Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PRDM16 63976 broad.mit.edu 37 1 3328444 3328444 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:3328444C>T uc001akf.2 + 9 1763 c.1683C>T c.(1681-1683)GCC>GCT p.A561A PRDM16_uc001akc.2_Silent_p.A561A|PRDM16_uc001akd.2_Silent_p.A561A|PRDM16_uc001ake.2_Silent_p.A561A|PRDM16_uc009vlh.2_Silent_p.A262A NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 561 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) TGGTCTCCGCCGTCAGCAACA 0.667 NA T EVI1 MDS|AML 5 48 0 0 0.000602 0 0 NOL9 79707 broad.mit.edu 37 1 6585920 6585920 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:6585920C>T uc001ans.2 - 12 2122 c.2103G>A c.(2101-2103)ATG>ATA p.M701I NOL9_uc010nzs.1_RNA NM_024654 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 701 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding skin(1) 1 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) AGCATCACTTCATTTTTCGAC 0.418 NA 13 190 0 0 0.00245 0 0 NOL9 79707 broad.mit.edu 37 1 6585979 6585979 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:6585979C>T uc001ans.2 - 12 2063 c.2044G>A c.(2044-2046)GAA>AAA p.E682K NOL9_uc010nzs.1_RNA NM_024654 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 682 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding skin(1) 1 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) TCCTCAGGTTCTCTTGCTCCA 0.418 NA 14 170 0 0 0.001855 0 0 DFFA 1676 broad.mit.edu 37 1 10527261 10527261 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:10527261C>G uc001arj.2 - 3 525 c.427G>C c.(427-429)GAG>CAG p.E143Q DFFA_uc001ark.2_Missense_Mutation_p.E143Q NM_004401 NP_004392 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha 143 DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding 0 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) AGGTCCTCCTCTGATAGGAGG 0.532 NA 10 92 0 0 0.006214 0 0 ACTL8 81569 broad.mit.edu 37 1 18152600 18152600 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:18152600G>A uc001bat.2 + 3 903 c.687G>A c.(685-687)CAG>CAA p.Q229Q NM_030812 NP_110439 Q9H568 ACTL8_HUMAN actin-like 8 229 cytoplasm|cytoskeleton ovary(4) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) AGAGGCAGCAGAGTGCCTTGG 0.607 NA OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 59 0 0 0.001168 0 0 TIE1 7075 broad.mit.edu 37 1 43775098 43775098 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:43775098G>C uc001ciu.2 + 9 1307 c.1228G>C c.(1228-1230)GAG>CAG p.E410Q TIE1_uc010okd.1_Missense_Mutation_p.E410Q|TIE1_uc010oke.1_Missense_Mutation_p.E365Q|TIE1_uc009vwq.2_Missense_Mutation_p.E366Q|TIE1_uc010okf.1_Missense_Mutation_p.E55Q|TIE1_uc010okg.1_Missense_Mutation_p.E55Q|TIE1_uc010okc.1_Nonstop_Mutation_p.*318S NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 410 Ig-like C2-type 2.|Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GACCACAGCTGAGTTCGAGGT 0.607 NA 5 29 0 0 0.001168 0 0 GLIS1 148979 broad.mit.edu 37 1 54060157 54060157 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:54060157C>T uc001cvr.1 - 3 986 c.419G>A c.(418-420)CGG>CAG p.R140Q NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 140 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding skin(1) 1 GCTCGCCTTCCGGCAGGCTTC 0.657 NA 4 38 0 0 0.009096 0 0 C8A 731 broad.mit.edu 37 1 57347292 57347292 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:57347292G>A uc001cyo.2 + 5 771 c.639G>A c.(637-639)CTG>CTA p.L213L NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 213 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 ACAACTTTCTGAAGTACCACT 0.478 NA 12 84 0 0 0.001368 0 0 LPHN2 23266 broad.mit.edu 37 1 82456132 82456132 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:82456132G>T uc001dit.3 + 21 3696 c.3515G>T c.(3514-3516)GGT>GTT p.G1172V LPHN2_uc001dis.2_Missense_Mutation_p.G152V|LPHN2_uc001diu.2_Missense_Mutation_p.G1172V|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.G799V NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 1228 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CCGCTAAATGGTAATTTTAAC 0.433 NA 17 129 2.5808e-16 3.66335e-16 0.006122 1 0 WDR63 126820 broad.mit.edu 37 1 85559237 85559237 + Silent SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:85559237C>G uc001dkt.2 + 9 1145 c.954C>G c.(952-954)ACC>ACG p.T318T WDR63_uc009wcl.2_Silent_p.T279T NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 318 upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) GGGACAAGACCGATACCCACC 0.438 NA 11 136 0 0 0.001368 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94337653 94337653 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:94337653C>T uc001dqf.2 - 5 2080 c.2042G>A c.(2041-2043)AGA>AAA p.R681K DNTTIP2_uc010otm.1_RNA NM_014597 NP_055412 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, 681 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) GAAGCCATCTCTATCATTTTT 0.373 NA 33 315 0 0 0.002836 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94337751 94337751 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:94337751C>G uc001dqf.2 - 5 1982 c.1944G>C c.(1942-1944)ATG>ATC p.M648I DNTTIP2_uc010otm.1_RNA NM_014597 NP_055412 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, 648 M -> I (in Ref. 6; BAD96442). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) CTGGAGCTTTCATACCAAACC 0.343 NA 7 137 0 0 0.00308 0 0 CNN3 1266 broad.mit.edu 37 1 95368680 95368680 + Nonsense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:95368680G>A uc010otw.1 - 4 326 c.244C>T c.(244-246)CAG>TAG p.Q82* CNN3_uc010otv.1_Nonsense_Mutation_p.Q41*|CNN3_uc001dqz.3_Nonsense_Mutation_p.Q82*|CNN3_uc010otx.1_Nonsense_Mutation_p.Q82* NM_001839 NP_001830 Q15417 CNN3_HUMAN calponin 3 82 CH. actomyosin structure organization|smooth muscle contraction actin binding|calmodulin binding|tropomyosin binding|troponin C binding 0 all_lung(203;0.00206)|Lung NSC(277;0.00948) all cancers(265;0.0325)|Epithelial(280;0.0861) GCTGTTACCTGAGGCCAGTTC 0.383 NA 9 84 0 0 0.006214 0 0 PRPF38B 55119 broad.mit.edu 37 1 109242068 109242068 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:109242068G>C uc001dvv.3 + 6 1349 c.1067G>C c.(1066-1068)AGA>ACA p.R356T PRPF38B_uc001dvw.3_Missense_Mutation_p.R245T|PRPF38B_uc010ouz.1_Missense_Mutation_p.R159T NM_018061 NP_060531 Q5VTL8 PR38B_HUMAN PRP38 pre-mRNA processing factor 38 (yeast) 356 Arg-rich. mRNA processing|RNA splicing spliceosomal complex 0 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) gatcgagaaagagagaaagaa 0.219 NA 3 18 0 0 0.004672 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144865913 144865913 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:144865913G>A uc001elw.3 - 35 5958 c.5667C>T c.(5665-5667)TTC>TTT p.F1889F NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.F1783F|PDE4DIP_uc001elv.3_Silent_p.F896F|PDE4DIP_uc001ema.2_Silent_p.F76F NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1889 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCTGACTGTAGAAGTTAGAAG 0.458 NA T PDGFRB MPD 17 397 0 0 0.007413 0 0 CGN 57530 broad.mit.edu 37 1 151509762 151509762 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:151509762C>T uc009wmw.2 + 21 3696 c.3552C>T c.(3550-3552)TAC>TAT p.Y1184Y CGN_uc010pde.1_Silent_p.Y178Y NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 1178 Tail. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) ACAGTGTCTACGATCCCTCGT 0.537 NA 4 54 0 0 0.001984 0 0 SCAMP3 10067 broad.mit.edu 37 1 155228742 155228742 + Missense_Mutation SNP C C T rs143130366 byFrequency TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:155228742C>T uc001fjs.2 - 5 645 c.392G>A c.(391-393)CGA>CAA p.R131Q RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'UTR|SCAMP3_uc001fju.2_Intron|SCAMP3_uc001fjv.2_Missense_Mutation_p.R131Q|SCAMP3_uc001fjt.2_Missense_Mutation_p.R105Q NM_005698 NP_005689 O14828 SCAM3_HUMAN secretory carrier membrane protein 3 isoform 1 131 Cytoplasmic (Potential). post-Golgi vesicle-mediated transport|protein transport integral to membrane ovary(3) 3 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ATTGTTCTGTCGAGCTGTAAG 0.463 NA 34 76 0 0 0.003755 0 0 PKLR 5313 broad.mit.edu 37 1 155271149 155271149 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:155271149C>A uc001fkb.3 - 1 77 c.38G>T c.(37-39)CGG>CTG p.R13L RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_5'Flank|PKLR_uc010pga.1_5'Flank NM_000298 NP_000289 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC isoform 1 13 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity skin(4)|ovary(1) 5 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GACCCATGACCGAAGCTGCAG 0.532 NA 21 60 1.01871e-10 1.36799e-10 0.008871 1 0 ASH1L 55870 broad.mit.edu 37 1 155317620 155317620 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:155317620C>T uc009wqq.2 - 20 8125 c.7645G>A c.(7645-7647)GAG>AAG p.E2549K RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.E2544K|MIR555_hsa-mir-555|MI0003561_5'Flank NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 2549 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GCTGATGCCTCATGCCGGGCA 0.473 NA 13 148 0 0 0.001855 0 0 OR10K1 391109 broad.mit.edu 37 1 158435885 158435885 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:158435885C>T uc010pij.1 + 1 534 c.534C>T c.(532-534)TTC>TTT p.F178F NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 178 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) ATCACTTCTTCTGTGACATCT 0.532 NA 56 152 0 0 0.00361 0 0 OR10K1 391109 broad.mit.edu 37 1 158436017 158436017 + Silent SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:158436017C>A uc010pij.1 + 1 666 c.666C>A c.(664-666)ATC>ATA p.I222I NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 222 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TCCGCATCATCTCTGCCATTC 0.478 NA 20 71 7.45023e-12 1.01333e-11 0.010504 1 0 SPTA1 6708 broad.mit.edu 37 1 158636110 158636110 + Missense_Mutation SNP C C T rs145972324 by1000genomes TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:158636110C>T uc001fst.1 - 16 2415 c.2216G>A c.(2215-2217)CGT>CAT p.R739H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 739 Spectrin 8. 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) ACAAACCTGACGAGCAGCCAC 0.463 NA 4 19 0 0 0.000602 0 0 C1orf129 80133 broad.mit.edu 37 1 170952642 170952642 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:170952642G>T uc001ghg.2 + 9 826 c.696G>T c.(694-696)AAG>AAT p.K232N C1orf129_uc009wvy.2_Missense_Mutation_p.K39N|C1orf129_uc010plz.1_Missense_Mutation_p.K232N NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 232 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTCTACCCAAGGAGTTTCAAC 0.363 NA 11 55 0.000151284 0.000169295 0.001855 1 0 ABL2 27 broad.mit.edu 37 1 179087822 179087822 + Nonsense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:179087822C>A uc001gmj.3 - 7 1410 c.1123G>T c.(1123-1125)GAA>TAA p.E375* ABL2_uc010pnf.1_Nonsense_Mutation_p.E375*|ABL2_uc010png.1_Nonsense_Mutation_p.E354*|ABL2_uc010pnh.1_Nonsense_Mutation_p.E354*|ABL2_uc009wxe.2_Nonsense_Mutation_p.E354*|ABL2_uc001gmg.3_Nonsense_Mutation_p.E360*|ABL2_uc001gmi.3_Nonsense_Mutation_p.E360*|ABL2_uc001gmh.3_Nonsense_Mutation_p.E339*|ABL2_uc010pne.1_Nonsense_Mutation_p.E339*|ABL2_uc009wxf.1_Nonsense_Mutation_p.E360*|ABL2_uc001gmk.2_Nonsense_Mutation_p.E339* NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 375 Protein kinase. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) CGGTTGCATTCTCGGAGGTAA 0.428 NA T ETV6 AML 65 137 3.77215e-22 5.44581e-22 0.00361 1 0 SOAT1 6646 broad.mit.edu 37 1 179318019 179318019 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:179318019C>T uc001gml.2 + 13 1319 c.1256C>T c.(1255-1257)ACC>ATC p.T419I SOAT1_uc010pni.1_Missense_Mutation_p.T354I|SOAT1_uc001gmm.2_Missense_Mutation_p.T361I|SOAT1_uc010pnj.1_Missense_Mutation_p.T155I|SOAT1_uc010pnk.1_Missense_Mutation_p.T354I NM_003101 NP_003092 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 419 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|skin(1) 2 Ezetimibe(DB00973)|Hesperetin(DB01094) TATTATAGAACCTGGAATGTG 0.318 NA 11 184 0 0 0.010729 0 0 ELK4 2005 broad.mit.edu 37 1 205589516 205589516 + Nonsense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:205589516C>A uc001hcy.1 - 3 1908 c.658G>T c.(658-660)GAA>TAA p.E220* ELK4_uc001hcz.2_Nonsense_Mutation_p.E220* NM_001973 NP_001964 P28324 ELK4_HUMAN ELK4 protein isoform a 220 cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity 0 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) TGGATAGTTTCTTCTGAAGAT 0.473 NA T SLC45A3 prostate 19 76 7.07596e-05 8.00302e-05 0.006122 1 0 ELK4 2005 broad.mit.edu 37 1 205589655 205589655 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:205589655C>T uc001hcy.1 - 3 1769 c.519G>A c.(517-519)GAG>GAA p.E173E ELK4_uc001hcz.2_Silent_p.E173E NM_001973 NP_001964 P28324 ELK4_HUMAN ELK4 protein isoform a 173 cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity 0 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CTGCCAGTTTCTCGGCTGGAT 0.423 NA T SLC45A3 prostate 14 59 0 0 0.00245 0 0 ELK4 2005 broad.mit.edu 37 1 205589806 205589806 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:205589806C>G uc001hcy.1 - 3 1618 c.368G>C c.(367-369)GGA>GCA p.G123A ELK4_uc001hcz.2_Missense_Mutation_p.G123A NM_001973 NP_001964 P28324 ELK4_HUMAN ELK4 protein isoform a 123 cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity 0 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) ATCTTTCCCTCCATTCTCCAC 0.438 NA T SLC45A3 prostate 18 57 0 0 0.010504 0 0 USH2A 7399 broad.mit.edu 37 1 216595491 216595491 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:216595491C>G uc001hku.1 - 2 575 c.188G>C c.(187-189)CGA>CCA p.R63P USH2A_uc001hkv.2_Missense_Mutation_p.R63P NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 63 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAAAGTGCTTCGGTCTGGGAG 0.493 NA HNSCC(13;0.011) 19 37 0 0 0.007413 0 0 DUSP10 11221 broad.mit.edu 37 1 221879756 221879756 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:221879756G>A uc001hmy.1 - 3 1046 c.864C>T c.(862-864)CTC>CTT p.L288L DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR NM_007207 NP_009138 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 isoform a 288 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0103) CTTGGAGCTGGAGGGAGTTGT 0.567 NA 5 91 0 0 0.000602 0 0 URB2 9816 broad.mit.edu 37 1 229773573 229773573 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:229773573C>T uc001hts.1 + 4 3349 c.3213C>T c.(3211-3213)CTC>CTT p.L1071L URB2_uc009xfd.1_Silent_p.L1071L NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 1071 nucleolus central_nervous_system(2)|ovary(1) 3 GACCTTTCCTCAAAGAGCAGA 0.562 NA 22 60 0 0 0.002299 0 0 DISC1 27185 broad.mit.edu 37 1 231830502 231830502 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:231830502G>T uc001huz.2 + 2 1051 c.998G>T c.(997-999)TGG>TTG p.W333L TSNAX-DISC1_uc010pwe.1_Missense_Mutation_p.W288L|TSNAX-DISC1_uc010pwf.1_Missense_Mutation_p.W288L|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.W322L|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.W288L|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.W288L|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.W322L|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.W322L|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Missense_Mutation_p.W333L|DISC1_uc010pwp.1_Missense_Mutation_p.W333L|DISC1_uc010pwq.1_Missense_Mutation_p.W333L|DISC1_uc010pwr.1_Missense_Mutation_p.W333L|DISC1_uc010pws.1_Missense_Mutation_p.W333L|DISC1_uc010pwt.1_Missense_Mutation_p.W333L|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.W333L|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.W333L|DISC1_uc010pxb.1_Missense_Mutation_p.W333L|DISC1_uc010pxc.1_Missense_Mutation_p.W333L|DISC1_uc010pxd.1_Missense_Mutation_p.M1I|DISC1_uc010pxe.1_Missense_Mutation_p.W333L|DISC1_uc009xfr.2_Missense_Mutation_p.W288L|DISC1_uc010pxf.1_Missense_Mutation_p.W333L|DISC1_uc010pxg.1_Missense_Mutation_p.W333L|DISC1_uc010pxh.1_Missense_Mutation_p.W333L|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Missense_Mutation_p.M1I|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.W333L|DISC1_uc010pxn.1_Missense_Mutation_p.M1I|DISC1_uc001hva.2_Missense_Mutation_p.W333L|DISC1_uc010pwm.1_Missense_Mutation_p.W333L|DISC1_uc001hux.1_Missense_Mutation_p.W333L|DISC1_uc001hvc.3_Missense_Mutation_p.W333L|DISC1_uc010pwn.1_Missense_Mutation_p.W333L NM_018662 NP_061132 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 isoform L 333 Interaction with TRAF3IP1. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding skin(1) 1 all_cancers(173;0.0208)|Prostate(94;0.0975) CTCAGGAAATGGGAGCCAGTG 0.607 NA 13 28 1.5842e-08 2.04929e-08 0.001855 1 0 NID1 4811 broad.mit.edu 37 1 236212121 236212121 + Nonsense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:236212121G>A uc001hxo.2 - 2 496 c.394C>T c.(394-396)CAG>TAG p.Q132* NID1_uc009xgd.2_Nonsense_Mutation_p.Q132* NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 132 NIDO. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GCTGCTCGCTGAGTGATGGAG 0.577 NA 4 38 0 0 0.009096 0 0 RYR2 6262 broad.mit.edu 37 1 237886466 237886466 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:237886466C>T uc001hyl.1 + 74 10713 c.10593C>T c.(10591-10593)TAC>TAT p.Y3531Y RYR2_uc010pxz.1_Silent_p.Y486Y NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3531 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGGCTCTTTACAAAGACTTAC 0.388 NA 17 171 0 0 0.006122 0 0 HNRNPU 3192 broad.mit.edu 37 1 245023749 245023749 + Nonsense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:245023749G>C uc001iaz.1 - 4 1123 c.905C>G c.(904-906)TCA>TGA p.S302* HNRNPU_uc001iaw.1_5'Flank|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Nonsense_Mutation_p.S26*|HNRNPU_uc001iba.1_Nonsense_Mutation_p.S283*|HNRNPU_uc001ibb.1_Translation_Start_Site NM_031844 NP_114032 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U 302 B30.2/SPRY. CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding 0 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) ACGATCTCTTGATATTTTAAA 0.358 NSCLC(33;911 1010 3329 23631 49995) NA 4 49 0 0 0.000602 0 0 CNST 163882 broad.mit.edu 37 1 246823523 246823523 + Missense_Mutation SNP T T C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:246823523T>C uc001ibp.2 + 10 2237 c.1859T>C c.(1858-1860)GTC>GCC p.V620A NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 620 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 GAAGGATTGGTCTCCATATTA 0.378 NA 9 194 0 0 0.004482 0 0 OR2L13 284521 broad.mit.edu 37 1 248262905 248262905 + Silent SNP C C A rs139493421 TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:248262905C>A uc001ids.2 + 3 565 c.228C>A c.(226-228)ACC>ACA p.T76T NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 76 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TCTCCACCACCGTCCCCAAGA 0.537 NA 80 133 1.45872e-26 2.12771e-26 0.00361 1 0 OR2M7 391196 broad.mit.edu 37 1 248487558 248487558 + Missense_Mutation SNP T T C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:248487558T>C uc010pzk.1 - 1 313 c.313A>G c.(313-315)ATA>GTA p.I105V NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 105 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGCAATGATATATAGAAGAAA 0.463 NA 32 262 0 0 0.012213 0 0 OR2T27 403239 broad.mit.edu 37 1 248813843 248813843 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:248813843G>T uc010pzo.1 - 1 343 c.343C>A c.(343-345)CTA>ATA p.L115I NM_001001824 NP_001001824 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGAGTCCTAGGAGGAAGAAC 0.547 NA 16 25 1.96292e-10 2.61929e-10 0.010504 1 0 PGBD2 267002 broad.mit.edu 37 1 249212112 249212112 + Silent SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:249212112G>C uc001ifh.2 + 3 1476 c.1329G>C c.(1327-1329)ACG>ACC p.T443T PGBD2_uc001ifg.2_Silent_p.T192T|PGBD2_uc009xhd.2_Silent_p.T440T NM_170725 NP_733843 Q6P3X8 PGBD2_HUMAN hypothetical protein LOC267002 isoform a 443 ovary(1) 1 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CAGCTAAAACGCGGACTCAGG 0.542 NA 13 18 0 0 0.001368 0 0 DIP2C 22982 broad.mit.edu 37 10 323340 323340 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr10:323340C>G uc001ifp.2 - 37 4686 c.4596G>C c.(4594-4596)GAG>GAC p.E1532D NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 1532 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TGCGCTGCTTCTCCCCACGGG 0.577 NA 4 39 0 0 0.009096 0 0 MRC1 4360 broad.mit.edu 37 10 17949583 17949583 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr10:17949583C>G uc001ipk.2 + 28 4050 c.3947C>G c.(3946-3948)TCC>TGC p.S1316C NM_002438 NP_002429 P22897 MRC1_HUMAN mannose receptor C type 1 precursor 1316 Extracellular (Potential).|C-type lectin 8. receptor-mediated endocytosis endosome membrane|integral to plasma membrane mannose binding|receptor activity 0 AGTCCGGTCTCCTTTGTCAAC 0.403 GBM(115;1153 1594 28187 28781 35884) NA 18 89 0 0 0.00874 0 0 KIAA1217 56243 broad.mit.edu 37 10 24722075 24722075 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr10:24722075C>T uc001iru.3 + 4 1108 c.705C>T c.(703-705)TAC>TAT p.Y235Y KIAA1217_uc001irs.2_Silent_p.Y155Y|KIAA1217_uc001irt.3_Silent_p.Y235Y|KIAA1217_uc010qcy.1_Silent_p.Y235Y|KIAA1217_uc010qcz.1_Silent_p.Y235Y|KIAA1217_uc001irv.1_Silent_p.Y85Y|KIAA1217_uc010qda.1_RNA NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 235 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 TCGCCATTTACATCAAAGATG 0.393 NA 10 89 0 0 0.006214 0 0 ERCC6 2074 broad.mit.edu 37 10 50680512 50680512 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr10:50680512C>A uc001jhs.3 - 16 2988 c.2834G>T c.