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 CHD5 26038 broad.mit.edu 37 1 6206324 6206324 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:6206324G>A uc001amb.1 - 11 1850 c.1750C>T c.(1750-1752)CGC>TGC p.R584C CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 584 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) ATGCCATAGCGGTAGAAGCGC 0.607 NA 17 42 0 0 0.010504 0 0 PER3 8863 broad.mit.edu 37 1 7880542 7880542 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:7880542C>T uc001aoo.2 + 15 1950 c.1775C>T c.(1774-1776)CCA>CTA p.P592L PER3_uc009vmg.1_Missense_Mutation_p.P600L|PER3_uc009vmh.1_Missense_Mutation_p.P593L|PER3_uc001aop.2_Missense_Mutation_p.P600L|PER3_uc010nzw.1_Missense_Mutation_p.P281L NM_016831 NP_058515 P56645 PER3_HUMAN period 3 592 CSNK1E binding domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TTGCAAATCCCAGCCATACCT 0.458 NA 5 14 0 0 0.000602 0 0 EPS15 2060 broad.mit.edu 37 1 51829575 51829575 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:51829575C>G uc001csq.1 - 23 2414 c.2322G>C c.(2320-2322)AAG>AAC p.K774N EPS15_uc009vyz.1_Missense_Mutation_p.K640N|EPS15_uc001csp.3_Missense_Mutation_p.K460N NM_001981 NP_001972 P42566 EPS15_HUMAN epidermal growth factor receptor pathway 774 15 X 3 AA repeats of D-P-F.|Pro-rich.|SH3-binding. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding lung(1)|kidney(1) 2 GAGTTCCGATCTTTGGTGGCA 0.448 NA T MLL ALL 6 53 0 0 0.004482 0 0 DAB1 1600 broad.mit.edu 37 1 57537266 57537266 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:57537266C>T uc001cys.1 - 8 1161 c.487G>A c.(487-489)GAA>AAA p.E163K DAB1_uc001cyt.1_Missense_Mutation_p.E163K|DAB1_uc001cyq.1_Missense_Mutation_p.E163K|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Missense_Mutation_p.E163K|DAB1_uc009vzx.1_Missense_Mutation_p.E163K NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 163 PID. cell differentiation|nervous system development skin(2)|ovary(1) 3 TGCTTCAATTCATAAATGAGT 0.413 NA 5 17 0 0 0.000602 0 0 LRRC7 57554 broad.mit.edu 37 1 70493864 70493864 + Missense_Mutation SNP A A G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:70493864A>G uc001dep.2 + 16 1721 c.1691A>G c.(1690-1692)AAC>AGC p.N564S LRRC7_uc009wbg.2_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 564 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GTTGAAATAAACCTAAAACGA 0.328 NA 3 40 0 0 0.004672 0 0 LRRC7 57554 broad.mit.edu 37 1 70505431 70505431 + Nonsense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:70505431G>A uc001dep.2 + 19 3840 c.3810G>A c.(3808-3810)TGG>TGA p.W1270* LRRC7_uc009wbg.2_Nonsense_Mutation_p.W554*|LRRC7_uc001deq.2_Nonsense_Mutation_p.W511* NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1270 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CTGCAGACTGGAGACAACAGC 0.448 NA 9 74 0 0 0.010729 0 0 C1orf173 127254 broad.mit.edu 37 1 75036931 75036931 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:75036931G>T uc001dgg.2 - 14 4682 c.4463C>A c.(4462-4464)CCG>CAG p.P1488Q NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1488 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TAGACTCTCCGGACTCAATTC 0.537 NA 26 86 5.77227e-19 7.65263e-19 0.008361 1 0 PTGFR 5737 broad.mit.edu 37 1 78959092 78959092 + Missense_Mutation SNP A A G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:78959092A>G uc001din.2 + 2 930 c.664A>G c.(664-666)ATC>GTC p.I222V PTGFR_uc001dim.2_Missense_Mutation_p.I222V NM_000959 NP_000950 P43088 PF2R_HUMAN prostaglandin F receptor isoform a precursor 222 Helical; Name=5; (Potential). parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity ovary(3)|breast(2)|skin(1) 6 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) GTGCAATGCAATCACAGGAAT 0.383 NA 9 16 0 0 0.004482 0 0 CLCA4 22802 broad.mit.edu 37 1 87031096 87031096 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:87031096G>A uc009wcs.2 + 5 741 c.697G>A c.(697-699)GAA>AAA p.E233K CLCA4_uc009wct.2_5'UTR|CLCA4_uc009wcu.2_Missense_Mutation_p.E53K NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 233 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity ovary(2) 2 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) AGTACAAACAGAAAAAGCATC 0.318 NA 4 60 0 0 0.000602 0 0 LRRC8C 84230 broad.mit.edu 37 1 90179620 90179620 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:90179620C>T uc001dnl.3 + 3 1733 c.1491C>T c.(1489-1491)AGC>AGT p.S497S NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member 497 LRR 5. endoplasmic reticulum membrane|integral to membrane ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) AGGTCTTGAGCGTCAAGTTTG 0.488 NA 5 17 0 0 0.001984 0 0 CCDC18 343099 broad.mit.edu 37 1 93687224 93687224 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:93687224C>T uc001dpq.2 + 15 2543 c.2375C>T c.(2374-2376)TCC>TTC p.S792F CCDC18_uc009wdl.1_Missense_Mutation_p.S309F NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 673 Potential. ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) AAGACTATGTCCATGTTGCAA 0.303 NA 23 66 0 0 0.005443 0 0 LPPR4 9890 broad.mit.edu 37 1 99771530 99771530 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:99771530G>A uc001dse.2 + 7 1362 c.1256G>A c.(1255-1257)CGA>CAA p.R419Q LPPR4_uc010oue.1_Missense_Mutation_p.R361Q NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 419 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) ACCTTGCCGCGAGCCAATACC 0.498 NA 5 45 0 0 0.000602 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110033961 110033961 + Silent SNP A A G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:110033961A>G uc001dxr.2 + 10 1791 c.1776A>G c.(1774-1776)AAA>AAG p.K592K ATXN7L2_uc001dxs.2_Silent_p.K219K|ATXN7L2_uc001dxt.2_Silent_p.K95K|CYB561D1_uc010ovl.1_5'Flank|CYB561D1_uc010ovm.1_5'Flank|CYB561D1_uc001dxu.2_5'Flank|CYB561D1_uc001dxw.2_5'Flank|CYB561D1_uc010ovn.1_5'Flank|CYB561D1_uc010ovo.1_5'Flank|CYB561D1_uc009wfd.2_5'Flank|CYB561D1_uc010ovp.1_5'Flank NM_153340 NP_699171 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 592 ovary(2) 2 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) CCACTGGAAAAGGGAAACCCT 0.597 NA 3 60 0 0 0.009096 0 0 PDIA3P 171423 broad.mit.edu 37 1 146650815 146650815 + Missense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:146650815G>C uc001epg.1 + 1 1386 c.1123G>C c.(1123-1125)GAT>CAT p.D375H NR_002305 SubName: Full=cDNA FLJ53558, highly similar to Protein disulfide-isomerase A3 (EC 5.3.4.1); 0 AGAGAGCAATGATGGGCCTGT 0.428 NA 6 56 0 0 0.004482 0 0 GJA8 2703 broad.mit.edu 37 1 147380681 147380681 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:147380681C>A uc001epu.1 + 2 662 c.599C>A c.(598-600)ACG>AAG p.T200K NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 200 Extracellular (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) TCCCGGCCCACGGAGAAAACC 0.607 Melanoma(76;1255 1795 8195 52096) NA 16 70 1.15088e-07 1.33823e-07 0.004007 1 0 SV2A 9900 broad.mit.edu 37 1 149884960 149884960 + Nonsense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:149884960G>A uc001etg.2 - 2 924 c.433C>T c.(433-435)CGA>TGA p.R145* SV2A_uc001eth.2_Nonsense_Mutation_p.R145* NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 145 Cytoplasmic (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) AGTTCTTCTCGTTCTTTCCGT 0.637 NA 3 40 0 0 0.009096 0 0 LENEP 55891 broad.mit.edu 37 1 154966094 154966094 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:154966094G>A uc001fgi.2 + 1 33 c.11G>A c.(10-12)CGG>CAG p.R4Q NM_018655 NP_061125 Q9Y5L5 LENEP_HUMAN lens epithelial protein 4 multicellular organismal development DNA binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) ATGCAGCCCCGGACACAGCCC 0.612 NA 3 158 0 0 0.009096 0 0 UBQLN4 56893 broad.mit.edu 37 1 156020194 156020194 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:156020194G>A uc001fna.2 - 4 653 c.629C>T c.(628-630)TCT>TTT p.S210F UBQLN4_uc010pgx.1_Missense_Mutation_p.S190F NM_020131 NP_064516 Q9NRR5 UBQL4_HUMAN ataxin-1 ubiquitin-like interacting protein 210 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding pancreas(1)|skin(1) 2 Hepatocellular(266;0.133)|all_neural(408;0.195) ATCAGGGTTAGACATCATATC 0.522 NA 5 231 0 0 0.001168 0 0 OR10K1 391109 broad.mit.edu 37 1 158435910 158435910 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:158435910C>A uc010pij.1 + 1 559 c.559C>A c.(559-561)CTG>ATG p.L187M NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TGTCCTTAAACTGGCATCTCA 0.507 NA 105 130 8.83409e-43 1.1892e-42 0.01441 1 0 LRRC52 440699 broad.mit.edu 37 1 165514004 165514004 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:165514004C>T uc001gde.2 + 1 527 c.471C>T c.(469-471)CTC>CTT p.L157L LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 precursor 157 Extracellular (Potential).|LRR 5. integral to membrane ovary(1) 1 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) ACCTGGACCTCAGAAATACCG 0.522 NA 12 118 0 0 0.003163 0 0 NPL 80896 broad.mit.edu 37 1 182787814 182787814 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:182787814G>T uc009wyb.2 + 9 736 c.596G>T c.(595-597)GGG>GTG p.G199V NPL_uc010pnx.1_Missense_Mutation_p.G180V|NPL_uc010pny.1_Intron|NPL_uc001gpo.1_Missense_Mutation_p.G180V|NPL_uc009wyc.2_Missense_Mutation_p.G199V|NPL_uc001gpp.3_Missense_Mutation_p.G199V|NPL_uc001gpq.1_Missense_Mutation_p.G199V NM_030769 NP_110396 Q9BXD5 NPL_HUMAN N-acetylneuraminate pyruvate lyase 199 carbohydrate metabolic process cytoplasm N-acetylneuraminate lyase activity ovary(1)|central_nervous_system(1)|skin(1) 3 TTCCTTTTTGGGGTGGATGAG 0.448 NA 11 29 0.00010058 0.000110009 0.013537 1 0 DHX9 1660 broad.mit.edu 37 1 182827742 182827742 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:182827742C>G uc001gpr.2 + 9 1030 c.867C>G c.(865-867)ATC>ATG p.I289M DHX9_uc001gps.2_Missense_Mutation_p.I75M NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 289 Interaction with BRCA1. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 TGCAAAACATCATTCAAGAGC 0.373 Colon(69;210 1162 3697 13559 39565) NA 6 43 0 0 0.001984 0 0 HMCN1 83872 broad.mit.edu 37 1 186147872 186147872 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:186147872C>T uc001grq.1 + 104 16497 c.16268C>T c.(16267-16269)TCT>TTT p.S5423F HMCN1_uc001grs.1_Intron NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5423 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CCTGAAGGCTCTGAGGCAAGC 0.443 NA 4 70 0 0 0.009096 0 0 LGR6 59352 broad.mit.edu 37 1 202287921 202287921 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:202287921C>T uc001gxu.2 + 18 2490 c.2490C>T c.(2488-2490)TTC>TTT p.F830F LGR6_uc001gxv.2_Silent_p.F778F|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.F691F NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 830 Helical; Name=7; (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 ACCTGCTCTTCAACCCCCACT 0.677 NA 25 225 0 0 0.013726 0 0 PLXNA2 5362 broad.mit.edu 37 1 208224761 208224761 + Missense_Mutation SNP T T C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:208224761T>C uc001hgz.2 - 16 3759 c.3001A>G c.(3001-3003)ATG>GTG p.M1001V NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 1001 Extracellular (Potential).