c.(1456-1458)ACT>ATT p.T486I UBE3B_uc001toq.2_Missense_Mutation_p.T486I|UBE3B_uc001tos.2_5'Flank|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.T486I NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 486 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 CCAGGTCTCACTTACCTTGAT 0.478 ATXN2 6311 broad.mit.edu 37 12 111908438 111908438 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr12:111908438G>A uc001tsj.2 - 19 3269 c.3107C>T c.(3106-3108)ACG>ATG p.T1036M ATXN2_uc001tsh.2_Missense_Mutation_p.T771M|ATXN2_uc001tsi.2_Missense_Mutation_p.T747M|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.T224M|ATXN2_uc001tsl.1_Missense_Mutation_p.T55M NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 1036 Pro-rich. cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 AACATATTGCGTGGAGTAAGC 0.557 SDSL 113675 broad.mit.edu 37 12 113866986 113866986 + Missense_Mutation SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr12:113866986C>A uc001tvi.2 + 5 446 c.236C>A c.(235-237)GCT>GAT p.A79D SDSL_uc009zwh.2_Missense_Mutation_p.A79D NM_138432 NP_612441 Q96GA7 SDSL_HUMAN serine dehydratase-like 79 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) GGCATCGCTGCTGCCTATGCT 0.632 GCN1L1 10985 broad.mit.edu 37 12 120621399 120621399 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr12:120621399C>T uc001txo.2 - 5 412 c.399G>A c.(397-399)AAG>AAA p.K133K NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 133 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCCTTGTCGCTTGGCTCTCG 0.552 ULK1 8408 broad.mit.edu 37 12 132396496 132396496 + Missense_Mutation SNP G G A rs138390533 TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr12:132396496G>A uc001uje.2 + 13 1226 c.958G>A c.(958-960)GAG>AAG p.E320K NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 320 Interaction with GABARAP and GABARAPL2. autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) GTCCCTGGGCGAGATGCAGCA 0.647 WASF3 10810 broad.mit.edu 37 13 27255334 27255334 + Missense_Mutation SNP G G T rs146594472 TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr13:27255334G>T uc001uqv.2 + 8 1085 c.860G>T c.(859-861)CGG>CTG p.R287L WASF3_uc001uqw.2_Missense_Mutation_p.R284L NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 287 actin filament polymerization cytoplasm|cytoskeleton actin binding pancreas(1) 1 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CATGAGTACCGGCCCCCATCT 0.692 WASF3 10810 broad.mit.edu 37 13 27256945 27256945 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr13:27256945G>A uc001uqv.2 + 9 1410 c.1185G>A c.(1183-1185)CCG>CCA p.P395P WASF3_uc001uqw.2_Silent_p.P392P NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 395 Poly-Pro. actin filament polymerization cytoplasm|cytoskeleton actin binding pancreas(1) 1 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) TCACAGCCCCGCCACCCCCGG 0.701 SLITRK6 84189 broad.mit.edu 37 13 86368839 86368839 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr13:86368839G>A uc001vll.1 - 2 2264 c.1805C>T c.(1804-1806)ACG>ATG p.T602M SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 602 Extracellular (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) CACAGCGTCCGTAAGAGATCG 0.423 MYH7 4625 broad.mit.edu 37 14 23887536 23887536 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr14:23887536G>A uc001wjx.2 - 30 4158 c.4052C>T c.(4051-4053)ACG>ATG p.T1351M MIR208B_hsa-mir-208b|MI0005570_5'Flank NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1351 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTTGGCCTCCGTCTCCTCCTC 0.672 RDH12 145226 broad.mit.edu 37 14 68191269 68191269 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr14:68191269G>A uc001xjz.3 + 4 472 c.148G>A c.(148-150)GGC>AGC p.G50S NM_152443 NP_689656 Q96NR8 RDH12_HUMAN retinol dehydrogenase 12 50 NADP (By similarity). photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity ovary(1) 1 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) CGCCAACACGGGCATTGGCAA 0.557 KIAA0317 9870 broad.mit.edu 37 14 75140795 75140795 + Missense_Mutation SNP A A C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr14:75140795A>C uc001xqb.2 - 9 1605 c.1100T>G c.(1099-1101)TTC>TGC p.F367C KIAA0317_uc010tut.1_Missense_Mutation_p.F206C|KIAA0317_uc001xqc.2_Missense_Mutation_p.F367C NM_001039479 NP_001034568 O15033 K0317_HUMAN hypothetical protein LOC9870 367 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|intracellular ubiquitin-protein ligase activity ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00404) CTTCAGGTAGAACTCCTTCAC 0.413 TMEM63C 57156 broad.mit.edu 37 14 77710781 77710781 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr14:77710781C>T uc001xtf.2 + 16 1643 c.1431C>T c.(1429-1431)CTC>CTT p.L477L TMEM63C_uc010asq.1_Silent_p.L477L NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 477 Helical; (Potential). integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) CCGCCTTCCTCGAGGCCCACT 0.612 NRXN3 9369 broad.mit.edu 37 14 79175849 79175849 + Missense_Mutation SNP A A T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr14:79175849A>T uc001xun.2 + 4 883 c.392A>T c.(391-393)AAA>ATA p.K131I NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.K265I NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 504 Extracellular (Potential).|Laminin G-like 3. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) AAGAATACAAAAGTAGACTTC 0.512 MKRN3 7681 broad.mit.edu 37 15 23812235 23812235 + Missense_Mutation SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr15:23812235G>T uc001ywh.3 + 1 1782 c.1306G>T c.(1306-1308)GGG>TGG p.G436W MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Intron NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 436 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GCCAGGTGGTGGGTCATTCAG 0.527 CASC5 57082 broad.mit.edu 37 15 40914746 40914746 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr15:40914746A>G uc010bbs.1 + 11 2523 c.2362A>G c.(2362-2364)ATG>GTG p.M788V CASC5_uc010ucq.1_Missense_Mutation_p.M612V|CASC5_uc001zme.2_Missense_Mutation_p.M762V|CASC5_uc010bbt.1_Missense_Mutation_p.M762V NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 788 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) AGAGCAAAATATGGATCTAAC 0.403 SPATA5L1 79029 broad.mit.edu 37 15 45697549 45697549 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr15:45697549G>A uc001zve.2 + 2 1230 c.1121G>A c.(1120-1122)AGA>AAA p.R374K SPATA5L1_uc001zvf.2_RNA NM_024063 NP_076968 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 374 cytoplasm ATP binding|nucleoside-triphosphatase activity ovary(3)|skin(1) 4 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) CTTAAACAAAGAAAGGAAATT 0.358 AP4E1 23431 broad.mit.edu 37 15 51250863 51250863 + Missense_Mutation SNP A A T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr15:51250863A>T uc001zyx.1 + 14 1753 c.1723A>T c.(1723-1725)ATC>TTC p.I575F NM_007347 NP_031373 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 575 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity 0 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TGAGAGATTAATCCATGAATT 0.368 ZNF609 23060 broad.mit.edu 37 15 64968058 64968058 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr15:64968058G>A uc002ann.2 + 4 3005 c.3005G>A c.(3004-3006)CGG>CAG p.R1002Q NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 1002 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 ACGGCTTACCGGCAGCAGTAC 0.567 PML 5371 broad.mit.edu 37 15 74290464 74290464 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr15:74290464G>A uc002awv.2 + 2 389 c.249G>A c.(247-249)GCG>GCA p.A83A PML_uc002awm.2_Silent_p.A83A|PML_uc002awl.2_Silent_p.A83A|PML_uc002awj.1_Silent_p.A83A|PML_uc002awk.2_Silent_p.A83A|PML_uc002awn.2_Silent_p.A83A|PML_uc002awo.2_Silent_p.A83A|PML_uc002awp.2_Silent_p.A83A|PML_uc002awq.2_Silent_p.A83A|PML_uc002awr.2_Silent_p.A83A|PML_uc002aws.2_Silent_p.A83A|PML_uc002awt.2_Silent_p.A83A|PML_uc002awu.2_Silent_p.A83A|PML_uc010ule.1_Intron|PML_uc002aww.1_5'UTR NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 83 RING-type. cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding central_nervous_system(2)|kidney(2)|breast(1) 5 GCCTGGAGGCGTCGGGCATGC 0.637 T RARA|PAX5 APL|ALL CPEB1 64506 broad.mit.edu 37 15 83218340 83218340 + Silent SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr15:83218340G>T uc002bit.2 - 9 1601 c.1464C>A c.