(2833-2835)CGG>CTG p.R945L ERCC6_uc009xod.2_Missense_Mutation_p.R105L|ERCC6_uc010qgr.1_Missense_Mutation_p.R315L|ERCC6_uc001jhr.3_Missense_Mutation_p.R313L NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 945 Helicase C-terminal. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 TGCTCGCTCCCGGGCCTGCAA 0.517 NA Direct_reversal_of_damage|NER 21 106 0.00152264 0.00164305 0.010504 1 0 FAM190B 54462 broad.mit.edu 37 10 86131442 86131442 + Missense_Mutation SNP T T C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr10:86131442T>C uc001kdh.1 + 2 828 c.634T>C c.(634-636)TCT>CCT p.S212P FAM190B_uc001kdg.1_Missense_Mutation_p.S212P|FAM190B_uc010qmd.1_Missense_Mutation_p.S212P NM_018999 NP_061872 Q9H7U1 F190B_HUMAN granule cell antiserum positive 14 212 ovary(3)|skin(1) 4 CAGTAGTAAATCTATTAATTG 0.408 NA 6 70 0 0 0.001168 0 0 AGAP11 119385 broad.mit.edu 37 10 88768270 88768270 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr10:88768270G>T uc001kee.2 + 12 1465 c.261G>T c.(259-261)ATG>ATT p.M87I AGAP11_uc001kef.2_Intron NM_133447 NP_597704 Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase 87 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 AGCAGTCCATGGGCTGGTCCA 0.567 NA 38 188 2.45108e-15 3.46758e-15 0.00874 1 0 PTEN 5728 broad.mit.edu 37 10 89692883 89692883 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr10:89692883C>T uc001kfb.2 + 6 1398 c.367C>T c.(367-369)CAC>TAC p.H123Y NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 123 Phosphatase tensin-type. H -> R (in CD).|H -> Y (in endometrial cancer; loss of protein phosphatase activity). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.H123Y(4)|p.R55fs*1(4)|p.I122fs*2(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.A121_F145del(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGCAGCAATTCACTGTAAAGC 0.398 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 11 104 0 0 0.008291 0 0 EXOC6 54536 broad.mit.edu 37 10 94818035 94818035 + Nonsense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr10:94818035C>T uc001kig.2 + 22 2404 c.2338C>T c.(2338-2340)CGA>TGA p.R780* EXOC6_uc010qnr.1_Nonsense_Mutation_p.R796*|EXOC6_uc001kie.2_Nonsense_Mutation_p.R775*|EXOC6_uc009xub.2_Nonsense_Mutation_p.R779*|EXOC6_uc009xuc.2_Nonsense_Mutation_p.R677*|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Nonsense_Mutation_p.R354*|CYP26C1_uc010qns.1_5'Flank|CYP26C1_uc009xud.2_5'Flank NM_019053 NP_061926 Q8TAG9 EXOC6_HUMAN SEC15-like 1 isoform a 780 protein transport|vesicle docking involved in exocytosis exocyst skin(1) 1 Colorectal(252;0.123) GAAGAATGATCGAGACAAACA 0.383 NA 17 60 0 0 0.004007 0 0 LZTS2 84445 broad.mit.edu 37 10 102763815 102763815 + Silent SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr10:102763815G>T uc001ksj.2 + 3 1029 c.960G>T c.(958-960)TCG>TCT p.S320S LZTS2_uc010qpw.1_Silent_p.S320S|LZTS2_uc001ksk.2_Silent_p.S320S|LZTS2_uc001ksl.2_Silent_p.S320S|LZTS2_uc001ksm.2_RNA NM_032429 NP_115805 Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 320 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center ovary(2)|large_intestine(1)|breast(1) 4 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) CACCTCCTTCGGATGAGGCCC 0.657 Esophageal Squamous(8;38 437 13604 19902 37640) NA 12 51 4.3838e-07 5.42207e-07 0.001855 1 0 SORCS3 22986 broad.mit.edu 37 10 106976816 106976816 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr10:106976816G>T uc001kyi.1 + 19 2897 c.2670G>T c.(2668-2670)CAG>CAT p.Q890H SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 890 PKD.|Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGATCTTCCAGGTGACAGCCT 0.527 NSCLC(116;1497 1690 7108 13108 14106) NA 9 55 1.76689e-08 2.27172e-08 0.006214 1 0 FAM45A 404636 broad.mit.edu 37 10 120867611 120867611 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr10:120867611C>G uc001ldw.2 + 2 231 c.187C>G c.(187-189)CAG>GAG p.Q63E FAM45A_uc010qsv.1_Missense_Mutation_p.Q55E|FAM45A_uc010qsw.1_5'UTR|FAM45A_uc010qsx.1_RNA|FAM45A_uc010qsy.1_Intron NM_207009 NP_996892 Q8TCE6 FA45A_HUMAN hypothetical protein LOC404636 63 ovary(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) TGTCTTTGGTCAGTACAGAAG 0.388 NA 13 178 0 0 0.003163 0 0 C11orf35 256329 broad.mit.edu 37 11 555798 555798 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr11:555798G>A uc001lpx.2 - 12 1573 c.1510C>T c.(1510-1512)CGC>TGC p.R504C uc001lpy.2_5'Flank NM_173573 NP_775844 Q8IXW0 CK035_HUMAN hypothetical protein LOC256329 504 Pro-rich. pancreas(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGAGGTGGGCGCGGCGGCTTG 0.766 NA 3 7 0 0 0.004672 0 0 PNPLA2 57104 broad.mit.edu 37 11 821651 821651 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr11:821651G>C uc001lrt.2 + 3 413 c.211G>C c.(211-213)GAG>CAG p.E71Q PNPLA2_uc009ycl.2_5'Flank NM_020376 NP_065109 Q96AD5 PLPL2_HUMAN patatin-like phospholipase domain containing 2 71 Lumenal (Potential).|Patatin. negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process integral to membrane|lipid particle|plasma membrane triglyceride lipase activity 0 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CAAGTTCATTGAGGTATCTAA 0.597 NA 5 24 0 0 0.000602 0 0 TSSC4 10078 broad.mit.edu 37 11 2424159 2424159 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr11:2424159G>C uc001lwj.2 + 4 657 c.296G>C c.(295-297)TGC>TCC p.C99S TSSC4_uc001lwi.2_Missense_Mutation_p.C35S|TSSC4_uc001lwk.2_Missense_Mutation_p.C99S|TSSC4_uc001lwl.2_Missense_Mutation_p.C99S NM_005706 NP_005697 Q9Y5U2 TSSC4_HUMAN tumor suppressing subtransferable candidate 4 99 0 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCTTTGACTGCCTGGAGGGG 0.662 NA 2 10 0 0 0.004672 0 0 CREB3L1 90993 broad.mit.edu 37 11 46332651 46332651 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr11:46332651C>G uc001ncf.2 + 5 1099 c.664C>G c.(664-666)CCC>GCC p.P222A NM_052854 NP_443086 Q96BA8 CR3L1_HUMAN cAMP responsive element binding protein 3-like 222 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L1(6) soft_tissue(6)|ovary(2) 8 GBM - Glioblastoma multiforme(35;0.0285) CTCCCAGAGTCCCCGCTCTCT 0.677 Pancreas(3;159 194 19597 26278 47995) NA T FUS myxofibrosarcoma 5 52 0 0 0.000602 0 0 CREB3L1 90993 broad.mit.edu 37 11 46332680 46332680 + Silent SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr11:46332680C>G uc001ncf.2 + 5 1128 c.693C>G c.(691-693)GTC>GTG p.V231V NM_052854 NP_443086 Q96BA8 CR3L1_HUMAN cAMP responsive element binding protein 3-like 231 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L1(6) soft_tissue(6)|ovary(2) 8 GBM - Glioblastoma multiforme(35;0.0285) CCAGCCCTGTCAGGCCCATGG 0.672 Pancreas(3;159 194 19597 26278 47995) NA T FUS myxofibrosarcoma 3 23 0 0 0.009096 0 0 MTA2 9219 broad.mit.edu 37 11 62363320 62363320 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr11:62363320C>G uc001ntq.1 - 13 1539 c.1158G>C c.(1156-1158)ATG>ATC p.M386I MTA2_uc010rlx.1_Missense_Mutation_p.M213I NM_004739 NP_004730 O94776 MTA2_HUMAN metastasis-associated protein 2 386 GATA-type; atypical. chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GGCGGCACTGCATGTTAGGTG 0.582 NA 11 48 0 0 0.010729 0 0 SNX32 254122 broad.mit.edu 37 11 65617697 65617697 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr11:65617697C>G uc001ofr.2 + 4 456 c.329C>G c.(328-330)TCT>TGT p.S110C SNX32_uc009yqt.2_3'UTR|SNX32_uc010rop.1_Missense_Mutation_p.L150V NM_152760 NP_689973 Q86XE0 SNX32_HUMAN sorting nexin 6B 110 PX. cell communication|protein transport phosphatidylinositol binding 0 READ - Rectum adenocarcinoma(159;0.171) GGGGACAGCTCTGTCACTCGG 0.597 NA 6 47 0 0 0.001984 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74915502 74915502 + Silent SNP T T A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr11:74915502T>A uc001owb.2 + 14 2394 c.2007T>A c.(2005-2007)GTT>GTA p.V669V SLCO2B1_uc010rrr.1_Silent_p.V525V|SLCO2B1_uc010rrs.1_Silent_p.V553V|SLCO2B1_uc001owc.2_Silent_p.V442V|SLCO2B1_uc001owd.2_Silent_p.V647V NM_007256 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, 669 Helical; Name=12; (Potential). sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity ovary(1)|breast(1) 2 Ergoloid mesylate(DB01049) TCGCCTTAGTTTTGGCTGTCC 0.547 NA 12 78 0 0 0.001368 0 0 RAB38 23682 broad.mit.edu 37 11 87847182 87847182 + Missense_Mutation SNP T T C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr11:87847182T>C uc001pcj.1 - 3 657 c.610A>G c.(610-612)AGC>GGC p.S204G NM_022337 NP_071732 P57729 RAB38_HUMAN RAB38 204 protein transport|small GTPase mediated signal transduction melanosome|plasma membrane GTP binding|GTPase activity upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CCAGAGCAGCTGGCAACCTTG 0.478 NA 20 100 0 0 0.007413 0 0 FOLH1B 219595 broad.mit.edu 37 11 89405072 89405072 + Nonsense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr11:89405072G>T uc001pda.2 + 5 725 c.199G>T c.(199-201)GGA>TGA p.G67* NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 67 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 TGTCATTCTGGGAGGTCACCG 0.413 NA 20 110 5.26018e-13 7.24774e-13 0.012319 1 0 FOLH1B 219595 broad.mit.edu 37 11 89405092 89405092 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr11:89405092G>C uc001pda.2 + 5 745 c.219G>C c.(217-219)TGG>TGC p.W73C NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 73 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 GGGACTCATGGGTGTTTGGTG 0.413 NA 22 123 0 0 0.00278 0 0 SLC36A4 120103 broad.mit.edu 37 11 92899090 92899090 + Silent SNP T T A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr11:92899090T>A uc001pdn.2 - 8 958 c.861A>T c.(859-861)ATA>ATT p.I287I SLC36A4_uc001pdm.2_Silent_p.I152I NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid 287 Helical; (Potential). L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity ovary(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TTACCACTCCTATGCCTTCAA 0.323 NA 6 24 0 0 0.001168 0 0 PIWIL4 143689 broad.mit.edu 37 11 94316682 94316682 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr11:94316682G>A uc001pfa.2 + 5 793 c.582G>A c.(580-582)GAG>GAA p.E194E PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN piwi-like 4 194 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding skin(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TGAAGAGGGAGCTGCCATCAA 0.418 NA 16 228 0 0 0.00499 0 0 GRIA4 2893 broad.mit.edu 37 11 105483079 105483079 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr11:105483079C>T uc001pix.2 + 3 611 c.165C>T c.(163-165)CCC>CCT p.P55P GRIA4_uc001piu.1_Silent_p.P55P|GRIA4_uc001piw.2_Silent_p.P55P|GRIA4_uc001piv.2_Silent_p.P55P|GRIA4_uc009yxk.1_Silent_p.P55P|GRIA4_uc001pit.2_Silent_p.P55P NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 55 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) ACACCAGCCCCAATGCGTCGG 0.408 NA 22 101 0 0 0.003954 0 0 TTC12 54970 broad.mit.edu 37 11 113230118 113230118 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr11:113230118G>A uc001pnu.2 + 17 1585 c.1480G>A c.(1480-1482)GAG>AAG p.E494K TTC12_uc001pnv.2_Missense_Mutation_p.E500K|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.E344K NM_017868 NP_060338 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 494 binding pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) CCTGTTCAGAGAGGTTATCTA 0.493 NA 18 131 0 0 0.008871 0 0 BUD13 84811 broad.mit.edu 37 11 116633907 116633907 + Missense_Mutation SNP T T A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr11:116633907T>A uc001ppn.2 - 4 432 c.398A>T c.(397-399)CAT>CTT p.H133L BUD13_uc001ppo.2_Missense_Mutation_p.H133L|BUD13_uc009yzc.2_Missense_Mutation_p.H133L NM_032725 NP_116114 Q9BRD0 BUD13_HUMAN BUD13 homolog isoform 1 133 Arg-rich. large_intestine(1)|pancreas(1) 2 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) TGGGGTACCATGACGGACCCT 0.537 NA 19 109 0 0 0.008871 0 0 UBE4A 9354 broad.mit.edu 37 11 118263480 118263480 + Nonsense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr11:118263480G>T uc001psw.2 + 19 3073 c.2944G>T c.(2944-2946)GAG>TAG p.E982* UBE4A_uc001psv.2_Nonsense_Mutation_p.E989* NM_004788 NP_004779 Q14139 UBE4A_HUMAN ubiquitination factor E4A 982 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 5 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) ACAACAGGAAGAGGAAACCTA 0.473 NA 24 104 5.45024e-15 7.65931e-15 0.00333 1 0 MLL 4297 broad.mit.edu 37 11 118359361 118359361 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr11:118359361C>T uc001pta.2 + 11 4388 c.4365C>T c.(4363-4365)TTC>TTT p.F1455F MLL_uc001ptb.2_Silent_p.F1455F|MLL_uc001pte.1_RNA NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1455 PHD-type 1. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GTGAGCCCTTCCACAAGTTTT 0.418 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 9 90 0 0 0.008291 0 0 TAS2R30 259293 broad.mit.edu 37 12 11286483 11286483 + Missense_Mutation SNP T T A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:11286483T>A uc009zhs.1 - 1 361 c.361A>T c.(361-363)ATA>TTA p.I121L PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_001097643 NP_001091112 type 2 taste receptor member 30 0 CTCCTCTTTATGCGAAGAAAA 0.413 NA 19 110 0 0 0.008871 0 0 GRIN2B 2904 broad.mit.edu 37 12 13715803 13715803 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:13715803G>A uc001rbt.2 - 13 4548 c.4369C>T c.(4369-4371)CCT>TCT p.P1457S NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1457 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTGTTGTTAGGCACACAGGGG 0.522 NA 10 123 0 0 0.008291 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906490 13906490 + Silent SNP G G A rs142203984 TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:13906490G>A uc001rbt.2 - 3 950 c.771C>T c.(769-771)ATC>ATT p.I257I NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 257 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.I257I(1) central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GACTGGGCACGATCCACGTGT 0.532 NA 5 45 0 0 0.00308 0 0 RECQL 5965 broad.mit.edu 37 12 21636334 21636334 + Nonsense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:21636334G>A uc001rex.2 - 7 1024 c.676C>T c.(676-678)CAG>TAG p.Q226* RECQL_uc001rey.2_Nonsense_Mutation_p.Q226* NM_032941 NP_116559 P46063 RECQ1_HUMAN RecQ protein-like 226 Helicase ATP-binding. 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 TGTCCCCACTGACTACAGCAG 0.388 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 12 101 0 0 0.001855 0 0 NELL2 4753 broad.mit.edu 37 12 45170870 45170870 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:45170870C>G uc001rog.2 - 7 1312 c.717G>C c.(715-717)CAG>CAC p.Q239H NELL2_uc001rof.3_Missense_Mutation_p.Q238H|NELL2_uc001roh.2_Missense_Mutation_p.Q239H|NELL2_uc009zkd.2_Missense_Mutation_p.Q238H|NELL2_uc010skz.1_Missense_Mutation_p.Q289H|NELL2_uc010sla.1_Missense_Mutation_p.Q262H|NELL2_uc001roi.1_Missense_Mutation_p.Q239H|NELL2_uc010slb.1_Missense_Mutation_p.Q238H|NELL2_uc001roj.2_Missense_Mutation_p.Q239H NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 239 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CCATGATTTTCTGCACAAGTC 0.393 NA 9 84 0 0 0.004482 0 0 ARID2 196528 broad.mit.edu 37 12 46233223 46233223 + Missense_Mutation SNP T T A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:46233223T>A uc001ros.1 + 11 1442 c.1442T>A c.(1441-1443)ATT>AAT p.I481N ARID2_uc001ror.2_Missense_Mutation_p.I481N|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Missense_Mutation_p.I108N|ARID2_uc001rot.1_Missense_Mutation_p.I127N NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 481 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTATCTGAAATTAGGCCACAA 0.423 NA 8 139 0 0 0.006214 0 0 FAM186B 84070 broad.mit.edu 37 12 49997097 49997097 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:49997097C>T uc001ruo.2 - 3 549 c.376G>A c.(376-378)GCT>ACT p.A126T FAM186B_uc010smk.1_Missense_Mutation_p.A36T NM_032130 NP_115506 Q8IYM0 F186B_HUMAN hypothetical protein LOC84070 126 protein complex ovary(1) 1 TCGTCCAGAGCTGCTGCTTCC 0.547 NA 7 53 0 0 0.00308 0 0 FAM186B 84070 broad.mit.edu 37 12 49997107 49997107 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:49997107C>T uc001ruo.2 - 3 539 c.366G>A c.(364-366)GAG>GAA p.E122E FAM186B_uc010smk.1_Silent_p.E32E NM_032130 NP_115506 Q8IYM0 F186B_HUMAN hypothetical protein LOC84070 122 protein complex ovary(1) 1 CTGCTGCTTCCTCTTCACTCT 0.552 NA 7 45 0 0 0.00308 0 0 POU6F1 5463 broad.mit.edu 37 12 51584291 51584291 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:51584291C>T uc001rxy.2 - 5 837 c.645G>A c.(643-645)CGG>CGA p.R215R POU6F1_uc001rxz.2_Silent_p.R215R|POU6F1_uc001rya.2_Silent_p.R215R NM_002702 NP_002693 Q14863 PO6F1_HUMAN POU class 6 homeobox 1 215 brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 CTTCCTGGTTCCGCAGTTCAG 0.572 NA 20 215 0 0 0.012319 0 0 DAZAP2 9802 broad.mit.edu 37 12 51636127 51636127 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:51636127G>C uc010snd.1 + 4 499 c.315G>C c.(313-315)TGG>TGC p.W105C DAZAP2_uc001ryb.2_Missense_Mutation_p.G109A|DAZAP2_uc010snc.1_Missense_Mutation_p.G49A|DAZAP2_uc010sne.1_Missense_Mutation_p.G99A|DAZAP2_uc010snf.1_Intron NM_001136266 NP_001129738 Q15038 DAZP2_HUMAN DAZ associated protein 2 isoform c Error:Variant_position_missing_in_Q15038_after_alignment WW domain binding 0 CCACCTCCTGGATGCCCTCCC 0.542 NA 33 462 0 0 0.002836 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54911422 54911422 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:54911422G>A uc001sgc.3 + 12 1280 c.1201G>A c.(1201-1203)GAC>AAC p.D401N NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.D351N NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 401 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 GGACTATGCTGACTCGTTAGT 0.493 NA 4 43 0 0 0.009096 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57868455 57868455 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:57868455G>T uc001sod.2 - 17 2146 c.1953C>A c.(1951-1953)AGC>AGA p.S651R ARHGAP9_uc001sny.2_RNA|ARHGAP9_uc001snz.2_Missense_Mutation_p.S377R|ARHGAP9_uc001soa.2_Missense_Mutation_p.S250R|ARHGAP9_uc001sob.2_Missense_Mutation_p.S561R|ARHGAP9_uc001soc.2_Missense_Mutation_p.S561R|ARHGAP9_uc001soe.1_Missense_Mutation_p.S640R NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 580 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding lung(1) 1 GBM - Glioblastoma multiforme(3;3.37e-34) CCAAGTTCCCGCTCACCCGAT 0.512 NA 9 126 0.000442599 0.000486284 0.006214 1 0 IL22 50616 broad.mit.edu 37 12 68647143 68647143 + Missense_Mutation SNP T T A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:68647143T>A uc001sty.1 - 1 139 c.86A>T c.(85-87)CAG>CTG p.Q29L IL22_uc010stb.1_Missense_Mutation_p.Q29L NM_020525 NP_065386 Q9GZX6 IL22_HUMAN interleukin 22 precursor 29 acute-phase response extracellular space cytokine activity|interleukin-22 receptor binding 0 Myeloproliferative disorder(1001;0.0255) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104) TGCTCCTCCCTGTACCAAGAG 0.567 NA 8 51 0 0 0.004482 0 0 SSH1 54434 broad.mit.edu 37 12 109186349 109186349 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:109186349C>G uc001tnm.2 - 14 1693 c.1606G>C c.(1606-1608)GAG>CAG p.E536Q SSH1_uc001tnl.2_Missense_Mutation_p.E224Q|SSH1_uc010sxg.1_Missense_Mutation_p.E547Q|SSH1_uc001tnn.3_Missense_Mutation_p.E536Q NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN slingshot 1 isoform 1 536 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(4) 4 GCCTCCCTCTCCGGATCCTCC 0.627 NA 6 91 0 0 0.001984 0 0 C12orf34 84915 broad.mit.edu 37 12 110206380 110206380 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:110206380G>C uc001tpd.1 + 3 1205 c.646G>C c.(646-648)GCA>CCA p.A216P MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Missense_Mutation_p.A216P NM_032829 NP_116218 Q5U5X8 CL034_HUMAN hypothetical protein LOC84915 216 Pro-rich. ovary(1) 1 CCCGGGCGCCGCACCCCCTGC 0.721 NA 3 22 0 0 0.009096 0 0 CUX2 23316 broad.mit.edu 37 12 111758260 111758260 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:111758260C>G uc001tsa.1 + 17 2600 c.2447C>G c.(2446-2448)TCT>TGT p.S816C NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 816 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 TCTGGCTACTCTGGCCAGCCC 0.756 NA 6 24 0 0 0.001168 0 0 CUX2 23316 broad.mit.edu 37 12 111776136 111776136 + Silent SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:111776136C>A uc001tsa.1 + 20 3396 c.3243C>A c.(3241-3243)TCC>TCA p.S1081S NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1081 CUT 3. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 CACAGGGCTCCGTGTCTGACC 0.622 NA 6 62 0.00198382 0.00211908 0.001984 1 0 NAA25 80018 broad.mit.edu 37 12 112528570 112528570 + Silent SNP T T A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:112528570T>A uc001ttm.2 - 3 263 c.243A>T c.(241-243)TCA>TCT p.S81S NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Silent_p.S53S|NAA25_uc009zwa.1_Silent_p.S81S NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 81 TPR 3. cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 GTGCCTGCAGTGAGTTGTCAT 0.428 NA 11 125 0 0 0.001368 0 0 RBM19 9904 broad.mit.edu 37 12 114377779 114377779 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:114377779G>C uc009zwi.2 - 15 2068 c.1924C>G c.(1924-1926)CTG>GTG p.L642V RBM19_uc001tvn.3_Missense_Mutation_p.L642V|RBM19_uc001tvm.2_Missense_Mutation_p.L642V NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 642 RRM 4. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) GAATAGGCCAGATGCCTGAAG 0.612 NA 7 52 0 0 0.004482 0 0 CLIP1 6249 broad.mit.edu 37 12 122862308 122862308 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr12:122862308G>A uc001ucg.1 - 2 391 c.285C>T c.(283-285)CCC>CCT p.P95P CLIP1_uc001uch.1_Silent_p.P95P|CLIP1_uc001uci.1_Silent_p.P95P|CLIP1_uc010tae.1_Silent_p.P95P NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 95 CAP-Gly 1. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TCTTGCCTATGGGTTCATCTA 0.463 NA 10 141 0 0 0.008291 0 0 POSTN 10631 broad.mit.edu 37 13 38145512 38145512 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr13:38145512G>T uc001uwo.3 - 18 2291 c.2173C>A c.(2173-2175)CAT>AAT p.H725N POSTN_uc010tet.1_Missense_Mutation_p.H226N|POSTN_uc001uwp.3_Intron|POSTN_uc001uwr.2_Missense_Mutation_p.H698N|POSTN_uc001uwq.2_Intron|POSTN_uc010teu.1_Missense_Mutation_p.H698N|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 725 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) GCACCTCCATGGATCACTTCA 0.378 NA 17 60 1.02788e-11 1.39357e-11 0.00499 1 0 LOC220429 220429 broad.mit.edu 37 13 50466975 50466975 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr13:50466975G>C uc001vdk.2 + 1 2431 c.2249G>C c.(2248-2250)AGA>ACA p.R750T NR_003268 Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026). 0 TTTGCAATGAGAAATGTCTGT 0.517 NA 4 57 0 0 0.009096 0 0 ATP7B 540 broad.mit.edu 37 13 52539113 52539113 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr13:52539113C>A uc001vfw.2 - 5 1921 c.1764G>T c.(1762-1764)AGG>AGT p.R588S ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.R588S|ATP7B_uc001vfy.2_Missense_Mutation_p.R477S|ATP7B_uc010tgt.1_Missense_Mutation_p.R588S|ATP7B_uc010tgu.1_Missense_Mutation_p.R588S|ATP7B_uc010tgv.1_Missense_Mutation_p.R588S|ATP7B_uc010tgw.1_Intron NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 588 HMA 6.|Cytoplasmic (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) TGCCATTTGTCCTCGTGAGTT 0.498 NA Wilson_disease 20 69 1.33834e-09 1.7636e-09 0.007413 1 0 PCDH9 5101 broad.mit.edu 37 13 67802360 67802360 + Silent SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr13:67802360C>A uc001vik.2 - 2 905 c.213G>T c.(211-213)GGG>GGT p.G71G PCDH9_uc001vil.2_Silent_p.G71G|PCDH9_uc010thl.1_Silent_p.G71G|PCDH9_uc001vin.3_Silent_p.G71G NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 71 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) AAGGGGCATCCCCAGCTTTAG 0.488 NA 11 53 4.68919e-08 5.9387e-08 0.008291 1 0 COL4A2 1284 broad.mit.edu 37 13 111118389 111118389 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr13:111118389G>A uc001vqx.2 + 26 2307 c.2018G>A c.(2017-2019)AGA>AAA p.R673K NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 673 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGAGGTGACAGACAGGAGGCC 0.498 NA 7 53 0 0 0.004482 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113176788 113176788 + Nonsense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr13:113176788G>A uc001vse.1 - 14 1778 c.1591C>T c.(1591-1593)CAG>TAG p.Q531* TUBGCP3_uc010tjq.1_Nonsense_Mutation_p.Q521*|TUBGCP3_uc001vsf.2_Nonsense_Mutation_p.Q531* NM_006322 NP_006313 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 531 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) ATCTTCCCCTGAAATGCATTT 0.423 NA 7 74 0 0 0.00308 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215671 20215671 + Missense_Mutation SNP T T A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr14:20215671T>A uc010tkt.1 + 1 85 c.85T>A c.(85-87)TTA>ATA p.L29I NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 29 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATTTCTCTTCTTACTATTTTT 0.383 NA 30 275 0 0 0.012213 0 0 SLC7A7 9056 broad.mit.edu 37 14 23243287 23243287 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr14:23243287G>A uc001wgr.3 - 9 1422 c.1284C>T c.(1282-1284)ACC>ACT p.T428T SLC7A7_uc001wgs.3_Silent_p.T428T|SLC7A7_uc001wgt.3_Silent_p.T428T|SLC7A7_uc001wgu.3_Silent_p.T428T|SLC7A7_uc001wgv.3_Silent_p.T428T NM_003982 NP_003973 Q9UM01 YLAT1_HUMAN solute carrier family 7 member 7 428 Helical; (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity ovary(1)|breast(1) 2 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) CCAGGAAGATGGTGCAGAGGC 0.478 NA 11 50 0 0 0.008291 0 0 NYNRIN 57523 broad.mit.edu 37 14 24878023 24878023 + Silent SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr14:24878023G>T uc001wpf.3 + 4 1341 c.1023G>T c.(1021-1023)CTG>CTT p.L341L NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 341 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 TATCAGCCCTGGGTGTGTGCC 0.582 NA 6 31 2.0095e-06 2.38769e-06 0.001984 1 0 LRFN5 145581 broad.mit.edu 37 14 42360646 42360646 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr14:42360646G>T uc001wvm.2 + 4 2777 c.1579G>T c.(1579-1581)GGC>TGC p.G527C LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 527 Extracellular (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GTTTTTGGGAGGCACCATGAT 0.428 NA HNSCC(30;0.082) 10 218 2.68362e-12 3.67369e-12 0.001368 1 0 FANCM 57697 broad.mit.edu 37 14 45644916 45644916 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr14:45644916C>T uc001wwd.3 + 14 3058 c.2959C>T c.(2959-2961)CTA>TTA p.L987L FANCM_uc010anf.2_Silent_p.L961L|FANCM_uc001wwe.3_Silent_p.L523L|FANCM_uc010ang.2_Silent_p.L201L NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 987 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 AAAAGAGGTACTAGCTAATGT 0.348 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 9 85 0 0 0.008291 0 0 KTN1 3895 broad.mit.edu 37 14 56085908 56085908 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr14:56085908G>A uc001xcb.2 + 6 1143 c.841G>A c.(841-843)GAA>AAA p.E281K KTN1_uc001xce.2_Missense_Mutation_p.E281K|KTN1_uc001xcc.2_Missense_Mutation_p.E281K|KTN1_uc001xcd.2_Missense_Mutation_p.E281K|KTN1_uc010trb.1_Missense_Mutation_p.E281K|KTN1_uc001xcf.1_Missense_Mutation_p.E281K NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 281 Lumenal (Potential). microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 AGAAAATGCTGAAGTGAAGTT 0.338 NA T RET papillary thryoid 12 70 0 0 0.010729 0 0 PELI2 57161 broad.mit.edu 37 14 56746482 56746482 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr14:56746482C>T uc001xch.2 + 3 582 c.296C>T c.(295-297)ACG>ATG p.T99M NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN pellino 2 99 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding ovary(1) 1 GATAAGGATACGGATATGTTT 0.333 NA 15 126 0 0 0.004007 0 0 EXD2 55218 broad.mit.edu 37 14 69695691 69695691 + Silent SNP T T A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr14:69695691T>A uc001xkt.2 + 5 776 c.117T>A c.(115-117)GTT>GTA p.V39V EXD2_uc001xku.2_5'UTR|EXD2_uc001xkv.2_Silent_p.V164V|EXD2_uc001xkw.2_Silent_p.V39V|EXD2_uc001xkx.2_RNA|EXD2_uc010aqt.2_Silent_p.V164V|EXD2_uc010tte.1_Silent_p.V164V|EXD2_uc001xky.2_Silent_p.V39V NM_018199 NP_060669 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 39 3'-5' exonuclease. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding 0 TTTTGAAAGTTGGAGTGGGAT 0.512 NA 10 74 0 0 0.006214 0 0 EIF2B2 8892 broad.mit.edu 37 14 75469779 75469779 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr14:75469779G>A uc001xrc.1 + 1 168 c.86G>A c.(85-87)CGC>CAC p.R29H NM_014239 NP_055054 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, 29 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00661) GGTGGGCCGCGCAGCTCCGAG 0.662 NA 7 51 0 0 0.001984 0 0 EIF2B2 8892 broad.mit.edu 37 14 75474434 75474434 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr14:75474434G>A uc001xrc.1 + 7 923 c.841G>A c.(841-843)GAA>AAA p.E281K NM_014239 NP_055054 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, 281 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00661) GTTCCCCAATGAAGAAGACTC 0.194 NA 6 66 0 0 0.00308 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416366 105416366 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr14:105416366C>T uc010axc.1 - 7 5542 c.5422G>A c.(5422-5424)GAC>AAC p.D1808N AHNAK2_uc001ypx.2_Missense_Mutation_p.D1708N NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1808 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AGGGACAGGTCACCCTCCAGC 0.627 NA 18 228 0 0 0.007413 0 0 C15orf2 23742 broad.mit.edu 37 15 24923219 24923219 + Silent SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr15:24923219C>A uc001ywo.2 + 1 2679 c.2205C>A c.(2203-2205)CCC>CCA p.P735P NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 735 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) ACACACAACCCAGCGGCAACA 0.552 NA 15 109 7.93312e-07 9.58774e-07 0.00245 1 0 OCA2 4948 broad.mit.edu 37 15 28211876 28211876 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr15:28211876C>A uc001zbh.3 - 15 1706 c.1596G>T c.(1594-1596)TGG>TGT p.W532C OCA2_uc010ayv.2_Missense_Mutation_p.W508C NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 532 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GCTTTCTGTTCCAGTAAAGGA 0.443 NA Oculocutaneous_Albinism 18 65 3.51602e-12 4.79766e-12 0.008871 1 0 TRPM1 4308 broad.mit.edu 37 15 31324995 31324995 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr15:31324995C>A uc001zfm.2 - 21 2911 c.2783G>T c.(2782-2784)CGG>CTG p.R928L TRPM1_uc010azy.2_Missense_Mutation_p.R835L|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 928 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GTAGATCACCCGGCCATAGCC 0.483 NA 13 94 0.00010058 0.000112852 0.001368 1 0 MEIS2 4212 broad.mit.edu 37 15 37242563 37242563 + Silent SNP C C G rs140793410 TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr15:37242563C>G uc001zjr.2 - 9 1976 c.939G>C c.(937-939)GCG>GCC p.A313A MEIS2_uc001zjl.2_Silent_p.A300A|MEIS2_uc010ucj.1_Silent_p.A300A|MEIS2_uc001zjm.2_Silent_p.A225A|MEIS2_uc001zjn.2_Silent_p.A167A|MEIS2_uc001zjo.2_Silent_p.A313A|MEIS2_uc001zjp.2_Silent_p.A313A|MEIS2_uc001zjs.2_Silent_p.A313A|MEIS2_uc001zju.2_Silent_p.A300A|MEIS2_uc001zjt.2_Silent_p.A313A NM_170675 NP_733775 O14770 MEIS2_HUMAN Meis homeobox 2 isoform c 313 Homeobox; TALE-type. negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2) 2 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) CTGTGTCTTGCGCTAACTGTT 0.373 NA 11 199 0 0 0.003163 0 0 TRIM69 140691 broad.mit.edu 37 15 45028843 45028843 + Translation_Start_Site SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr15:45028843C>A uc001zuf.2 + 2 836 c.-59C>A c.(-61--57)TCCTG>TCATG TRIM69_uc001zui.1_Translation_Start_Site|TRIM69_uc010bdy.1_Translation_Start_Site|TRIM69_uc001zug.1_Translation_Start_Site|TRIM69_uc001zuh.1_Translation_Start_Site NM_182985 NP_892030 Q86WT6 TRI69_HUMAN tripartite motif-containing 69 isoform a apoptosis nuclear speck zinc ion binding 0 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) TGCAGCCATCCTGGGCCTGCT 0.512 Pancreas(84;519 1450 1802 20427 34706) NA 8 27 1.06961e-07 1.35059e-07 0.00308 1 0 SEMA6D 80031 broad.mit.edu 37 15 48062801 48062801 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr15:48062801G>T uc010bek.2 + 19 2401 c.2041G>T c.(2041-2043)GTG>TTG p.V681L SEMA6D_uc001zvw.2_Missense_Mutation_p.V619L|SEMA6D_uc001zvy.2_Missense_Mutation_p.V681L|SEMA6D_uc001zvz.2_Missense_Mutation_p.V625L|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.V619L|SEMA6D_uc001zwc.2_Missense_Mutation_p.V606L NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 681 Helical; (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CATTGCAGGTGTGGCAGTATA 0.473 NA 15 83 4.75885e-15 6.70998e-15 0.00499 1 0 ATP8B4 79895 broad.mit.edu 37 15 50271905 50271905 + Nonsense_Mutation SNP C C A rs140655722 TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr15:50271905C>A uc001zxu.2 - 12 1085 c.943G>T c.(943-945)GGA>TGA p.G315* ATP8B4_uc010ber.2_Nonsense_Mutation_p.G188*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.G188*|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 315 Extracellular (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CTCTTCTCTCCTTCATTCCAA 0.378 NA 31 144 9.78485e-24 1.41746e-23 0.002836 1 0 MNS1 55329 broad.mit.edu 37 15 56736859 56736859 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr15:56736859C>T uc002adr.2 - 5 634 c.469G>A c.(469-471)GAA>AAA p.E157K MNS1_uc010bfo.2_Missense_Mutation_p.E25K|TEX9_uc002adp.2_Intron|TEX9_uc010ugl.1_Intron NM_018365 NP_060835 Q8NEH6 MNS1_HUMAN meiosis-specific nuclear structural 1 157 Potential.|Glu-rich. meiosis ovary(1) 1 all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101) TTGGCTATTTCAGCATCACGT 0.313 NA 16 170 0 0 0.007413 0 0 ZNF609 23060 broad.mit.edu 37 15 64967177 64967177 + Silent SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr15:64967177C>A uc002ann.2 + 4 2124 c.2124C>A c.(2122-2124)CCC>CCA p.P708P NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 708 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 AGCCCAAGCCCACTGTTATGG 0.517 NA 12 162 7.93312e-07 9.58774e-07 0.00245 1 0 ZNF609 23060 broad.mit.edu 37 15 64967739 64967739 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr15:64967739G>C uc002ann.2 + 4 2686 c.2686G>C c.(2686-2688)GAG>CAG p.E896Q NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 896 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 CCAAGGCTTTGAGAGTTACTA 0.507 NA 9 102 0 0 0.004482 0 0 IGDCC4 57722 broad.mit.edu 37 15 65684634 65684634 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr15:65684634G>A uc002aou.1 - 11 2170 c.1960C>T c.(1960-1962)CAC>TAC p.H654Y IGDCC4_uc002aot.1_Missense_Mutation_p.H242Y NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 654 Extracellular (Potential).|Fibronectin type-III 3. integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 TGGGTGGGGTGAGGGGGTGGC 0.637 NA 7 34 0 0 0.001984 0 0 ACAN 176 broad.mit.edu 37 15 89402294 89402294 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr15:89402294G>C uc010upo.1 + 12 6852 c.6478G>C c.(6478-6480)GAG>CAG p.E2160Q ACAN_uc010upp.1_Missense_Mutation_p.E2160Q|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 2160 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TCAAGAAGGCGAGGCGTCCGC 0.577 NA 6 58 0 0 0.001168 0 0 RGS11 8786 broad.mit.edu 37 16 321456 321456 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr16:321456C>T uc002cgj.1 - 11 694 c.691G>A c.(691-693)GAG>AAG p.E231K RGS11_uc002cgi.1_Missense_Mutation_p.E210K|RGS11_uc010bqs.1_Missense_Mutation_p.E220K|RGS11_uc002cgk.1_Missense_Mutation_p.E47K NM_183337 NP_899180 O94810 RGS11_HUMAN regulator of G-protein signalling 11 isoform 1 231 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity lung(1)|pancreas(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) CTGAAGTACTCGATCTAGGAT 0.622 NA 5 34 0 0 0.000602 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270419 1270419 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr16:1270419G>A uc002cks.2 + 35 6735 c.6487G>A c.(6487-6489)GGG>AGG p.G2163R CACNA1H_uc002ckt.2_Missense_Mutation_p.G2157R|CACNA1H_uc002cku.2_Missense_Mutation_p.G858R|CACNA1H_uc010brj.2_Missense_Mutation_p.G874R|CACNA1H_uc002ckv.2_Missense_Mutation_p.G852R NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 2163 Cytoplasmic (Potential). 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) GCTGGGCAGCGGGGAGCCTGG 0.716 NA 5 25 0 0 0.000602 0 0 SPSB3 90864 broad.mit.edu 37 16 1828177 1828177 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr16:1828177G>A uc002cmr.2 - 3 483 c.450C>T c.(448-450)TTC>TTT p.F150F SPSB3_uc002cms.2_Silent_p.F22F|SPSB3_uc002cmt.2_Silent_p.F22F|SPSB3_uc002cmu.2_Silent_p.F150F|SPSB3_uc002cmv.2_Silent_p.F22F|SPSB3_uc010uvm.1_3'UTR NM_080861 NP_543137 Q6PJ21 SPSB3_HUMAN splA/ryanodine receptor domain and SOCS box 150 B30.2/SPRY. intracellular signal transduction 0 TGATCTCCCAGAAGTGCTGGC 0.637 NA 4 19 0 0 0.009096 0 0 PKD1 5310 broad.mit.edu 37 16 2153583 2153583 + Silent SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr16:2153583G>T uc002cos.1 - 23 8684 c.8475C>A c.(8473-8475)CTC>CTA p.L2825L PKD1_uc002cot.1_Silent_p.L2825L|PKD1_uc010bse.1_RNA NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 2825 Extracellular (Potential).|REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CCAGAAAGATGAGCTGCACCA 0.622 NA 5 82 4.096e-09 5.34756e-09 0.001168 1 0 SRRM2 23524 broad.mit.edu 37 16 2812607 2812607 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr16:2812607G>T uc002crk.2 + 11 2627 c.2078G>T c.(2077-2079)CGG>CTG p.R693L SRRM2_uc002crj.1_Missense_Mutation_p.R597L|SRRM2_uc002crl.1_Missense_Mutation_p.R693L|SRRM2_uc010bsu.1_Missense_Mutation_p.R597L NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 693 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GGGAGGTCTCGGTCTAGGACA 0.567 NA 14 70 7.93312e-07 9.58774e-07 0.00245 1 0 ZNF213 7760 broad.mit.edu 37 16 3190770 3190770 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr16:3190770G>T uc010uws.1 + 6 1249 c.802G>T c.(802-804)GTG>TTG p.V268L ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Missense_Mutation_p.V268L|ZNF213_uc010uwt.1_3'UTR NM_004220 NP_004211 O14771 ZN213_HUMAN zinc finger protein 213 268 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGGCAGCGACGTGACTGTGTC 0.697 NA 6 48 2.0095e-06 2.38769e-06 0.001984 1 0 USP7 7874 broad.mit.edu 37 16 8998387 8998387 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr16:8998387G>T uc002czl.2 - 15 1808 c.1609C>A c.(1609-1611)CCT>ACT p.P537T USP7_uc010uyk.1_Missense_Mutation_p.P438T|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.P438T|USP7_uc002czk.2_Missense_Mutation_p.P521T|USP7_uc010uyl.1_Intron NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 537 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 AACTGCTGAGGAATATCATGG 0.522 NA 5 77 0.00198382 0.00211908 0.001984 1 0 GPRC5B 51704 broad.mit.edu 37 16 19873227 19873227 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr16:19873227G>C uc002dgt.2 - 3 1207 c.1099C>G c.(1099-1101)CCC>GCC p.P367A GPRC5B_uc010vav.1_Missense_Mutation_p.P393A NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, 367 Cytoplasmic (Potential). lung(1)|breast(1)|skin(1) 3 GGAGCGCTGGGTCTTTTCCCC 0.547 NA 5 62 0 0 0.000602 0 0 SLC5A11 115584 broad.mit.edu 37 16 24902295 24902295 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr16:24902295C>A uc002dmu.2 + 9 1002 c.770C>A c.(769-771)GCC>GAC p.A257D SLC5A11_uc002dms.2_Missense_Mutation_p.A193D|SLC5A11_uc010vcd.1_Missense_Mutation_p.A222D|SLC5A11_uc002dmt.2_Intron|SLC5A11_uc010vce.1_Missense_Mutation_p.A187D|SLC5A11_uc010bxt.2_Missense_Mutation_p.A193D NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 257 Extracellular (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) CGGGAAGATGCCTTCCATATT 0.587 NA 47 186 4.01344e-20 5.77444e-20 0.00361 1 0 PHKB 5257 broad.mit.edu 37 16 47623005 47623005 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr16:47623005G>A uc002eev.3 + 10 1112 c.1060G>A c.(1060-1062)GAA>AAA p.E354K PHKB_uc002eeu.3_Missense_Mutation_p.E347K NM_000293 NP_000284 Q93100 KPBB_HUMAN phosphorylase kinase, beta isoform a 354 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity ovary(1)|large_intestine(1)|breast(1) 3 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) CAAGCCAGCTGAAATTAAGGT 0.219 NA 4 61 0 0 0.009096 0 0 ABCC11 85320 broad.mit.edu 37 16 48261806 48261806 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr16:48261806C>T uc002eff.1 - 3 656 c.306G>A c.(304-306)CCG>CCA p.P102P ABCC11_uc002efg.1_Silent_p.P102P|ABCC11_uc002efh.1_Silent_p.P102P|ABCC11_uc010vgl.1_Silent_p.P102P NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 102 Cytoplasmic (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GGATCATGAGCGGGGTGAGCC 0.537 NA Cerumen_Type 13 99 0 0 0.001368 0 0 SLC12A3 6559 broad.mit.edu 37 16 56920945 56920945 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr16:56920945G>T uc010ccm.2 + 17 2147 c.2118G>T c.(2116-2118)AAG>AAT p.K706N SLC12A3_uc002ekd.3_Missense_Mutation_p.K706N|SLC12A3_uc010ccn.2_Missense_Mutation_p.K705N NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 706 Cytoplasmic (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GGAAGATCAAGGCCTTCTACT 0.612 NA 5 41 5.9392e-07 7.28198e-07 0.001168 1 0 CNOT1 23019 broad.mit.edu 37 16 58568128 58568128 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr16:58568128C>A uc002env.2 - 40 6111 c.5818G>T c.(5818-5820)GTT>TTT p.V1940F CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.V1935F|CNOT1_uc002ent.2_5'Flank|CNOT1_uc010vik.1_Missense_Mutation_p.V897F NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1940 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) ATGAGTCGAACAAAGGCATCC 0.493 NA 14 36 7.93312e-07 9.58774e-07 0.00245 1 0 NFATC3 4775 broad.mit.edu 37 16 68225105 68225105 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr16:68225105G>T uc002evo.1 + 9 2743 c.2533G>T c.(2533-2535)GGC>TGC p.G845C NFATC3_uc010vkl.1_Missense_Mutation_p.G366C|NFATC3_uc010vkm.1_Missense_Mutation_p.G366C|NFATC3_uc010vkn.1_Missense_Mutation_p.G366C|NFATC3_uc010vko.1_Missense_Mutation_p.G366C|NFATC3_uc010vkp.1_Missense_Mutation_p.G366C|NFATC3_uc010vkq.1_Missense_Mutation_p.G366C|NFATC3_uc002evl.2_Missense_Mutation_p.G366C|NFATC3_uc002evk.2_Missense_Mutation_p.G845C|NFATC3_uc002evm.1_Missense_Mutation_p.G845C|NFATC3_uc002evn.1_Missense_Mutation_p.G845C|NFATC3_uc010vkr.1_Missense_Mutation_p.G366C|NFATC3_uc010vks.1_Missense_Mutation_p.G366C|NFATC3_uc010vkt.1_Missense_Mutation_p.G366C|NFATC3_uc010vku.1_Missense_Mutation_p.G366C|NFATC3_uc010vkv.1_Missense_Mutation_p.G366C|NFATC3_uc010vkw.1_Missense_Mutation_p.G366C|NFATC3_uc010vkx.1_Missense_Mutation_p.G366C|NFATC3_uc010vky.1_Missense_Mutation_p.G366C|NFATC3_uc010vkz.1_Missense_Mutation_p.G366C|NFATC3_uc010vla.1_Missense_Mutation_p.G366C|NFATC3_uc010vlb.1_Missense_Mutation_p.G366C|NFATC3_uc010vlc.1_Missense_Mutation_p.G366C NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 845 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) AGTGAATCTTGGCTGTCAACC 0.423 NA 39 178 9.62906e-15 1.34871e-14 0.00623 1 0 FTSJD1 55783 broad.mit.edu 37 16 71319478 71319478 + Missense_Mutation SNP A A G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr16:71319478A>G uc010cga.2 - 3 752 c.346T>C c.