|IPT/TIG 2. axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) ATCTCACTCATTGACCTCCTG 0.572 NA 4 29 0 0 0.000602 0 0 USH2A 7399 broad.mit.edu 37 1 216370038 216370038 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:216370038C>T uc001hku.1 - 19 4495 c.4108G>A c.(4108-4110)GTC>ATC p.V1370I USH2A_uc001hkv.2_Missense_Mutation_p.V1370I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1370 Extracellular (Potential).|Fibronectin type-III 4. 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) AGGGGAAAGACTGAAGGAGGG 0.368 NA HNSCC(13;0.011) 10 21 0 0 0.013537 0 0 OBSCN 84033 broad.mit.edu 37 1 228401921 228401921 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:228401921C>T uc009xez.1 + 4 1349 c.1305C>T c.(1303-1305)GGC>GGT p.G435G OBSCN_uc001hsn.2_Silent_p.G435G|uc001hsm.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 435 Ig-like 5. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) TGCGCGTGGGCGACACGGCTA 0.711 NA 11 119 0 0 0.010729 0 0 FAM89A 375061 broad.mit.edu 37 1 231155691 231155691 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:231155691C>T uc001hui.2 - 2 511 c.473G>A c.(472-474)AGG>AAG p.R158K FAM89A_uc009xfm.2_Missense_Mutation_p.R169K|MIR1182_hsa-mir-1182|MI0006275_5'Flank NM_198552 NP_940954 Q96GI7 FA89A_HUMAN family with sequence similarity 89, member A 158 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) TCGGTCCCTCCTGTCGTGCAG 0.592 NA 17 48 0 0 0.00499 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232650057 232650057 + Missense_Mutation SNP T T A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:232650057T>A uc001hvg.2 - 1 1187 c.1029A>T c.(1027-1029)GAA>GAT p.E343D NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 343 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TAGCCATGGCTTCGTTGATAT 0.507 NA 7 66 0 0 0.004482 0 0 RYR2 6262 broad.mit.edu 37 1 237777588 237777588 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:237777588G>A uc001hyl.1 + 37 5280 c.5160G>A c.(5158-5160)ATG>ATA p.M1720I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1720 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) CCAGGCTCATGATGAACAACG 0.522 NA 7 35 0 0 0.001984 0 0 OR2C3 81472 broad.mit.edu 37 1 247695307 247695307 + Silent SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:247695307C>A uc009xgy.2 - 2 869 c.507G>T c.(505-507)CTG>CTT p.L169L C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TGTTCCCACACAGCGGTAGGA 0.552 NA 8 16 0.00307968 0.00321758 0.00308 1 0 OR2G3 81469 broad.mit.edu 37 1 247769700 247769700 + Silent SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:247769700G>A uc010pyz.1 + 1 813 c.813G>A c.(811-813)GGG>GGA p.G271G NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 271 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AGGACCAAGGGAAGTTTATCT 0.453 NA 19 21 0 0 0.008871 0 0 OR1C1 26188 broad.mit.edu 37 1 247921358 247921358 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:247921358C>T uc010pza.1 - 1 351 c.351G>A c.(349-351)GTG>GTA p.V117V NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CATACGCCATCACACACAGAA 0.488 NA 7 51 0 0 0.001984 0 0 OR2T6 254879 broad.mit.edu 37 1 248551522 248551522 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr1:248551522G>T uc001iei.1 + 1 613 c.613G>T c.(613-615)GCA>TCA p.A205S NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 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) GTGCTGCGTTGCAATGCTGCT 0.512 NA 38 58 3.61848e-18 4.74332e-18 0.007835 1 0 NET1 10276 broad.mit.edu 37 10 5468684 5468685 + Splice_Site DNP GG GG TT TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr10:5468684_5468685GG>TT uc001iia.2 + 2 333 c.195_splice c.e2+1 p.L65_splice NET1_uc010qar.1_Splice_Site NM_001047160 NP_001040625 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming gene 1 isoform apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(1) 1 ACTTCACTTTGGTGAGTAGATA 0.406 NA 13 31 0 0 0.004672 0 0 PRPF18 8559 broad.mit.edu 37 10 13672265 13672265 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr10:13672265G>T uc001imp.2 + 10 1102 c.954G>T c.(952-954)TTG>TTT p.L318F PRPF18_uc001imq.2_Intron NM_003675 NP_003666 Q99633 PRP18_HUMAN PRP18 pre-mRNA processing factor 18 homolog 318 mRNA processing|RNA splicing nuclear speck|spliceosomal complex central_nervous_system(1) 1 CTTAGGGATTGAAGAGGTTAA 0.264 NA 23 54 6.32553e-13 7.99255e-13 0.004656 1 0 GPR158 57512 broad.mit.edu 37 10 25885719 25885719 + Splice_Site SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr10:25885719G>A uc001isj.2 + 10 2205 c.2145_splice c.e10+1 p.R715_splice GPR158_uc001isk.2_Splice_Site_p.R90_splice NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GGACATTCGGGTAATGCCAGT 0.483 NA 12 66 0 0 0.00245 0 0 ANKRD26 22852 broad.mit.edu 37 10 27368065 27368065 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr10:27368065C>T uc001ith.2 - 7 938 c.766G>A c.(766-768)GAT>AAT p.D256N ANKRD26_uc001itg.2_5'UTR|ANKRD26_uc009xku.1_Missense_Mutation_p.D256N NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 256 centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 GGCCATGAATCATCAACACCC 0.333 NA 15 47 0 0 0.010504 0 0 PCDH15 65217 broad.mit.edu 37 10 55700715 55700715 + Missense_Mutation SNP A A G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr10:55700715A>G uc001jju.1 - 24 3538 c.3143T>C c.(3142-3144)CTT>CCT p.L1048P PCDH15_uc010qhq.1_Missense_Mutation_p.L1053P|PCDH15_uc010qhr.1_Missense_Mutation_p.L1048P|PCDH15_uc010qhs.1_Missense_Mutation_p.L1060P|PCDH15_uc010qht.1_Missense_Mutation_p.L1055P|PCDH15_uc010qhu.1_Missense_Mutation_p.L1048P|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.L1048P|PCDH15_uc010qhw.1_Missense_Mutation_p.L1011P|PCDH15_uc010qhx.1_Missense_Mutation_p.L977P|PCDH15_uc010qhy.1_Missense_Mutation_p.L1053P|PCDH15_uc010qhz.1_Missense_Mutation_p.L1048P|PCDH15_uc010qia.1_Missense_Mutation_p.L1026P|PCDH15_uc010qib.1_Missense_Mutation_p.L1026P NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1048 Cadherin 10.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TTTGGTGGCAAGTTCACTTAC 0.308 NA HNSCC(58;0.16) 15 22 0 0 0.00499 0 0 PCDH15 65217 broad.mit.edu 37 10 55892662 55892662 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr10:55892662C>A uc001jju.1 - 15 2285 c.1890G>T c.(1888-1890)AGG>AGT p.R630S PCDH15_uc010qhq.1_Missense_Mutation_p.R635S|PCDH15_uc010qhr.1_Missense_Mutation_p.R630S|PCDH15_uc010qhs.1_Missense_Mutation_p.R642S|PCDH15_uc010qht.1_Missense_Mutation_p.R637S|PCDH15_uc010qhu.1_Missense_Mutation_p.R630S|PCDH15_uc001jjv.1_Missense_Mutation_p.R608S|PCDH15_uc010qhv.1_Missense_Mutation_p.R630S|PCDH15_uc010qhw.1_Missense_Mutation_p.R593S|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhy.1_Missense_Mutation_p.R635S|PCDH15_uc010qhz.1_Missense_Mutation_p.R630S|PCDH15_uc010qia.1_Missense_Mutation_p.R608S|PCDH15_uc010qib.1_Missense_Mutation_p.R608S|PCDH15_uc001jjw.2_Missense_Mutation_p.R630S NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 630 Cadherin 6.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CAGCACCAACCCTCATGGCTT 0.353 NA HNSCC(58;0.16) 12 14 7.03913e-09 8.29527e-09 0.013537 1 0 EGR2 1959 broad.mit.edu 37 10 64573782 64573782 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr10:64573782G>A uc010qim.1 - 3 770 c.616C>T c.(616-618)CCT>TCT p.P206S EGR2_uc010qin.1_Missense_Mutation_p.P156S|EGR2_uc001jmi.2_Missense_Mutation_p.P206S|EGR2_uc010qio.1_Missense_Mutation_p.P219S|EGR2_uc009xph.2_Missense_Mutation_p.P206S NM_001136177 NP_001129649 P11161 EGR2_HUMAN early growth response 2 protein isoform a 206 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) GGATAGGAAGGAGGTGGTGGG 0.572 NA 17 69 0 0 0.012319 0 0 MYPN 84665 broad.mit.edu 37 10 69961617 69961617 + Silent SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr10:69961617G>T uc001jnm.3 + 19 3710 c.3525G>T c.(3523-3525)CTG>CTT p.L1175L MYPN_uc001jnn.3_Silent_p.L900L|MYPN_uc001jno.3_Silent_p.L1175L|MYPN_uc009xpt.2_Silent_p.L1175L|MYPN_uc010qit.1_Silent_p.L881L|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 1175 Interaction with ACTN.|Ig-like 5. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 CTGTGATCCTGGAGAAACTAC 0.413 NA 16 43 5.35267e-07 6.18295e-07 0.007413 1 0 PBLD 64081 broad.mit.edu 37 10 70056701 70056701 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr10:70056701C>T uc001jns.1 - 3 329 c.126G>A c.(124-126)ATG>ATA p.M42I PBLD_uc001jnr.1_Missense_Mutation_p.M9I|PBLD_uc001jnt.1_Missense_Mutation_p.M42I|PBLD_uc001jnu.1_Missense_Mutation_p.M42I|PBLD_uc001jnv.1_Missense_Mutation_p.M42I NM_022129 NP_071412 P30039 PBLD_HUMAN MAWD binding protein isoform a 42 biosynthetic process isomerase activity skin(2)|ovary(1) 3 CAGAGAGGTTCATCTCCCTTG 0.328 NA 26 65 0 0 0.012213 0 0 HK1 3098 broad.mit.edu 37 10 71144669 71144669 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr10:71144669G>A uc001jpl.3 + 12 1938 c.1837G>A c.(1837-1839)GCG>ACG p.A613T HK1_uc001jpg.3_Missense_Mutation_p.A601T|HK1_uc001jph.3_Missense_Mutation_p.A617T|HK1_uc001jpi.3_Missense_Mutation_p.A617T|HK1_uc001jpj.3_Missense_Mutation_p.A648T|HK1_uc001jpk.3_Missense_Mutation_p.A612T|HK1_uc009xqd.2_Missense_Mutation_p.A491T NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 613 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 GAGTCTGGACGCGGTGAGTCT 0.592 NA 4 75 0 0 0.009096 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98412587 98412587 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr10:98412587C>A uc001kmq.2 - 4 708 c.580G>T c.(580-582)GTC>TTC p.V194F PIK3AP1_uc001kmp.2_Missense_Mutation_p.V16F NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 194 DBB. cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) ATAACATAGACAGTGGTTTCT 0.547 NA 27 68 3.1745e-13 4.02563e-13 0.008361 1 0 ENTPD7 57089 broad.mit.edu 37 10 101458401 101458401 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr10:101458401G>A uc001kqa.3 + 10 1299 c.1121G>A c.(1120-1122)CGA>CAA p.R374Q ENTPD7_uc009xwl.2_Missense_Mutation_p.R376Q NM_020354 NP_065087 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 374 Vesicular (Potential). cytoplasmic vesicle membrane|integral to membrane hydrolase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) TTACATGTCCGAGGAAGAGGA 0.562 NA 11 41 0 0 0.010729 0 0 PDCD11 22984 broad.mit.edu 37 10 105194595 105194595 + Silent SNP A A T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr10:105194595A>T uc001kwy.1 + 25 3795 c.3708A>T c.(3706-3708)CGA>CGT p.R1236R NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1236 S1 motif 11. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CCATGGGCCGAGTGGTGAAGG 0.537 NA 4 23 0 0 0.000602 0 0 ATRNL1 26033 broad.mit.edu 37 10 116919926 116919926 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr10:116919926G>T uc001lcg.2 + 6 1341 c.955G>T c.(955-957)GTG>TTG p.V319L ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Missense_Mutation_p.V319L|ATRNL1_uc009xyq.2_Missense_Mutation_p.V319L NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 319 Extracellular (Potential).