(1462-1464)CCC>CCA p.P488P CPEB1_uc002biq.2_Silent_p.P348P|CPEB1_uc002bir.2_Silent_p.P353P|CPEB1_uc002bis.2_Silent_p.P348P|CPEB1_uc010uod.1_Silent_p.P197P|CPEB1_uc010uoe.1_Silent_p.P426P|CPEB1_uc002biu.2_Silent_p.P450P|CPEB1_uc010uof.1_Silent_p.P348P|CPEB1_uc002biv.2_Silent_p.P423P|CPEB1_uc002bip.2_Silent_p.P197P NM_001079533 NP_001073001 Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding 428 Necessary for stress granule assembly and correct localization in dcp1 bodies. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(143;0.229) CCGTCCTGCTGGGGTCAAGCC 0.557 CACNA1H 8912 broad.mit.edu 37 16 1245065 1245065 + Missense_Mutation SNP G G C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr16:1245065G>C uc002cks.2 + 3 641 c.393G>C c.(391-393)GAG>GAC p.E131D CACNA1H_uc002ckt.2_Missense_Mutation_p.E131D NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 131 Extracellular (Potential).|I. aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GCGGCTCCGAGCGCTGCAACA 0.343 OREG0023543 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CREBBP 1387 broad.mit.edu 37 16 3786141 3786141 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr16:3786141C>T uc002cvv.2 - 28 4828 c.4624G>A c.(4624-4626)GGT>AGT p.G1542S CREBBP_uc002cvw.2_Missense_Mutation_p.G1504S NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1542 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CAGAAATCACCTTCAAAATAG 0.463 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome GLIS2 84662 broad.mit.edu 37 16 4384894 4384894 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr16:4384894C>T uc002cwc.1 + 3 495 c.438C>T c.(436-438)GCC>GCT p.A146A NM_032575 NP_115964 Q9BZE0 GLIS2_HUMAN GLIS family zinc finger 2 146 Interaction with CTNND1 (By similarity). cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development cytoplasm|nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding 0 ACCTGCCTGCCTCCTCCTTCC 0.667 LONP2 83752 broad.mit.edu 37 16 48385682 48385682 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr16:48385682C>T uc002efi.1 + 15 2617 c.2528C>T c.(2527-2529)ACC>ATC p.T843I LONP2_uc002efj.1_Missense_Mutation_p.T799I NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 843 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 ACTGTCAAGACCAGACCTGGT 0.398 ZNF423 23090 broad.mit.edu 37 16 49670153 49670153 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr16:49670153C>T uc002efs.2 - 5 3208 c.2910G>A c.(2908-2910)TCG>TCA p.S970S ZNF423_uc010vgn.1_Silent_p.S853S NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 970 C2H2-type 23. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GCGTCAGCAGCGAAGGGAAGC 0.612 TOX3 27324 broad.mit.edu 37 16 52473731 52473731 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr16:52473731G>A uc002egw.2 - 7 1308 c.1137C>T c.(1135-1137)CTC>CTT p.L379L TOX3_uc010vgt.1_Silent_p.L374L|TOX3_uc010vgu.1_Silent_p.L379L NM_001080430 NP_001073899 O15405 TOX3_HUMAN TOX high mobility group box family member 3 379 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity 0 TTGACCTAGGGAGGGATTGCT 0.522 IRX5 10265 broad.mit.edu 37 16 54966510 54966510 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr16:54966510G>A uc002ehv.2 + 2 350 c.350G>A c.(349-351)CGG>CAG p.R117Q IRX5_uc010cca.1_Missense_Mutation_p.R169Q|IRX5_uc002ehw.2_Missense_Mutation_p.R51Q NM_005853 NP_005844 P78411 IRX5_HUMAN iroquois homeobox protein 5 117 Homeobox; TALE-type. response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding 0 CCAGCGTACCGGAAGAACGCC 0.657 DVL2 1856 broad.mit.edu 37 17 7130478 7130478 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr17:7130478C>T uc002gez.1 - 13 1756 c.1474G>A c.(1474-1476)GTC>ATC p.V492I DVL2_uc010vtr.1_Missense_Mutation_p.V486I NM_004422 NP_004413 O14641 DVL2_HUMAN dishevelled 2 492 DEP. canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity lung(1)|kidney(1) 2 ATCTTGTTGACGGTGTGTCGG 0.592 NCOR1 9611 broad.mit.edu 37 17 15973507 15973507 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr17:15973507G>A uc002gpo.2 - 31 4725 c.4485C>T c.(4483-4485)GGC>GGT p.G1495G NCOR1_uc002gpn.2_Silent_p.G1511G|NCOR1_uc002gpp.1_Silent_p.G1402G|NCOR1_uc002gpm.2_5'Flank|NCOR1_uc010vwb.1_Silent_p.G79G|NCOR1_uc010coy.2_Silent_p.G403G|NCOR1_uc010vwc.1_Silent_p.G306G NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 1495 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TCATGGGTGAGCCTCTGGACA 0.413 EFCAB5 374786 broad.mit.edu 37 17 28419089 28419089 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr17:28419089C>T uc002het.2 + 21 4330 c.4138C>T c.(4138-4140)CGT>TGT p.R1380C EFCAB5_uc010cse.2_Missense_Mutation_p.R1135C|EFCAB5_uc010csf.2_Intron NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 1380 calcium ion binding ovary(1)|skin(1) 2 GAAACTAGTGCGTGACATCCT 0.388 ERBB2 2064 broad.mit.edu 37 17 37880261 37880261 + Missense_Mutation SNP G G T rs121913468 TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr17:37880261G>T uc002hso.2 + 19 2543 c.2305G>T c.(2305-2307)GAC>TAC p.D769Y ERBB2_uc002hsm.2_Missense_Mutation_p.D739Y|ERBB2_uc010cwa.2_Missense_Mutation_p.D754Y|ERBB2_uc002hsp.2_Missense_Mutation_p.D572Y|ERBB2_uc010cwb.2_Missense_Mutation_p.D769Y|ERBB2_uc010wek.1_Missense_Mutation_p.D493Y NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 769 Cytoplasmic (Potential).|Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.D769H(3) lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) AGAAATCTTAGACGTAAGCCC 0.532 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) CACNA1G 8913 broad.mit.edu 37 17 48684262 48684262 + Missense_Mutation SNP C C G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr17:48684262C>G uc002irk.1 + 24 4796 c.4424C>G c.(4423-4425)GCC>GGC p.A1475G CACNA1G_uc002irj.1_Missense_Mutation_p.A1452G|CACNA1G_uc002irl.1_Missense_Mutation_p.A1452G|CACNA1G_uc002irm.1_Missense_Mutation_p.A1452G|CACNA1G_uc002irn.1_Missense_Mutation_p.A1452G|CACNA1G_uc002iro.1_Missense_Mutation_p.A1452G|CACNA1G_uc002irp.1_Missense_Mutation_p.A1475G|CACNA1G_uc002irq.1_Missense_Mutation_p.A1452G|CACNA1G_uc002irr.1_Missense_Mutation_p.A1475G|CACNA1G_uc002irs.1_Missense_Mutation_p.A1475G|CACNA1G_uc002irt.1_Missense_Mutation_p.A1475G|CACNA1G_uc002irv.1_Missense_Mutation_p.A1475G|CACNA1G_uc002irw.1_Missense_Mutation_p.A1452G|CACNA1G_uc002iru.1_Missense_Mutation_p.A1452G|CACNA1G_uc002irx.1_Missense_Mutation_p.A1388G|CACNA1G_uc002iry.1_Missense_Mutation_p.A1388G|CACNA1G_uc002irz.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isa.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isb.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isc.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isd.1_Missense_Mutation_p.A1388G|CACNA1G_uc002ise.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isf.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isg.1_Missense_Mutation_p.A1388G|CACNA1G_uc002ish.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isi.1_Missense_Mutation_p.A1365G|CACNA1G_uc002isj.2_Missense_Mutation_p.A199G NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1475 Extracellular (Potential).|III. axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCCCATCAGGCCCTGATGTCC 0.562 DNAI2 64446 broad.mit.edu 37 17 72305439 72305439 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr17:72305439C>T uc002jkf.2 + 10 1358 c.1259C>T c.(1258-1260)CCG>CTG p.P420L DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_Missense_Mutation_p.R99Q|DNAI2_uc002jki.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 420 WD 5. cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 CCCGTGAGGCCGACCGTTTTC 0.572 Kartagener_syndrome RECQL5 9400 broad.mit.edu 37 17 73626708 73626708 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr17:73626708G>A uc010dgl.2 - 13 1865 c.1709C>T c.