(346-348)TGT>CGT p.C116R FTSJD1_uc002ezy.3_Missense_Mutation_p.C116R|FTSJD1_uc002ezz.3_Missense_Mutation_p.C116R NM_001099642 NP_001093112 Q8IYT2 FTSJ1_HUMAN FtsJ methyltransferase domain containing 1 116 integral to membrane methyltransferase activity|nucleic acid binding skin(1) 1 TGGAACTTACACCATGCTTGA 0.413 NA 20 75 0 0 0.007413 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76513396 76513396 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr16:76513396G>T uc002feu.1 + 14 2228 c.1843G>T c.(1843-1845)GGT>TGT p.G615C CNTNAP4_uc002fev.1_Missense_Mutation_p.G479C|CNTNAP4_uc010chb.1_Missense_Mutation_p.G542C|CNTNAP4_uc002fex.1_Missense_Mutation_p.G618C|CNTNAP4_uc002few.2_Missense_Mutation_p.G590C NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 615 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 AGATGGAAGTGGTCCCCTGGA 0.338 NA 25 90 4.59853e-10 6.11691e-10 0.005443 1 0 CDK10 8558 broad.mit.edu 37 16 89758876 89758876 + Missense_Mutation SNP A A C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr16:89758876A>C uc010cio.2 + 6 480 c.437A>C c.(436-438)CAG>CCG p.Q146P CDK10_uc010cip.2_Missense_Mutation_p.Q75P|CDK10_uc010vpl.1_Missense_Mutation_p.Q140P|CDK10_uc002fob.2_Missense_Mutation_p.Q75P|CDK10_uc002fod.2_Missense_Mutation_p.Q75P|CDK10_uc002foe.2_Missense_Mutation_p.Q75P|CDK10_uc002fof.2_Missense_Mutation_p.Q75P|CDK10_uc002fog.3_Missense_Mutation_p.Q75P|CDK10_uc002foh.3_Missense_Mutation_p.Q75P|CDK10_uc002foi.2_5'Flank NM_052988 NP_443714 Q15131 CDK10_HUMAN cyclin-dependent kinase 10 isoform a 146 Protein kinase. negative regulation of cell proliferation|traversing start control point of mitotic cell cycle ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(1) 1 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0276) ATCGTGCTGCAGGTGCTCCGG 0.597 NA 7 43 0 0 0.001984 0 0 SPNS3 201305 broad.mit.edu 37 17 4337360 4337360 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr17:4337360C>T uc002fxt.2 + 1 142 c.98C>T c.(97-99)ACG>ATG p.T33M SPNS3_uc002fxu.2_Translation_Start_Site NM_182538 NP_872344 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 33 lipid transport|transmembrane transport integral to membrane large_intestine(1) 1 CCTCCCATCACGCCCACCTCC 0.657 NA 10 67 0 0 0.006214 0 0 WSCD1 23302 broad.mit.edu 37 17 6023892 6023892 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr17:6023892G>T uc010cli.2 + 9 2018 c.1639G>T c.(1639-1641)GAC>TAC p.D547Y WSCD1_uc002gcn.2_Missense_Mutation_p.D547Y|WSCD1_uc002gco.2_Missense_Mutation_p.D547Y|WSCD1_uc010clj.2_Missense_Mutation_p.D238Y NM_015253 NP_056068 Q658N2 WSCD1_HUMAN WSC domain containing 1 547 integral to membrane sulfotransferase activity 0 GGAGATGAAAGACTTGATCAA 0.652 NA 10 41 2.17888e-05 2.51135e-05 0.006214 1 0 TMEM95 339168 broad.mit.edu 37 17 7258657 7258657 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr17:7258657G>T uc002ggh.1 + 1 161 c.134G>T c.(133-135)TGT>TTT p.C45F TMEM95_uc002ggf.1_Missense_Mutation_p.C45F|TMEM95_uc002ggg.1_Missense_Mutation_p.C45F NM_198154 NP_937797 Q3KNT9 TMM95_HUMAN transmembrane protein 95 45 Extracellular (Potential). integral to membrane 0 Prostate(122;0.173) CAGAAGGAATGTGGGGCCTCC 0.652 NA 7 33 1.26484e-09 1.67197e-09 0.00308 1 0 DNAH2 146754 broad.mit.edu 37 17 7701598 7701598 + Missense_Mutation SNP A A T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr17:7701598A>T uc002giu.1 + 53 8368 c.8354A>T c.(8353-8355)CAG>CTG p.Q2785L NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2785 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACCACCTTCCAGATCGAGGTC 0.557 NA 4 35 0 0 0.009096 0 0 CHD3 1107 broad.mit.edu 37 17 7803213 7803213 + Splice_Site SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr17:7803213G>A uc002gje.2 + 16 2695 c.2545_splice c.e16-1 p.R849_splice CHD3_uc002gjd.2_Splice_Site_p.R908_splice|CHD3_uc002gjf.2_Splice_Site_p.R849_splice NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) TATGTTGGCAGAGGGAGGCAC 0.537 NA 8 48 0 0 0.008291 0 0 ALOXE3 59344 broad.mit.edu 37 17 8018293 8018293 + Silent SNP A A G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr17:8018293A>G uc010cnr.2 - 5 887 c.517T>C c.(517-519)TTG>CTG p.L173L ALOXE3_uc002gka.2_Silent_p.L329L|ALOXE3_uc010vuo.1_Silent_p.L305L|ALOXE3_uc010vup.1_RNA NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 isoform 2 173 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity skin(3)|lung(1)|central_nervous_system(1) 5 GTCTTTGTCAAGGCAAATTTC 0.507 NA 19 191 0 0 0.012319 0 0 WDR16 146845 broad.mit.edu 37 17 9503470 9503470 + Missense_Mutation SNP T T A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr17:9503470T>A uc002gly.2 + 6 792 c.723T>A c.(721-723)GAT>GAA p.D241E WDR16_uc002glz.2_Missense_Mutation_p.D173E|WDR16_uc010coc.2_Missense_Mutation_p.D251E NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 241 cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 TGCTGACAGATGTTGGGCCTG 0.448 NA 17 143 0 0 0.00499 0 0 KIAA0100 9703 broad.mit.edu 37 17 26961560 26961560 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr17:26961560G>A uc002hbu.2 - 16 3144 c.3045C>T c.(3043-3045)CTC>CTT p.L1015L NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 1015 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) CATTGCACTTGAGCATTCGAC 0.498 NA 5 85 0 0 0.001168 0 0 EFCAB5 374786 broad.mit.edu 37 17 28405416 28405416 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr17:28405416G>T uc002het.2 + 15 3113 c.2921G>T c.(2920-2922)AGG>ATG p.R974M EFCAB5_uc010cse.2_Missense_Mutation_p.R729M|EFCAB5_uc010csf.2_Intron NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 974 calcium ion binding ovary(1)|skin(1) 2 GAGAGTCTGAGGAATTCTGCC 0.493 NA 23 80 1.1804e-14 1.64788e-14 0.003954 1 0 NF1 4763 broad.mit.edu 37 17 29559717 29559717 + Splice_Site SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr17:29559717G>T uc002hgg.2 + 26 3648 c.3315_splice c.e26-1 p.K1105_splice NF1_uc002hgh.2_Splice_Site_p.K1105_splice|NF1_uc010csn.1_Splice_Site_p.K965_splice|NF1_uc002hgi.1_Splice_Site_p.K138_splice NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTATTTCTCAGATACTTCACA 0.418 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 17 27 9.16793e-09 1.19324e-08 0.00499 1 0 IKZF3 22806 broad.mit.edu 37 17 37985700 37985700 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr17:37985700G>C uc002hsu.2 - 3 165 c.103C>G c.(103-105)CAT>GAT p.H35D IKZF3_uc002htd.2_Intron|IKZF3_uc010cwd.2_Missense_Mutation_p.H35D|IKZF3_uc002hsv.2_Intron|IKZF3_uc010cwe.2_Missense_Mutation_p.H35D|IKZF3_uc010cwf.2_Missense_Mutation_p.H35D|IKZF3_uc010cwg.2_Missense_Mutation_p.H35D|IKZF3_uc002hsw.2_Missense_Mutation_p.H35D|IKZF3_uc002hsx.2_Missense_Mutation_p.H35D|IKZF3_uc002hsy.2_Missense_Mutation_p.H35D|IKZF3_uc002hsz.2_Missense_Mutation_p.H35D|IKZF3_uc002hta.2_Missense_Mutation_p.H35D|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.H35D|IKZF3_uc002htc.2_5'UTR NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN aiolos isoform 1 35 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2)|kidney(2)|skin(2) 6 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TCCATTTCATGAGATTTGGTT 0.378 NA 11 124 0 0 0.001368 0 0 KIF2B 84643 broad.mit.edu 37 17 51901154 51901154 + Missense_Mutation SNP G G T rs142732898 byFrequency TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr17:51901154G>T uc002iua.2 + 1 916 c.760G>T c.(760-762)GAC>TAC p.D254Y uc010wna.1_Intron NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 254 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 GCAAAAGGTGGACCTCACTCG 0.547 NA 15 30 6.94344e-10 9.20714e-10 0.006122 1 0 RNF43 54894 broad.mit.edu 37 17 56434870 56434870 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr17:56434870G>A uc002iwf.2 - 8 4223 c.2267C>T c.(2266-2268)CCA>CTA p.P756L RNF43_uc010wnv.1_Missense_Mutation_p.P715L|RNF43_uc002iwh.3_Missense_Mutation_p.P756L|RNF43_uc002iwg.3_Missense_Mutation_p.P756L|RNF43_uc010dcw.2_Missense_Mutation_p.P629L NM_017763 NP_060233 Q68DV7 RNF43_HUMAN ring finger protein 43 precursor 756 Pro-rich.|Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding ovary(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) ATAAGGGCATGGCCTGCCCTC 0.597 NA 7 55 0 0 0.001984 0 0 TBX4 9496 broad.mit.edu 37 17 59560581 59560581 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr17:59560581G>A uc002izi.2 + 8 1387 c.1342G>A c.(1342-1344)GCC>ACC p.A448T TBX4_uc010ddo.2_Missense_Mutation_p.A449T|TBX4_uc010woy.1_Missense_Mutation_p.A449T NM_018488 NP_060958 P57082 TBX4_HUMAN T-box 4 448 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 GCACTTCACCGCCACCACCAT 0.592 NA 6 62 0 0 0.00308 0 0 POTEC 388468 broad.mit.edu 37 18 14542921 14542921 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr18:14542921G>T uc010dln.2 - 1 679 c.225C>A c.(223-225)AGC>AGA p.S75R POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 75 skin(3) 3 TGCTCGTGCCGCTCCCCCTGC 0.567 NA 10 218 1.58986e-06 1.91055e-06 0.008291 1 0 RIT2 6014 broad.mit.edu 37 18 40503602 40503602 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr18:40503602G>T uc002lav.2 - 4 534 c.361C>A c.(361-363)CGC>AGC p.R121S RIT2_uc010dnf.2_Missense_Mutation_p.R121S NM_002930 NP_002921 Q99578 RIT2_HUMAN Ras-like without CAAX 2 121 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity ovary(1) 1 TAGGTGTGGCGGACCTGAAAA 0.488 NA 27 263 2.41591e-17 3.44084e-17 0.004656 1 0 MIER2 54531 broad.mit.edu 37 19 334524 334524 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:334524C>A uc002lok.1 - 3 128 c.119G>T c.(118-120)GGA>GTA p.G40V NM_017550 NP_060020 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family 40 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGATGGTCTCCAGAGCCCAT 0.607 NA 8 42 5.18039e-06 6.10392e-06 0.00308 1 0 MATK 4145 broad.mit.edu 37 19 3778291 3778291 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:3778291G>A uc002lyt.2 - 14 1814 c.1414C>T c.(1414-1416)CGC>TGC p.R472C MATK_uc002lyv.2_Missense_Mutation_p.R473C|MATK_uc002lyu.2_Missense_Mutation_p.R431C|MATK_uc010dtq.2_Missense_Mutation_p.R471C NM_139355 NP_647612 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase isoform 472 Protein kinase. ARRPPFRKLAEKLARELRSAGAPASVSGQDADGSTSPRSQE P -> PAGHPSANWPRSWPGSYAVQVPQPPSQGRTPTVHLA PKPGALTPPGGPWPQRTERVESAAWGH (in Ref. 1; AAA16703). cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(2)|ovary(1)|lung(1)|large_intestine(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GCCAGTTTGCGGAAGGGTGGC 0.716 NA 9 33 0 0 0.008291 0 0 EMR1 2015 broad.mit.edu 37 19 6937293 6937293 + Silent SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:6937293G>T uc002mfw.2 + 19 2459 c.2421G>T c.(2419-2421)CTG>CTT p.L807L EMR1_uc010dvc.2_Silent_p.L742L|EMR1_uc010dvb.2_Silent_p.L788L|EMR1_uc010xji.1_Silent_p.L666L|EMR1_uc010xjj.1_Silent_p.L630L NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 807 Helical; Name=6; (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) TCTTCATCCTGGGCTGCTCCT 0.552 NA 9 103 1.76689e-08 2.27172e-08 0.006214 1 0 MUC16 94025 broad.mit.edu 37 19 8976428 8976428 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:8976428C>G uc002mkp.2 - 75 42604 c.42400G>C c.(42400-42402)GAG>CAG p.E14134Q MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.E934Q|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 14165 SEA 14.|Extracellular (Potential). Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCATCCTTCTCAGGCCTGGGG 0.617 NA 3 21 0 0 0.004672 0 0 OLFM2 93145 broad.mit.edu 37 19 9968409 9968409 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:9968409G>A uc002mmp.2 - 3 370 c.342C>T c.(340-342)CTC>CTT p.L114L OLFM2_uc002mmo.2_Silent_p.L36L NM_058164 NP_477512 O95897 NOE2_HUMAN olfactomedin 2 precursor 114 extracellular region large_intestine(1)|skin(1) 2 TCTTGGCCGAGAGGGACCCAT 0.572 NA 10 35 0 0 0.010729 0 0 ZNF439 90594 broad.mit.edu 37 19 11978433 11978433 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:11978433G>C uc002mss.2 + 3 677 c.549G>C c.(547-549)AAG>AAC p.K183N ZNF439_uc002msr.2_Missense_Mutation_p.K47N NM_152262 NP_689475 Q8NDP4 ZN439_HUMAN zinc finger protein 439 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 ACACTGGAAAGAAACCCTATG 0.403 NA 16 161 0 0 0.00499 0 0 CYP4F3 4051 broad.mit.edu 37 19 15769201 15769201 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:15769201C>T uc002nbj.2 + 10 1293 c.1243C>T c.(1243-1245)CCC>TCC p.P415S CYP4F3_uc010xok.1_Missense_Mutation_p.P415S|CYP4F3_uc010xol.1_Missense_Mutation_p.P415S|CYP4F3_uc010xom.1_Missense_Mutation_p.P266S|CYP4F3_uc002nbk.2_Missense_Mutation_p.P415S|CYP4F3_uc010xon.1_Missense_Mutation_p.P125S NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 415 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 CCGGGTCATCCCCAAAGGTGC 0.642 NA 5 44 0 0 0.001984 0 0 KIAA1683 80726 broad.mit.edu 37 19 18376264 18376264 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:18376264G>A uc002nin.2 - 3 2302 c.2086C>T c.(2086-2088)CTG>TTG p.L696L KIAA1683_uc010ebn.2_Silent_p.L696L|KIAA1683_uc010xqe.1_Silent_p.L650L NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 696 mitochondrion ovary(2) 2 TCAGTGGGCAGATGTCCCTGA 0.617 NA 7 26 0 0 0.001984 0 0 ZNF493 284443 broad.mit.edu 37 19 21606273 21606273 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:21606273G>A uc002npx.2 + 2 708 c.428G>A c.(427-429)GGC>GAC p.G143D ZNF493_uc002npw.2_Missense_Mutation_p.G271D|ZNF493_uc002npy.2_Missense_Mutation_p.G143D NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 143 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GAAGAATGTGGCACATCTTTC 0.343 NA 7 54 0 0 0.001984 0 0 ZNF676 163223 broad.mit.edu 37 19 22364130 22364130 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:22364130C>G uc002nqs.1 - 3 707 c.389G>C c.(388-390)AGA>ACA p.R130T NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TATCTTATGTCTGTTTGAATT 0.313 NA 10 90 0 0 0.008291 0 0 ZNF91 7644 broad.mit.edu 37 19 23545212 23545212 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:23545212G>A uc002nre.2 - 4 682 c.569C>T c.(568-570)TCA>TTA p.S190L ZNF91_uc010xrj.1_Missense_Mutation_p.S158L NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 190 C2H2-type 2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GATGCAAAATGACTTGACACA 0.303 NA 8 48 0 0 0.00308 0 0 PSG11 5680 broad.mit.edu 37 19 43523155 43523155 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:43523155C>A uc002ovm.1 - 3 583 c.476G>T c.(475-477)AGG>ATG p.R159M PSG11_uc002ouw.2_Missense_Mutation_p.R165M|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.R165M|PSG11_uc002ovn.1_Missense_Mutation_p.R165M|PSG11_uc002ovo.1_Missense_Mutation_p.R37M|PSG11_uc002ovp.1_Missense_Mutation_p.R37M NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 159 Ig-like C2-type 1. female pregnancy extracellular region 0 Prostate(69;0.00682) CATGGCCTCCCTGGGGTTTAA 0.522 NA 35 205 6.19805e-25 9.00954e-25 0.005524 1 0 FOSB 2354 broad.mit.edu 37 19 45973886 45973886 + Splice_Site SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:45973886G>A uc002pbx.3 + 2 719 c.127_splice c.e2-1 p.E43_splice ERCC1_uc002pbu.1_Intron|FOSB_uc002pbw.2_Splice_Site_p.E43_splice|FOSB_uc010eke.2_Intron|FOSB_uc002pby.3_Splice_Site_p.E43_splice|FOSB_uc010eka.1_Intron|FOSB_uc010ekb.1_Splice_Site_p.E43_splice|FOSB_uc010ekc.1_Intron|FOSB_uc010ekf.2_Intron|FOSB_uc010ekd.1_Splice_Site_p.E43_splice|FOSB_uc010ekg.2_Intron|FOSB_uc002pca.3_5'UTR NM_006732 NP_006723 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(2)|lung(1) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) tCACCCCGTAGGAGTGCGCCG 0.418 NA 23 111 0 0 0.003954 0 0 OPA3 80207 broad.mit.edu 37 19 46032614 46032614 + Silent SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:46032614C>A uc002pcj.3 - 2 343 c.243G>T c.(241-243)GCG>GCT p.A81A NM_001017989 NP_001017989 Q9H6K4 OPA3_HUMAN OPA3 protein isoform a 81 response to stimulus|visual perception mitochondrion 0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) CCAGCAGCTCCGCGCCCAGCT 0.622 NA 13 102 0.000219431 0.000244906 0.00245 1 0 NUCB1 4924 broad.mit.edu 37 19 49424449 49424449 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:49424449G>A uc002plb.3 + 11 1113 c.1041G>A c.(1039-1041)CTG>CTA p.L347L NUCB1_uc002pla.2_Silent_p.L347L|NUCB1_uc002plc.2_Silent_p.L347L|NUCB1_uc002pld.2_Silent_p.L10L NM_006184 NP_006175 Q02818 NUCB1_HUMAN nucleobindin 1 precursor 347 Potential. ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding 0 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) AGGAAGAGCTGAGGCGCTTTG 0.662 NA 3 23 0 0 0.009096 0 0 NLRP13 126204 broad.mit.edu 37 19 56413549 56413549 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:56413549C>A uc010ygg.1 - 9 2666 c.2641G>T c.(2641-2643)GCA>TCA p.A881S NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 881 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CAAGCGGGTGCTGCCAGCTGG 0.582 NA 9 23 1.58986e-06 1.91055e-06 0.008291 1 0 NLRP8 126205 broad.mit.edu 37 19 56482063 56482063 + Splice_Site SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:56482063G>A uc002qmh.2 + 6 2605 c.2534_splice c.e6+1 p.S845_splice NLRP8_uc010etg.2_Splice_Site_p.S845_splice NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AGAGGCTGTCGTAAGTCTCCT 0.468 NA 11 129 0 0 0.010729 0 0 USP29 57663 broad.mit.edu 37 19 57640047 57640047 + Missense_Mutation SNP A A T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:57640047A>T uc002qny.2 + 4 360 c.4A>T c.(4-6)ATA>TTA p.I2L NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 2 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGAAAGGATGATATCTCTAAA 0.333 NA 12 44 0 0 0.001368 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58849907 58849907 + Missense_Mutation SNP A A G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:58849907A>G uc002qsc.2 + 3 838 c.691A>G c.(691-693)AGT>GGT p.S231G ZSCAN22_uc010yhz.1_Silent_p.L225L NM_181846 NP_862829 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 231 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) GAACAGTTCTAGTGCGTGGCC 0.522 NA 16 159 0 0 0.00499 0 0 LBH 81606 broad.mit.edu 37 2 30480308 30480308 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:30480308G>T uc002rne.2 + 3 347 c.139G>T c.(139-141)GAC>TAC p.D47Y NM_030915 NP_112177 Q53QV2 LBH_HUMAN limb bud and heart development homolog 47 multicellular organismal development|transcription, DNA-dependent cytoplasm|nucleolus 0 Acute lymphoblastic leukemia(172;0.155) GATCTTCCCAGACCCGTCAGA 0.527 NA 7 50 1.6384e-10 2.19317e-10 0.001984 1 0 DYSF 8291 broad.mit.edu 37 2 71795348 71795348 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:71795348C>A uc002sie.2 + 26 3066 c.2690C>A c.(2689-2691)ACG>AAG p.T897K DYSF_uc010feg.2_Missense_Mutation_p.T928K|DYSF_uc010feh.2_Missense_Mutation_p.T883K|DYSF_uc002sig.3_Missense_Mutation_p.T883K|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.T897K|DYSF_uc010fef.2_Missense_Mutation_p.T914K|DYSF_uc010fei.2_Missense_Mutation_p.T914K|DYSF_uc010fek.2_Missense_Mutation_p.T915K|DYSF_uc010fej.2_Missense_Mutation_p.T884K|DYSF_uc010fel.2_Missense_Mutation_p.T884K|DYSF_uc010feo.2_Missense_Mutation_p.T929K|DYSF_uc010fem.2_Missense_Mutation_p.T898K|DYSF_uc010fen.2_Missense_Mutation_p.T915K|DYSF_uc002sif.2_Missense_Mutation_p.T898K NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 897 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 TGGGGCACAACGGGCCTCACC 0.607 NA 22 199 2.27731e-05 2.61766e-05 0.012319 1 0 RANBP2 5903 broad.mit.edu 37 2 109367852 109367852 + Nonsense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:109367852C>G uc002tem.3 + 10 1532 c.1406C>G c.(1405-1407)TCA>TGA p.S469* NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 469 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 CATGAAACCTCAAGGCTTGAA 0.338 NA 14 236 0 0 0.003163 0 0 ACMSD 130013 broad.mit.edu 37 2 135619539 135619539 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:135619539G>A uc002ttz.2 + 4 267 c.200G>A c.(199-201)GGA>GAA p.G67E ACMSD_uc002tua.2_Intron NM_138326 NP_612199 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 67 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.115) CCATGTCTAGGAGTAACAGTG 0.512 NA 21 214 0 0 0.00278 0 0 LRP1B 53353 broad.mit.edu 37 2 141643712 141643712 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:141643712C>T uc002tvj.1 - 24 4931 c.3959G>A c.(3958-3960)AGT>AAT p.S1320N LRP1B_uc010fnl.1_Missense_Mutation_p.S502N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1320 Extracellular (Potential).|LDL-receptor class B 9. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGTACCTCCACTTTCAGAAAG 0.279 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 6 58 0 0 0.001168 0 0 LRP1B 53353 broad.mit.edu 37 2 141643856 141643856 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:141643856C>T uc002tvj.1 - 24 4787 c.3815G>A c.(3814-3816)AGG>AAG p.R1272K LRP1B_uc010fnl.1_Missense_Mutation_p.R454K NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1272 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAGATCAATCCTTCTGATCTC 0.303 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 13 68 0 0 0.001855 0 0 LRP1B 53353 broad.mit.edu 37 2 141777540 141777540 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:141777540C>T uc002tvj.1 - 12 2893 c.1921G>A c.(1921-1923)GAG>AAG p.E641K LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 641 Extracellular (Potential).|LDL-receptor class B 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATTTCACCCTCTAAAAGAGTC 0.378 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 9 97 0 0 0.008291 0 0 NEB 4703 broad.mit.edu 37 2 152500637 152500637 + Missense_Mutation SNP A A G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:152500637A>G uc010fnx.2 - 57 7842 c.7651T>C c.