|Kelch 1. integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) ATTTATGTGGGTGATTGGTGG 0.368 NA 19 67 1.40151e-16 1.81677e-16 0.010504 1 0 BUB3 9184 broad.mit.edu 37 10 124914503 124914503 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr10:124914503C>T uc001lhe.2 + 2 312 c.70C>T c.(70-72)CCC>TCC p.P24S BUB3_uc009yah.2_5'UTR|BUB3_uc001lhf.3_Missense_Mutation_p.P24S|BUB3_uc001lhd.2_Missense_Mutation_p.P24S|BUB3_uc010qud.1_Intron NM_004725 NP_004716 O43684 BUB3_HUMAN budding uninhibited by benzimidazoles 3 isoform 24 WD 1. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle condensed chromosome kinetochore|cytosol|nucleus protein binding ovary(1) 1 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) GAAGTTCAGCCCCAACACCTC 0.612 GBM(161;1111 1985 17553 20049 26037) NA 26 108 0 0 0.00632 0 0 MKI67 4288 broad.mit.edu 37 10 129902974 129902974 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr10:129902974C>T uc001lke.2 - 13 7325 c.7130G>A c.(7129-7131)AGG>AAG p.R2377K MKI67_uc001lkf.2_Missense_Mutation_p.R2017K|MKI67_uc009yav.1_Missense_Mutation_p.R1952K|MKI67_uc009yaw.1_Missense_Mutation_p.R1527K NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2377 16 X 122 AA approximate repeats.|12. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGTTCGTTTCCTGAGTGCTAA 0.473 NA 58 166 0 0 0.01441 0 0 ABCC8 6833 broad.mit.edu 37 11 17464292 17464292 + Silent SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:17464292G>C uc001mnc.2 - 10 1731 c.1605C>G c.(1603-1605)GCC>GCG p.A535A ABCC8_uc010rcy.1_Silent_p.A534A NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 535 Cytoplasmic (By similarity).|ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGATGGCAAAGGCCCTGAGGC 0.607 NA 4 44 0 0 0.009096 0 0 IGSF22 283284 broad.mit.edu 37 11 18731128 18731128 + Missense_Mutation SNP T T C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:18731128T>C uc009yht.2 - 18 2994 c.2804A>G c.(2803-2805)TAC>TGC p.Y935C IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 834 Fibronectin type-III 2. ovary(4)|large_intestine(2)|kidney(1) 7 CTCAAGGATGTAGCCAGAGGG 0.587 NA 3 34 0 0 0.004672 0 0 Unknown 0 broad.mit.edu 37 11 30974034 30974034 + Silent SNP A A T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:30974034A>T uc009yjk.1 - 9 1086 c.1017T>A c.(1015-1017)CTT>CTA p.L339L uc009yjl.1_Intron|DCDC1_uc001msu.1_Silent_p.L510L RecName: Full=Doublecortin domain-containing protein 5; NA ACATGTAGGTAAGCTTGTTCC 0.423 NA 5 16 0 0 0.001168 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136708 40136708 + Missense_Mutation SNP T T A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:40136708T>A uc001mxa.1 - 2 3099 c.1135A>T c.(1135-1137)ACA>TCA p.T379S LRRC4C_uc001mxc.1_Missense_Mutation_p.T375S|LRRC4C_uc001mxd.1_Missense_Mutation_p.T375S|LRRC4C_uc001mxb.1_Missense_Mutation_p.T375S NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 379 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) GTCAGGGATGTGGAGGCCCGA 0.502 NA 17 62 0 0 0.00499 0 0 OR4A16 81327 broad.mit.edu 37 11 55110797 55110797 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:55110797C>A uc010rie.1 + 1 121 c.121C>A c.(121-123)CTC>ATC p.L41I NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 41 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 GGTGGGAAACCTCCTCATTTG 0.428 NA 13 58 1.5739e-10 1.893e-10 0.004007 1 0 OR5F1 338674 broad.mit.edu 37 11 55761300 55761300 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:55761300G>T uc010riv.1 - 1 802 c.802C>A c.(802-804)CTG>ATG p.L268M NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 268 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) TCCTGATTCAGGGAGTAGCTG 0.473 NA 20 46 5.35356e-11 6.46119e-11 0.00278 1 0 ESRRA 2101 broad.mit.edu 37 11 64074874 64074874 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:64074874C>T uc001nzq.1 + 2 400 c.223C>T c.(223-225)CCC>TCC p.P75S ESRRA_uc001nzr.1_Missense_Mutation_p.P75S|ESRRA_uc001nzs.1_Missense_Mutation_p.P75S NM_004451 NP_004442 P11474 ERR1_HUMAN estrogen-related receptor alpha 75 Repressor domain. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 CAGCTCCCTGCCCAAGCGCCT 0.657 NA 2 17 0 0 0.009096 0 0 CDCA5 113130 broad.mit.edu 37 11 64850855 64850855 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:64850855G>A uc001ocp.2 - 4 389 c.224C>T c.(223-225)TCA>TTA p.S75L ZFPL1_uc009yqa.2_5'Flank|ZFPL1_uc001ocq.1_5'Flank|ZFPL1_uc010rnx.1_5'Flank NM_080668 NP_542399 Q96FF9 CDCA5_HUMAN cell division cycle associated 5 75 cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin cytoplasm|nuclear chromatin|plasma membrane chromatin binding|identical protein binding 0 CCTGCGAGGTGATTGGACAGC 0.507 NA 4 45 0 0 0.009096 0 0 POLA2 23649 broad.mit.edu 37 11 65055233 65055233 + Silent SNP A A T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:65055233A>T uc001odj.2 + 11 1395 c.1053A>T c.(1051-1053)ACA>ACT p.T351T POLA2_uc010rod.1_Silent_p.T143T|POLA2_uc001odk.2_Silent_p.T48T NM_002689 NP_002680 Q14181 DPOA2_HUMAN DNA-directed DNA polymerase alpha 2 351 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding 0 Dacarbazine(DB00851) CATACACCACATCTGACAGCA 0.493 NA 6 50 0 0 0.00308 0 0 CCDC87 55231 broad.mit.edu 37 11 66358060 66358060 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:66358060C>T uc001oiq.3 - 1 2495 c.2427G>A c.(2425-2427)ATG>ATA p.M809I CCS_uc001oir.2_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 809 ovary(1)|skin(1) 2 TGTCACTCTTCATCTTGTCCA 0.537 NA 5 249 0 0 0.001168 0 0 INTS4 92105 broad.mit.edu 37 11 77705651 77705651 + Missense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:77705651G>C uc001oys.2 - 1 67 c.39C>G c.(37-39)TTC>TTG p.F13L INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Missense_Mutation_p.F13L|INTS4_uc001oyv.1_RNA NM_033547 NP_291025 Q96HW7 INT4_HUMAN integrator complex subunit 4 13 snRNA processing integrator complex protein binding ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) CCACTTTCGTGAATTCCTCAT 0.582 NA 12 86 0 0 0.00245 0 0 NOX4 50507 broad.mit.edu 37 11 89088169 89088169 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:89088169G>T uc001pct.2 - 13 1417 c.1178C>A c.(1177-1179)TCC>TAC p.S393Y NOX4_uc009yvr.2_Missense_Mutation_p.S368Y|NOX4_uc001pcu.2_Missense_Mutation_p.S319Y|NOX4_uc001pcw.2_Missense_Mutation_p.S86Y|NOX4_uc001pcx.2_Missense_Mutation_p.S86Y|NOX4_uc001pcv.2_Missense_Mutation_p.S393Y|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.S227Y|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Missense_Mutation_p.S369Y|NOX4_uc009yvq.2_Missense_Mutation_p.S369Y NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 393 FAD-binding FR-type.|Extracellular (Potential).|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) CAGAATTTCGGAGTCTTGACT 0.368 NA 5 12 0.00198382 0.00209137 0.001984 1 0 NAALAD2 10003 broad.mit.edu 37 11 89885504 89885504 + Silent SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:89885504C>A uc001pdf.3 + 6 757 c.648C>A c.(646-648)ATC>ATA p.I216I NAALAD2_uc009yvx.2_Silent_p.I216I|NAALAD2_uc009yvy.2_Silent_p.I216I|NAALAD2_uc001pdd.2_Silent_p.I216I|NAALAD2_uc001pde.2_Silent_p.I216I NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 216 Extracellular (Potential). proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TAGGAATCATCTTGTACTCAG 0.438 NA 6 34 0.00307968 0.00321758 0.00308 1 0 CNTN5 53942 broad.mit.edu 37 11 100211914 100211914 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:100211914G>A uc001pga.2 + 23 3346 c.3007G>A c.(3007-3009)GAA>AAA p.E1003K CNTN5_uc001pgb.2_Missense_Mutation_p.E929K|CNTN5_uc010ruk.1_Missense_Mutation_p.E274K NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 1003 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ATTAGCCAACGAATCTGAAGT 0.433 NA 21 58 0 0 0.00333 0 0 PGR 5241 broad.mit.edu 37 11 100999577 100999577 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:100999577C>A uc001pgh.2 - 1 968 c.225G>T c.(223-225)CAG>CAT p.Q75H PGR_uc001pgi.2_Missense_Mutation_p.Q75H|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 75 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) ACTGCTGGTCCTGCGTCTTTT 0.612 Pancreas(124;2271 2354 21954 22882) NA 8 19 0.000274275 0.000298125 0.004482 1 0 NCAM1 4684 broad.mit.edu 37 11 113103043 113103043 + Missense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:113103043G>C uc009yyq.1 + 12 1810 c.1116G>C c.(1114-1116)AAG>AAC p.K372N NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 464 Ig-like C2-type 5.|Extracellular (Potential). axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GCAATATCAAGATCTACAACA 0.527 NA 10 51 0 0 0.004007 0 0 BUD13 84811 broad.mit.edu 37 11 116633454 116633454 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:116633454C>G uc001ppn.2 - 4 885 c.851G>C c.(850-852)AGA>ACA p.R284T BUD13_uc001ppo.2_Intron|BUD13_uc009yzc.2_Missense_Mutation_p.R284T NM_032725 NP_116114 Q9BRD0 BUD13_HUMAN BUD13 homolog isoform 1 284 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) ACTTTTGGTTCTGGGCAGGGA 0.498 NA 10 72 0 0 0.006214 0 0 ZNF202 7753 broad.mit.edu 37 11 123601409 123601409 + Missense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:123601409G>C uc001pzd.1 - 4 588 c.188C>G c.(187-189)GCT>GGT p.A63G ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.A63G|ZNF202_uc001pzf.1_Missense_Mutation_p.A63G NM_003455 NP_003446 O95125 ZN202_HUMAN zinc finger protein 202 63 SCAN box. lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) TCTGATGAGAGCTTCTCTAGG 0.557 NA 7 35 0 0 0.001984 0 0 OR6X1 390260 broad.mit.edu 37 11 123625181 123625181 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr11:123625181G>T uc010rzy.1 - 1 46 c.46C>A c.(46-48)CCT>ACT p.P16T NM_001005188 NP_001005188 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TGGATAACAGGAAAGCCTAGC 0.433 NA 12 70 2.62699e-14 3.34344e-14 0.003163 1 0 C1RL 51279 broad.mit.edu 37 12 7249397 7249397 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr12:7249397C>A uc001qsn.2 - 6 1071 c.1054G>T c.(1054-1056)GGC>TGC p.G352C C1RL_uc009zft.2_3'UTR NM_016546 NP_057630 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 352 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity pancreas(1) 1 ACGTTGGGGCCCAGGGGGATG 0.612 NA 4 31 0.000602214 0.000642607 0.000602 1 0 PHC1 1911 broad.mit.edu 37 12 9074263 9074263 + Missense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr12:9074263G>C uc001qvd.2 + 5 529 c.373G>C c.(373-375)GCT>CCT p.A125P PHC1_uc001qvc.1_Missense_Mutation_p.A88P|PHC1_uc010sgn.1_Missense_Mutation_p.A125P|PHC1_uc001qve.2_Missense_Mutation_p.A125P NM_004426 NP_004417 P78364 PHC1_HUMAN polyhomeotic 1-like 125 multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|breast(1) 2 CTCTCCCAGTGCTACCACCTT 0.567 NA 4 40 0 0 0.001168 0 0 CLEC1B 51266 broad.mit.edu 37 12 10150953 10150953 + Missense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr12:10150953G>C uc001qwu.2 - 2 291 c.91C>G c.(91-93)CGT>GGT p.R31G CLEC1B_uc009zhd.2_Intron NM_016509 NP_057593 Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B isoform 31 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity 0 GCCATCACACGCCACCAGGAG 0.532 NA 34 61 0 0 0.00623 0 0 ARHGDIB 397 broad.mit.edu 37 12 15095501 15095501 + Silent SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr12:15095501G>A uc001rcq.1 - 6 665 c.561C>T c.