(1708-1710)ACC>ATC p.T570I RECQL5_uc010dgk.2_Missense_Mutation_p.T543I|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 570 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CTCATCAGCGGTACGTGTTGA 0.627 Other_identified_genes_with_known_or_suspected_DNA_repair_function FOXJ1 2302 broad.mit.edu 37 17 74134139 74134139 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr17:74134139G>A uc002jqw.2 - 2 651 c.561C>T c.(559-561)GAC>GAT p.D187D FOXJ1_uc002jqx.2_Silent_p.D187D|uc002jqy.1_5'Flank NM_001454 NP_001445 Q92949 FOXJ1_HUMAN forkhead box J1 187 Fork-head. actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding pancreas(1) 1 LUSC - Lung squamous cell carcinoma(166;0.187) TGCCTGGTTCGTCCTTCTCCC 0.597 HGS 9146 broad.mit.edu 37 17 79660574 79660574 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr17:79660574C>T uc002kbg.2 + 9 781 c.704C>T c.(703-705)CCC>CTC p.P235L NM_004712 NP_004703 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine 235 Interaction with SNX1 (By similarity). cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) GAGCTGCCCCCCGAGTACCTG 0.687 EPB41L3 23136 broad.mit.edu 37 18 5397321 5397321 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr18:5397321C>T uc002kmt.1 - 18 2663 c.2577G>A c.(2575-2577)GAG>GAA p.E859E EPB41L3_uc010wzh.1_Silent_p.E690E|EPB41L3_uc002kmu.1_Silent_p.E637E|EPB41L3_uc010dkq.1_Silent_p.E528E|EPB41L3_uc002kms.1_Silent_p.E94E|EPB41L3_uc010wze.1_Silent_p.E164E|EPB41L3_uc010wzf.1_Silent_p.E156E|EPB41L3_uc010wzg.1_Silent_p.E131E|EPB41L3_uc010dkr.2_Silent_p.E251E NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 859 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 CACGCCGCTCCTCCACCAACA 0.602 ROCK1 6093 broad.mit.edu 37 18 18586552 18586552 + Nonsense_Mutation SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr18:18586552C>A uc002kte.2 - 16 2586 c.1645G>T c.(1645-1647)GAA>TAA p.E549* NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 549 Interaction with FHOD1.|Potential. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) TCATTGGCTTCTTCTAGCTAT 0.333 CDH20 28316 broad.mit.edu 37 18 59195252 59195252 + Missense_Mutation SNP A A C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr18:59195252A>C uc010dps.1 + 6 1082 c.1070A>C c.(1069-1071)AAT>ACT p.N357T CDH20_uc002lif.2_Missense_Mutation_p.N351T NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 357 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) GAGGGAGCCAATCCTCACCTA 0.473 SERPINB5 5268 broad.mit.edu 37 18 61170871 61170871 + Missense_Mutation SNP G G C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr18:61170871G>C uc002liz.3 + 7 1186 c.1044G>C c.(1042-1044)TTG>TTC p.L348F NM_002639 NP_002630 P36952 SPB5_HUMAN serine (or cysteine) proteinase inhibitor, clade 348 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity ovary(1) 1 AGGATGAATTGAATGCTGACC 0.413 ADNP2 22850 broad.mit.edu 37 18 77893967 77893967 + Missense_Mutation SNP C C G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr18:77893967C>G uc002lnw.2 + 4 1126 c.671C>G c.(670-672)GCC>GGC p.A224G NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 224 C2H2-type 2. cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|breast(3)|central_nervous_system(1) 8 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) AACGCCAATGCCAGCAGCCAG 0.398 MAST1 22983 broad.mit.edu 37 19 12975973 12975973 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr19:12975973G>A uc002mvm.2 + 14 1747 c.1619G>A c.(1618-1620)CGA>CAA p.R540Q NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 540 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 AAGGACGCCCGAGAGTTCCTG 0.602 BRD4 23476 broad.mit.edu 37 19 15354170 15354170 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr19:15354170G>A uc002nar.2 - 14 2932 c.2710C>T c.(2710-2712)CCC>TCC p.P904S NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 904 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) TGGGCCATGGGGGGCTGTGGG 0.677 T NUT|C15orf55 lethal midline carcinoma of young people PIK3R2 5296 broad.mit.edu 37 19 18273827 18273827 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr19:18273827A>G uc002nia.1 + 10 1672 c.1160A>G c.(1159-1161)TAT>TGT p.Y387C PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 387 SH2 1. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 GATGGGCACTATGGCTTCTCA 0.597 KIAA1683 80726 broad.mit.edu 37 19 18378193 18378193 + Nonsense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr19:18378193G>A uc002nin.2 - 3 373 c.157C>T c.(157-159)CAG>TAG p.Q53* KIAA1683_uc010ebn.2_Nonsense_Mutation_p.Q53*|KIAA1683_uc010xqe.1_Nonsense_Mutation_p.Q7* NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 53 mitochondrion ovary(2) 2 TGCTGGGGCTGTGGAGGCGCT 0.652 FFAR1 2864 broad.mit.edu 37 19 35842694 35842694 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr19:35842694C>T uc002nzc.2 + 1 250 c.240C>T c.(238-240)CCC>CCT p.P80P NM_005303 NP_005294 O14842 FFAR1_HUMAN free fatty acid receptor 1 80 Extracellular (Potential). energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding central_nervous_system(1) 1 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) Icosapent(DB00159) CGCTGTGCCCCGTCTTCGCGG 0.706 LRFN3 79414 broad.mit.edu 37 19 36431007 36431007 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr19:36431007G>A uc002oco.2 + 2 1132 c.680G>A c.(679-681)CGC>CAC p.R227H NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III 227 Extracellular (Potential). cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane 0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CTCTTCTCCCGCCTGCCCCTG 0.701 ZNF345 25850 broad.mit.edu 37 19 37368219 37368219 + Silent SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr19:37368219C>A uc002oex.2 + 3 865 c.487C>A c.(487-489)CGA>AGA p.R163R ZNF345_uc002oey.3_Silent_p.R163R|ZNF345_uc002oez.2_Intron NM_003419 NP_003410 Q14585 ZN345_HUMAN zinc finger protein 345 163 C2H2-type 4. negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGGCCTTATTCGACATCAGAT 0.423 MEGF8 1954 broad.mit.edu 37 19 42873066 42873066 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr19:42873066G>A uc002otl.3 + 36 6987 c.6352G>A c.(6352-6354)GGG>AGG p.G2118R MEGF8_uc002otm.3_Missense_Mutation_p.G1726R|MEGF8_uc002otn.3_5'Flank NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2185 Extracellular (Potential).|EGF-like 5. integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) GTGTGCAAACGGGCACCACGA 0.622 SIGLEC8 27181 broad.mit.edu 37 19 51958738 51958738 + Nonsense_Mutation SNP G G A rs141833256 TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr19:51958738G>A uc002pwt.2 - 4 1052 c.985C>T c.(985-987)CGA>TGA p.R329* SIGLEC8_uc010yda.1_Nonsense_Mutation_p.R220*|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.R236* NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 329 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion integral to membrane sugar binding|transmembrane receptor activity p.R329Q(1) ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TTCTGAGCTCGGCAGGTGAAT 0.637 FPR3 2359 broad.mit.edu 37 19 52327945 52327945 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr19:52327945G>A uc002pxt.1 + 2 1128 c.944G>A c.(943-945)CGC>CAC p.R315H NM_002030 NP_002021 P25089 FPR3_HUMAN formyl peptide receptor-like 2 315 Cytoplasmic (Potential). cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity lung(4)|breast(1)|skin(1) 6 AGACTGATTCGCTCTTTGCCC 0.512 EIF2B4 8890 broad.mit.edu 37 2 27592028 27592028 + Missense_Mutation SNP C C T rs146262118 TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr2:27592028C>T uc002rkb.2 - 4 406 c.263G>A c.(262-264)CGG>CAG p.R88Q EIF2B4_uc002rjz.2_Missense_Mutation_p.R108Q|EIF2B4_uc002rka.2_Missense_Mutation_p.R73Q|EIF2B4_uc002rkc.2_Missense_Mutation_p.R87Q|EIF2B4_uc002rkd.2_5'UTR|EIF2B4_uc002rke.2_Missense_Mutation_p.R57Q|EIF2B4_uc002rkf.1_Missense_Mutation_p.R57Q|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc010ylq.1_5'Flank NM_001034116 NP_001029288 Q9UI10 EI2BD_HUMAN eukaryotic translation initiation factor 2B, 88 myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex translation initiation factor activity|translation initiation factor binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AACTTTCTCCCGAGGAGTGCC 0.547 FAM179A 165186 broad.mit.edu 37 2 29274846 29274846 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr2:29274846C>T uc010ezl.2 + 20 3298 c.2947C>T c.