(7651-7653)TAC>CAC p.Y2551H NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2551 Nebulin 68. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CCTTCCTTGTACTTGTACTAG 0.418 NA 33 178 0 0 0.004878 0 0 UPP2 151531 broad.mit.edu 37 2 158971692 158971692 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:158971692C>A uc002tzp.2 + 3 454 c.260C>A c.(259-261)GCT>GAT p.A87D UPP2_uc002tzo.2_Missense_Mutation_p.A144D NM_173355 NP_775491 O95045 UPP2_HUMAN uridine phosphorylase 2 isoform a 87 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity 0 TTTGAGGAAGCTGAAGAAGAC 0.443 NA 11 76 1.08611e-07 1.36733e-07 0.010729 1 0 IFIH1 64135 broad.mit.edu 37 2 163134144 163134144 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:163134144C>T uc002uce.2 - 10 2047 c.1825G>A c.(1825-1827)GAG>AAG p.E609K NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 609 E -> K (in Ref. 2; AAG54076). detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 TGTAGGGCCTCATTGTACTTC 0.323 NA 5 64 0 0 0.001168 0 0 LRP2 4036 broad.mit.edu 37 2 170007439 170007439 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:170007439G>T uc002ues.2 - 68 12772 c.12559C>A c.(12559-12561)CCA>ACA p.P4187T NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4187 Extracellular (Potential).|LDL-receptor class B 35. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATAGCAGCTGGTTGGTCCAGG 0.423 NA 12 79 3.07112e-06 3.63889e-06 0.010729 1 0 NFE2L2 4780 broad.mit.edu 37 2 178098846 178098846 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:178098846C>T uc002ulh.3 - 2 754 c.199G>A c.(199-201)GAG>AAG p.E67K NFE2L2_uc002ulg.3_Missense_Mutation_p.E51K|NFE2L2_uc010zfa.1_Missense_Mutation_p.E51K|NFE2L2_uc002uli.3_Missense_Mutation_p.E51K|NFE2L2_uc010fra.2_Missense_Mutation_p.E51K|NFE2L2_uc010frb.2_Missense_Mutation_p.E51K NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 67 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AAGGCTTTCTCTTGCTCCTTT 0.433 NA Mis NSCLC|HNSCC HNSCC(56;0.16) 6 71 0 0 0.001984 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187703805 187703805 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:187703805G>T uc002upu.1 - 4 415 c.375C>A c.(373-375)GAC>GAA p.D125E NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 125 apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) GTTCATTTTCGTCATTTGTTC 0.403 NA 10 154 7.48243e-07 9.14759e-07 0.006214 1 0 C2orf47 79568 broad.mit.edu 37 2 200824549 200824549 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:200824549G>C uc002uvm.2 + 4 917 c.595G>C c.(595-597)GAT>CAT p.D199H NM_024520 NP_078796 Q8WWC4 CB047_HUMAN hypothetical protein LOC79568 precursor 199 mitochondrion 0 TGCTAACATAGATGAAATTGT 0.358 NA 7 90 0 0 0.001984 0 0 IDH1 3417 broad.mit.edu 37 2 209113181 209113181 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:209113181C>T uc002vcs.2 - 4 572 c.326G>A c.(325-327)AGA>AAA p.R109K IDH1_uc002vct.2_Missense_Mutation_p.R109K|IDH1_uc002vcu.2_Missense_Mutation_p.R109K NM_005896 NP_005887 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 109 Substrate. 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1) 2868 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) AATGGCTTCTCTGAAGACCGT 0.438 Pancreas(158;264 1958 3300 35450 36047) NA Mis gliobastoma 12 74 0 0 0.001368 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209142380 209142380 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:209142380C>T uc002vcz.2 + 5 719 c.561C>T c.(559-561)TTC>TTT p.F187F PIKFYVE_uc010fun.1_Intron|PIKFYVE_uc002vcy.1_Silent_p.F187F|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Silent_p.F187F|PIKFYVE_uc002vcx.2_Intron NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 187 FYVE-type. cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 GGCAGATTTTCTGCAGTCGTT 0.388 NA 13 150 0 0 0.003163 0 0 DOCK10 55619 broad.mit.edu 37 2 225658141 225658141 + Missense_Mutation SNP T T C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:225658141T>C uc010fwz.1 - 46 5427 c.5188A>G c.(5188-5190)ATT>GTT p.I1730V DOCK10_uc002vob.2_Missense_Mutation_p.I1724V|DOCK10_uc002voa.2_Missense_Mutation_p.I386V|DOCK10_uc002voc.2_Missense_Mutation_p.I584V NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1730 DHR-2. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TACTCTGCAATGAGAGCAGCA 0.373 NA 10 63 0 0 0.010729 0 0 WDR69 164781 broad.mit.edu 37 2 228786187 228786187 + Nonsense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:228786187C>T uc002vpn.1 + 12 1202 c.1123C>T c.(1123-1125)CAG>TAG p.Q375* WDR69_uc010zlw.1_Nonsense_Mutation_p.Q360*|WDR69_uc002vpo.1_RNA NM_178821 NP_849143 Q8N136 WDR69_HUMAN WD repeat domain 69 375 WD 7. breast(1) 1 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) CTGGGATGCTCAGACTGGCCA 0.433 NA 24 109 0 0 0.00333 0 0 TRPM8 79054 broad.mit.edu 37 2 234894470 234894470 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr2:234894470C>A uc002vvh.2 + 21 2940 c.2900C>A c.(2899-2901)ACC>AAC p.T967N TRPM8_uc010fyj.2_Missense_Mutation_p.T545N|TRPM8_uc010fyk.2_RNA NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 967 Helical; Name=6; (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) ATGTTATCCACCAACATCCTG 0.567 NA 4 9 0.00909568 0.00957083 0.009096 1 0 PLCB1 23236 broad.mit.edu 37 20 8130941 8130941 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr20:8130941G>C uc002wnb.2 + 2 103 c.100G>C c.(100-102)GAC>CAC p.D34H PLCB1_uc010zrb.1_5'UTR|PLCB1_uc010gbv.1_Missense_Mutation_p.D34H|PLCB1_uc002wmz.1_Missense_Mutation_p.D34H|PLCB1_uc002wna.2_Missense_Mutation_p.D34H NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 34 MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613). activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 ACATTTCTAGGACTCAACTAT 0.328 NA 11 57 0 0 0.008291 0 0 PLCB4 5332 broad.mit.edu 37 20 9417782 9417782 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr20:9417782G>T uc002wnf.2 + 28 2847 c.2711G>T c.(2710-2712)GGT>GTT p.G904V PLCB4_uc010gbw.1_Missense_Mutation_p.G904V|PLCB4_uc010gbx.2_Missense_Mutation_p.G916V|PLCB4_uc002wne.2_Missense_Mutation_p.G904V|PLCB4_uc002wnh.2_Missense_Mutation_p.G751V NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 904 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 CTGGCCTCTGGTGTGGAAGCC 0.478 NA 3 22 0.00909568 0.00957083 0.009096 1 0 TRPC4AP 26133 broad.mit.edu 37 20 33665863 33665863 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr20:33665863G>C uc002xbk.2 - 2 317 c.283C>G c.(283-285)CAA>GAA p.Q95E TRPC4AP_uc002xbl.2_Missense_Mutation_p.Q95E|TRPC4AP_uc010zur.1_Missense_Mutation_p.Q95E|TRPC4AP_uc002xbm.1_Missense_Mutation_p.Q95E NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN TRPC4-associated protein isoform a 95 Interaction with TNFRSF1A (By similarity). protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00936) AGGATGTTTTGACACTCAACA 0.498 NA 5 63 0 0 0.001168 0 0 SFRS6 6431 broad.mit.edu 37 20 42088452 42088452 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr20:42088452G>A uc010zwg.1 + 3 468 c.298G>A c.(298-300)GAC>AAC p.D100N SFRS6_uc002xki.2_5'UTR|SFRS6_uc002xkk.2_Missense_Mutation_p.D100N NM_006275 NP_006266 Q13247 SRSF6_HUMAN arginine/serine-rich splicing factor 6 100 mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ATCTGGCAGAGACAAATACGG 0.398 NA 13 128 0 0 0.001368 0 0 SFRS6 6431 broad.mit.edu 37 20 42088829 42088829 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr20:42088829G>A uc010zwg.1 + 4 708 c.538G>A c.(538-540)GAA>AAA p.E180K SFRS6_uc002xki.2_Missense_Mutation_p.E51K|SFRS6_uc002xkk.2_Missense_Mutation_p.E180K NM_006275 NP_006266 Q13247 SRSF6_HUMAN arginine/serine-rich splicing factor 6 180 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TAGGCTTATTGAAGATAAGCC 0.423 NA 9 37 0 0 0.006214 0 0 L3MBTL 26013 broad.mit.edu 37 20 42162660 42162660 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr20:42162660C>T uc010zwh.1 + 14 1506 c.1460C>T c.(1459-1461)CCT>CTT p.P487L L3MBTL_uc002xkl.2_Missense_Mutation_p.P419L|L3MBTL_uc002xkm.2_Missense_Mutation_p.P419L|L3MBTL_uc010ggl.2_Missense_Mutation_p.P419L|L3MBTL_uc002xkn.1_Missense_Mutation_p.P178L|L3MBTL_uc002xko.2_Missense_Mutation_p.P71L NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN l(3)mbt-like isoform I 419 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TACCCAGACCCTGATAACTTC 0.577 NA 9 86 0 0 0.006214 0 0 EEF1A2 1917 broad.mit.edu 37 20 62126429 62126429 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr20:62126429G>T uc002yfd.1 - 3 451 c.350C>A c.(349-351)GCG>GAG p.A117E EEF1A2_uc002yfe.1_Missense_Mutation_p.A117E|EEF1A2_uc010gkg.1_Missense_Mutation_p.A117E NM_001958 NP_001949 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 117 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CACGCCCGCCGCCACGATCAG 0.701 NA 6 57 5.18039e-06 6.10392e-06 0.00308 1 0 ITSN1 6453 broad.mit.edu 37 21 35229122 35229122 + Silent SNP C C T rs142988236 TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr21:35229122C>T uc002yta.1 + 30 4012 c.3744C>T c.(3742-3744)ACC>ACT p.T1248T DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.T1243T|ITSN1_uc002ytj.2_Silent_p.T1243T|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yti.1_RNA NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 1248 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 vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 TCATTGTCACCGAGGAGAACT 0.547 NA 5 40 0 0 0.000602 0 0 COL6A1 1291 broad.mit.edu 37 21 47410956 47410956 + Splice_Site SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr21:47410956G>A uc002zhu.1 + 15 1221 c.1119_splice c.e15+1 p.K373_splice NM_001848 NP_001839 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 precursor axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding ovary(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) AGGAGAAAAGGTGAGTGACTT 0.607 NA 3 25 0 0 0.004672 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30688415 30688415 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr22:30688415G>T uc011akt.1 - 11 1500 c.1476C>A c.(1474-1476)CAC>CAA p.H492Q GATSL3_uc003ahc.2_5'Flank|GATSL3_uc003ahe.2_5'Flank|GATSL3_uc003ahd.2_5'Flank|GATSL3_uc003ahf.2_Intron|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Intron|GATSL3_uc010gvr.2_5'Flank|GATSL3_uc010gvs.2_5'Flank|TBC1D10A_uc003ahj.3_Missense_Mutation_p.H404Q|TBC1D10A_uc010gvu.2_Missense_Mutation_p.H499Q|TBC1D10A_uc003ahk.3_Missense_Mutation_p.H492Q NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 492 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity ovary(1) 1 CCTGGGAGCGGTGGTGGGCTG 0.612 NA 13 181 0.00185496 0.00199656 0.001855 1 0 LARGE 9215 broad.mit.edu 37 22 33700318 33700318 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr22:33700318C>A uc003and.3 - 13 2206 c.1627G>T c.(1627-1629)GTG>TTG p.V543L LARGE_uc011amd.1_Missense_Mutation_p.V342L|LARGE_uc003ane.3_Missense_Mutation_p.V543L|LARGE_uc010gwp.2_Missense_Mutation_p.V491L|LARGE_uc011ame.1_Missense_Mutation_p.V475L|LARGE_uc011amf.1_Missense_Mutation_p.V543L NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 543 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) AGCAGGTTCACGGGGTAGAAC 0.572 Colon(70;397 1175 4573 19089 45288) NA 7 80 2.17888e-05 2.51135e-05 0.006214 1 0 CSNK1E 1454 broad.mit.edu 37 22 38696822 38696822 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr22:38696822C>T uc003avj.2 - 5 733 c.472G>A c.(472-474)GAC>AAC p.D158N CSNK1E_uc003avk.2_Missense_Mutation_p.D158N|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.D158N|CSNK1E_uc003avo.2_Missense_Mutation_p.D158N|CSNK1E_uc003avp.1_Missense_Mutation_p.D158N|CSNK1E_uc003avq.1_Missense_Mutation_p.D158N NM_152221 NP_689407 P49674 KC1E_HUMAN casein kinase 1 epsilon 158 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1) 3 Melanoma(58;0.045) GTGCGGGCGTCCCGGTACTTC 0.617 Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601) NA 5 69 0 0 0.000602 0 0 GRM7 2917 broad.mit.edu 37 3 7503364 7503364 + Silent SNP G G C rs138702582 TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:7503364G>C uc003bqm.2 + 7 1744 c.1470G>C c.(1468-1470)CCG>CCC p.P490P GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.P490P|GRM7_uc003bql.2_Silent_p.P490P|GRM7_uc003bqn.1_Silent_p.P73P|GRM7_uc010hch.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 490 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) CCAGCAACCCGGGTTACCGTC 0.488 NA 7 110 0 0 0.004482 0 0 TIMP4 7079 broad.mit.edu 37 3 12200325 12200325 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:12200325G>C uc003bwo.2 - 1 323 c.16C>G c.(16-18)CGG>GGG p.R6G SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.2_Intron|SYN2_uc003bwn.2_Intron NM_003256 NP_003247 Q99727 TIMP4_HUMAN tissue inhibitor of metalloproteinase 4 6 metal ion binding|metalloendopeptidase inhibitor activity 0 GGCGCGGGCCGAGGGCTCCCA 0.721 Melanoma(199;1446 2144 30617 38794 51714) NA 3 12 0 0 0.004672 0 0 ZNF385D 79750 broad.mit.edu 37 3 21706452 21706452 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:21706452G>A uc003cce.2 - 2 499 c.91C>T c.(91-93)CTG>TTG p.L31L ZNF385D_uc010hfb.1_Intron NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 31 nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 TTAATATCCAGCGATGGTTGC 0.517 NA 10 43 0 0 0.008291 0 0 DCLK3 85443 broad.mit.edu 37 3 36778975 36778975 + Silent SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:36778975G>C uc003cgi.2 - 2 1667 c.1176C>G c.(1174-1176)CTC>CTG p.L392L NM_033403 NP_208382 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 392 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1) 9 CCTTGCCCTTGAGTCTGGACT 0.527 NA 7 40 0 0 0.001984 0 0 XYLB 9942 broad.mit.edu 37 3 38415993 38415993 + Silent SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:38415993G>T uc003cic.2 + 11 997 c.888G>T c.(886-888)GCG>GCT p.A296A XYLB_uc011ayp.1_Silent_p.A159A|XYLB_uc003cid.1_Silent_p.A218A NM_005108 NP_005099 O75191 XYLB_HUMAN xylulokinase 296 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) GTGACATTGCGGTAAGGCGAC 0.562 NA 6 29 8.12818e-05 9.14421e-05 0.001984 1 0 SETD2 29072 broad.mit.edu 37 3 47162194 47162194 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:47162194C>T uc003cqs.2 - 3 3985 c.3932G>A c.(3931-3933)GGT>GAT p.G1311D SETD2_uc003cqv.2_Missense_Mutation_p.G1300D NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1311 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AGGAGGTCTACCTGATCTTGG 0.468 NA N|F|S|Mis clear cell renal carcinoma 5 67 0 0 0.000602 0 0 MST1R 4486 broad.mit.edu 37 3 49927461 49927461 + Silent SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:49927461C>A uc003cxy.3 - 19 4107 c.3843G>T c.(3841-3843)CTG>CTT p.L1281L MST1R_uc011bdc.1_Silent_p.L160L NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 1281 Cytoplasmic (Potential).|Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CACCCCGTGTCAGCAGTTCCC 0.617 NA 5 35 1.23904e-05 1.43987e-05 0.000602 1 0 FAM86D 692099 broad.mit.edu 37 3 75475709 75475709 + Missense_Mutation SNP T T C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:75475709T>C uc003dpp.3 - 7 888 c.529A>G c.(529-531)ATC>GTC p.I177V FAM86D_uc003dpo.3_RNA|FAM86D_uc003dps.3_RNA|FAM86D_uc003dpq.3_Missense_Mutation_p.I85V|FAM86D_uc003dpr.3_RNA NR_024241 RecName: Full=Protein FAM86B1; 0 CTCCGCAGGATCCCGACCAGC 0.562 NA 3 16 0 0 0.004672 0 0 EPHA3 2042 broad.mit.edu 37 3 89521672 89521672 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:89521672G>T uc003dqy.2 + 16 2974 c.2749G>T c.(2749-2751)GGT>TGT p.G917C EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 917 Cytoplasmic (Potential).|SAM. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CCGCACAACAGGTGACTGGCT 0.463 NA TSP Lung(6;0.00050) 11 126 2.27111e-07 2.83386e-07 0.001368 1 0 ZPLD1 131368 broad.mit.edu 37 3 102171778 102171778 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:102171778G>T uc003dvs.1 + 10 1004 c.122G>T c.(121-123)AGT>ATT p.S41I ZPLD1_uc003dvt.1_Missense_Mutation_p.S57I|ZPLD1_uc011bhg.1_Missense_Mutation_p.S41I NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 41 Extracellular (Potential). integral to membrane ovary(2)|skin(2)|central_nervous_system(1) 5 AGAGACATCAGTGTCTATTGT 0.333 NA 6 93 0.00198382 0.00211908 0.001984 1 0 CBLB 868 broad.mit.edu 37 3 105456052 105456052 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:105456052C>G uc003dwc.2 - 8 1356 c.1034G>C c.(1033-1035)TGT>TCT p.C345S CBLB_uc011bhi.1_Missense_Mutation_p.C367S|CBLB_uc003dwd.1_Missense_Mutation_p.C345S|CBLB_uc003dwe.1_Missense_Mutation_p.C345S|CBLB_uc011bhj.1_RNA NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 345 Linker. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 TGTAGGTTCACATAATCCAGT 0.284 GBM(93;588 1337 9788 29341 43499) NA Mis S AML 6 54 0 0 0.001984 0 0 KIAA1524 57650 broad.mit.edu 37 3 108278606 108278606 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:108278606C>G uc003dxb.3 - 16 2280 c.2011G>C c.(2011-2013)GAG>CAG p.E671Q NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN p90 autoantigen 671 Potential. cytoplasm|integral to membrane protein binding ovary(2)|central_nervous_system(1) 3 CTACACACCTCTGTTTCAGCT 0.343 NA 3 28 0 0 0.004672 0 0 ABHD10 55347 broad.mit.edu 37 3 111710449 111710449 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:111710449G>T uc003dyk.3 + 5 883 c.802G>T c.(802-804)GAT>TAT p.D268Y ABHD10_uc011bhq.1_Missense_Mutation_p.D111Y NM_018394 NP_060864 Q9NUJ1 ABHDA_HUMAN abhydrolase domain containing 10 precursor 268 mitochondrion serine-type peptidase activity 0 ACTCAGCACAGATGTGGATGT 0.428 NA 9 99 0.000442599 0.000486284 0.006214 1 0 KIAA2018 205717 broad.mit.edu 37 3 113388995 113388995 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:113388995C>T uc003eam.2 - 5 543 c.132G>A c.(130-132)CTG>CTA p.L44L KIAA2018_uc003eal.2_5'UTR NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 44 Helix-loop-helix motif. regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 AACATGGGATCAGCTCTCCTA 0.383 NA 7 77 0 0 0.00308 0 0 LSAMP 4045 broad.mit.edu 37 3 115560692 115560692 + Nonsense_Mutation SNP T T A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:115560692T>A uc003ebt.2 - 6 1419 c.919A>T c.(919-921)AGA>TGA p.R307* LSAMP_uc011bis.1_Nonsense_Mutation_p.K307* NM_002338 NP_002329 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 307 cell adhesion|nervous system development anchored to membrane|plasma membrane 0 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) GCATACTTACTGAAAAGGACT 0.458 NA 8 45 0 0 0.004482 0 0 EPHB1 2047 broad.mit.edu 37 3 134670588 134670588 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:134670588C>G uc003eqt.2 + 3 719 c.499C>G c.(499-501)CCT>GCT p.P167A EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Intron NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 167 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.P167L(1) lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 GAGCTTTGGGCCTCTTACTCG 0.473 NA 17 215 0 0 0.00499 0 0 CLDN18 51208 broad.mit.edu 37 3 137717828 137717828 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:137717828G>A uc003ero.1 + 1 171 c.118G>A c.(118-120)GTA>ATA p.V40I NM_001002026 NP_001002026 P56856 CLD18_HUMAN claudin 18 isoform 2 40 Extracellular (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity upper_aerodigestive_tract(1)|ovary(1) 2 CAACAACCCCGTAACAGCTGT 0.592 NA 10 75 0 0 0.006214 0 0 NAALADL2 254827 broad.mit.edu 37 3 175184875 175184875 + Nonsense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:175184875C>G uc003fit.2 + 8 1523 c.1436C>G c.(1435-1437)TCA>TGA p.S479* NAALADL2_uc003fiu.1_Nonsense_Mutation_p.S472*|NAALADL2_uc010hwy.1_Nonsense_Mutation_p.S253*|NAALADL2_uc010hwz.1_Nonsense_Mutation_p.S73* NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 479 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) GCCTTGATGTCAAAAGTTAAG 0.443 NA 15 124 0 0 0.003163 0 0 NDUFB5 4711 broad.mit.edu 37 3 179332786 179332786 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:179332786G>T uc003fkc.2 + 2 181 c.152G>T c.(151-153)GGG>GTG p.G51V NDUFB5_uc003fkd.2_RNA|NDUFB5_uc003fke.2_Intron NM_002492 NP_002483 O43674 NDUB5_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 51 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity skin(1) 1 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) NADH(DB00157) GGAGACCATGGGAAAAGACTA 0.343 NA 12 81 0.000308642 0.000340876 0.003163 1 0 UTS2D 257313 broad.mit.edu 37 3 190993092 190993092 + Nonsense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr3:190993092C>A uc003fsu.2 - 8 1070 c.283G>T c.(283-285)GAG>TAG p.E95* NM_198152 NP_937795 Q765I0 UTS2B_HUMAN urotensin 2 domain containing precursor 95 extracellular region hormone activity 0 all_cancers(143;1.77e-09)|Ovarian(172;0.103) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000214) TAGGACGTCTCAGAATCCTTC 0.338 NA 26 115 8.58068e-18 1.22623e-17 0.007291 1 0 ZNF718 255403 broad.mit.edu 37 4 53277 53277 + Translation_Start_Site SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr4:53277G>T uc003fzt.3 + 2 28 c.-105G>T c.(-107--103)TAGGG>TATGG ZNF595_uc003fzu.1_RNA|ZNF595_uc010iay.1_RNA|ZNF595_uc003fzv.1_5'UTR|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_5'UTR NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) TCTCGGCTCCGGGAGGCCTCG 0.602 NA 5 77 3.59834e-05 4.11377e-05 0.001168 1 0 PPP2R2C 5522 broad.mit.edu 37 4 6473956 6473956 + Missense_Mutation SNP T T C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr4:6473956T>C uc003gjc.2 - 1 371 c.1A>G c.(1-3)ATG>GTG p.M1V PPP2R2C_uc011bwd.1_Intron|PPP2R2C_uc011bwe.1_Intron NM_020416 NP_065149 Q9Y2T4 2ABG_HUMAN gamma isoform of regulatory subunit B55, protein 1 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 TCCTCGCCCATTGAAGGCCGT 0.657 NA 11 70 0 0 0.010729 0 0 KIAA0232 9778 broad.mit.edu 37 4 6863504 6863504 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr4:6863504C>T uc003gjr.3 + 7 1858 c.1395C>T c.