(559-561)CTC>CTT p.L187L ARHGDIB_uc001rcp.1_RNA NM_001175 NP_001166 P52566 GDIR2_HUMAN Rho GDP dissociation inhibitor (GDI) beta 187 actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol GTPase activator activity|Rho GDP-dissociation inhibitor activity 0 ACTCCCAGCTGAGGTGGTCTT 0.552 NA 12 84 0 0 0.003163 0 0 KCNJ8 3764 broad.mit.edu 37 12 21919149 21919149 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr12:21919149C>T uc001rff.2 - 3 1121 c.783G>A c.(781-783)CTG>CTA p.L261L NM_004982 NP_004973 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel J8 261 Cytoplasmic (By similarity). voltage-gated potassium channel complex 0 Levosimendan(DB00922) AAGGGGCCACCAGAAAAATGT 0.478 NA 7 9 0 0 0.00308 0 0 DNAJC22 79962 broad.mit.edu 37 12 49742929 49742929 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr12:49742929G>T uc001rua.2 + 2 675 c.274G>T c.(274-276)GGC>TGC p.G92C DNAJC22_uc001rub.2_Missense_Mutation_p.G92C NM_024902 NP_079178 Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 92 Helical; (Potential). protein folding integral to membrane heat shock protein binding|unfolded protein binding ovary(1) 1 CATCTATTTTGGCCTTGTGGC 0.567 NA 30 71 9.78485e-24 1.30714e-23 0.013726 1 0 OR6C6 283365 broad.mit.edu 37 12 55688659 55688659 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr12:55688659G>A uc010sph.1 - 1 358 c.358C>T c.(358-360)CGC>TGC p.R120C NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, 120 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|skin(1) 2 GCAACGTAGCGGTCATAGGAC 0.393 NA 10 16 0 0 0.013537 0 0 R3HDM2 22864 broad.mit.edu 37 12 57648586 57648586 + Silent SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr12:57648586C>A uc009zpm.1 - 22 2936 c.2901G>T c.(2899-2901)CTG>CTT p.L967L R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Silent_p.L662L|R3HDM2_uc001snr.2_Silent_p.L694L|R3HDM2_uc001sns.2_Silent_p.L967L|R3HDM2_uc001snt.2_Silent_p.L981L|R3HDM2_uc009zpn.1_Intron NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 967 nucleus nucleic acid binding ovary(2) 2 CCAGGATCCTCAGGTCATAGT 0.557 NA 5 29 0.00198382 0.00209137 0.001984 1 0 RAP1B 5908 broad.mit.edu 37 12 69050962 69050962 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr12:69050962C>T uc001sub.2 + 7 713 c.550C>T c.(550-552)CTT>TTT p.L184F RAP1B_uc010ste.1_Missense_Mutation_p.L118F|RAP1B_uc001suc.2_Missense_Mutation_p.L184F|RAP1B_uc010stf.1_Missense_Mutation_p.L165F|RAP1B_uc010stg.1_Missense_Mutation_p.L142F|RAP1B_uc010sth.1_Missense_Mutation_p.L142F|RAP1B_uc010sti.1_Missense_Mutation_p.L137F NM_001089704 NP_001083173 P61224 RAP1B_HUMAN SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family; 184 blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion cell-cell junction|cytosol GDP binding|GTP binding|GTPase activity|protein binding 0 Breast(13;1.24e-05) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GBM - Glioblastoma multiforme(7;0.000306) ATGTCAGCTGCTTTAATATAC 0.383 NA 21 30 0 0 0.00333 0 0 FRS2 10818 broad.mit.edu 37 12 69962837 69962837 + Missense_Mutation SNP T T A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr12:69962837T>A uc001suy.2 + 6 537 c.27T>A c.(25-27)GAT>GAA p.D9E FRS2_uc001suz.2_Missense_Mutation_p.D9E|FRS2_uc009zrj.2_Missense_Mutation_p.D9E|FRS2_uc009zrk.2_Missense_Mutation_p.D9E NM_006654 NP_006645 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 9 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity prostate(1)|kidney(1) 2 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GCTGTCCAGATAAAGACACTG 0.363 NA 9 22 0 0 0.010729 0 0 NAV3 89795 broad.mit.edu 37 12 78388619 78388619 + Missense_Mutation SNP T T A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr12:78388619T>A uc001syp.2 + 6 881 c.708T>A c.(706-708)AGT>AGA p.S236R NAV3_uc001syo.2_Missense_Mutation_p.S236R NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 236 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CTAATCACAGTGGAATTGCAA 0.348 NA HNSCC(70;0.22) 12 23 0 0 0.004007 0 0 SCYL2 55681 broad.mit.edu 37 12 100723039 100723039 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr12:100723039G>T uc001thn.2 + 13 1753 c.1703G>T c.(1702-1704)GGA>GTA p.G568V SCYL2_uc001thm.1_Missense_Mutation_p.G568V NM_017988 NP_060458 Q6P3W7 SCYL2_HUMAN SCY1-like 2 protein 568 endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding lung(3)|ovary(2)|skin(1) 6 CAGCTGGCCGGAAAAGTGTTG 0.333 NA 17 26 3.8784e-16 5.00901e-16 0.012319 1 0 ACACB 32 broad.mit.edu 37 12 109614007 109614007 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr12:109614007G>A uc001tob.2 + 9 1495 c.1376G>A c.(1375-1377)GGC>GAC p.G459D ACACB_uc001toc.2_Missense_Mutation_p.G459D NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 459 Biotin carboxylation.|ATP-grasp.|ATP (Potential). acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) TCTGAAGGTGGCGGAGGGAAG 0.493 NA 70 132 0 0 0.01441 0 0 RSRC2 65117 broad.mit.edu 37 12 122992965 122992965 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr12:122992965C>A uc001ucr.2 - 8 981 c.835G>T c.(835-837)GTT>TTT p.V279F RSRC2_uc001uco.2_Missense_Mutation_p.V48F|RSRC2_uc001ucp.2_Missense_Mutation_p.V220F|RSRC2_uc001ucq.2_Missense_Mutation_p.V47F|RSRC2_uc001ucs.2_Missense_Mutation_p.V48F|RSRC2_uc001uct.2_Missense_Mutation_p.V231F|RSRC2_uc001ucu.2_Missense_Mutation_p.V280F NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 isoform a 279 ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) AGGGCAGCAACATTGAGAACA 0.433 NA 3 12 6.4e-05 7.08861e-05 0.004672 1 0 STARD13 90627 broad.mit.edu 37 13 33703375 33703375 + Missense_Mutation SNP T T C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr13:33703375T>C uc001uuw.2 - 5 1565 c.1439A>G c.(1438-1440)GAT>GGT p.D480G STARD13_uc001uuu.2_Missense_Mutation_p.D472G|STARD13_uc001uuv.2_Missense_Mutation_p.D362G|STARD13_uc001uux.2_Missense_Mutation_p.D445G|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.D465G NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 480 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GAAAAGGTCATCTTTCTCCAA 0.502 NA 27 31 0 0 0.007291 0 0 NBEA 26960 broad.mit.edu 37 13 35615154 35615154 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr13:35615154C>A uc001uvb.2 + 3 585 c.379C>A c.(379-381)CAC>AAC p.H127N NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 127 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GCTTTTGGAGCACTGTGATGT 0.393 NA 23 46 1.17739e-12 1.47702e-12 0.005443 1 0 NALCN 259232 broad.mit.edu 37 13 101717763 101717763 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr13:101717763C>T uc001vox.1 - 40 4786 c.4597G>A c.(4597-4599)GTC>ATC p.V1533I NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1533 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TACCTCAGGACATCATGGAAG 0.542 NA 27 61 0 0 0.012213 0 0 CUL4A 8451 broad.mit.edu 37 13 113907459 113907459 + Nonsense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr13:113907459C>T uc010tjy.1 + 17 1713 c.1702C>T c.(1702-1704)CAG>TAG p.Q568* CUL4A_uc010tjx.1_Nonsense_Mutation_p.Q468*|CUL4A_uc010agu.2_Nonsense_Mutation_p.Q429*|CUL4A_uc010tjz.1_Nonsense_Mutation_p.Q247* NM_001008895 NP_001008895 Q13619 CUL4A_HUMAN cullin 4A isoform 1 568 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding central_nervous_system(2)|skin(1) 3 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) TCGAAAACTTCAGTGGCAAAC 0.303 NA 14 42 0 0 0.00499 0 0 RNASE3 6037 broad.mit.edu 37 14 21359990 21359990 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr14:21359990C>G uc001vyj.2 + 2 199 c.145C>G c.(145-147)CGA>GGA p.R49G NM_002935 NP_002926 P12724 ECP_HUMAN ribonuclease, RNase A family, 3 (eosinophil 49 defense response to bacterium|RNA catabolic process extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) GAACCCCCCTCGATGCACCAT 0.478 NA 5 91 0 0 0.000602 0 0 LRP10 26020 broad.mit.edu 37 14 23344587 23344587 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr14:23344587G>A uc001whd.2 + 5 983 c.430G>A c.(430-432)GAG>AAG p.E144K LRP10_uc001whe.2_Missense_Mutation_p.E20K NM_014045 NP_054764 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 144 LDL-receptor class A 1.|Extracellular (Potential). endocytosis coated pit|integral to membrane central_nervous_system(1) 1 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) CCTGCAGGAAGAGTTTCAGTG 0.577 NA 13 72 0 0 0.006122 0 0 LTB4R 1241 broad.mit.edu 37 14 24785492 24785493 + Missense_Mutation DNP GC GC TT TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr14:24785492_24785493GC>TT uc001wos.2 + 2 956_957 c.635_636GC>TT c.(634-636)CGC>CTT p.R212L LTB4R_uc010alp.2_Missense_Mutation_p.R212L|LTB4R_uc001wou.2_Missense_Mutation_p.R212L NM_001143919 NP_001137391 Q15722 LT4R1_HUMAN leukotriene B4 receptor 212 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding 0 GBM - Glioblastoma multiforme(265;0.018) CAGGCCCGGCGCTTCCGCCGCA 0.673 NA 4 14 0 0 0.004672 0 0 PRKD1 5587 broad.mit.edu 37 14 30194845 30194845 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr14:30194845C>T uc001wqh.2 - 2 481 c.300G>A c.(298-300)AAG>AAA p.K100K NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 100 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) AAAGCAGGATCTTATCATACA 0.393 NA 16 73 0 0 0.006122 0 0 HEATR5A 25938 broad.mit.edu 37 14 31771573 31771573 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr14:31771573C>G uc001wrf.3 - 27 4590 c.4513G>C c.(4513-4515)GAA>CAA p.E1505Q HEATR5A_uc010ami.2_Intron NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1792 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) CGGCTCTTTTCTGCCCGGGCC 0.483 NA 5 14 0 0 0.001168 0 0 LRFN5 145581 broad.mit.edu 37 14 42356780 42356780 + Missense_Mutation SNP A A C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr14:42356780A>C uc001wvm.2 + 3 2150 c.952A>C c.(952-954)ATT>CTT p.I318L LRFN5_uc010ana.2_Missense_Mutation_p.I318L NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 318 Extracellular (Potential).|Ig-like. 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) TGAGCCTGCAATTCACTGGAT 0.463 NA HNSCC(30;0.082) 4 104 0 0 0.000602 0 0 ADAM20 8748 broad.mit.edu 37 14 70991355 70991355 + Silent SNP T T C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr14:70991355T>C uc001xme.2 - 2 515 c.270A>G c.(268-270)CCA>CCG p.P90P NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 40 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TCACCACTTCTGGAGAAGTGA 0.532 NA 5 22 0 0 0.001168 0 0 C14orf174 161394 broad.mit.edu 37 14 77844488 77844488 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr14:77844488G>A uc001xtq.1 + 1 727 c.727G>A c.(727-729)GAG>AAG p.E243K TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN hypothetical protein LOC161394 243 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0278) GACTCCAGAGGAGACACAAAG 0.468 NA 7 23 0 0 0.001984 0 0 TYRO3 7301 broad.mit.edu 37 15 41870191 41870191 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr15:41870191C>T uc001zof.1 + 19 2614 c.2390C>T c.