(2947-2949)CTC>TTC p.L983F FAM179A_uc010ymm.1_Missense_Mutation_p.L928F|FAM179A_uc002rmr.3_Missense_Mutation_p.L510F NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN hypothetical protein LOC165186 983 binding ovary(3)|skin(1) 4 CCTCAAGACGCTCCAGGAACT 0.637 PRKCE 5581 broad.mit.edu 37 2 46203658 46203658 + Missense_Mutation SNP A A T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr2:46203658A>T uc002rut.2 + 3 700 c.503A>T c.(502-504)AAC>ATC p.N168I NM_005400 NP_005391 Q02156 KPCE_HUMAN protein kinase C, epsilon 168 activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1) 10 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) CATCAGGTCAACGGCCACAAG 0.577 MITD1 129531 broad.mit.edu 37 2 99790441 99790441 + Missense_Mutation SNP T T G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr2:99790441T>G uc002szs.1 - 2 238 c.190A>C c.(190-192)AAA>CAA p.K64Q MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.2_Intron NM_138798 NP_620153 Q8WV92 MITD1_HUMAN MIT, microtubule interacting and transport, 64 MIT. protein transport late endosome membrane large_intestine(1)|ovary(1) 2 TTGGAAATTTTTTCTCTGAGA 0.279 NCKAP5 344148 broad.mit.edu 37 2 133542904 133542904 + Missense_Mutation SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr2:133542904G>T uc002ttp.2 - 14 1854 c.1480C>A c.(1480-1482)CAG>AAG p.Q494K NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 494 protein binding 0 CTGCAGCTCTGGTTTGGAACT 0.488 DHRS9 10170 broad.mit.edu 37 2 169938324 169938324 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr2:169938324G>A uc002uep.2 + 5 1737 c.233G>A c.(232-234)CGT>CAT p.R78H DHRS9_uc002ueq.2_Missense_Mutation_p.R78H|DHRS9_uc010zdc.1_Missense_Mutation_p.R138H|DHRS9_uc002uer.1_Missense_Mutation_p.R78H|DHRS9_uc010zdd.1_Missense_Mutation_p.R78H|DHRS9_uc010zde.1_Missense_Mutation_p.R78H NM_005771 NP_005762 Q9BPW9 DHRS9_HUMAN NADP-dependent retinol dehydrogenase/reductase 78 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity 0 GAGAGACTTCGTACTGTGCTT 0.483 CIR1 9541 broad.mit.edu 37 2 175252479 175252479 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr2:175252479T>C uc002uim.2 - 2 194 c.101A>G c.(100-102)TAT>TGT p.Y34C CIR1_uc002uin.2_Translation_Start_Site|CIR1_uc002uio.2_Translation_Start_Site|CIR1_uc002uip.2_Translation_Start_Site NM_004882 NP_004873 Q86X95 CIR1_HUMAN CBF1 interacting corepressor 34 Interaction with RBPJ. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity large_intestine(1) 1 CTTCTTATCATATGATATTTT 0.269 SESTD1 91404 broad.mit.edu 37 2 180008385 180008385 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr2:180008385G>A uc002uni.3 - 9 933 c.783C>T c.(781-783)TAC>TAT p.Y261Y NM_178123 NP_835224 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 261 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) AAACTTCCTGGTAGCGGGTAT 0.423 ASNSD1 54529 broad.mit.edu 37 2 190535319 190535319 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr2:190535319C>T uc002uqt.2 + 6 2233 c.1799C>T c.(1798-1800)CCC>CTC p.P600L NM_019048 NP_061921 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 600 Asparagine synthetase. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) GCTCTTCTGCCCAAACGGGCC 0.418 STAT1 6772 broad.mit.edu 37 2 191864393 191864393 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr2:191864393T>C uc002usj.2 - 7 888 c.500A>G c.(499-501)CAA>CGA p.Q167R STAT1_uc010fse.1_Missense_Mutation_p.Q167R|STAT1_uc002usk.2_Missense_Mutation_p.Q167R|STAT1_uc002usl.2_Missense_Mutation_p.Q169R|STAT1_uc010fsf.1_Missense_Mutation_p.K10E NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 167 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) ATATTCATCTTGTAAATCTTC 0.388 INO80D 54891 broad.mit.edu 37 2 206869610 206869610 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr2:206869610T>C uc002vaz.3 - 11 2971 c.2566A>G c.(2566-2568)ATG>GTG p.M856V NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 856 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 GTAGCTGCCATATTATCACCA 0.527 ZNF343 79175 broad.mit.edu 37 20 2463941 2463941 + Nonsense_Mutation SNP G G A rs143248617 TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr20:2463941G>A uc002wge.1 - 6 2154 c.1666C>T c.(1666-1668)CGA>TGA p.R556* ZNF343_uc010gao.1_Nonsense_Mutation_p.R556*|ZNF343_uc002wgd.1_Nonsense_Mutation_p.R466* NM_024325 NP_077301 Q6P1L6 ZN343_HUMAN zinc finger protein 343 556 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 CTAAAGCCTCGGCCACACTCA 0.517 PLCB4 5332 broad.mit.edu 37 20 9402067 9402067 + Missense_Mutation SNP C C G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr20:9402067C>G uc002wnf.2 + 25 2378 c.2242C>G c.(2242-2244)CTC>GTC p.L748V PLCB4_uc010gbw.1_Missense_Mutation_p.L748V|PLCB4_uc010gbx.2_Missense_Mutation_p.L760V|PLCB4_uc002wne.2_Missense_Mutation_p.L748V|PLCB4_uc002wnh.2_Missense_Mutation_p.L595V NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 748 C2. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 GAATAATGGACTCAATCCAGT 0.403 NFS1 9054 broad.mit.edu 37 20 34278407 34278407 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr20:34278407G>A uc002xdw.1 - 5 553 c.489C>T c.(487-489)TGC>TGT p.C163C NFS1_uc002xdt.1_Silent_p.C103C|NFS1_uc002xdu.1_Silent_p.C103C|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_5'UTR|NFS1_uc010zvl.1_Intron NM_021100 NP_066923 Q9Y697 NFS1_HUMAN NFS1 nitrogen fixation 1 precursor 163 cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process cytosol|mitochondrial matrix|nucleus cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1)|skin(1) 2 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) CCAGTGAACGGCAGGAGTCCA 0.527 RPN2 6185 broad.mit.edu 37 20 35857114 35857114 + Silent SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr20:35857114T>C uc002xgp.2 + 12 1765 c.1461T>C c.(1459-1461)GAT>GAC p.D487D RPN2_uc002xgo.3_Silent_p.D487D|RPN2_uc010gfw.2_Silent_p.D330D|RPN2_uc002xgq.2_Silent_p.D455D NM_002951 NP_002942 P04844 RPN2_HUMAN ribophorin II isoform 1 precursor 487 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding ovary(2)|skin(1) 3 Myeloproliferative disorder(115;0.00878) TCATTGGAGATGCCACTTTGA 0.473 CTNNBL1 56259 broad.mit.edu 37 20 36374931 36374931 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr20:36374931A>G uc010zvw.1 + 4 479 c.388A>G c.(388-390)ATG>GTG p.M130V CTNNBL1_uc002xhh.2_5'UTR|CTNNBL1_uc010zvv.1_Missense_Mutation_p.M103V NM_030877 NP_110517 Q8WYA6 CTBL1_HUMAN beta catenin-like 1 130 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding ovary(2) 2 Myeloproliferative disorder(115;0.00878) GGTGGCCACCATGCCAGACCT 0.502 SLC2A10 81031 broad.mit.edu 37 20 45354009 45354009 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr20:45354009A>G uc002xsl.2 + 2 431 c.334A>G c.(334-336)ATT>GTT p.I112V NM_030777 NP_110404 O95528 GTR10_HUMAN solute carrier family 2 member 10 112 Helical; Name=4; (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) TGGCTTCGCCATTTCCCTCTC 0.657 KCNB1 3745 broad.mit.edu 37 20 47989981 47989981 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr20:47989981C>T uc002xur.1 - 2 2280 c.2116G>A c.(2116-2118)GCT>ACT p.A706T KCNB1_uc002xus.1_Missense_Mutation_p.A706T NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 706 Poly-Ala.|Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TCCAGTCCAGCGACAGCAGCC 0.592 GNAS 2778 broad.mit.edu 37 20 57415346 57415346 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr20:57415346G>A uc002xzt.2 + 1 552 c.185G>A c.(184-186)CGG>CAG p.R62Q GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank NM_016592 NP_057676 P63092 GNAS2_HUMAN GNAS complex locus NESP55 62 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CAACAGCGCCGGAGCTTCCTT 0.692 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) TH1L 51497 broad.mit.edu 37 20 57568760 57568760 + Nonsense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr20:57568760C>T uc002yag.2 + 13 1576 c.1549C>T c.