(1393-1395)TTC>TTT p.F465F KIAA0232_uc003gjq.3_Silent_p.F465F NM_014743 NP_055558 Q92628 K0232_HUMAN hypothetical protein LOC9778 465 ATP binding ovary(2) 2 CAGGTACTTTCATTGATGGTC 0.398 NA 9 98 0 0 0.004482 0 0 GBA3 57733 broad.mit.edu 37 4 22748963 22748963 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr4:22748963G>C uc003gqp.3 + 3 422 c.331G>C c.(331-333)GGG>CGG p.G111R GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.G112R NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 111 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 GTTAAAAAATGGGGTTACTCC 0.373 NA 16 177 0 0 0.004007 0 0 ARAP2 116984 broad.mit.edu 37 4 36069551 36069551 + Missense_Mutation SNP T T A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr4:36069551T>A uc003gsq.1 - 33 5431 c.5093A>T c.(5092-5094)CAG>CTG p.Q1698L ARAP2_uc003gso.2_Intron NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1698 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 CTGCTCATCCTGTAATTCTTT 0.338 NA 14 83 0 0 0.001855 0 0 TLR10 81793 broad.mit.edu 37 4 38776982 38776983 + Missense_Mutation DNP AA AA TT TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 AA AA - - AA AA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr4:38776982_38776983AA>TT uc003gti.2 - 2 608_609 c.229_230TT>AA c.(229-231)TTG>AAG p.L77K TLR10_uc003gtj.2_Missense_Mutation_p.L77K|TLR10_uc003gtk.2_Missense_Mutation_p.L77K NM_030956 NP_112218 Q9BXR5 TLR10_HUMAN toll-like receptor 10 precursor 77 LRR 3.|Extracellular (Potential). inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity lung(1)|breast(1) 2 GCATAGAATCAAAACTCTCAGT 0.381 NA 12 62 0 0 0.004672 0 0 APBB2 323 broad.mit.edu 37 4 40827964 40827964 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr4:40827964C>T uc003gvl.2 - 15 2383 c.1753G>A c.(1753-1755)GAG>AAG p.E585K APBB2_uc010ifu.2_Missense_Mutation_p.E157K|APBB2_uc003gvm.2_Missense_Mutation_p.E563K|APBB2_uc003gvn.2_Missense_Mutation_p.E586K|APBB2_uc003gvk.2_Missense_Mutation_p.E37K NM_173075 NP_775098 Q92870 APBB2_HUMAN amyloid beta A4 precursor protein-binding, 585 PID 2. cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding ovary(2)|large_intestine(1) 3 TGGACCAGCTCAGTCTTTGGT 0.448 Ovarian(3;20 75 16686 49997) NA 16 109 0 0 0.004007 0 0 WDFY3 23001 broad.mit.edu 37 4 85707201 85707201 + Silent SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr4:85707201C>A uc003hpd.2 - 24 4401 c.3993G>T c.(3991-3993)GTG>GTT p.V1331V NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1331 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTAGAGACGACACAGAGAGTG 0.443 NA 11 101 0.00136819 0.00148017 0.001368 1 0 WDFY3 23001 broad.mit.edu 37 4 85707203 85707203 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr4:85707203C>A uc003hpd.2 - 24 4399 c.3991G>T c.(3991-3993)GTG>TTG p.V1331L NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1331 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AGAGACGACACAGAGAGTGCA 0.433 NA 11 105 0.00136819 0.00148017 0.001368 1 0 PDHA2 5161 broad.mit.edu 37 4 96761377 96761377 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr4:96761377C>A uc003htr.3 + 1 139 c.76C>A c.(76-78)CGT>AGT p.R26S NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 26 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GGTGGCATCCCGTAACTCCTC 0.522 NA 3 26 6.4e-05 7.25951e-05 0.004672 1 0 NHEDC2 133308 broad.mit.edu 37 4 103950041 103950041 + Splice_Site SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr4:103950041C>T uc003hwx.3 - 11 2128 c.1256_splice c.e11-1 p.G419_splice NHEDC2_uc010iln.1_Intron|NHEDC2_uc003hwy.2_Splice_Site_p.G419_splice|NHEDC2_uc011cew.1_Splice_Site_p.G362_splice|NHEDC2_uc011cex.1_Intron NM_178833 NP_849155 Q86UD5 NHDC2_HUMAN Na+/H+ exchanger domain containing 2 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity 0 OV - Ovarian serous cystadenocarcinoma(123;2.3e-08) ACACAAAGGCCTGTAAGAAAT 0.299 NA 4 44 0 0 0.009096 0 0 C4orf3 401152 broad.mit.edu 37 4 120221511 120221511 + Silent SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr4:120221511G>C uc003icv.3 - 1 458 c.180C>G c.(178-180)CTC>CTG p.L60L NM_001001701 NP_001001701 Q8WVX3 CD003_HUMAN hypothetical protein LOC401152 60 Helical; (Potential). integral to membrane 0 AATACACAAAGAGAAACACCA 0.328 NA 7 132 0 0 0.00308 0 0 ADAD1 132612 broad.mit.edu 37 4 123333743 123333743 + Missense_Mutation SNP A A C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr4:123333743A>C uc003ieo.2 + 10 1260 c.1028A>C c.(1027-1029)AAT>ACT p.N343T ADAD1_uc003iep.2_Missense_Mutation_p.N332T|ADAD1_uc003ieq.2_Missense_Mutation_p.N325T NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 343 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 AGACGTCTTAATCCACATTCT 0.363 NA 12 142 0 0 0.001368 0 0 PHF17 79960 broad.mit.edu 37 4 129767550 129767550 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr4:129767550C>T uc003igk.2 + 4 439 c.159C>T c.(157-159)ATC>ATT p.I53I PHF17_uc003igj.2_Silent_p.I53I|PHF17_uc003igl.2_Silent_p.I53I|PHF17_uc011cgy.1_Silent_p.I53I|PHF17_uc003igm.2_Silent_p.I53I NM_199320 NP_955352 Q6IE81 JADE1_HUMAN PHD finger protein 17 long isoform 53 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding 0 CAGACCTGATCACTGCCATGA 0.483 NA 27 172 0 0 0.009535 0 0 PCDH10 57575 broad.mit.edu 37 4 134072378 134072378 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr4:134072378C>G uc003iha.2 + 1 1909 c.1083C>G c.(1081-1083)AGC>AGG p.S361R uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.S361R NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 361 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TCAGCTTCAGCACCGTGAAGG 0.627 NA 6 55 0 0 0.001168 0 0 FSTL5 56884 broad.mit.edu 37 4 162680590 162680590 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr4:162680590C>G uc003iqh.2 - 6 1136 c.700G>C c.(700-702)GCT>CCT p.A234P FSTL5_uc003iqi.2_Missense_Mutation_p.A233P|FSTL5_uc010iqv.2_Missense_Mutation_p.A233P NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 234 2 (Potential).|EF-hand 2. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TCTTCAAGAGCCAGGTGCTTG 0.348 NA 10 82 0 0 0.006214 0 0 SORBS2 8470 broad.mit.edu 37 4 186544288 186544288 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr4:186544288G>A uc003iyl.2 - 13 3141 c.2283C>T c.(2281-2283)ATC>ATT p.I761I SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.I861I|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.I665I|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.I875I|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 761 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GCAGCTCACTGATGAGGCGGT 0.572 Esophageal Squamous(153;41 2433 9491 36028) NA 26 248 0 0 0.008361 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 182155 182155 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:182155C>T uc003jak.2 + 18 3583 c.3533C>T c.(3532-3534)TCT>TTT p.S1178F NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 1178 Ser-rich. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GTGTCCTCCTCTGACCACGCC 0.617 NA 10 57 0 0 0.008291 0 0 TRIP13 9319 broad.mit.edu 37 5 911998 911998 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:911998G>A uc003jbr.2 + 10 1017 c.907G>A c.(907-909)GAG>AAG p.E303K NM_004237 NP_004228 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 303 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity 0 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) TAACATCACCGAGAAGATCGA 0.512 NA 9 90 0 0 0.004482 0 0 TRIO 7204 broad.mit.edu 37 5 14508363 14508363 + Silent SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:14508363G>C uc003jff.2 + 57 9132 c.9126G>C c.(9124-9126)GCG>GCC p.A3042A TRIO_uc003jfg.2_RNA NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 3042 Protein kinase. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity p.A3042V(1) skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) CCTCGGCTGCGCTGGCCCTCC 0.617 NA 16 51 0 0 0.004007 0 0 PRDM9 56979 broad.mit.edu 37 5 23522899 23522899 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:23522899G>A uc003jgo.2 + 8 969 c.787G>A c.(787-789)GAG>AAG p.E263K NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 263 SET. 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 AGTATGGAATGAGGCATCTGA 0.577 NA HNSCC(3;0.000094) 4 54 0 0 0.009096 0 0 CDH10 1008 broad.mit.edu 37 5 24535931 24535931 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:24535931C>A uc003jgr.1 - 4 859 c.527G>T c.(526-528)GGT>GTT p.G176V CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 176 Cadherin 2.|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) CACAGAAGTACCTGAAGTATC 0.443 NA HNSCC(23;0.051) 18 43 5.03518e-11 6.78307e-11 0.007413 1 0 NPR3 4883 broad.mit.edu 37 5 32712263 32712263 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:32712263G>T uc003jhv.2 + 1 599 c.381G>T c.(379-381)AAG>AAT p.K127N NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.K127N NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 127 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) GGGGCGCCAAGCCAGACCTTA 0.687 NA 8 122 0.00621372 0.00658747 0.006214 1 0 NIPBL 25836 broad.mit.edu 37 5 36976076 36976076 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:36976076C>T uc003jkl.3 + 9 1566 c.1067C>T c.(1066-1068)ACT>ATT p.T356I NIPBL_uc003jkk.3_Missense_Mutation_p.T356I|NIPBL_uc003jkm.1_Missense_Mutation_p.T235I NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 356 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AAGGACTCTACTAAACTTACA 0.368 NA 20 64 0 0 0.010504 0 0 ITGA1 3672 broad.mit.edu 37 5 52240860 52240860 + Missense_Mutation SNP A A G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:52240860A>G uc003jou.2 + 27 3425 c.3373A>G c.(3373-3375)AGA>GGA p.R1125G ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.R656G NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 1125 Extracellular (Potential). axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) CAATCAAAAAAGAGAGGTAAG 0.333 NA 15 128 0 0 0.003163 0 0 MAP3K1 4214 broad.mit.edu 37 5 56189376 56189376 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:56189376G>T uc003jqw.3 + 20 4909 c.4408G>T c.(4408-4410)GCT>TCT p.A1470S NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1470 Protein kinase. cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) TGCAACTACTGCTCCATCGAT 0.448 NA 4 41 2.0095e-06 2.38769e-06 0.001984 1 0 TAF9 6880 broad.mit.edu 37 5 68661433 68661433 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:68661433G>C uc003jwc.1 - 2 464 c.132C>G c.(130-132)TTC>TTG p.F44L TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_Missense_Mutation_p.F44L|TAF9_uc003jwe.1_Missense_Mutation_p.F44L|TAF9_uc003jwf.1_Missense_Mutation_p.F44L NM_003187 NP_003178 Q16594 TAF9_HUMAN TAF9 RNA polymerase II, TATA box binding 44 histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) TCACATATCGGAAGGCAAACT 0.418 NA 24 145 0 0 0.00278 0 0 SV2C 22987 broad.mit.edu 37 5 75490824 75490824 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:75490824C>T uc003kei.1 + 3 795 c.661C>T c.(661-663)CTT>TTT p.L221F NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 221 Cytoplasmic (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GAAACAGTCTCTTCTGATTTG 0.478 NA 28 258 0 0 0.007291 0 0 MCC 4163 broad.mit.edu 37 5 112418659 112418659 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:112418659C>G uc003kqj.3 - 9 1642 c.1112G>C c.(1111-1113)TGC>TCC p.C371S MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.C561S|MCC_uc011cwb.1_Missense_Mutation_p.C371S|MCC_uc010jcd.1_Missense_Mutation_p.C333S NM_002387 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 2 371 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GATATTGGAGCAGTCCTGAAG 0.448 NA 6 69 0 0 0.001168 0 0 HSPA4 3308 broad.mit.edu 37 5 132439557 132439557 + Nonsense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:132439557G>T uc003kyj.2 + 18 2439 c.2158G>T c.(2158-2160)GAG>TAG p.E720* NM_002154 NP_002145 P34932 HSP74_HUMAN heat shock 70kDa protein 4 720 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding lung(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTGGTTGCAGGAGGACCAGTA 0.408 Colon(114;1299 1588 6063 12302 48757) NA 7 78 2.7689e-08 3.5385e-08 0.001984 1 0 HSPA4 3308 broad.mit.edu 37 5 132439655 132439655 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:132439655G>A uc003kyj.2 + 18 2537 c.2256G>A c.(2254-2256)CAG>CAA p.Q752Q NM_002154 NP_002145 P34932 HSP74_HUMAN heat shock 70kDa protein 4 752 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding lung(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TAAATCTGCAGAACAAGCAGA 0.358 Colon(114;1299 1588 6063 12302 48757) NA 7 77 0 0 0.001984 0 0 SEC24A 10802 broad.mit.edu 37 5 134023904 134023904 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:134023904C>T uc003kzs.2 + 11 1926 c.1638C>T c.(1636-1638)TTC>TTT p.F546F SEC24A_uc011cxu.1_Silent_p.F310F NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 546 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAATTGGCTTCATAACATTTG 0.323 NA 7 90 0 0 0.00308 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209494 140209494 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:140209494G>T uc003lho.2 + 1 1845 c.1818G>T c.(1816-1818)TGG>TGT p.W606C PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.W606C NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 606 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAACGCGTGGCTTTCGTATG 0.657 NA 8 51 1.12685e-05 1.32038e-05 0.004482 1 0 PCDHA12 56137 broad.mit.edu 37 5 140256157 140256157 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:140256157C>T uc003lic.2 + 1 1227 c.1100C>T c.(1099-1101)ACC>ATC p.T367I PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.T367I NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 367 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGTGGGTACCGTCATTGCC 0.532 Pancreas(113;759 1672 13322 24104 50104) NA 8 48 0 0 0.00308 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140730766 140730766 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:140730766G>C uc003ljo.1 + 1 939 c.939G>C c.(937-939)TTG>TTC p.L313F PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.L313F NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 313 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATATGTGTTGAGTGTGGAAG 0.418 NA 7 100 0 0 0.00308 0 0 ARAP3 64411 broad.mit.edu 37 5 141036183 141036183 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:141036183C>A uc003llm.2 - 27 3755 c.3677G>T c.(3676-3678)CGG>CTG p.R1226L ARAP3_uc003lll.2_Missense_Mutation_p.R177L|ARAP3_uc011dbe.1_Missense_Mutation_p.R888L|ARAP3_uc003lln.2_Missense_Mutation_p.R1057L NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1226 PH 3. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 CAGCCCCACCCGTGGGCTCTC 0.642 NA 5 11 5.9392e-07 7.28198e-07 0.001168 1 0 PCDH1 5097 broad.mit.edu 37 5 141243094 141243094 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:141243094C>T uc003llq.2 - 3 2919 c.2802G>A c.(2800-2802)CAG>CAA p.Q934Q PCDH1_uc003llp.2_Silent_p.Q934Q|PCDH1_uc011dbf.1_Silent_p.Q912Q NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 934 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TGAGGGACTTCTGCAGCCCGG 0.622 Ovarian(132;1609 1739 4190 14731 45037) NA 4 19 0 0 0.009096 0 0 POU4F3 5459 broad.mit.edu 37 5 145719212 145719212 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:145719212C>A uc003loa.2 + 2 311 c.222C>A c.(220-222)TTC>TTA p.F74L NM_002700 NP_002691 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 74 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) ACCATCCGTTCAAGCCCGACG 0.607 NA 4 50 0.00116845 0.00127057 0.001168 1 0 CYFIP2 26999 broad.mit.edu 37 5 156746826 156746826 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:156746826C>T uc003lwq.2 + 16 1551 c.1413C>T c.(1411-1413)TTC>TTT p.F471F CYFIP2_uc011ddn.1_Silent_p.F445F|CYFIP2_uc011ddo.1_Silent_p.F275F|CYFIP2_uc003lwr.2_Silent_p.F471F|CYFIP2_uc003lws.2_Silent_p.F471F|CYFIP2_uc003lwt.2_Silent_p.F349F|CYFIP2_uc011ddp.1_Silent_p.F205F NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 471 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGAGCGTCTTCAACCAGGCCA 0.597 NA 7 63 0 0 0.001984 0 0 GABRA1 2554 broad.mit.edu 37 5 161277868 161277868 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:161277868C>T uc010jiw.2 + 3 520 c.52C>T c.(52-54)CTG>TTG p.L18L GABRA1_uc010jix.2_Silent_p.L18L|GABRA1_uc010jiy.2_Silent_p.L18L|GABRA1_uc003lyx.3_Silent_p.L18L|GABRA1_uc010jiz.2_Silent_p.L18L|GABRA1_uc010jja.2_Silent_p.L18L|GABRA1_uc010jjb.2_Silent_p.L18L NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 18 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) 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;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GATCCTCCTTCTGAGCACACT 0.428 NA 7 82 0 0 0.006214 0 0 C5orf25 375484 broad.mit.edu 37 5 175722195 175722195 + Missense_Mutation SNP A A T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:175722195A>T uc003mds.3 + 5 1944 c.1537A>T c.(1537-1539)ATC>TTC p.I513F C5orf25_uc003mdt.3_Missense_Mutation_p.I98F|C5orf25_uc003mdr.3_RNA|C5orf25_uc011dfk.1_Missense_Mutation_p.I532F Q8NDZ2 CE025_HUMAN RecName: Full=Uncharacterized protein C5orf25; 513 0 all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.119) CATCCAGAAAATCTTGCTCAG 0.468 NA 8 26 0 0 0.004482 0 0 MAML1 9794 broad.mit.edu 37 5 179192648 179192648 + Missense_Mutation SNP A A T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:179192648A>T uc003mkm.2 + 2 900 c.637A>T c.(637-639)AAT>TAT p.N213Y MAML1_uc003mkn.1_Missense_Mutation_p.N213Y NM_014757 NP_055572 Q92585 MAML1_HUMAN mastermind-like 1 213 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity lung(4)|ovary(2) 6 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTGAGCCTGAATAAAGAACT 0.522 NA 11 38 0 0 0.010729 0 0 OR2V2 285659 broad.mit.edu 37 5 180582569 180582569 + Silent SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:180582569C>G uc011dhj.1 + 1 627 c.627C>G c.(625-627)CTC>CTG p.L209L NM_206880 NP_996763 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, 209 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCATGCTTCTCTTCCCATTCT 0.498 NA 13 163 0 0 0.001855 0 0 GNB2L1 10399 broad.mit.edu 37 5 180668575 180668575 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr5:180668575C>T uc003mni.1 - 3 452 c.346G>A c.(346-348)GAC>AAC p.D116N GNB2L1_uc003mnh.1_Missense_Mutation_p.D75N|GNB2L1_uc003mnk.1_Missense_Mutation_p.D38N|GNB2L1_uc003mnj.1_Missense_Mutation_p.D70N|GNB2L1_uc003mnl.1_5'UTR|GNB2L1_uc011dhk.1_Missense_Mutation_p.D116N|GNB2L1_uc010jls.2_Missense_Mutation_p.D75N|GNB2L1_uc011dhl.1_Missense_Mutation_p.D116N NM_006098 NP_006089 P63244 GBLP_HUMAN guanine nucleotide binding protein (G protein), 116 WD 3. apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding 0 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11) TGCCGGTTGTCAGAGGAGAAG 0.512 NA 5 88 0 0 0.001168 0 0 DUSP22 56940 broad.mit.edu 37 6 345916 345916 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr6:345916G>T uc003msx.2 + 5 690 c.251G>T c.(250-252)TGC>TTC p.C84F DUSP22_uc011dhn.1_Missense_Mutation_p.C84F|DUSP22_uc003msy.1_Missense_Mutation_p.C41F NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 84 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GGTGAGAGCTGCCTTGTACAC 0.443 NA 6 89 0.00116845 0.00127057 0.001168 1 0 SLC17A4 10050 broad.mit.edu 37 6 25762199 25762200 + Nonsense_Mutation DNP CG CG AT TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr6:25762199_25762200CG>AT uc003nfe.2 + 2 128_129 c.9_10CG>AT c.(7-12)ACCGGA>ACATGA p.G4* SLC17A4_uc011djx.1_Nonsense_Mutation_p.G4*|SLC17A4_uc003nff.1_Translation_Start_Site|SLC17A4_uc003nfg.2_Translation_Start_Site NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 4 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 AAATGTCTACCGGACCAGATGT 0.401 NA 6 37 0 0 0.004672 0 0 HIST1H2BI 8346 broad.mit.edu 37 6 26273272 26273272 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr6:26273272G>C uc003nhk.2 + 1 69 c.69G>C c.(67-69)CAG>CAC p.Q23H HIST1H3G_uc003nhi.2_5'Flank NM_003525 NP_003516 P62807 H2B1C_HUMAN histone cluster 1, H2bi 23 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 CCAAGGCACAGAAGAAGGATG 0.582 NA 15 162 0 0 0.003163 0 0 BTN3A3 10384 broad.mit.edu 37 6 26452057 26452057 + Silent SNP A A C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr6:26452057A>C uc003nhz.2 + 11 1353 c.1173A>C c.(1171-1173)ACA>ACC p.T391T BTN3A3_uc003nia.2_Silent_p.T349T|BTN3A3_uc011dkn.1_Silent_p.T342T NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 391 B30.2/SPRY.|Cytoplasmic (Potential). integral to membrane 0 AAAACTTCACATCAGGGAGAC 0.502 NA 5 41 0 0 0.000602 0 0 BTN2A1 11120 broad.mit.edu 37 6 26468505 26468505 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr6:26468505G>A uc003nib.1 + 8 1524 c.1312G>A c.(1312-1314)GAT>AAT p.D438N BTN2A1_uc003nic.1_3'UTR|BTN2A1_uc003nid.1_Missense_Mutation_p.D286N|BTN2A1_uc011dko.1_Missense_Mutation_p.D377N|BTN2A1_uc010jqk.1_Missense_Mutation_p.D198N NM_007049 NP_008980 Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 isoform 1 438 Cytoplasmic (Potential).|B30.2/SPRY. lipid metabolic process integral to plasma membrane ovary(1)|skin(1) 2 GTCCTCCCCTGATAGGATTCT 0.537 NA 7 66 0 0 0.001984 0 0 OR10C1 442194 broad.mit.edu 37 6 29407927 29407927 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr6:29407927G>A uc011dlp.1 + 1 135 c.135G>A c.