(2389-2391)TCT>TTT p.S797F NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 797 Cytoplasmic (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) TCTGTGCTATCTGCCAGCCAG 0.587 NA 6 27 0 0 0.001984 0 0 SLC30A4 7782 broad.mit.edu 37 15 45803358 45803358 + Silent SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr15:45803358G>A uc001zvj.2 - 3 828 c.516C>T c.(514-516)TTC>TTT p.F172F C15orf21_uc001zvk.2_RNA|C15orf21_uc010beg.1_RNA|C15orf21_uc010beh.1_RNA|C15orf21_uc010bei.1_RNA|C15orf21_uc010bej.1_RNA|C15orf21_uc001zvm.1_RNA|C15orf21_uc001zvn.1_RNA NM_013309 NP_037441 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), 172 Cytoplasmic (Potential). regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity 0 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) ATCCAAAGGTGAATCTTTTGG 0.368 NA 9 156 0 0 0.008291 0 0 UACA 55075 broad.mit.edu 37 15 70976696 70976696 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr15:70976696G>A uc002asr.2 - 8 796 c.692C>T c.(691-693)GCG>GTG p.A231V UACA_uc010uke.1_Intron|UACA_uc002asq.2_Missense_Mutation_p.A218V|UACA_uc010bin.1_Missense_Mutation_p.A217V NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 231 cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 ATGGCCAAGCGCATCCAGCAA 0.408 NA 29 68 0 0 0.012213 0 0 PIGQ 9091 broad.mit.edu 37 16 633139 633139 + Silent SNP G G A rs150021665 byFrequency TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr16:633139G>A uc002cho.2 + 10 1890 c.1788G>A c.(1786-1788)ACG>ACA p.T596T PIGQ_uc010bqw.2_3'UTR|PIGQ_uc002chn.2_3'UTR|PIGQ_uc010uui.1_3'UTR|PIGQ_uc002chp.2_Silent_p.T166T|uc010uuj.1_3'UTR NM_148920 NP_683721 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, 596 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1) 1 Hepatocellular(780;0.00335) CTTTGTGGACGCTGCTGTGTG 0.647 NA 10 83 0 0 0.013537 0 0 CACNA1H 8912 broad.mit.edu 37 16 1261984 1261984 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr16:1261984C>T uc002cks.2 + 25 4853 c.4605C>T c.(4603-4605)TTC>TTT p.F1535F CACNA1H_uc002ckt.2_Silent_p.F1535F|CACNA1H_uc002cku.2_Silent_p.F241F|CACNA1H_uc010brj.2_Silent_p.F241F|CACNA1H_uc002ckv.2_Silent_p.F241F NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 1535 Helical; Name=S6 of repeat III; (Potential).|III. 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) TGCTGTACTTCATCTCCTTCC 0.642 NA 13 228 0 0 0.00499 0 0 E4F1 1877 broad.mit.edu 37 16 2282276 2282276 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr16:2282276G>T uc002cpm.2 + 4 568 c.520G>T c.(520-522)GCA>TCA p.A174S E4F1_uc010bsi.2_Missense_Mutation_p.A174S|E4F1_uc010bsj.2_Missense_Mutation_p.A174S NM_004424 NP_004415 Q66K89 E4F1_HUMAN p120E4F 174 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 GCTGGGGCTCGCAGGGGAGGG 0.667 NA 17 16 2.35188e-11 2.87818e-11 0.006122 1 0 CCDC64B 146439 broad.mit.edu 37 16 3078218 3078218 + Silent SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr16:3078218C>G uc002ctf.3 - 9 1461 c.1416G>C c.(1414-1416)CTG>CTC p.L472L CCDC64B_uc002cte.3_Silent_p.L265L NM_001103175 NP_001096645 A1A5D9 BICR2_HUMAN coiled-coil domain containing 64B 472 0 CGGAGGCGCTCAGCTCCTTCT 0.736 NA 2 5 0 0 0.004672 0 0 ACSM2A 123876 broad.mit.edu 37 16 20492237 20492237 + Silent SNP A A T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr16:20492237A>T uc010bwe.2 + 13 1742 c.1503A>T c.(1501-1503)CGA>CGT p.R501R ACSM2A_uc010vax.1_Silent_p.R422R|ACSM2A_uc002dhf.3_Silent_p.R501R|ACSM2A_uc002dhg.3_Silent_p.R501R|ACSM2A_uc010vay.1_Silent_p.R422R|ACSM2A_uc002dhh.3_Silent_p.R131R NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 501 Coenzyme A. fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 ACCCCGTCCGAGGAGAGGTGA 0.443 NA 12 33 0 0 0.00245 0 0 ZP2 7783 broad.mit.edu 37 16 21213302 21213302 + Missense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr16:21213302G>C uc002dii.2 - 12 1330 c.1330C>G c.(1330-1332)CTC>GTC p.L444V ZP2_uc010bwn.1_Missense_Mutation_p.L483V NM_003460 NP_003451 Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 preproprotein 444 Extracellular (Potential).|ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(48;0.0573) TCCGTCCAGAGAGCATGTATT 0.373 NA 8 65 0 0 0.004482 0 0 XPO6 23214 broad.mit.edu 37 16 28128693 28128693 + Silent SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr16:28128693G>A uc002dpa.1 - 15 2451 c.1950C>T c.(1948-1950)TTC>TTT p.F650F XPO6_uc002dpb.1_Silent_p.F636F|XPO6_uc010vcp.1_Silent_p.F650F NM_015171 NP_055986 Q96QU8 XPO6_HUMAN exportin 6 650 protein export from nucleus protein binding|protein transporter activity ovary(1)|skin(1) 2 TGAGTGTCACGAACTGCTGCG 0.502 NA 15 107 0 0 0.00499 0 0 GNAO1 2775 broad.mit.edu 37 16 56226258 56226258 + Silent SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr16:56226258C>A uc002eit.3 + 1 1008 c.111C>A c.(109-111)CTC>CTA p.L37L GNAO1_uc002eiu.3_Silent_p.L37L|LOC283856_uc002eis.1_5'Flank NM_138736 NP_620073 P09471 GNAO_HUMAN guanine nucleotide binding protein, alpha 37 dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity lung(1)|breast(1) 2 all_neural(199;0.159) TGAAATTACTCCTGCTCGGTA 0.662 NA 5 33 8.12818e-05 8.94611e-05 0.001984 1 0 NLRC5 84166 broad.mit.edu 37 16 57073730 57073730 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr16:57073730G>A uc002ekk.1 + 16 3064 c.2839G>A c.(2839-2841)GAG>AAG p.E947K NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.E696K|NLRC5_uc002ekl.2_Missense_Mutation_p.E752K|NLRC5_uc002ekm.2_Missense_Mutation_p.E752K|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_5'Flank|NLRC5_uc002ekp.1_5'Flank NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 947 LRR 7. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) GTTTGCCCAGGAGCCAGAGGA 0.537 NA 14 75 0 0 0.007413 0 0 LCAT 3931 broad.mit.edu 37 16 67974229 67974229 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr16:67974229C>T uc002euy.1 - 6 912 c.901G>A c.(901-903)GAC>AAC p.D301N NM_000229 NP_000220 P04180 LCAT_HUMAN lecithin-cholesterol acyltransferase precursor 301 cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12) CGTTGGAAGTCACGGCCTGTG 0.582 NA 3 58 0 0 0.004672 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76482781 76482781 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr16:76482781C>A uc002feu.1 + 8 1245 c.860C>A c.(859-861)ACA>AAA p.T287K CNTNAP4_uc002fev.1_Missense_Mutation_p.T199K|CNTNAP4_uc010chb.1_Missense_Mutation_p.T262K|CNTNAP4_uc002fex.1_Missense_Mutation_p.T290K|CNTNAP4_uc002few.2_Missense_Mutation_p.T262K NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 287 Extracellular (Potential).|Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 GTCAACTTCACAGTGGACGAA 0.458 NA 4 17 0.000602214 0.000642607 0.000602 1 0 DYNLRB2 83657 broad.mit.edu 37 16 80577179 80577179 + Missense_Mutation SNP G G T rs149421698 byFrequency TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr16:80577179G>T uc002ffo.2 + 4 130 c.10G>T c.(10-12)GTG>TTG p.V4L DYNLRB2_uc002ffp.2_RNA|DYNLRB2_uc002ffq.2_RNA NM_130897 NP_570967 Q8TF09 DLRB2_HUMAN dynein, light chain, roadblock-type 2 4 microtubule-based movement|transport cytoplasmic dynein complex|microtubule microtubule motor activity 0 TCAGGCAGAGGTGGAGGAAAC 0.413 NA 13 39 0.000422831 0.000456762 0.004007 1 0 PKD1L2 114780 broad.mit.edu 37 16 81183335 81183335 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr16:81183335C>A uc002fgh.1 - 28 4713 c.4713G>T c.(4711-4713)TGG>TGT p.W1571C PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 1571 Helical; (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 TGGGGACCCCCCAGAACATGA 0.597 NA 5 14 1.23904e-05 1.39442e-05 0.000602 1 0 PKD1L2 114780 broad.mit.edu 37 16 81214828 81214828 + Silent SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr16:81214828G>C uc002fgh.1 - 12 2046 c.2046C>G c.(2044-2046)CTC>CTG p.L682L PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_5'UTR|PKD1L2_uc002fgj.2_Silent_p.L682L|PKD1L2_uc002fgl.1_5'UTR NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 682 REJ.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 TGGTGACCCTGAGCAGAATGT 0.517 NA 13 60 0 0 0.004007 0 0 PRDM7 11105 broad.mit.edu 37 16 90130098 90130098 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr16:90130098C>A uc010cje.2 - 5 450 c.430G>T c.(430-432)GAC>TAC p.D144Y PRDM7_uc002fqo.2_5'Flank|PRDM7_uc010cjf.2_Intron|PRDM7_uc010cjg.1_5'Flank|PRDM7_uc010cjh.1_Intron NM_001098173 NP_001091643 Q9NQW5 PRDM7_HUMAN PR domain containing 7 isoform 1 144 chromosome|nucleus nucleic acid binding ovary(1) 1 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) TGCTCTGAGTCACTTGTATTC 0.423 NA 15 20 3.51602e-12 4.39502e-12 0.008871 1 0 SMYD4 114826 broad.mit.edu 37 17 1686381 1686381 + Missense_Mutation SNP T T C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr17:1686381T>C uc002ftm.3 - 10 2377 c.2209A>G c.(2209-2211)AGT>GGT p.S737G SMYD4_uc002ftn.1_Missense_Mutation_p.S592G NM_052928 NP_443160 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 737 zinc ion binding skin(3)|kidney(2) 5 ATTTCAACACTGGACGGCCCG 0.517 NA 13 23 0 0 0.001855 0 0 TP53 7157 broad.mit.edu 37 17 7579533 7579533 + Nonsense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr17:7579533G>A uc002gim.2 - 4 348 c.154C>T c.(154-156)CAA>TAA p.Q52* TP53_uc002gig.1_Nonsense_Mutation_p.Q52*|TP53_uc002gih.2_Nonsense_Mutation_p.Q52*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.Q52*|TP53_uc010cni.1_Nonsense_Mutation_p.Q52*|TP53_uc002gij.2_Nonsense_Mutation_p.Q52*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.Q13*|TP53_uc010cnk.1_Nonsense_Mutation_p.Q67* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 52 TADII.|Interaction with HRMT1L2. Q -> H (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.Q52*(6)|p.Q52>P*(1)|p.Q52H(1)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.Q52fs*6(1)|p.E51_Q52insX(1)|p.P13fs*18(1)|p.S33fs*23(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGAACCATTGTTCAATATCG 0.582 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 61 97 0 0 0.01441 0 0 MAP2K3 5606 broad.mit.edu 37 17 21217498 21217498 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr17:21217498G>A uc002gys.2 + 12 1265 c.1000G>A c.(1000-1002)GAC>AAC p.D334N MAP2K3_uc002gyt.2_Missense_Mutation_p.D305N|MAP2K3_uc002gyu.2_Missense_Mutation_p.D305N NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 334 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CAAGAAGACGGACATTGCTGC 0.627 NA 57 386 0 0 0.01441 0 0 Unknown 0 broad.mit.edu 37 17 21730906 21730906 + Missense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr17:21730906G>C uc002gyy.3 + 2 333 c.208G>C c.(208-210)GTC>CTC p.V70L SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; NA CCTGCATCTGGTCCTGCGTCG 0.552 NA 16 40 0 0 0.010504 0 0 ACLY 47 broad.mit.edu 37 17 40070111 40070111 + Missense_Mutation SNP T T C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr17:40070111T>C uc002hyg.2 - 2 179 c.16A>G c.