(1549-1551)CGA>TGA p.R517* TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Intron NM_198976 NP_945327 Q8IXH7 NELFD_HUMAN TH1-like protein 517 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_lung(29;0.00711) Colorectal(105;0.109) CAGTTACATCCGAAAGTGTCT 0.458 CHRNA4 1137 broad.mit.edu 37 20 61990990 61990990 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr20:61990990G>A uc002yes.2 - 2 316 c.138C>T c.(136-138)TCC>TCT p.S46S CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 46 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) TGTTGTAACCGGAGAAGAGTT 0.652 ZGPAT 84619 broad.mit.edu 37 20 62365998 62365998 + Silent SNP G G C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr20:62365998G>C uc002ygk.2 + 5 1051 c.873G>C c.(871-873)GTG>GTC p.V291V ZGPAT_uc002ygi.2_Intron|ZGPAT_uc002ygj.2_Intron|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Intron|ZGPAT_uc002ygm.2_Intron|ZGPAT_uc002ygn.3_Intron|LIME1_uc011abi.1_5'Flank|LIME1_uc002ygp.3_5'Flank NM_032527 NP_115916 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 291 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) CTCTTGCAGTGGTGGGGTCGG 0.622 MYT1 4661 broad.mit.edu 37 20 62836422 62836422 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr20:62836422G>A uc002yii.2 + 5 485 c.121G>A c.(121-123)GTC>ATC p.V41I MYT1_uc002yih.2_Missense_Mutation_p.V41I|MYT1_uc002yij.2_5'Flank NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 41 C2HC-type 1. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CTCAGGGCACGTCCGGGGCAA 0.602 UMODL1 89766 broad.mit.edu 37 21 43496205 43496205 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr21:43496205G>A uc002zaf.1 + 2 168 c.168G>A c.(166-168)ACG>ACA p.T56T UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zag.1_Silent_p.T56T|uc002zah.1_RNA NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 56 Extracellular (Potential).|EMI. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 CGTCCTACACGTCCTATGTGT 0.597 GAB4 128954 broad.mit.edu 37 22 17472957 17472957 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr22:17472957T>C uc002zlw.2 - 2 392 c.284A>G c.(283-285)AAC>AGC p.N95S GAB4_uc010gqs.1_Missense_Mutation_p.N95S NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 95 PH. large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) GAGGTTCAGGTTGATGGTGCG 0.493 ZNF74 7625 broad.mit.edu 37 22 20754927 20754927 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr22:20754927G>A uc010gsm.2 + 4 338 c.126G>A c.(124-126)TCG>TCA p.S42S ZNF74_uc002zsg.2_5'UTR|ZNF74_uc002zsh.2_Silent_p.S42S|ZNF74_uc002zsi.2_5'UTR|ZNF74_uc010gsn.2_5'UTR NM_003426 NP_003417 Q16587 ZNF74_HUMAN zinc finger protein 74 42 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding ovary(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TTCAGGAATCGGTGAGTTTCA 0.498 PIWIL3 440822 broad.mit.edu 37 22 25124344 25124344 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr22:25124344T>C uc003abd.1 - 15 2149 c.1732A>G c.(1732-1734)AAG>GAG p.K578E PIWIL3_uc011ajx.1_Intron|PIWIL3_uc011ajy.1_Intron|PIWIL3_uc010gut.1_Intron NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 578 Piwi. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 CAAATCACCTTGAAAACCAGC 0.408 PLA2G3 50487 broad.mit.edu 37 22 31533765 31533765 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr22:31533765T>C uc003aka.2 - 4 1126 c.997A>G c.(997-999)ATG>GTG p.M333V NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III precursor 333 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity 0 GGAGAGACCATAGGGTCCTGG 0.617 MYH9 4627 broad.mit.edu 37 22 36708139 36708139 + Missense_Mutation SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr22:36708139C>A uc003apg.2 - 14 1914 c.1683G>T c.(1681-1683)CAG>CAT p.Q561H MYH9_uc003aph.1_Missense_Mutation_p.Q425H NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 561 Myosin head-like. 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 TGTCCTTCAGCTGCTTGGGCT 0.582 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated WDR48 57599 broad.mit.edu 37 3 39107333 39107333 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr3:39107333A>G uc003cit.2 + 3 231 c.221A>G c.(220-222)CAT>CGT p.H74R WDR48_uc011ayt.1_Missense_Mutation_p.H74R|WDR48_uc011ayu.1_Intron|WDR48_uc011ayv.1_Intron|WDR48_uc003ciu.2_RNA NM_020839 NP_065890 Q8TAF3 WDR48_HUMAN WD repeat domain 48 74 WD 2. interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding ovary(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) ATGGAACACCATACTGATTGG 0.284 RHOA 387 broad.mit.edu 37 3 49405954 49405954 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr3:49405954C>T uc003cwu.2 - 3 460 c.184G>A c.(184-186)GGG>AGG p.G62R RHOA_uc010hku.2_5'UTR NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 62 GTP (By similarity). axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) TCTTCCTGCCCAGCTGTGTCC 0.473 STXBP5L 9515 broad.mit.edu 37 3 120871364 120871364 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr3:120871364A>G uc003eec.3 + 8 850 c.710A>G c.(709-711)GAC>GGC p.D237G STXBP5L_uc011bji.1_Missense_Mutation_p.D237G NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 237 WD 4. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) GTATTCTGGGACTTGAAATCT 0.318 MED12L 116931 broad.mit.edu 37 3 151073819 151073819 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr3:151073819G>A uc003eyp.2 + 17 2586 c.2548G>A c.(2548-2550)GCA>ACA p.A850T MED12L_uc011bnz.1_Missense_Mutation_p.A710T|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A14T NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 850 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AATTGACTTCGCAATACAGGT 0.403 PIK3CA 5290 broad.mit.edu 37 3 178922370 178922370 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr3:178922370A>G uc003fjk.2 + 6 1296 c.1139A>G c.(1138-1140)AAT>AGT p.N380S NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 380 C2 PI3K-type. 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 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) CCTTGTTCCAATCCCAGGTAA 0.303 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) FGF12 2257 broad.mit.edu 37 3 192125831 192125831 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr3:192125831G>A uc003fsx.2 - 1 1008 c.182C>T c.(181-183)CCG>CTG p.P61L FGF12_uc003fsy.2_Intron NM_021032 NP_066360 P61328 FGF12_HUMAN fibroblast growth factor 12 isoform 1 61 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding ovary(1)|skin(1)|lung(1)|pancreas(1) 4 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) CCGCCTCACCGGCCTCTTGCG 0.672 MUC20 200958 broad.mit.edu 37 3 195451990 195451990 + Silent SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr3:195451990G>T uc010hzo.2 + 2 642 c.516G>T c.(514-516)CTG>CTT p.L172L MUC20_uc010hzp.2_Silent_p.L137L|MUC20_uc011bte.1_5'Flank NM_152673 NP_689886 Q8N307 MUC20_HUMAN mucin 20 isoform L Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane 0 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CTAAGGGCCTGTCCTCAGAGA 0.577 FAT4 79633 broad.mit.edu 37 4 126372362 126372362 + Missense_Mutation SNP T T A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr4:126372362T>A uc003ifj.3 + 9 10191 c.10191T>A c.(10189-10191)GAT>GAA p.D3397E FAT4_uc011cgp.1_Missense_Mutation_p.D1695E|FAT4_uc003ifi.1_Missense_Mutation_p.D875E NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3397 Cadherin 32.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CCGTGCTTGATGCAAATGACC 0.433 PCDH10 57575 broad.mit.edu 37 4 134073070 134073070 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr4:134073070G>A uc003iha.2 + 1 2601 c.1775G>A c.(1774-1776)CGC>CAC p.R592H uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R592H NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 592 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GTGCTGCCCCGCTCGGCGGAG 0.657 DCHS2 54798 broad.mit.edu 37 4 155219548 155219548 + Missense_Mutation SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr4:155219548G>T uc003inw.2 - 18 4553 c.4553C>A c.(4552-4554)ACT>AAT p.T1518N NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1518 Cadherin 13. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AGCCTCATCAGTCAGAAAATA 0.473 PRDM9 56979 broad.mit.edu 37 5 23526774 23526774 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr5:23526774A>G uc003jgo.2 + 11 1759 c.1577A>G c.(1576-1578)TAT>TGT p.Y526C NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 526 C2H2-type 2; degenerate. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AAAGTCAAGTATGGAGAGTGT 0.453 HNSCC(3;0.000094) CDH10 1008 broad.mit.edu 37 5 24593377 24593377 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr5:24593377C>T uc003jgr.1 - 2 555 c.223G>A c.(223-225)GTA>ATA p.V75I CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 75 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) ACCTTGCCTACGTACTGATAA 0.333 HNSCC(23;0.051) FST 10468 broad.mit.edu 37 5 52780919 52780919 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr5:52780919G>A uc003jpd.2 + 5 841 c.814G>A c.(814-816)GAG>AAG p.E272K FST_uc003jpc.2_Missense_Mutation_p.E272K NM_013409 NP_037541 P19883 FST_HUMAN follistatin isoform FST344 precursor 272 Kazal-like 3. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity 0 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) CCTCTGTGATGAGCTGTGCCC 0.517 CD180 4064 broad.mit.edu 37 5 66478868 66478868 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr5:66478868G>A uc003juy.2 - 3 1951 c.1803C>T c.(1801-1803)GGC>GGT p.G601G NM_005582 NP_005573 Q99467 CD180_HUMAN CD180 molecule precursor 601 Extracellular (Potential).|LRRCT. inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity ovary(1) 1 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) TCTCCTCCGAGCCTTCAAGTT 0.448 RASGRF2 5924 broad.mit.edu 37 5 80369248 80369248 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr5:80369248C>T uc003kha.1 + 5 864 c.864C>T c.(862-864)GAC>GAT p.D288D RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Silent_p.D116D NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 288 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) GCCACGACGACGTCAGCAGTA 0.448 MEF2C 4208 broad.mit.edu 37 5 88018547 88018547 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr5:88018547G>A uc003kjj.2 - 11 1969 c.1296C>T c.(1294-1296)GAC>GAT p.D432D MEF2C_uc003kji.2_Silent_p.D424D|MEF2C_uc003kjk.2_Silent_p.D432D|MEF2C_uc003kjm.2_Silent_p.D422D|MEF2C_uc003kjl.2_Silent_p.D442D NM_002397 NP_002388 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C isoform 1 432 Cleavage (Probable). D->A: Abolishes cleavage by caspase 7. apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(3)|breast(2)|ovary(1)|large_intestine(1) 7 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) GGTCGCTCCCGTCGTACGAAC 0.597 HNSCC(66;0.2) NR2F1 7025 broad.mit.edu 37 5 92923850 92923850 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr5:92923850G>A uc003kkj.2 + 2 2378 c.691G>A c.(691-693)GTC>ATC p.V231I NM_005654 NP_005645 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 231 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding urinary_tract(1)|ovary(1)|lung(1) 3 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) CTTCAGCGCCGTCGAGTGGGC 0.637 PSD2 84249 broad.mit.edu 37 5 139189211 139189211 + Missense_Mutation SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr5:139189211G>T uc003leu.1 + 2 391 c.186G>T c.(184-186)AAG>AAT p.K62N NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 62 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACCCACGAAGGACCCAGATG 0.627 PCDHGA5 56110 broad.mit.edu 37 5 140745174 140745174 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr5:140745174A>G uc003lju.1 + 1 1277 c.1277A>G c.(1276-1278)GAC>GGC p.D426G PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.D426G NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 426 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCGTCATGGACCATGGAACC 0.448 PCDHGC4 56098 broad.mit.edu 37 5 140864960 140864960 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr5:140864960C>T uc003lky.1 + 1 220 c.220C>T c.(220-222)CAC>TAC p.H74Y PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.H74Y NM_018928 NP_061751 Q9Y5F7 PCDGL_HUMAN protocadherin gamma subfamily C, 4 isoform 1 74 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACCAAAGACACTTCCGTGT 0.572 POU4F3 5459 broad.mit.edu 37 5 145719209 145719209 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr5:145719209G>A uc003loa.2 + 2 308 c.219G>A c.(217-219)CCG>CCA p.P73P NM_002700 NP_002691 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 73 sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGAACCATCCGTTCAAGCCCG 0.607 POU4F3 5459 broad.mit.edu 37 5 145719700 145719700 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr5:145719700C>T uc003loa.2 + 2 799 c.710C>T c.(709-711)TCG>TTG p.S237L NM_002700 NP_002691 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 237 POU-specific. sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCACTCTCTCGCACAACAAC 0.617 JAKMIP2 9832 broad.mit.edu 37 5 147012306 147012306 + Missense_Mutation SNP T T A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr5:147012306T>A uc003loq.1 - 13 2095 c.1713A>T c.(1711-1713)CAA>CAT p.Q571H JAKMIP2_uc011dbx.1_Missense_Mutation_p.Q529H|JAKMIP2_uc003lor.1_Missense_Mutation_p.Q550H|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.Q571H NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 571 Potential. Golgi apparatus large_intestine(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTAGTTCTTGTTGTAACCGGT 0.378 SOX30 11063 broad.mit.edu 37 5 157073704 157073704 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr5:157073704C>T uc003lxb.1 - 3 1670 c.1328G>A c.(1327-1329)CGC>CAC p.R443H SOX30_uc003lxc.1_Missense_Mutation_p.R443H|SOX30_uc011dds.1_Missense_Mutation_p.R138H NM_178424 NP_848511 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 isoform a 443 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus|nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1)|central_nervous_system(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CGTAGGTGAGCGGTAAGGATA 0.393 SOX30 11063 broad.mit.edu 37 5 157078519 157078519 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr5:157078519C>T uc003lxb.1 - 1 910 c.568G>A c.(568-570)GAG>AAG p.E190K SOX30_uc003lxc.1_Missense_Mutation_p.E190K|SOX30_uc011dds.1_Intron NM_178424 NP_848511 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 isoform a 190 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus|nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1)|central_nervous_system(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTCATGACCTCCTCCGCCTCC 0.637 GABRG2 2566 broad.mit.edu 37 5 161569188 161569188 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr5:161569188C>T uc003lyz.3 + 7 1146 c.788C>T c.(787-789)TCT>TTT p.S263F GABRG2_uc010jjc.2_Missense_Mutation_p.S303F|GABRG2_uc003lyy.3_Missense_Mutation_p.S263F|GABRG2_uc011dej.1_Missense_Mutation_p.S168F NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 263 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GTGGTCATGTCTGTCTACTTT 0.403 VARS2 57176 broad.mit.edu 37 6 30882769 30882769 + Silent SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr6:30882769A>G uc003nsc.1 + 1 788 c.156A>G c.(154-156)CGA>CGG p.R52R GTF2H4_uc003nsb.1_3'UTR|VARS2_uc003nsd.2_Silent_p.R52R|VARS2_uc011dmx.1_Silent_p.R52R|VARS2_uc011dmy.1_Intron|VARS2_uc011dmz.1_Silent_p.R82R|VARS2_uc011dna.1_Silent_p.R52R|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 52 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 AGCGCCTGCGAGAGAAGCAGG 0.597 LTA 4049 broad.mit.edu 37 6 31541465 31541465 + Missense_Mutation SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr6:31541465C>A uc011dnu.1 + 4 826 c.613C>A c.(613-615)CTG>ATG p.L205M LTA_uc003nue.1_Missense_Mutation_p.L205M|LTA_uc003nuf.2_Intron|LTA_uc003nuh.2_Intron|LTA_uc003nug.2_3'UTR|LTA_uc010jsr.2_RNA|TNF_uc003nui.2_5'Flank|TNF_uc003nuj.2_5'Flank NM_001159740 NP_001153212 P01374 TNFB_HUMAN lymphotoxin alpha precursor 205 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding 0 Etanercept(DB00005) AGCCTTCGCTCTGTAGAACTT 0.502 CLIC5 53405 broad.mit.edu 37 6 45917087 45917087 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr6:45917087C>T uc003oxv.3 - 3 788 c.682G>A c.