(133-135)GTG>GTA p.V45V OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 45 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCCTCATTGTGGTGCTGGTCT 0.572 NA 17 98 0 0 0.004007 0 0 C6orf15 29113 broad.mit.edu 37 6 31079340 31079340 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr6:31079340G>A uc003nsk.1 - 2 796 c.796C>T c.(796-798)CGG>TGG p.R266W NM_014070 NP_054789 Q6UXA7 CF015_HUMAN STG protein precursor 266 Gly-rich. 0 CCTGGATACCGATTAATATTT 0.498 NA 5 71 0 0 0.001168 0 0 MSH5 4439 broad.mit.edu 37 6 31726640 31726640 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr6:31726640C>G uc003nwv.1 + 15 1393 c.1314C>G c.(1312-1314)ATC>ATG p.I438M MSH5_uc003nwt.1_Missense_Mutation_p.I455M|MSH5_uc003nwu.1_Missense_Mutation_p.I438M|MSH5_uc003nww.1_Missense_Mutation_p.I438M|MSH5_uc003nwx.1_Missense_Mutation_p.I455M|MSH5_uc011dof.1_Missense_Mutation_p.I137M|MSH5_uc003nwy.1_Missense_Mutation_p.I112M|MSH5_uc003nwz.3_5'Flank NM_172166 NP_751898 O43196 MSH5_HUMAN mutS homolog 5 isoform c 438 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding ovary(2)|breast(1) 3 GCAGTGTCATCTACATCCCTC 0.478 NA Direct_reversal_of_damage|MMR 7 65 0 0 0.001984 0 0 FKBPL 63943 broad.mit.edu 37 6 32097284 32097284 + Nonsense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr6:32097284G>A uc003nzr.2 - 2 544 c.274C>T c.(274-276)CAA>TAA p.Q92* ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank NM_022110 NP_071393 Q9UIM3 FKBPL_HUMAN WAF-1/CIP1 stabilizing protein 39 92 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 TCAGAAGCTTGAAGGGCCTCT 0.498 NA 6 69 0 0 0.001984 0 0 NOTCH4 4855 broad.mit.edu 37 6 32181887 32181887 + Nonsense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr6:32181887C>A uc003obb.2 - 13 2306 c.2167G>T c.(2167-2169)GGA>TGA p.G723* NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 723 Extracellular (Potential).|EGF-like 18. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 AGGGTCTCACCTGTGTAGCCT 0.617 NA 29 113 2.80507e-11 3.79088e-11 0.012213 1 0 GPR116 221395 broad.mit.edu 37 6 46826549 46826549 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr6:46826549G>C uc003oyo.3 - 17 3380 c.3091C>G c.(3091-3093)CTA>GTA p.L1031V GPR116_uc011dwj.1_Missense_Mutation_p.L586V|GPR116_uc011dwk.1_Missense_Mutation_p.L460V|GPR116_uc003oyp.3_Missense_Mutation_p.L889V|GPR116_uc003oyq.3_Missense_Mutation_p.L1031V|GPR116_uc010jzi.1_Missense_Mutation_p.L703V NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 1031 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) TCCACAACTAGACAGGCTGCC 0.512 NSCLC(59;410 1274 8751 36715 50546) NA 5 45 0 0 0.000602 0 0 PKHD1 5314 broad.mit.edu 37 6 51890718 51890718 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr6:51890718G>A uc003pah.1 - 32 4166 c.3890C>T c.(3889-3891)GCG>GTG p.A1297V PKHD1_uc003pai.2_Missense_Mutation_p.A1297V NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1297 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TGTTGCTGCCGCTTCATACAT 0.542 NA 4 51 0 0 0.000602 0 0 SNAP91 9892 broad.mit.edu 37 6 84371233 84371233 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr6:84371233C>T uc011dze.1 - 5 757 c.440G>A c.(439-441)AGG>AAG p.R147K SNAP91_uc003pkb.2_Missense_Mutation_p.R112K|SNAP91_uc003pkc.2_Missense_Mutation_p.R147K|SNAP91_uc003pkd.2_Missense_Mutation_p.R147K|SNAP91_uc003pka.2_Missense_Mutation_p.R147K|SNAP91_uc011dzf.1_Missense_Mutation_p.R28K NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog 147 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) TTTCTTCACCCTGGCAAAATC 0.348 NA 8 33 0 0 0.006214 0 0 TAAR5 9038 broad.mit.edu 37 6 132910535 132910535 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr6:132910535C>G uc003qdk.2 - 1 343 c.291G>C c.(289-291)GAG>GAC p.E97D NM_003967 NP_003958 O14804 TAAR5_HUMAN trace amine associated receptor 5 97 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity skin(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) ACCAGCAGCTCTCCACTGAGC 0.587 NA 8 58 0 0 0.004482 0 0 IL20RA 53832 broad.mit.edu 37 6 137330561 137330561 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr6:137330561G>T uc003qhj.2 - 4 905 c.472C>A c.(472-474)CCA>ACA p.P158T IL20RA_uc011edl.1_Missense_Mutation_p.P109T|IL20RA_uc003qhk.2_Missense_Mutation_p.P47T|IL20RA_uc010kgy.1_RNA|IL20RA_uc003qhi.2_5'Flank NM_014432 NP_055247 Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha precursor 158 Extracellular (Potential).|Fibronectin type-III 2. integral to membrane receptor activity ovary(2)|skin(2) 4 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) CACTTCTCTGGAGCTGTCAGG 0.423 NA 17 68 5.01169e-05 5.71414e-05 0.00499 1 0 TAGAP 117289 broad.mit.edu 37 6 159463125 159463125 + Silent SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr6:159463125G>T uc003qrz.2 - 5 632 c.300C>A c.(298-300)CTC>CTA p.L100L TAGAP_uc011eft.1_Silent_p.L37L|TAGAP_uc003qsa.2_Intron|TAGAP_uc003qsb.2_Silent_p.L100L|uc003qsc.2_5'Flank NM_054114 NP_473455 Q8N103 TAGAP_HUMAN T-cell activation Rho GTPase-activating protein 100 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TGGGTCTGGGGAGTGTGTCAC 0.458 NA 12 181 6.40141e-05 7.25951e-05 0.010729 1 0 FNDC1 84624 broad.mit.edu 37 6 159654341 159654341 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr6:159654341G>T uc010kjv.2 + 11 2997 c.2797G>T c.(2797-2799)GGG>TGG p.G933W FNDC1_uc010kjw.1_Missense_Mutation_p.G818W NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 933 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CAAATCCACAGGGGCAGATAC 0.607 NA 4 23 0.00909568 0.00957083 0.009096 1 0 SUN1 23353 broad.mit.edu 37 7 892283 892283 + Missense_Mutation SNP A A G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:892283A>G uc011jvp.1 + 9 968 c.889A>G c.(889-891)ATC>GTC p.I297V GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.I214V|SUN1_uc011jvq.1_Missense_Mutation_p.I195V|SUN1_uc003sjg.2_Missense_Mutation_p.I202V|SUN1_uc011jvr.1_Missense_Mutation_p.I106V|SUN1_uc003sji.2_Missense_Mutation_p.I135V|SUN1_uc003sjk.2_5'UTR NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 324 Helical. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 AGTCTTGCTCATCCCACTCTT 0.413 NA 11 178 0 0 0.001368 0 0 FOXK1 221937 broad.mit.edu 37 7 4798715 4798715 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:4798715G>A uc003snc.1 + 6 1288 c.1278G>A c.(1276-1278)CTG>CTA p.L426L FOXK1_uc003sna.1_Silent_p.L263L NM_001037165 NP_001032242 P85037 FOXK1_HUMAN forkhead box K1 426 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter 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 upper_aerodigestive_tract(1)|skin(1) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) ACCCCGGGCTGATGTCCCCTC 0.672 NA 6 73 0 0 0.001984 0 0 PMS2 5395 broad.mit.edu 37 7 6029467 6029467 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:6029467G>C uc003spl.2 - 10 1195 c.1108C>G c.(1108-1110)CTA>GTA p.L370V PMS2_uc003spj.2_Missense_Mutation_p.L264V|PMS2_uc003spk.2_Missense_Mutation_p.L235V|PMS2_uc011jwl.1_Missense_Mutation_p.L235V|PMS2_uc010ktg.2_Missense_Mutation_p.L59V|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.L370V NM_000535 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 isoform 370 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) CTGACATTTAGCTTGTTGACA 0.353 NA Mis|N|F colorectal|endometrial|ovarian|medulloblastoma|glioma Direct_reversal_of_damage|MMR Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 19 113 0 0 0.012319 0 0 ABCB5 340273 broad.mit.edu 37 7 20698213 20698213 + Nonsense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:20698213C>T uc003suw.3 + 5 832 c.286C>T c.(286-288)CGA>TGA p.R96* ABCB5_uc010kuh.2_Nonsense_Mutation_p.R541*|ABCB5_uc003suv.3_Nonsense_Mutation_p.R96*|ABCB5_uc011jyi.1_Nonsense_Mutation_p.R96* NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 96 ABC transporter 1.|Extracellular (Potential). regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 TGCCTTAGTTCGAAACCCCAA 0.438 NA 6 49 0 0 0.001984 0 0 HOXA1 3198 broad.mit.edu 37 7 27135384 27135384 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:27135384C>G uc003sye.2 - 1 242 c.148G>C c.(148-150)GAC>CAC p.D50H HOXA1_uc003syd.2_Missense_Mutation_p.D50H|uc003syg.2_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN homeobox A1 isoform a 50 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 AAGCGGTCGTCGCCGCCGCAA 0.537 NA OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 60 0 0 0.001984 0 0 NT5C3 51251 broad.mit.edu 37 7 33057107 33057107 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:33057107C>A uc003tdk.2 - 7 729 c.652G>T c.(652-654)GGT>TGT p.G218C AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.G179C|NT5C3_uc003tdj.2_Missense_Mutation_p.G179C NM_001002010 NP_001002010 Q9H0P0 5NT3_HUMAN 5'-nucleotidase, cytosolic III isoform 1 218 nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol|endoplasmic reticulum 2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 GBM - Glioblastoma multiforme(11;0.0894) TGATAAACACCAGCTTGACGA 0.333 NA 25 84 3.01185e-09 3.94431e-09 0.003954 1 0 TBX20 57057 broad.mit.edu 37 7 35242089 35242089 + Missense_Mutation SNP T T A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:35242089T>A uc011kas.1 - 8 1308 c.1297A>T c.(1297-1299)ATT>TTT p.I433F NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN T-box transcription factor TBX20 433 nucleus DNA binding central_nervous_system(1) 1 AGTCCTTGAATGGCAGCATAG 0.502 NA 3 9 0 0 0.004672 0 0 C7orf36 57002 broad.mit.edu 37 7 39610121 39610121 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:39610121G>C uc003thc.3 + 2 155 c.146G>C c.(145-147)GGA>GCA p.G49A NM_020192 NP_064577 Q9NRH1 CG036_HUMAN hypothetical protein LOC57002 49 0 TATAGAGATGGAATAGATGCT 0.368 NA 16 135 0 0 0.00499 0 0 ADCY1 107 broad.mit.edu 37 7 45650011 45650011 + Missense_Mutation SNP G G A rs80190930 TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:45650011G>A uc003tne.3 + 3 841 c.823G>A c.(823-825)GTT>ATT p.V275I ADCY1_uc003tnd.2_Missense_Mutation_p.V50I NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 275 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GCCCCGGAACGTTGCCATGGA 0.597 NA 13 133 0 0 0.004007 0 0 PTPN12 5782 broad.mit.edu 37 7 77265123 77265123 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:77265123G>C uc003ugh.2 + 15 2190 c.2099G>C c.(2098-2100)AGT>ACT p.S700T PTPN12_uc011kgp.1_Missense_Mutation_p.S581T|PTPN12_uc011kgq.1_Missense_Mutation_p.S570T|PTPN12_uc010lds.2_Missense_Mutation_p.S432T NM_002835 NP_002826 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 700 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding ovary(1)|breast(1)|pancreas(1) 3 TCGGAATGGAGTGAACTTCAA 0.303 NA 8 29 0 0 0.00308 0 0 STEAP4 79689 broad.mit.edu 37 7 87913242 87913242 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:87913242C>G uc003ujs.2 - 2 448 c.343G>C c.(343-345)GAA>CAA p.E115Q STEAP4_uc010lek.2_Missense_Mutation_p.E115Q|STEAP4_uc003ujt.2_Missense_Mutation_p.E115Q NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 115 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 Esophageal squamous(14;0.00802) GCATTAGATTCTGGATATTGA 0.433 NA 8 126 0 0 0.004482 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965143 88965143 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:88965143C>A uc011khi.1 + 4 3385 c.2847C>A c.(2845-2847)AAC>AAA p.N949K NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 949 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TCTCTTCAAACAGTTGTAAAA 0.403 NA HNSCC(36;0.09) 49 145 5.2432e-18 7.51822e-18 0.00361 1 0 STEAP1 26872 broad.mit.edu 37 7 89793973 89793973 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:89793973G>A uc003ujx.2 + 5 1145 c.945G>A c.(943-945)AAG>AAA p.K315K STEAP2_uc003ujy.2_5'Flank NM_012449 NP_036581 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the 315 electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 all_hematologic(106;0.112) GCTTGAGGAAGAAGATACTGA 0.348 NA 6 71 0 0 0.001168 0 0 GTPBP10 85865 broad.mit.edu 37 7 89984473 89984473 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:89984473C>G uc003ukm.1 + 4 459 c.393C>G c.(391-393)TTC>TTG p.F131L GTPBP10_uc003uki.1_Missense_Mutation_p.F148L|GTPBP10_uc003ukj.1_Missense_Mutation_p.F122L|GTPBP10_uc003ukk.1_Intron|GTPBP10_uc003ukl.1_RNA|GTPBP10_uc003ukn.1_Intron|GTPBP10_uc003uko.1_Intron NM_033107 NP_149098 A4D1E9 GTPBA_HUMAN GTP-binding protein 10 isoform 2 131 ribosome biogenesis chromosome|nucleolus GTP binding|GTPase activity|magnesium ion binding 0 TTACAAATTTCTTACCATTGA 0.328 NA 6 122 0 0 0.001168 0 0 PLOD3 8985 broad.mit.edu 37 7 100850884 100850885 + Missense_Mutation DNP CT CT AC TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:100850884_100850885CT>AC uc003uyd.2 - 17 2365_2366 c.1909_1910AG>GT c.(1909-1911)AGC>GTC p.S637V PLOD3_uc010lhs.2_Missense_Mutation_p.S202V NM_001084 NP_001075 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 637 protein modification process rough endoplasmic reticulum membrane 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-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) GGGAAACAGGCTCTCGGTCATG 0.644 NA 6 31 0 0 0.004672 0 0 SPDYE6 729597 broad.mit.edu 37 7 101988909 101988909 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:101988909G>C uc011kkp.1 - 6 1385 c.964C>G c.(964-966)CCG>GCG p.P322A SPDYE6_uc003uzb.2_Missense_Mutation_p.P178A NM_001146210 NP_001139682 P0CI01 SPDE6_HUMAN speedy homolog E6 322 Arg-rich. 0 CTGGCCCTCGGGTTCGTGGAA 0.572 NA 14 356 0 0 0.00278 0 0 NRCAM 4897 broad.mit.edu 37 7 107880462 107880462 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:107880462C>T uc003vfb.2 - 4 518 c.47G>A c.(46-48)AGA>AAA p.R16K NRCAM_uc003vfc.2_Missense_Mutation_p.R16K|NRCAM_uc011kmk.1_Missense_Mutation_p.R11K|NRCAM_uc003vfd.2_Missense_Mutation_p.R11K|NRCAM_uc003vfe.2_Missense_Mutation_p.R11K NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 16 angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 CAGGGGCACTCTGCCCGCAGA 0.433 NA 13 106 0 0 0.004007 0 0 GPR85 54329 broad.mit.edu 37 7 112723882 112723882 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:112723882C>A uc010ljv.2 - 2 1412 c.895G>T c.(895-897)GGC>TGC p.G299C GPR85_uc003vgp.1_Missense_Mutation_p.G299C|GPR85_uc003vgq.2_Missense_Mutation_p.G299C|GPR85_uc010ljw.1_Missense_Mutation_p.G299C NM_001146266 NP_001139738 P60893 GPR85_HUMAN G protein-coupled receptor 85 299 Helical; Name=6; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|central_nervous_system(1) 2 AGGTAGGGGCCCCACAAGGTT 0.458 NA 32 64 2.70662e-09 3.55559e-09 0.009535 1 0 CTTNBP2 83992 broad.mit.edu 37 7 117432597 117432597 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:117432597C>T uc003vjf.2 - 4 745 c.653G>A c.(652-654)CGA>CAA p.R218Q NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 218 Potential. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TGTGCTTCTTCGTTTCTCAGC 0.478 NA 9 47 0 0 0.004482 0 0 ANKRD7 56311 broad.mit.edu 37 7 117876107 117876107 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:117876107C>T uc003vji.2 + 4 654 c.481C>T c.(481-483)CCA>TCA p.P161S NM_019644 NP_062618 Q92527 ANKR7_HUMAN ankyrin repeat domain 7 161 ANK 4. male gonad development 0 TGGGTATACTCCACTATTAGT 0.274 NA 8 83 0 0 0.00308 0 0 RNF133 168433 broad.mit.edu 37 7 122338097 122338097 + Silent SNP T T A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:122338097T>A uc003vkj.1 - 1 1112 c.876A>T c.(874-876)ACA>ACT p.T292T CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN ring finger protein 133 292 RING-type; atypical. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding skin(1) 1 AAATGGGGCATGTCCCATGGG 0.383 Colon(198;1778 2057 7449 19869 45985) NA 24 80 0 0 0.00333 0 0 WASL 8976 broad.mit.edu 37 7 123332669 123332669 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:123332669G>A uc003vkz.2 - 9 1407 c.1079C>T c.(1078-1080)CCA>CTA p.P360L NM_003941 NP_003932 O00401 WASL_HUMAN Wiskott-Aldrich syndrome gene-like protein 360 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity 0 TGGAGGTGGTGGTGGAGGCCC 0.667 NA 23 117 0 0 0.002299 0 0 CNOT4 4850 broad.mit.edu 37 7 135080502 135080502 + Nonsense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:135080502G>C uc003vsv.1 - 9 1320 c.1013C>G c.(1012-1014)TCA>TGA p.S338* CNOT4_uc003vss.2_Nonsense_Mutation_p.S335*|CNOT4_uc011kpz.1_Nonsense_Mutation_p.S335*|CNOT4_uc003vst.2_Nonsense_Mutation_p.S338*|CNOT4_uc003vsu.1_Nonsense_Mutation_p.S335*|CNOT4_uc011kpy.1_Nonsense_Mutation_p.S338* NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 338 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 AAAATTGTCTGAGAATAACGA 0.517 Ovarian(51;766 1130 5502 35047 50875) NA 12 66 0 0 0.001368 0 0 TRIM24 8805 broad.mit.edu 37 7 138189108 138189108 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:138189108G>T uc003vuc.2 + 2 653 c.438G>T c.(436-438)AAG>AAT p.K146N TRIM24_uc003vub.2_Missense_Mutation_p.K146N NM_015905 NP_056989 O15164 TIF1A_HUMAN transcriptional intermediary factor 1 alpha 146 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1) 8 TTTTTGTGAAGGACACTACTG 0.373 Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014) NA 24 133 2.21704e-12 3.04482e-12 0.00278 1 0 SVOPL 136306 broad.mit.edu 37 7 138347839 138347839 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:138347839C>T uc011kqh.1 - 4 325 c.325G>A c.(325-327)GAC>AAC p.D109N SVOPL_uc003vue.2_5'UTR NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN SVOP-like isoform 1 109 integral to membrane transmembrane transporter activity 0 CCATATCTGTCAGCCAGGAGG 0.453 NA 6 27 0 0 0.00308 0 0 ZNF786 136051 broad.mit.edu 37 7 148769014 148769014 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:148769014G>C uc003wfh.2 - 4 987 c.850C>G c.(850-852)CCC>GCC p.P284A ZNF786_uc011kuk.1_Missense_Mutation_p.P247A|ZNF786_uc003wfi.2_Missense_Mutation_p.P198A NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 284 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CGGTGGCTGGGATGGGTCAGC 0.697 NA 5 31 0 0 0.000602 0 0 SSPO 23145 broad.mit.edu 37 7 149519225 149519225 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr7:149519225C>T uc010lpk.2 + 91 13029 c.13029C>T c.(13027-13029)CCC>CCT p.P4343P SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_RNA|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_5'Flank NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 4343 TSP type-1 21. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGGCCGACCCCACCTGCAACA 0.672 NA 6 54 0 0 0.00308 0 0 BMP1 649 broad.mit.edu 37 8 22067158 22067158 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr8:22067158G>A uc003xbg.2 + 19 3020 c.2776G>A c.(2776-2778)GAC>AAC p.D926N BMP1_uc011kzc.1_Missense_Mutation_p.D675N|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA NM_006129 NP_006120 P13497 BMP1_HUMAN bone morphogenetic protein 1 isoform 3 926 CUB 5. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding ovary(2)|breast(1) 3 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) GGAGCTCTTCGACGGCTACGA 0.667 NA 12 101 0 0 0.003163 0 0 CHRNA2 1135 broad.mit.edu 37 8 27328547 27328547 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr8:27328547G>T uc010lur.2 - 2 638 c.29C>A c.(28-30)TCC>TAC p.S10Y CHRNA2_uc011lal.1_Missense_Mutation_p.S10Y|CHRNA2_uc010lus.2_5'UTR NM_000742 NP_000733 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 10 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(1) 1 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) CTTTGTGAAGGACAGGAACAC 0.562 NA 5 23 2.0095e-06 2.38769e-06 0.001984 1 0 WRN 7486 broad.mit.edu 37 8 31024633 31024633 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr8:31024633G>C uc003xio.3 + 34 4866 c.4078G>C c.(4078-4080)GAC>CAC p.D1360H WRN_uc010lvk.2_Missense_Mutation_p.D827H NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 1360 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) ACATGGTCCTGACAGCGGACT 0.398 Ovarian(18;161 598 2706 14834 27543) NA Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 11 73 0 0 0.010729 0 0 PRKDC 5591 broad.mit.edu 37 8 48817449 48817449 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr8:48817449C>A uc003xqi.2 - 26 3079 c.3022G>T c.(3022-3024)GCC>TCC p.A1008S PRKDC_uc003xqj.2_Missense_Mutation_p.A1008S|PRKDC_uc011ldh.1_Missense_Mutation_p.A1008S NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1008 HEAT 2. A -> S (in Ref. 2; AAC50210). cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TCTAGTAAGGCAACAGTATCC 0.323 Esophageal Squamous(79;1091 1253 12329 31680 40677) NA NHEJ 12 98 2.27111e-07 2.83386e-07 0.001368 1 0 TOX 9760 broad.mit.edu 37 8 59750834 59750834 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr8:59750834C>A uc003xtw.1 - 5 951 c.730G>T c.(730-732)GGG>TGG p.G244W NM_014729 NP_055544 O94900 TOX_HUMAN thymus high mobility group box protein TOX 244 Nuclear localization signal (Potential). nucleus DNA binding kidney(2)|lung(1)|skin(1) 4 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) GGTTTTTTCCCCATATCAGAG 0.443 Pancreas(161;610 1969 17913 21374 22725) NA 9 112 2.17888e-05 2.51135e-05 0.006214 1 0 CLVS1 157807 broad.mit.edu 37 8 62212729 62212729 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr8:62212729G>A uc003xuh.2 + 2 667 c.343G>A c.(343-345)GAT>AAT p.D115N CLVS1_uc003xug.2_Missense_Mutation_p.D115N|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Missense_Mutation_p.D115N NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 115 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 CAAGGCAGATGATCCCGGCAT 0.507 NA 5 51 0 0 0.000602 0 0 CA3 761 broad.mit.edu 37 8 86356314 86356314 + Missense_Mutation SNP A A G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr8:86356314A>G uc003ydj.2 + 4 486 c.403A>G c.