(16-18)ATT>GTT p.I6V ACLY_uc002hyh.2_Missense_Mutation_p.I6V|ACLY_uc002hyi.2_Missense_Mutation_p.I60V|ACLY_uc010wfx.1_Missense_Mutation_p.I60V|ACLY_uc010wfy.1_Missense_Mutation_p.I6V NM_001096 NP_001087 P53396 ACLY_HUMAN ATP citrate lyase isoform 1 6 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity ovary(2)|central_nervous_system(1) 3 Breast(137;0.000143) TGCTCTGAAATTGCCTTGGCC 0.547 Colon(64;807 1396 15971 30971) NA 14 127 0 0 0.006122 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40652901 40652901 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr17:40652901C>T uc002hzr.2 + 16 2023 c.1856C>T c.(1855-1857)TCC>TTC p.S619F ATP6V0A1_uc002hzq.2_Missense_Mutation_p.S619F|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.S626F|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.S576F|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.S576F|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.S265F|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.S478F NM_001130021 NP_001123493 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 619 Helical; (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) TTCCTCTTTTCCTACCCAGAG 0.428 NA 4 130 0 0 0.000602 0 0 C17orf53 78995 broad.mit.edu 37 17 42228409 42228409 + Silent SNP A A G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr17:42228409A>G uc002ifi.1 + 4 1490 c.1305A>G c.(1303-1305)ACA>ACG p.T435T C17orf53_uc010czq.1_Silent_p.T435T|C17orf53_uc002ifj.1_Intron|C17orf53_uc002ifk.1_Intron NM_024032 NP_076937 Q8N3J3 CQ053_HUMAN hypothetical protein LOC78995 435 0 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) AATTCCAGACAGAGGTAACTT 0.502 NA 7 18 0 0 0.00308 0 0 GRN 2896 broad.mit.edu 37 17 42427843 42427843 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr17:42427843C>T uc002igp.1 + 6 715 c.496C>T c.(496-498)CCG>TCG p.P166S GRN_uc002igq.1_3'UTR|GRN_uc002igr.1_5'UTR NM_002087 NP_002078 P28799 GRN_HUMAN granulin precursor 166 signal transduction extracellular space cytokine activity|growth factor activity ovary(2)|central_nervous_system(2)|skin(1) 5 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) GCACTGCTGTCCGCACGGTGC 0.632 NA OREG0024459 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 191 0 0 0.007291 0 0 KIF2B 84643 broad.mit.edu 37 17 51902313 51902313 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr17:51902313G>T uc002iua.2 + 1 2075 c.1919G>T c.(1918-1920)CGG>CTG p.R640L uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 640 Potential. 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 TGCATTGCCCGGTCTTTGTCC 0.443 NA 19 28 1.22574e-08 1.43481e-08 0.014323 1 0 C17orf47 284083 broad.mit.edu 37 17 56621498 56621498 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr17:56621498C>G uc002iwq.1 - 1 186 c.50G>C c.(49-51)AGA>ACA p.R17T NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN hypothetical protein LOC284083 17 breast(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTCAGACCCTCTCTGTGCTGA 0.517 NA 14 94 0 0 0.00245 0 0 INTS2 57508 broad.mit.edu 37 17 59972721 59972721 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr17:59972721C>G uc002izn.2 - 12 1618 c.1542G>C c.(1540-1542)TTG>TTC p.L514F INTS2_uc002izm.2_Missense_Mutation_p.L506F NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 514 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 TCATCCTGCTCAAGGAGCTTG 0.289 NA 2 7 0 0 0.004672 0 0 SLC38A10 124565 broad.mit.edu 37 17 79246348 79246348 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr17:79246348C>T uc002jzz.1 - 9 1367 c.992G>A c.(991-993)GGA>GAA p.G331E SLC38A10_uc002jzy.1_Missense_Mutation_p.G249E|SLC38A10_uc002kab.2_Missense_Mutation_p.G331E NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 331 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) AACCATGGTTCCAAACACCAC 0.557 NA 14 79 0 0 0.004007 0 0 FASN 2194 broad.mit.edu 37 17 80041265 80041265 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr17:80041265C>A uc002kdu.2 - 32 5495 c.5378G>T c.(5377-5379)GGG>GTG p.G1793V FASN_uc002kdv.1_5'Flank NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 1793 Enoyl reductase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CAGTAGGACCCCGTGGAATGT 0.647 Colon(59;314 1043 11189 28578 32273) NA 10 21 9.31168e-06 1.05472e-05 0.001855 1 0 ANKRD30B 374860 broad.mit.edu 37 18 14848862 14848862 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr18:14848862C>T uc010dlo.2 + 34 3152 c.2972C>T c.(2971-2973)GCG>GTG p.A991V ANKRD30B_uc010xal.1_Missense_Mutation_p.A133V NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1076 Potential. ovary(1)|skin(1) 2 CTGTCAGAAGCGAAAGAAATA 0.328 NA 3 5 0 0 0.000602 0 0 C18orf34 374864 broad.mit.edu 37 18 30873179 30873179 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr18:30873179C>T uc002kxn.2 - 11 1262 c.1120G>A c.(1120-1122)GAA>AAA p.E374K C18orf34_uc010xbr.1_Missense_Mutation_p.E374K|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.E374K|C18orf34_uc002kxp.2_Missense_Mutation_p.E374K NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 374 Potential. ovary(1) 1 CTTATTGCTTCAGTCACTTCC 0.279 NA 8 22 0 0 0.004482 0 0 SETBP1 26040 broad.mit.edu 37 18 42530277 42530277 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr18:42530277G>T uc010dni.2 + 4 1268 c.972G>T c.(970-972)GAG>GAT p.E324D NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 324 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GTACAAAGGAGCCCCCAGAAC 0.542 NA Schinzel-Giedion_syndrome 9 25 7.48243e-07 8.61464e-07 0.006214 1 0 CXXC1 30827 broad.mit.edu 37 18 47809014 47809014 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr18:47809014C>T uc002leq.3 - 15 2653 c.1920G>A c.(1918-1920)ACG>ACA p.T640T MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc010dox.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Silent_p.T497T|CXXC1_uc002ler.3_Silent_p.T644T|CXXC1_uc010doy.2_3'UTR NM_014593 NP_055408 Q9P0U4 CXXC1_HUMAN CXXC finger 1 (PHD domain) isoform 2 640 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CGTGCTGGATCGTCTGGTGCA 0.642 NA 8 58 0 0 0.006214 0 0 BCL2 596 broad.mit.edu 37 18 60985347 60985347 + Silent SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr18:60985347G>A uc002lit.1 - 2 1046 c.553C>T c.(553-555)CTG>TTG p.L185L BCL2_uc002liu.1_Silent_p.L185L|BCL2_uc002liv.1_Silent_p.L185L NM_000633 NP_000624 P10415 BCL2_HUMAN B-cell lymphoma protein 2 alpha isoform 185 activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding central_nervous_system(1) 1 all_hematologic(56;1.18e-20)|Prostate(75;0.0872) Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935) Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367) CAGGTGTGCAGGTGCCGGTTC 0.612 NA T IGH@ NHL|CLL 9 36 0 0 0.013537 0 0 SERPINB7 8710 broad.mit.edu 37 18 61463530 61463530 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr18:61463530G>A uc002ljl.2 + 5 463 c.367G>A c.(367-369)GAT>AAT p.D123N SERPINB7_uc002ljm.2_Missense_Mutation_p.D123N|SERPINB7_uc010xet.1_Missense_Mutation_p.D106N|SERPINB7_uc010dqg.2_Missense_Mutation_p.D123N NM_001040147 NP_001035237 O75635 SPB7_HUMAN serine (or cysteine) proteinase inhibitor, clade 123 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity lung(2)|central_nervous_system(1) 3 Esophageal squamous(42;0.129) AAAATTATACGATGCCAAAGT 0.318 NA 4 10 0 0 0.009096 0 0 SALL3 27164 broad.mit.edu 37 18 76755179 76755179 + Missense_Mutation SNP T T C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr18:76755179T>C uc002lmt.2 + 2 3188 c.3188T>C c.(3187-3189)ATG>ACG p.M1063T SALL3_uc010dra.2_Missense_Mutation_p.M598T NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 1063 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) ATGATCAAAATGGAAGTGAAC 0.632 NA 10 26 0 0 0.001855 0 0 MUC16 94025 broad.mit.edu 37 19 9061942 9061942 + Missense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr19:9061942G>C uc002mkp.2 - 3 25708 c.25504C>G c.(25504-25506)CCT>GCT p.P8502A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8504 Ser-rich.|Thr-rich.|Extracellular (Potential). 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 GTAGCCCCAGGAGAACCTGTC 0.488 NA 25 122 0 0 0.008361 0 0 MUC16 94025 broad.mit.edu 37 19 9069683 9069683 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr19:9069683C>T uc002mkp.2 - 3 17967 c.17763G>A c.(17761-17763)GTG>GTA p.V5921V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5923 Thr-rich.|Extracellular (Potential). 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 TGGTTTCTTCCACAGAGGGAG 0.498 NA 12 23 0 0 0.013537 0 0 ELOF1 84337 broad.mit.edu 37 19 11665067 11665067 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr19:11665067C>T uc002mse.1 - 2 160 c.96G>A c.(94-96)GAG>GAA p.E32E ELOF1_uc002msd.1_Silent_p.E53E NM_032377 NP_115753 P60002 ELOF1_HUMAN elongation factor 1 homolog (ELF1, S. 32 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding 0 CACAGGATTTCTCGTGGTTGC 0.577 NA 20 66 0 0 0.003954 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13930173 13930173 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr19:13930173G>T uc002mxh.1 + 9 1765 c.1576G>T c.(1576-1578)GGT>TGT p.G526C ZSWIM4_uc010xng.1_Missense_Mutation_p.G449C NM_023072 NP_075560 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 526 zinc ion binding central_nervous_system(2) 2 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) TCCTGCAGGGGGTCCCTTCAG 0.637 NA 3 13 0.00024832 0.000270754 0.009096 1 0 AKAP8 10270 broad.mit.edu 37 19 15483984 15483984 + Missense_Mutation SNP C C T rs144996992 TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr19:15483984C>T uc002nav.2 - 5 600 c.539G>A c.(538-540)CGG>CAG p.R180Q AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_5'UTR NM_005858 NP_005849 O43823 AKAP8_HUMAN A-kinase anchor protein 8 180 signal transduction nuclear matrix ovary(1)|breast(1) 2 AAGGGAGCCCCGCTCCCGGGC 0.682 GBM(190;1671 2163 3274 27186 30476) NA 3 25 0 0 0.009096 0 0 FAM129C 199786 broad.mit.edu 37 19 17644449 17644449 + Silent SNP G G T rs140293166 by1000genomes TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr19:17644449G>T uc010xpr.1 + 5 597 c.459G>T c.(457-459)ACG>ACT p.T153T FAM129C_uc010xpq.1_Silent_p.T153T|FAM129C_uc010xps.1_Silent_p.T122T|FAM129C_uc010xpt.1_RNA NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 153 0 CAGGATACACGCTCCTGACTT 0.517 NA 12 33 0.000422831 0.000456762 0.004007 1 0 FAM129C 199786 broad.mit.edu 37 19 17650003 17650003 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr19:17650003G>T uc010xpr.1 + 7 871 c.733G>T c.(733-735)GCC>TCC p.A245S FAM129C_uc010xpq.1_Missense_Mutation_p.A245S|FAM129C_uc002ngy.3_5'UTR|FAM129C_uc010xpu.1_5'UTR|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_5'UTR|FAM129C_uc002nhb.2_5'Flank NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 245 0 CTTCCTGGACGCCGTCCGACT 0.697 NA 5 6 3.59834e-05 3.99815e-05 0.001168 1 0 NCAN 1463 broad.mit.edu 37 19 19349097 19349097 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr19:19349097C>A uc002nlz.2 + 11 3385 c.3286C>A c.(3286-3288)CAG>AAG p.Q1096K NCAN_uc010ecc.1_Missense_Mutation_p.Q660K|NCAN_uc002nma.2_5'Flank NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 1096 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GCATAAGTTCCAGGGCCACTG 0.657 NA 29 45 5.52252e-06 6.29603e-06 0.010818 1 0 TYROBP 7305 broad.mit.edu 37 19 36398370 36398370 + Silent SNP A A T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr19:36398370A>T uc002ocm.2 - 3 263 c.207T>A c.