(682-684)GGC>AGC p.G228S CLIC5_uc003oxu.3_Missense_Mutation_p.G69S|CLIC5_uc003oxx.2_Missense_Mutation_p.G69S NM_001114086 NP_001107558 Q9NZA1 CLIC5_HUMAN chloride intracellular channel 5 isoform a 228 female pregnancy actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity ovary(1)|skin(1) 2 GGGTGCGTGCCGGGGGCTAGG 0.542 KLHL31 401265 broad.mit.edu 37 6 53516915 53516915 + Silent SNP C C G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr6:53516915C>G uc003pcb.3 - 3 1527 c.1386G>C c.(1384-1386)GCG>GCC p.A462A uc003pcc.1_Missense_Mutation_p.R103G NM_001003760 NP_001003760 Q9H511 KLH31_HUMAN kelch repeat and BTB (POZ) domain containing 1 462 Kelch 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent ovary(1) 1 Lung NSC(77;0.0158) CGTCGGCGACCGCGCTAGCGT 0.692 BAI3 577 broad.mit.edu 37 6 70037747 70037747 + Missense_Mutation SNP T T G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr6:70037747T>G uc003pev.3 + 22 3449 c.3001T>G c.(3001-3003)TTC>GTC p.F1001V BAI3_uc010kak.2_Missense_Mutation_p.F1001V|BAI3_uc011dxx.1_Missense_Mutation_p.F207V|BAI3_uc003pex.1_Missense_Mutation_p.F131V NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1001 Helical; Name=4; (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) ATCAGTAGGCTTCACCAGAAC 0.383 C6orf221 154288 broad.mit.edu 37 6 74073551 74073551 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr6:74073551G>A uc003pgt.3 + 3 675 c.622G>A c.(622-624)GAG>AAG p.E208K NM_001017361 NP_001017361 Q587J8 ECAT1_HUMAN hypothetical protein LOC154288 208 skin(2) 2 GCGGTTTCGCGAGGATGCCCG 0.617 SNAP91 9892 broad.mit.edu 37 6 84269910 84269910 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr6:84269910G>A uc011dze.1 - 27 2861 c.2544C>T c.(2542-2544)GGC>GGT p.G848G SNAP91_uc011dzd.1_Silent_p.G346G|SNAP91_uc003pkb.2_Silent_p.G757G|SNAP91_uc003pkc.2_Silent_p.G818G|SNAP91_uc003pkd.2_Silent_p.G541G|SNAP91_uc003pka.2_Silent_p.G846G NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog 848 Pro-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) TCATGGGCATGCCTGTCCCAG 0.542 TBX18 9096 broad.mit.edu 37 6 85472321 85472321 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr6:85472321G>A uc003pkl.1 - 2 438 c.438C>T c.(436-438)GCC>GCT p.A146A TBX18_uc010kbq.1_5'UTR NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 146 T-box. 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) TCCAGAGCTCGGCTCCCTGCA 0.697 POU3F2 5454 broad.mit.edu 37 6 99283682 99283682 + Missense_Mutation SNP T T A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr6:99283682T>A uc003ppe.2 + 1 1103 c.933T>A c.(931-933)TTT>TTA p.F311L NM_005604 NP_005595 P20265 PO3F2_HUMAN POU domain, class 3, transcription factor 2 311 POU-specific. positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) TCTGCAGGTTTGAGGCCCTGC 0.592 REV3L 5980 broad.mit.edu 37 6 111701366 111701366 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr6:111701366C>T uc003puy.3 - 11 1596 c.1273G>A c.(1273-1275)GGA>AGA p.G425R REV3L_uc003pux.3_Missense_Mutation_p.G347R|REV3L_uc003puz.3_Missense_Mutation_p.G347R NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 425 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CCCCGATATCCATCACTTTCC 0.368 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage HEBP2 23593 broad.mit.edu 37 6 138734166 138734166 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr6:138734166A>G uc003qhw.1 + 4 866 c.569A>G c.(568-570)AAT>AGT p.N190S NM_014320 NP_055135 Q9Y5Z4 HEBP2_HUMAN heme binding protein 2 190 mitochondrion 0 Breast(32;0.0933) GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171) AATAGAAATAATGAAGTGTGG 0.353 MLLT4 4301 broad.mit.edu 37 6 168265408 168265408 + Missense_Mutation SNP G G C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr6:168265408G>C uc003qwd.2 + 2 425 c.283G>C c.(283-285)GAA>CAA p.E95Q MLLT4_uc003qwb.1_Missense_Mutation_p.E95Q|MLLT4_uc003qwc.1_Missense_Mutation_p.E95Q NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 95 Ras-associating 1. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TTCACTCTATGAAGTGCATGT 0.493 T MLL AL HDAC9 9734 broad.mit.edu 37 7 18625092 18625092 + Nonsense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr7:18625092C>T uc003suh.2 + 2 252 c.211C>T c.(211-213)CAG>TAG p.Q71* HDAC9_uc003sue.2_Nonsense_Mutation_p.Q71*|HDAC9_uc011jyd.1_Nonsense_Mutation_p.Q71*|HDAC9_uc003sui.2_Nonsense_Mutation_p.Q71*|HDAC9_uc003suj.2_Nonsense_Mutation_p.Q71*|HDAC9_uc011jya.1_Nonsense_Mutation_p.Q112*|HDAC9_uc003sua.1_Nonsense_Mutation_p.Q90*|HDAC9_uc011jyb.1_Nonsense_Mutation_p.Q71*|HDAC9_uc003sud.1_Nonsense_Mutation_p.Q71*|HDAC9_uc011jyc.1_Nonsense_Mutation_p.Q71*|HDAC9_uc003suf.1_Nonsense_Mutation_p.Q99*|HDAC9_uc010kud.1_Nonsense_Mutation_p.Q71*|HDAC9_uc011jye.1_Nonsense_Mutation_p.Q40*|HDAC9_uc011jyf.1_Nonsense_Mutation_p.Q40* NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 71 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) GTTTCAGAAACAGCATGAGAA 0.488 PKD1L1 168507 broad.mit.edu 37 7 47947797 47947797 + Missense_Mutation SNP C C T rs141974473 TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr7:47947797C>T uc003tny.1 - 9 1279 c.1279G>A c.(1279-1281)GAA>AAA p.E427K NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 427 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 AGCTCCACTTCGGTTCCATGA 0.423 CLDN12 9069 broad.mit.edu 37 7 90042693 90042693 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr7:90042693A>G uc003ukp.2 + 5 1339 c.703A>G c.(703-705)ATT>GTT p.I235V CLDN12_uc003ukq.2_Missense_Mutation_p.I235V|CLDN12_uc010leq.2_Missense_Mutation_p.I235V|CLDN12_uc003ukr.2_Missense_Mutation_p.I235V|CLDN12_uc003uks.2_Missense_Mutation_p.I235V NM_012129 NP_036261 P56749 CLD12_HUMAN claudin 12 235 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 TGCCATTGAAATTGACATTCC 0.438 SLC25A13 10165 broad.mit.edu 37 7 95822490 95822490 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr7:95822490T>C uc003uof.3 - 6 665 c.474A>G c.(472-474)ATA>ATG p.I158M SLC25A13_uc003uog.3_Missense_Mutation_p.I158M|SLC25A13_uc011kik.1_Missense_Mutation_p.I50M NM_014251 NP_055066 Q9UJS0 CMC2_HUMAN solute carrier family 25, member 13 isoform 2 158 EF-hand 4. ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity central_nervous_system(3)|skin(1) 4 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) GCTCCAGTTGTATTTCCTACA 0.393 SSPO 23145 broad.mit.edu 37 7 149493689 149493689 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr7:149493689C>T uc010lpk.2 + 46 6685 c.6685C>T c.(6685-6687)CCA>TCA p.P2229S NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2229 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CACAGGGTCCCCACCGGCACC 0.667 VPS37A 137492 broad.mit.edu 37 8 17137897 17137897 + Missense_Mutation SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr8:17137897C>A uc003wxj.2 + 9 1267 c.914C>A c.(913-915)ACA>AAA p.T305K VPS37A_uc003wxk.2_Missense_Mutation_p.T280K|VPS37A_uc003wxl.2_Intron NM_152415 NP_689628 Q8NEZ2 VP37A_HUMAN hepatocellular carcinoma related protein 1 305 cellular membrane organization|endosome transport|protein transport centrosome|late endosome membrane|nucleus 0 Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212) GAATTACTTACACAGATGAAG 0.274 FGF17 8822 broad.mit.edu 37 8 21903764 21903764 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr8:21903764G>A uc003xag.2 + 3 224 c.212G>A c.(211-213)CGT>CAT p.R71H FGF17_uc003xah.2_Missense_Mutation_p.R60H|FGF17_uc003xai.2_Missense_Mutation_p.R94H NM_003867 NP_003858 O60258 FGF17_HUMAN fibroblast growth factor 17 precursor 71 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding 0 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) GTCACCGGGCGTCGCATCTCC 0.662 MYST3 7994 broad.mit.edu 37 8 41790128 41790128 + Missense_Mutation SNP G G C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr8:41790128G>C uc010lxb.2 - 18 6154 c.5610C>G c.(5608-5610)CAC>CAG p.H1870Q MYST3_uc010lxc.2_Missense_Mutation_p.H1870Q|MYST3_uc003xon.3_Missense_Mutation_p.H1870Q NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1870 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) GCTGCTGCTGGTGAGCAGCCG 0.597 LYN 4067 broad.mit.edu 37 8 56866415 56866415 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr8:56866415G>A uc003xsk.3 + 8 944 c.662G>A c.