(403-405)AAG>GAG p.K135E CA3_uc011lfv.1_RNA NM_005181 NP_005172 P07451 CAH3_HUMAN carbonic anhydrase III 135 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 AGAAGCCCTGAAGCAGCGCGA 0.378 NA 19 58 0 0 0.008871 0 0 RGS22 26166 broad.mit.edu 37 8 100994191 100994191 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr8:100994191C>T uc003yjb.1 - 22 3529 c.3334G>A c.(3334-3336)GGA>AGA p.G1112R RGS22_uc003yja.1_Missense_Mutation_p.G931R|RGS22_uc003yjc.1_Missense_Mutation_p.G1100R NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1112 RGS 2. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ACATATGGTCCTAACTCCTTC 0.358 NA 28 289 0 0 0.008361 0 0 RIMS2 9699 broad.mit.edu 37 8 104955058 104955058 + Nonsense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr8:104955058C>T uc003yls.2 + 12 2180 c.1939C>T c.(1939-1941)CAG>TAG p.Q647* RIMS2_uc003ylp.2_Nonsense_Mutation_p.Q869*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.Q661*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.Q661*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.Q708*|RIMS2_uc003ylt.2_Nonsense_Mutation_p.Q254* NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 931 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GTACAAACTTCAGACGCATGA 0.413 NA HNSCC(12;0.0054) 4 51 0 0 0.000602 0 0 CSMD3 114788 broad.mit.edu 37 8 113484921 113484921 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr8:113484921C>G uc003ynu.2 - 32 5453 c.5294G>C c.(5293-5295)CGT>CCT p.R1765P CSMD3_uc003yns.2_Missense_Mutation_p.R1037P|CSMD3_uc003ynt.2_Missense_Mutation_p.R1725P|CSMD3_uc011lhx.1_Missense_Mutation_p.R1661P NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1765 Extracellular (Potential).|CUB 10. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ACCTGTTGAACGACTTCCACA 0.318 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 12 59 0 0 0.001855 0 0 ADCY8 114 broad.mit.edu 37 8 132002737 132002737 + Missense_Mutation SNP T T A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr8:132002737T>A uc003ytd.3 - 2 1268 c.1012A>T c.(1012-1014)ATC>TTC p.I338F ADCY8_uc010mds.2_Missense_Mutation_p.I338F NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 338 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AGGTAACTGATGAAGATTCCA 0.512 NA HNSCC(32;0.087) 14 151 0 0 0.004007 0 0 GPAA1 8733 broad.mit.edu 37 8 145140004 145140004 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr8:145140004G>A uc003zax.2 + 9 1333 c.1223G>A c.(1222-1224)GGT>GAT p.G408D NM_003801 NP_003792 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 408 Cytoplasmic (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GAGCCCGGGGGTGCCCCTGGC 0.592 NA 4 26 0 0 0.000602 0 0 SLC24A2 25769 broad.mit.edu 37 9 19520910 19520910 + Missense_Mutation SNP A A G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr9:19520910A>G uc003zoa.1 - 9 1780 c.1718T>C c.(1717-1719)ATT>ACT p.I573T SLC24A2_uc003zob.1_Missense_Mutation_p.I556T NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 573 Helical; (Potential). visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) GATGTCAAAAATGTTGCTTCC 0.507 NA 10 100 0 0 0.010729 0 0 CTSL3 392360 broad.mit.edu 37 9 90387899 90387899 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr9:90387899G>A uc004apm.1 + 1 70 c.64G>A c.(64-66)GCC>ACC p.A22T NR_027917 RecName: Full=Putative cathepsin L-like protein 3; Short=Cathepsin L-like protein; AltName: Full=HCTSL-s; ovary(1) 1 GGCCATGAACGCCTTTGGAGA 0.453 NA 6 54 0 0 0.001984 0 0 FAM22F 54754 broad.mit.edu 37 9 97082700 97082700 + Silent SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr9:97082700G>T uc004aup.1 - 5 1179 c.1158C>A c.(1156-1158)GTC>GTA p.V386V NM_017561 NP_060031 A1L443 FA22F_HUMAN hypothetical protein LOC54754 386 Pro-rich. 0 Acute lymphoblastic leukemia(62;0.136) TCTCCTCAGGGACCTTGGTCT 0.667 NA 14 50 3.27435e-08 4.15931e-08 0.00245 1 0 KIAA1529 57653 broad.mit.edu 37 9 100092805 100092805 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr9:100092805C>T uc011lut.1 + 30 3352 c.2579C>T c.(2578-2580)CCA>CTA p.P860L KIAA1529_uc004axe.1_Missense_Mutation_p.P860L|KIAA1529_uc004axg.1_Missense_Mutation_p.P721L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.P45L|KIAA1529_uc011lus.1_Missense_Mutation_p.P678L|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.P721L|KIAA1529_uc011luv.1_Missense_Mutation_p.P718L NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) AAAAAATCTCCACTGCATGCT 0.463 NA 5 48 0 0 0.001984 0 0 SVEP1 79987 broad.mit.edu 37 9 113198749 113198749 + Missense_Mutation SNP T T G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr9:113198749T>G uc010mtz.2 - 28 5012 c.4675A>C c.(4675-4677)AAA>CAA p.K1559Q NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1559 Pentaxin. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TCTCCTTTTTTGTCTTGCTCT 0.483 NA 9 39 0 0 0.004482 0 0 TMEM8C 389827 broad.mit.edu 37 9 136380688 136380688 + Missense_Mutation SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr9:136380688C>G uc011mdk.1 - 4 441 c.441G>C c.(439-441)AAG>AAC p.K147N NM_001080483 NP_001073952 A6NI61 TMM8C_HUMAN transmembrane protein 8C 147 integral to membrane 0 TGTAGACGCTCTTGTCTGGGT 0.597 NA 4 41 0 0 0.001984 0 0 CACNA1B 774 broad.mit.edu 37 9 140880937 140880937 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr9:140880937C>A uc004cog.2 + 14 1987 c.1842C>A c.(1840-1842)TTC>TTA p.F614L CACNA1B_uc011mfd.1_Missense_Mutation_p.F145L NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 614 Helical; Name=S5 of repeat II; (Potential).|II. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GCCTGCTCTTCTTGCTCTTCC 0.622 NA 4 21 1.23904e-05 1.43987e-05 0.000602 1 0 PIR 8544 broad.mit.edu 37 X 15425673 15425673 + Splice_Site SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:15425673C>A uc004cwu.2 - 7 804 c.566_splice c.e7-1 p.G189_splice PIR_uc004cwv.2_Splice_Site_p.G189_splice NM_003662 NP_003653 O00625 PIR_HUMAN pirin transcription from RNA polymerase II promoter cytoplasm|nucleus metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity ovary(1) 1 Hepatocellular(33;0.183) CTTGTCCACCCTGGAAAGGAC 0.358 Ovarian(180;1587 2015 10555 34192 51653) NA 16 187 1.15088e-07 1.44457e-07 0.004007 1 0 ACE2 59272 broad.mit.edu 37 X 15584413 15584413 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:15584413C>T uc004cxa.1 - 16 2245 c.2077G>A c.(2077-2079)GAT>AAT p.D693N ACE2_uc004cxb.2_Missense_Mutation_p.D693N NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 precursor 693 Extracellular (Potential). angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding ovary(3) 3 Hepatocellular(33;0.183) Moexipril(DB00691) GGAATGATATCAGACACATTT 0.363 NA 27 210 0 0 0.004656 0 0 SAT1 6303 broad.mit.edu 37 X 23803931 23803931 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:23803931G>A uc004dau.2 + 6 668 c.474G>A c.(472-474)AAG>AAA p.K158K SAT1_uc004dav.2_RNA NM_002970 NP_002961 P21673 SAT1_HUMAN diamine N-acetyltransferase 1 158 N-acetyltransferase. angiogenesis|polyamine biosynthetic process cytosol diamine N-acetyltransferase activity|protein binding 0 Spermine(DB00127) GACTGTTCAAGATCGACAAGG 0.423 NA 7 75 0 0 0.00308 0 0 SSX7 280658 broad.mit.edu 37 X 52682477 52682477 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:52682477G>C uc004dqx.1 - 2 205 c.46C>G c.(46-48)CAA>GAA p.Q16E NM_173358 NP_775494 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 16 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding skin(1) 1 Ovarian(276;0.236) TCTGGTATTTGAGCACCAGCC 0.567 NA 17 256 0 0 0.012319 0 0 XAGE3 170626 broad.mit.edu 37 X 52893844 52893844 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:52893844C>T uc004dre.2 - 4 333 c.273G>A c.(271-273)AAG>AAA p.K91K XAGE3_uc004drf.2_Silent_p.K91K NM_130776 NP_570132 Q8WTP9 GAGD4_HUMAN XAGE-3 protein 91 0 TTGGCAGAATCTTCCCCTGGT 0.393 NA 7 124 0 0 0.001984 0 0 FGD1 2245 broad.mit.edu 37 X 54482954 54482954 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:54482954G>A uc004dtg.2 - 9 2417 c.1683C>T c.(1681-1683)GCC>GCT p.A561A FGD1_uc011moi.1_Silent_p.A319A NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 561 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 TTTTGCGGATGGCAGCATTCG 0.597 NA 3 30 0 0 0.004672 0 0 TRO 7216 broad.mit.edu 37 X 54949608 54949608 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:54949608G>T uc004dtq.2 + 3 750 c.643G>T c.(643-645)GCC>TCC p.A215S TRO_uc011moj.1_Missense_Mutation_p.A158S|TRO_uc004dts.2_Missense_Mutation_p.A215S|TRO_uc004dtr.2_Missense_Mutation_p.A215S|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 215 embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 TGCAAATAAGGCCATAGCTAG 0.507 NA 4 20 0.00024832 0.000276419 0.009096 1 0 ALAS2 212 broad.mit.edu 37 X 55043989 55043989 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:55043989C>T uc004dua.3 - 7 1071 c.933G>A c.(931-933)AAG>AAA p.K311K ALAS2_uc004dub.3_Silent_p.K298K|ALAS2_uc004dud.3_Silent_p.K274K NM_000032 NP_000023 P22557 HEM0_HUMAN 5-aminolevulinate synthase 2 isoform a 311 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(1) 1 Glycine(DB00145) CTAGAAGTTTCTTTAGGTGGT 0.443 NA 9 158 0 0 0.00245 0 0 TAF1 6872 broad.mit.edu 37 X 70598761 70598761 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:70598761G>A uc004dzu.3 + 8 1288 c.1237G>A c.(1237-1239)GAT>AAT p.D413N BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.D434N NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 413 Protein kinase 1. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) TTGGGAGGATGATATCATCTG 0.478 NA 14 186 0 0 0.003163 0 0 ACRC 93953 broad.mit.edu 37 X 70823695 70823695 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:70823695G>A uc004eae.2 + 8 1069 c.568G>A c.(568-570)GAC>AAC p.D190N BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 190 Asp/Ser-rich. nucleus ovary(3) 3 Renal(35;0.156) GGATGTTCCCGACGACAACAG 0.498 NA 23 233 0 0 0.003954 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649049 75649049 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:75649049G>T uc004ecm.1 + 1 933 c.726G>T c.(724-726)GAG>GAT p.E242D NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 242 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 CCGCCACTGAGGGCCTAAGCA 0.726 NA 3 17 0.004672 0.00496547 0.004672 1 0 P2RY10 27334 broad.mit.edu 37 X 78216425 78216425 + Silent SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:78216425C>G uc004ede.2 + 4 777 c.408C>G c.(406-408)CTC>CTG p.L136L P2RY10_uc004edf.2_Silent_p.L136L NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 136 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 TTTTTCTCCTCAAGCCCTTCA 0.517 NA 15 79 0 0 0.003163 0 0 DACH2 117154 broad.mit.edu 37 X 85906102 85906102 + Missense_Mutation SNP A A T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:85906102A>T uc004eew.2 + 4 874 c.704A>T c.(703-705)AAC>ATC p.N235I DACH2_uc004eex.2_Missense_Mutation_p.N222I|DACH2_uc010nmq.2_Missense_Mutation_p.N101I|DACH2_uc011mra.1_Missense_Mutation_p.N68I|DACH2_uc010nmr.2_Missense_Mutation_p.N16I NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 ATGGCTATGAACACTCTTCAG 0.413 NA 3 30 0 0 0.004672 0 0 GPRASP1 9737 broad.mit.edu 37 X 101910606 101910606 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:101910606C>A uc004ejj.3 + 5 2566 c.1765C>A c.(1765-1767)CAG>AAG p.Q589K GPRASP1_uc004eji.3_Missense_Mutation_p.Q589K|GPRASP1_uc010nod.2_Missense_Mutation_p.Q589K NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 589 Glu-rich. cytoplasm protein binding ovary(1)|lung(1) 2 GGCTGAAAACCAGACCTATAT 0.507 NA 13 116 1.5842e-08 2.04929e-08 0.001855 1 0 VSIG1 340547 broad.mit.edu 37 X 107315990 107315990 + Nonsense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:107315990G>T uc004eno.2 + 4 657 c.496G>T c.(496-498)GGA>TGA p.G166* VSIG1_uc011msk.1_Nonsense_Mutation_p.G202* NM_182607 NP_872413 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 166 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 CTCTGCGCTTGGAACACCTTC 0.473 NA 24 178 2.44723e-14 3.40519e-14 0.004656 1 0 CXorf56 63932 broad.mit.edu 37 X 118678385 118678385 + Silent SNP T T C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:118678385T>C uc004erk.1 - 4 400 c.354A>G c.(352-354)GCA>GCG p.A118A CXorf56_uc004erj.1_Silent_p.A69A|CXorf56_uc011mtu.1_Silent_p.A104A NM_022101 NP_071384 Q9H5V9 CX056_HUMAN hypothetical protein LOC63932 118 protein binding 0 ACTTGACTACTGCTCCATCCA 0.458 NA 13 118 0 0 0.003163 0 0 ODZ1 10178 broad.mit.edu 37 X 123526198 123526198 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:123526198C>A uc004euj.2 - 27 5435 c.5371G>T c.(5371-5373)GCC>TCC p.A1791S ODZ1_uc011muj.1_Missense_Mutation_p.A1797S|ODZ1_uc010nqy.2_Missense_Mutation_p.A1798S NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1791 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CTGTTGTGGGCCTATGAGAAA 0.388 NA 22 115 5.26018e-13 7.24774e-13 0.012319 1 0 ODZ1 10178 broad.mit.edu 37 X 124030091 124030091 + Splice_Site SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:124030091C>T uc004euj.2 - 2 282 c.218_splice c.e2-1 p.E73_splice ODZ1_uc011muj.1_Splice_Site_p.E73_splice|ODZ1_uc010nqy.2_Splice_Site_p.E73_splice NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 AATTCCATCTCTGAGAAGAAA 0.443 NA 16 138 0 0 0.003163 0 0 UTP14A 10813 broad.mit.edu 37 X 129060313 129060313 + Nonsense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:129060313C>T uc004euz.2 + 14 2069 c.2041C>T c.(2041-2043)CAG>TAG p.Q681* UTP14A_uc011mup.1_Nonsense_Mutation_p.Q629*|UTP14A_uc011muq.1_Nonsense_Mutation_p.Q627* NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 681 rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 AGCTGCTCATCAGGTGAGAGC 0.463 NA 7 94 0 0 0.00308 0 0 OR13H1 347468 broad.mit.edu 37 X 130678286 130678286 + Missense_Mutation SNP A A T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:130678286A>T uc011muw.1 + 1 239 c.239A>T c.(238-240)CAG>CTG p.Q80L IGSF1_uc004ewf.2_Intron NM_001004486 NP_001004486 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, 80 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Acute lymphoblastic leukemia(192;0.000636) TCCATGCCCCAGGCTTTGGTG 0.478 NA 13 109 0 0 0.001368 0 0 HPRT1 3251 broad.mit.edu 37 X 133609244 133609244 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:133609244G>T uc004exl.3 + 3 335 c.168G>T c.(166-168)GAG>GAT p.E56D HPRT1_uc010nrs.2_RNA NM_000194 NP_000185 P00492 HPRT_HUMAN hypoxanthine phosphoribosyltransferase 1 56 adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development cytosol guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity 0 Acute lymphoblastic leukemia(192;0.000127) Mercaptopurine(DB01033)|Thioguanine(DB00352) TGATGAAGGAGATGGGAGGCC 0.393 NA 13 91 3.45872e-05 3.96487e-05 0.004007 1 0 SLC9A6 10479 broad.mit.edu 37 X 135098878 135098878 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:135098878G>A uc004ezj.2 + 10 1291 c.1215G>A c.(1213-1215)CAG>CAA p.Q405Q SLC9A6_uc004ezk.2_Silent_p.Q437Q NM_006359 NP_006350 Q92581 SL9A6_HUMAN solute carrier family 9 (sodium/hydrogen 405 Helical; (Potential). regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) TCACCTTCCAGAACCATGTCT 0.333 NA 10 86 0 0 0.008291 0 0 ZIC3 7547 broad.mit.edu 37 X 136649310 136649310 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:136649310C>A uc004fak.2 + 1 965 c.460C>A c.(460-462)CCC>ACC p.P154T NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 154 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) AGCTGGCATCCCCGAGCCCCC 0.716 NA 5 28 0.00116845 0.00127057 0.001168 1 0 FGF13 2258 broad.mit.edu 37 X 137793040 137793040 + Missense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:137793040C>A uc004fam.2 - 1 788 c.126G>T c.(124-126)AAG>AAT p.K42N FGF13_uc004fan.2_Intron|FGF13_uc011mwi.1_Intron|FGF13_uc004faq.2_Intron|FGF13_uc004far.2_Intron|FGF13_uc011mwj.1_Intron|FGF13_uc011mwk.1_Intron|uc004fao.2_5'Flank NM_004114 NP_004105 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 1 42 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) AGACATTTAACTTGTTTTTGT 0.522 NA 14 141 3.27435e-08 4.15931e-08 0.00245 1 0 FMR1NB 158521 broad.mit.edu 37 X 147063058 147063058 + Missense_Mutation SNP G G C rs149919226 TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:147063058G>C uc004fcm.2 + 1 210 c.136G>C c.(136-138)GAG>CAG p.E46Q NM_152578 NP_689791 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 46 Cytoplasmic (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TCCTGGATACGAGGCCGCCAT 0.562 NA 4 46 0 0 0.009096 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935329 151935329 + Nonsense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:151935329C>A uc004fgp.2 - 3 1047 c.838G>T c.(838-840)GAA>TAA p.E280* NM_005362 NP_005353 P43357 MAGA3_HUMAN melanoma antigen family A, 3 280 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) TAGCTGGTTTCAACGAGGGCC 0.532 NA 24 158 1.96895e-08 2.52383e-08 0.00278 1 0 GDI1 2664 broad.mit.edu 37 X 153668831 153668831 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:153668831G>C uc004fli.3 + 6 1039 c.697G>C c.(697-699)GAG>CAG p.E233Q GDI1_uc011mzo.1_3'UTR|GDI1_uc004flj.2_5'Flank NM_001493 NP_001484 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 233 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding 0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGGCTTGGGCGAGCTGCCCCA 0.562 NA 8 84 0 0 0.006214 0 0 PLXNA3 55558 broad.mit.edu 37 X 153689814 153689814 + Missense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chrX:153689814G>C uc004flm.2 + 3 1143 c.970G>C c.(970-972)GGC>CGC p.G324R NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 324 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTTCTCTCAGGGCCAGAAGAA 0.657 NA 8 126 0 0 0.00308 0 0 DFFA 1676 broad.mit.edu 37 1 10527291 10527291 + Frame_Shift_Del DEL C C - TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:10527291delC uc001arj.2 - 3 495 c.397delG c.(397-399)GAAfs p.E133fs DFFA_uc001ark.2_Frame_Shift_Del_p.E133fs NM_004401 NP_004392 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha 133 DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding 0 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) GACAGATCTTCTTTCAGCTGC 0.537 NA 12 185 --- --- --- --- NA NA NA NA NA SELENBP1 8991 broad.mit.edu 37 1 151337134 151337136 + In_Frame_Del DEL CCT CCT - TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 CCT CCT - - CCT CCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:151337134_151337136delCCT uc001exx.2 - 12 1349_1351 c.1302_1304delAGG c.(1300-1305)GGAGGG>GGG p.434_435GG>G SELENBP1_uc010pcy.1_In_Frame_Del_p.476_477GG>G|SELENBP1_uc001exy.2_In_Frame_Del_p.331_332GG>G|SELENBP1_uc001exz.2_In_Frame_Del_p.331_332GG>G|SELENBP1_uc010pcz.1_In_Frame_Del_p.372_373GG>G|SELENBP1_uc009wms.2_In_Frame_Del_p.270_271GG>G|SELENBP1_uc009wmt.2_In_Frame_Del_p.331_332GG>G|SELENBP1_uc001eya.2_In_Frame_Del_p.370_371GG>G|SELENBP1_uc009wmu.2_3'UTR NM_003944 NP_003935 Q13228 SBP1_HUMAN selenium binding protein 1 434_435 protein transport cytosol|membrane|nucleolus protein binding|selenium binding 0 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CAACTTCAGCCCTCCTTTTACTG 0.591 NA 13 161 --- --- --- --- NA NA NA NA NA RYR2 6262 broad.mit.edu 37 1 237777945 237777945 + Frame_Shift_Del DEL G G - TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr1:237777945delG uc001hyl.1 + 37 5637 c.5517delG c.(5515-5517)TTGfs p.L1839fs NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1839 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACGAGGACTTGAAGCACATCT 0.507 NA 8 157 --- --- --- --- NA NA NA NA NA CHD2 1106 broad.mit.edu 37 15 93540598 93540600 + In_Frame_Del DEL ATT ATT - TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 ATT ATT - - ATT ATT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr15:93540598_93540600delATT uc002bsp.2 + 30 4425_4427 c.3850_3852delATT c.(3850-3852)ATTdel p.I1284del CHD2_uc002bso.1_In_Frame_Del_p.I1284del NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1284 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CTGGGAGTTAATTAAAACAGACC 0.384 NA 8 110 --- --- --- --- NA NA NA NA NA NOTCH3 4854 broad.mit.edu 37 19 15290919 15290919 + Frame_Shift_Del DEL C C - TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:15290919delC uc002nan.2 - 20 3367 c.3291delG c.(3289-3291)GGGfs p.G1097fs NOTCH3_uc002nao.1_Frame_Shift_Del_p.G1045fs NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 1097 Extracellular (Potential).|EGF-like 28. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CACGGCAGGTCCCCCCATGCT 0.652 NA 13 58 --- --- --- --- NA NA NA NA NA C5AR1 728 broad.mit.edu 37 19 47823845 47823847 + In_Frame_Del DEL TCG TCG - TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 TCG TCG - - TCG TCG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr19:47823845_47823847delTCG uc002pgj.1 + 2 860_862 c.811_813delTCG c.(811-813)TCGdel p.S272del NM_001736 NP_001727 P21730 C5AR_HUMAN complement component 5 receptor 1 272 Extracellular (Potential). activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) CCTGGAGCCATCGTCACCCACCT 0.557 NA 10 83 --- --- --- --- NA NA NA NA NA ELMOD2 255520 broad.mit.edu 37 4 141464740 141464752 + Splice_Site DEL TGTGAGTATTAAA TGTGAGTATTAAA - TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 TGTGAGTATTAAA TGTGAGTATTAAA - - TGTGAGTATTAAA TGTGAGTATTAAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b11151cf-6976-4812-a77e-1a12f9d1245c 063c2c69-0159-47e9-8b64-06ce8883a64c g.chr4:141464740_141464752delTGTGAGTATTAAA uc003iik.2 + 8 828 c.736_splice c.e8+1 p.C246_splice NM_153702 NP_714913 Q8IZ81 ELMD2_HUMAN ELMO/CED-12 domain containing 2 phagocytosis|regulation of defense response to virus|response to virus cytoskeleton GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) TCAGTTTTACTGTGAGTATTAAAATGAGTTAAA 0.3 NA 9 41 --- --- --- --- NA NA NA NA NA