(205-207)CCT>CCA p.P69P TYROBP_uc002ocn.2_Silent_p.P69P NM_003332 NP_003323 O43914 TYOBP_HUMAN TYRO protein tyrosine kinase binding protein 69 Cytoplasmic (Potential). axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response integral to plasma membrane|intracellular identical protein binding|receptor signaling protein activity 0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTCGCCCCCGAGGGACCAGCC 0.662 NA 25 86 0 0 0.007291 0 0 PRX 57716 broad.mit.edu 37 19 40902612 40902612 + Silent SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr19:40902612C>G uc002onr.2 - 7 1916 c.1647G>C c.(1645-1647)CCG>CCC p.P549P PRX_uc002onq.2_Silent_p.P410P|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 549 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].|18. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding p.P549P(1) ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTGACACTTTCGGCAGCTGTA 0.577 NA 4 124 0 0 0.000602 0 0 PRX 57716 broad.mit.edu 37 19 40902620 40902620 + Missense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr19:40902620G>C uc002onr.2 - 7 1908 c.1639C>G c.(1639-1641)CAG>GAG p.Q547E PRX_uc002onq.2_Missense_Mutation_p.Q408E|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 547 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].|18. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TTCGGCAGCTGTACCTCTGGA 0.587 NA 4 124 0 0 0.000602 0 0 CEACAM5 1048 broad.mit.edu 37 19 42224083 42224083 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr19:42224083C>T uc002ork.2 + 7 1848 c.1727C>T c.(1726-1728)TCA>TTA p.S576L CEACAM5_uc002orj.1_Missense_Mutation_p.S575L|CEACAM5_uc002orl.2_Missense_Mutation_p.S576L NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 576 Ig-like 6. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) ATCCAGAACTCAGTGAGTGCA 0.517 NA 11 140 0 0 0.003163 0 0 PSG8 440533 broad.mit.edu 37 19 43262416 43262417 + Missense_Mutation DNP GG GG AA rs140447066 by1000genomes TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr19:43262416_43262417GG>AA uc002ouo.2 - 3 544_545 c.446_447CC>TT c.(445-447)CCC>CTT p.P149L PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_5'UTR|PSG8_uc002ouh.2_Missense_Mutation_p.P149L|PSG8_uc010ein.2_Missense_Mutation_p.P27L|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_5'UTR|PSG8_uc002oul.3_Missense_Mutation_p.P149L|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 149 Ig-like C2-type 1. extracellular region 0 Prostate(69;0.00899) TGGAGATGGAGGGCTTGGGAGT 0.52 NA 50 69 0 0 0.004672 0 0 ZNF229 7772 broad.mit.edu 37 19 44934284 44934284 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr19:44934284C>G uc002oze.1 - 6 1106 c.672G>C c.(670-672)TGG>TGC p.W224C ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.W218C NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 224 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) GACAAGATATCCAGCAAAAGC 0.388 NA 35 24 0 0 0.00874 0 0 FUT1 2523 broad.mit.edu 37 19 49253877 49253877 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr19:49253877C>A uc002pkk.2 - 4 1637 c.662G>T c.(661-663)CGT>CTT p.R221L NM_000148 NP_000139 P19526 FUT1_HUMAN fucosyltransferase 1 221 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity ovary(1) 1 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) ATAGTCCCCACGGCGCACGTG 0.687 NA 26 41 1.06801e-11 1.31159e-11 0.009535 1 0 SIGLEC11 114132 broad.mit.edu 37 19 50463829 50463829 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr19:50463829G>A uc010ybh.1 - 2 531 c.440C>T c.(439-441)GCG>GTG p.A147V SIGLEC11_uc010ybi.1_Missense_Mutation_p.A147V NM_052884 NP_443116 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 isoform 1 147 Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) TAGAAAGAACGCATTGCTCAG 0.562 NA 8 38 0 0 0.004482 0 0 GEN1 348654 broad.mit.edu 37 2 17962335 17962335 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr2:17962335C>T uc002rct.2 + 14 1929 c.1856C>T c.(1855-1857)TCA>TTA p.S619L SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.S619L|GEN1_uc002rcu.2_Missense_Mutation_p.S619L NM_182625 NP_872431 Q17RS7 GEN_HUMAN Gen homolog 1, endonuclease 619 DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(5)|kidney(1)|central_nervous_system(1)|skin(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TCAGAGCTATCAGCCATCCCT 0.373 NA Homologous_recombination 9 26 0 0 0.010729 0 0 NCOA1 8648 broad.mit.edu 37 2 24929670 24929670 + Nonsense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr2:24929670C>G uc002rfk.2 + 11 1589 c.1331C>G c.(1330-1332)TCA>TGA p.S444* NCOA1_uc010eye.2_Nonsense_Mutation_p.S444*|NCOA1_uc002rfi.2_Nonsense_Mutation_p.S293*|NCOA1_uc002rfj.2_Nonsense_Mutation_p.S444*|NCOA1_uc002rfl.2_Nonsense_Mutation_p.S444* NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 444 Interaction with STAT3.|Ser-rich. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCGGATGCTCACCCGGAAGT 0.458 NA T PAX3 alveolar rhadomyosarcoma 12 99 0 0 0.003163 0 0 CAD 790 broad.mit.edu 37 2 27457389 27457389 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr2:27457389G>A uc002rji.2 + 23 3784 c.3622G>A c.(3622-3624)GAC>AAC p.D1208N CAD_uc010eyw.2_Missense_Mutation_p.D1145N NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 1208 CPSase B.|ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GCCCCAGGATGACCAGCTGAA 0.393 NA 4 159 0 0 0.001984 0 0 FOSL2 2355 broad.mit.edu 37 2 28635264 28635264 + Silent SNP C C T rs141121352 TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr2:28635264C>T uc002rma.2 + 4 1739 c.930C>T c.(928-930)AGC>AGT p.S310S FOSL2_uc010ymi.1_Silent_p.S271S NM_005253 NP_005244 P15408 FOSL2_HUMAN FOS-like antigen 2 310 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(172;0.155) GCAGTAGCAGCGGGGACCAAT 0.622 NA 3 75 0 0 0.009096 0 0 GPR75 10936 broad.mit.edu 37 2 54081891 54081891 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr2:54081891C>T uc002rxo.3 - 2 274 c.3G>A c.(1-3)ATG>ATA p.M1I ASB3_uc002rxi.3_Intron NM_006794 NP_006785 O95800 GPR75_HUMAN G protein-coupled receptor 75 1 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1)|skin(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CTGTTGAGTTCATTTTCGGAG 0.522 NA 19 107 0 0 0.012319 0 0 CIAO1 9391 broad.mit.edu 37 2 96934240 96934240 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr2:96934240G>A uc002svs.2 + 5 740 c.535G>A c.(535-537)GAG>AAG p.E179K TMEM127_uc002svq.2_5'Flank|TMEM127_uc002svr.2_5'Flank NM_004804 NP_004795 O76071 CIAO1_HUMAN WD repeat domain 39 179 WD 4. chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter MMXD complex protein binding 0 GCTGTACCGGGAGGAAGAGGA 0.562 NA 5 89 0 0 0.00308 0 0 IL1F8 27177 broad.mit.edu 37 2 113788652 113788652 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr2:113788652C>A uc002tiq.1 - 3 198 c.94G>T c.(94-96)GCT>TCT p.A32S IL1F8_uc002tir.1_Missense_Mutation_p.A32S NM_014438 NP_055253 Q9NZH7 IL36B_HUMAN interleukin 1 family, member 8 isoform 1 32 immune response extracellular space cytokine activity|interleukin-1 receptor binding ovary(1) 1 CTAAGAGGAGCTGCTATTAAA 0.493 NA 15 39 6.49762e-13 8.18046e-13 0.006122 1 0 WDR33 55339 broad.mit.edu 37 2 128479467 128479467 + Silent SNP T T C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr2:128479467T>C uc002tpg.1 - 15 1797 c.1614A>G c.(1612-1614)CAA>CAG p.Q538Q NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 538 postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) CAATTTCTGCTTGTGTTTTTT 0.393 NA 23 42 0 0 0.014323 0 0 TTN 7273 broad.mit.edu 37 2 179422610 179422610 + Silent SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr2:179422610G>C uc010zfg.1 - 277 79991 c.79767C>G c.(79765-79767)CTC>CTG p.L26589L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L20284L|TTN_uc010zfi.1_Silent_p.L20217L|TTN_uc010zfj.1_Silent_p.L20092L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27516 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTCCCATTTGAGAGTCACAC 0.428 NA 12 128 0 0 0.013537 0 0 CCDC141 285025 broad.mit.edu 37 2 179736233 179736233 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr2:179736233G>A uc002unf.1 - 4 458 c.401C>T c.(400-402)TCT>TTT p.S134F NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 134 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GTCAAGTGCAGACACAGGCAT 0.403 NA 6 77 0 0 0.001168 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803549 185803549 + Silent SNP A A T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr2:185803549A>T uc002uph.2 + 4 4020 c.3426A>T c.(3424-3426)TCA>TCT p.S1142S NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1142 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 CCAGAACCTCATTACCTCAGC 0.423 NA 22 42 0 0 0.014323 0 0 MARS2 92935 broad.mit.edu 37 2 198570892 198570892 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr2:198570892G>T uc002uuq.2 + 1 806 c.763G>T c.(763-765)GTG>TTG p.V255L uc002uup.2_Intron NM_138395 NP_612404 Q96GW9 SYMM_HUMAN methionine-tRNA synthetase 2 precursor 255 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 L-Methionine(DB00134) CGACCTGTCCGTGTCTCGCAG 0.602 NA 28 50 3.33393e-15 4.27427e-15 0.004878 1 0 FZD7 8324 broad.mit.edu 37 2 202900672 202900672 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr2:202900672C>T uc002uyw.1 + 1 1363 c.1302C>T c.(1300-1302)TTC>TTT p.F434F NM_003507 NP_003498 O75084 FZD7_HUMAN frizzled 7 precursor 434 Helical; Name=5; (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(2)|ovary(1)|breast(1) 4 TCTACCTCTTCATAGGCACGT 0.612 NA OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 40 0 0 0.000602 0 0 TMEM169 92691 broad.mit.edu 37 2 216965204 216965204 + Missense_Mutation SNP A A G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr2:216965204A>G uc010zjr.1 + 4 1159 c.833A>G c.(832-834)AAT>AGT p.N278S TMEM169_uc010zjs.1_Missense_Mutation_p.N278S|TMEM169_uc002vfw.2_Missense_Mutation_p.N278S|TMEM169_uc002vfv.3_Missense_Mutation_p.N278S NM_001142310 NP_001135782 Q96HH4 TM169_HUMAN transmembrane protein 169 278 Extracellular (Potential). integral to membrane ovary(1) 1 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAATCCGACAATATCTCAAGC 0.542 NA 12 36 0 0 0.00245 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217281011 217281011 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr2:217281011G>A uc002vgc.3 + 4 1173 c.843G>A c.(841-843)ATG>ATA p.M281I SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.M281I|SMARCAL1_uc010fvg.2_Missense_Mutation_p.M281I NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 281 HARP 1. chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) ACTTCAGCATGAATGACTATA 0.438 NA Schimke_Immuno-Osseous_Dysplasia 8 95 0 0 0.008291 0 0 D2HGDH 728294 broad.mit.edu 37 2 242690756 242690756 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr2:242690756G>A uc002wce.1 + 8 1266 c.1093G>A c.