(661-663)AGA>AAA p.R221K LYN_uc003xsl.3_Missense_Mutation_p.R200K NM_002350 NP_002341 P07948 LYN_HUMAN Yamaguchi sarcoma viral (v-yes-1) oncogene 221 SH2. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) TTGTGCAGAAGATTGGAGAAG 0.438 CNGB3 54714 broad.mit.edu 37 8 87680379 87680379 + Missense_Mutation SNP G G C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr8:87680379G>C uc003ydx.2 - 5 557 c.511C>G c.(511-513)CCA>GCA p.P171A CNGB3_uc010maj.2_Missense_Mutation_p.P33A NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 171 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 TTTACTGGTGGTACAGCCGTG 0.333 VPS13B 157680 broad.mit.edu 37 8 100790949 100790949 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr8:100790949A>G uc003yiv.2 + 42 7655 c.7544A>G c.(7543-7545)AAT>AGT p.N2515S VPS13B_uc003yiw.2_Missense_Mutation_p.N2490S NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2515 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TCCGACAGAAATATGCCATCT 0.388 PKHD1L1 93035 broad.mit.edu 37 8 110464495 110464495 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr8:110464495G>A uc003yne.2 + 42 6597 c.6493G>A c.(6493-6495)GGC>AGC p.G2165S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2165 IPT/TIG 14.|Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CAGAGGTGTCGGCATGGCCAA 0.438 HNSCC(38;0.096) OR13C8 138802 broad.mit.edu 37 9 107331805 107331805 + Silent SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr9:107331805A>G uc011lvo.1 + 1 357 c.357A>G c.(355-357)GCA>GCG p.A119A NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 119 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GCACGATGGCACTGGACCGCT 0.532 DMD 1756 broad.mit.edu 37 X 32398721 32398721 + Missense_Mutation SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chrX:32398721G>T uc004dda.1 - 34 4995 c.4751C>A c.(4750-4752)ACA>AAA p.T1584K DMD_uc004dcw.2_Missense_Mutation_p.T240K|DMD_uc004dcx.2_Missense_Mutation_p.T243K|DMD_uc004dcz.2_Missense_Mutation_p.T1461K|DMD_uc004dcy.1_Missense_Mutation_p.T1580K|DMD_uc004ddb.1_Missense_Mutation_p.T1576K|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1584 Spectrin 11.|Interaction with SYNM (By similarity). 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) CAGCCATTCTGTCAAGACATT 0.383 IRS4 8471 broad.mit.edu 37 X 107977572 107977572 + Missense_Mutation SNP T T G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chrX:107977572T>G uc004eoc.2 - 1 2036 c.2003A>C c.(2002-2004)AAA>ACA p.K668T NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 668 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 TTTGGCTTCTTTGCATTCTTT 0.507 MCF2 4168 broad.mit.edu 37 X 138708381 138708381 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chrX:138708381G>A uc004fau.2 - 6 952 c.658C>T c.(658-660)CTA>TTA p.L220L MCF2_uc004fav.2_Silent_p.L220L|MCF2_uc011mwl.1_Silent_p.L181L|MCF2_uc010nsh.1_Silent_p.L220L|MCF2_uc011mwm.1_Silent_p.L181L|MCF2_uc011mwn.1_Silent_p.L365L|MCF2_uc004faw.2_Silent_p.L280L|MCF2_uc011mwo.1_Silent_p.L280L NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 220 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) AACTTCCATAGTTGCAGATAC 0.333 SLITRK2 84631 broad.mit.edu 37 X 144905049 144905049 + Missense_Mutation SNP A A T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chrX:144905049A>T uc004fcd.2 + 5 2096 c.1106A>T c.(1105-1107)GAC>GTC p.D369V SLITRK2_uc010nsp.2_Missense_Mutation_p.D369V|SLITRK2_uc010nso.2_Missense_Mutation_p.D369V|SLITRK2_uc011mwq.1_Missense_Mutation_p.D369V|SLITRK2_uc011mwr.1_Missense_Mutation_p.D369V|SLITRK2_uc011mws.1_Missense_Mutation_p.D369V|SLITRK2_uc004fcg.2_Missense_Mutation_p.D369V|SLITRK2_uc011mwt.1_Missense_Mutation_p.D369V NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 369 Extracellular (Potential).|LRRNT. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) AATATCTCTGACCTGCAGCCC 0.458 AFF2 2334 broad.mit.edu 37 X 148055009 148055009 + Silent SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chrX:148055009A>G uc004fcp.2 + 16 3755 c.3276A>G c.(3274-3276)AAA>AAG p.K1092K AFF2_uc004fcq.2_Silent_p.K1082K|AFF2_uc004fcr.2_Silent_p.K1053K|AFF2_uc011mxb.1_Silent_p.K1057K|AFF2_uc004fcs.2_Silent_p.K1057K|AFF2_uc011mxc.1_Silent_p.K733K NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 1092 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) AGTTCGAGAAATTTGGCAAAG 0.378 SGIP1 84251 broad.mit.edu 37 1 67098778 67098781 + Splice_Site DEL GTAA GTAA - TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:67098777_67098780TGTAA>T uc001dcr.3 + 3 316 c.99_splice c.e3+1 p.I33_splice NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA. 33 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex SH3 domain binding|microtubule binding|phospholipid binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 GAGATGGAATTGTAAGTATTTAAA 0.299 GJA8 2703 broad.mit.edu 37 1 147381125 147381127 + In_Frame_Del DEL AGA AGA - TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:147381125_147381127delAGA uc001epu.1 + 2 1106_1108 c.1043_1045delAGA c.(1042-1047)GAGAAG>GAG p.K350del NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 350 Cytoplasmic (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) GAGGTGGGAGAGAAGAAGGAGGA 0.635 TRPC6 7225 broad.mit.edu 37 11 101454132 101454132 + Frame_Shift_Del DEL C C - TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr11:101454132delC uc001pgk.3 - 1 528 c.103delG c.(103-105)GACfs p.D35fs TRPC6_uc009ywy.2_Frame_Shift_Del_p.D35fs|TRPC6_uc009ywz.1_Frame_Shift_Del_p.D35fs NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 35 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) AGCTCCGAGTCCATGAGCAGA 0.726 DSG2 1829 broad.mit.edu 37 18 29100918 29100919 + Frame_Shift_Ins INS - - T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr18:29100918_29100919insT uc002kwu.3 + 4 557_558 c.369_370insT c.(367-372)CCATTTfs p.P123fs NM_001943 NP_001934 Q14126 DSG2_HUMAN desmoglein 2 preproprotein 123_124 Extracellular (Potential).|Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(2)|breast(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.0068) AAGAAACACCATTTTTTCTGGT 0.297 SGIP1 84251 broad.mit.edu 37 1 67098778 67098781 + Splice_Site DEL GTAA GTAA - TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr1:67098777_67098780TGTAA>T uc001dcr.3 + 3 316 c.99_splice c.e3+1 p.I33_splice NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA. 33 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex SH3 domain binding|microtubule binding|phospholipid binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 GAGATGGAATTGTAAGTATTTAAA 0.299 PCDH9 5101 broad.mit.edu 37 13 67799994 67799994 + Frame_Shift_Del DEL T T - TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr13:67799993_67799993GT>G uc001vik.3 - 1 3272 c.2580_2580AC>C c.(2578-2580)aacfs p.N860fs PCDH9_uc001vil.3_Frame_Shift_Del_p.N860fs|PCDH9_uc010thl.2_Frame_Shift_Del_p.N860fs|PCDH9_uc001vin.3_Frame_Shift_Del_p.N860fs NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA. 860 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TGTTCTCCTGGTTTGGGGACA 0.458 RSPRY1 89970 broad.mit.edu 37 16 57243062 57243063 + Frame_Shift_Ins INS - - T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr16:57243061_57243062A>AT uc002elb.3 + 3 756_757 c.478_479A>AT c.(478-480)atafs p.I160fs RSPRY1_uc002elc.3_Frame_Shift_Ins_p.I160fs|RSPRY1_uc002eld.3_Frame_Shift_Ins_p.I160fs NM_133368 NP_588609 Q96DX4 RSPRY_HUMAN Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA. 160 extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 ACCAGCTGTTATAACATTGTTA 0.347 CCDC9 26093 broad.mit.edu 37 19 47774761 47774762 + Frame_Shift_Ins INS - - G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 g.chr19:47774760_47774761A>AG uc010xym.2 + 11 1628_1629 c.1421_1422A>AG c.(1420-1422)gagfs p.E474fs PRR24_uc021uwm.1_5'Flank NM_015603 NP_056418 Q9Y3X0 CCDC9_HUMAN Homo sapiens coiled-coil domain containing 9 (CCDC9), mRNA. 474 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) TTCAGTCCGGAGGAGCCCCTGC 0.683