(1093-1095)GGC>AGC p.G365S D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Missense_Mutation_p.G231S|D2HGDH_uc002wcg.1_Intron|D2HGDH_uc002wch.2_Intron|D2HGDH_uc002wci.2_Missense_Mutation_p.G64S NM_152783 NP_689996 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase precursor 365 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) GCTGGGCTCCGGCCTGGTGAC 0.622 NA 3 33 0 0 0.000602 0 0 FASTKD5 60493 broad.mit.edu 37 20 3127632 3127632 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr20:3127632C>T uc002whz.2 - 2 2396 c.2085G>A c.(2083-2085)ATG>ATA p.M695I uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron NM_021826 NP_068598 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 695 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity 0 CAGCCAGCTTCATTCTTGGGG 0.557 NA 6 73 0 0 0.00308 0 0 ATRN 8455 broad.mit.edu 37 20 3571954 3571954 + Splice_Site SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr20:3571954G>T uc002wim.2 + 19 3412 c.3322_splice c.e19+1 p.P1108_splice ATRN_uc002wil.2_Splice_Site_p.P1108_splice NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 AAATGTCAGCGTAAGTCAAAT 0.463 NA 15 85 1.33834e-09 1.59326e-09 0.007413 1 0 HSPA12B 116835 broad.mit.edu 37 20 3730746 3730746 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr20:3730746C>T uc002wjd.2 + 11 1276 c.1173C>T c.(1171-1173)TTC>TTT p.F391F HSPA12B_uc010zqi.1_Silent_p.F390F|HSPA12B_uc002wje.2_Silent_p.F304F|HSPA12B_uc010zqj.1_Silent_p.F225F NM_052970 NP_443202 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 391 ATP binding 0 CCATCGCCTTCGAGGCTCGCA 0.627 NA 3 12 0 0 0.001168 0 0 CRLS1 54675 broad.mit.edu 37 20 5990502 5990502 + Missense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr20:5990502G>C uc002wmn.3 + 2 542 c.388G>C c.(388-390)GAA>CAA p.E130Q CRLS1_uc010gbq.2_RNA|CRLS1_uc010gbr.2_Missense_Mutation_p.E31Q|CRLS1_uc010gbs.1_Missense_Mutation_p.E19Q NM_019095 NP_061968 Q9UJA2 CRLS1_HUMAN cardiolipin synthase 1 isoform 1 130 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphotransferase activity, for other substituted phosphate groups 0 TTTGATTATTGAAGAAGATTT 0.393 NA 2 29 0 0 0.004672 0 0 C20orf103 24141 broad.mit.edu 37 20 9496746 9496746 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr20:9496746C>A uc002wni.1 + 3 566 c.337C>A c.(337-339)CGC>AGC p.R113S C20orf103_uc010zrc.1_Intron NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN chromosome 20 open reading frame 103 precursor 113 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 COAD - Colon adenocarcinoma(9;0.194) CTGGGTGGATCGCGCATATGC 0.622 NA 7 17 3.09899e-07 3.59154e-07 0.004482 1 0 PAK7 57144 broad.mit.edu 37 20 9546591 9546591 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr20:9546591C>T uc002wnl.2 - 6 1976 c.1431G>A c.(1429-1431)GTG>GTA p.V477V PAK7_uc002wnk.2_Silent_p.V477V|PAK7_uc002wnj.2_Silent_p.V477V|PAK7_uc010gby.1_Silent_p.V477V NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 477 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) CCATTTTCTTCACTGCAACTT 0.458 NA 11 117 0 0 0.001855 0 0 XRN2 22803 broad.mit.edu 37 20 21327175 21327175 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr20:21327175G>A uc002wsf.1 + 17 1747 c.1652G>A c.(1651-1653)AGA>AAA p.R551K XRN2_uc002wsg.1_Missense_Mutation_p.R475K|XRN2_uc010zsk.1_Missense_Mutation_p.R497K NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 551 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 TGGGTTCTTAGATATTATTAC 0.303 NA 15 60 0 0 0.007413 0 0 SDC4 6385 broad.mit.edu 37 20 43959123 43959123 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr20:43959123C>T uc002xnu.2 - 4 368 c.328G>A c.(328-330)GAG>AAG p.E110K SDC4_uc010zws.1_Missense_Mutation_p.E38K NM_002999 NP_002990 P31431 SDC4_HUMAN syndecan 4 precursor 110 Extracellular (Potential). extracellular region|integral to plasma membrane cytoskeletal protein binding|thrombospondin receptor activity 0 Myeloproliferative disorder(115;0.0122) GGGATAACCTCATTCTCCTCT 0.532 NA 12 25 0 0 0.001855 0 0 SLC12A5 57468 broad.mit.edu 37 20 44671916 44671916 + Silent SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr20:44671916C>A uc010zxl.1 + 9 1336 c.1260C>A c.(1258-1260)ACC>ACA p.T420T SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.T397T NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 420 Helical; (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GTGATATGACCTCCTACTTCA 0.567 NA 105 206 1.15969e-64 1.57322e-64 0.01441 1 0 CXADR 1525 broad.mit.edu 37 21 18919367 18919367 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr21:18919367C>T uc002yki.2 + 2 184 c.66C>T c.(64-66)ATC>ATT p.I22I CXADR_uc002ykh.1_Silent_p.I22I|CXADR_uc010gld.1_Silent_p.I22I|CXADR_uc010gle.1_Silent_p.I22I|CXADR_uc002ykj.1_5'UTR NM_001338 NP_001329 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor 22 Extracellular (Potential).|Ig-like C2-type 1. blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity ovary(1) 1 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) GTTTGAGTATCACTACTCCTG 0.478 NA 6 74 0 0 0.001984 0 0 DSCR6 53820 broad.mit.edu 37 21 38380471 38380471 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr21:38380471G>A uc002yvv.2 + 2 329 c.119G>A c.(118-120)CGA>CAA p.R40Q DSCR6_uc011aec.1_5'UTR|DSCR6_uc010gnd.2_5'UTR NM_018962 NP_061835 P57055 DSCR6_HUMAN Down syndrome critical region protein 6 40 WRPW motif. nucleus breast(1) 1 Myeloproliferative disorder(46;0.0632) GCGCCGTGGCGACCTTGGATC 0.577 Colon(134;194 1731 2725 51652 51982) NA 5 41 0 0 0.001168 0 0 UMODL1 89766 broad.mit.edu 37 21 43529807 43529807 + Missense_Mutation SNP A A T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr21:43529807A>T uc002zaf.1 + 10 1655 c.1655A>T c.(1654-1656)GAG>GTG p.E552V UMODL1_uc002zad.1_Missense_Mutation_p.E480V|UMODL1_uc002zae.1_Missense_Mutation_p.E480V|UMODL1_uc002zag.1_Missense_Mutation_p.E552V|C21orf128_uc002zak.2_5'Flank NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 552 EGF-like 2; calcium-binding (Potential).|Extracellular (Potential). cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 CGGGCCTGTGAGGGTACGTGT 0.617 Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435) NA 15 23 0 0 0.007413 0 0 U2AF1 7307 broad.mit.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr21:44524456G>A uc002zda.1 - 2 185 c.101C>T c.(100-102)TCT>TTT p.S34F U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F NM_001025203 NP_001020374 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxillary factor 1 isoform 34 C3H1-type 1. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding 0 GTGCAACCGAGAGCACCTGTC 0.358 NA 7 29 0 0 0.001984 0 0 CRYAA 1409 broad.mit.edu 37 21 44589361 44589361 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr21:44589361C>T uc002zdd.1 + 1 221 c.152C>T c.(151-153)TCC>TTC p.S51F NM_000394 NP_000385 P02489 CRYAA_HUMAN crystallin, alpha A 51 anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception cytoplasm|nucleus structural constituent of eye lens|unfolded protein binding breast(1)|central_nervous_system(1) 2 TACCGCCAGTCCCTCTTCCGC 0.632 NA 9 177 0 0 0.001855 0 0 PCNT 5116 broad.mit.edu 37 21 47754527 47754527 + Missense_Mutation SNP A A G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr21:47754527A>G uc002zji.3 + 3 591 c.484A>G c.(484-486)AGT>GGT p.S162G PCNT_uc002zjj.2_Missense_Mutation_p.S44G|PCNT_uc010gqk.1_RNA NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 162 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GTTCACAGTCAGTGACCACCC 0.552 NA 3 95 0 0 0.000602 0 0 GNAZ 2781 broad.mit.edu 37 22 23438057 23438057 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr22:23438057G>T uc002zwu.1 + 2 712 c.175G>T c.(175-177)GGC>TGC p.G59C RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 59 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) CATCCACAGCGGCGGCTTCAA 0.602 NA 15 124 7.07596e-05 7.81257e-05 0.006122 1 0 AP1B1 162 broad.mit.edu 37 22 29726395 29726395 + Missense_Mutation SNP C C T rs142354304 byFrequency TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr22:29726395C>T uc003afj.2 - 21 2922 c.2738G>A c.(2737-2739)CGG>CAG p.R913Q AP1B1_uc003afi.2_Missense_Mutation_p.R906Q|AP1B1_uc003afk.2_Missense_Mutation_p.R906Q|AP1B1_uc003afl.2_Missense_Mutation_p.R886Q|AP1B1_uc003afh.2_Missense_Mutation_p.R110Q|AP1B1_uc011ako.1_Missense_Mutation_p.R466Q NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 913 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 CGGCTGGATCCGCAGCTCCGC 0.667 NA 5 36 0 0 0.001168 0 0 SLC5A4 6527 broad.mit.edu 37 22 32647853 32647853 + Silent SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr22:32647853G>T uc003ami.2 - 3 218 c.216C>A c.(214-216)GCC>GCA p.A72A NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 72 Helical; (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 CAAAGAGAGAGGCGCCCATCT 0.438 NA 27 21 1.06801e-11 1.31159e-11 0.009535 1 0 LARGE 9215 broad.mit.edu 37 22 33960945 33960945 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr22:33960945C>A uc003and.3 - 7 1255 c.676G>T c.(676-678)GTC>TTC p.V226F LARGE_uc011amd.1_Missense_Mutation_p.V25F|LARGE_uc003ane.3_Missense_Mutation_p.V226F|LARGE_uc010gwp.2_Missense_Mutation_p.V226F|LARGE_uc011ame.1_Missense_Mutation_p.V158F|LARGE_uc011amf.1_Missense_Mutation_p.V226F|LARGE_uc010gwq.1_RNA NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 226 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) TTGGTCAGGACAAGCTTCATC 0.483 Colon(70;397 1175 4573 19089 45288) NA 22 42 1.87028e-06 2.14623e-06 0.012319 1 0 C3orf20 84077 broad.mit.edu 37 3 14768449 14768449 + Missense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:14768449G>C uc003byy.2 + 11 2012 c.1608G>C c.(1606-1608)AAG>AAC p.K536N C3orf20_uc003byz.2_Missense_Mutation_p.K414N|C3orf20_uc003bza.2_Missense_Mutation_p.K414N|C3orf20_uc003bzb.1_Missense_Mutation_p.K37N NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 536 cytoplasm|integral to membrane ovary(3)|skin(1) 4 AGGTGTATAAGATGAGCCGAG 0.537 NA 5 45 0 0 0.000602 0 0 TRIM71 131405 broad.mit.edu 37 3 32932777 32932777 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:32932777G>A uc003cff.2 + 4 2144 c.2081G>A c.(2080-2082)GGA>GAA p.G694E NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN tripartite motif-containing 71 694 NHL 3. multicellular organismal development cytoplasm zinc ion binding ovary(2)|large_intestine(1) 3 GGTGAGAAAGGAACCAAGAAT 0.537 NA 4 20 0 0 0.000602 0 0 SCN5A 6331 broad.mit.edu 37 3 38595897 38595897 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:38595897C>T uc003cio.2 - 27 4880 c.4686G>A c.(4684-4686)AAG>AAA p.K1562K SCN5A_uc003cin.2_Silent_p.K1561K|SCN5A_uc003cil.3_Silent_p.K1562K|SCN5A_uc010hhi.2_Silent_p.K1544K|SCN5A_uc010hhk.2_Silent_p.K1561K|SCN5A_uc011ayr.1_Silent_p.K1508K NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1562 Helical; Name=S2 of repeat IV; (Potential). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GCAGGTTGATCTTGGCCAAGA 0.478 NA 9 86 0 0 0.010729 0 0 LZTFL1 54585 broad.mit.edu 37 3 45868857 45868857 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:45868857C>G uc003cox.1 - 9 1010 c.872G>C c.(871-873)AGA>ACA p.R291T LZTFL1_uc003coy.1_Missense_Mutation_p.R274T|LZTFL1_uc011bak.1_Intron NM_020347 NP_065080 Q9NQ48 LZTL1_HUMAN leucine zipper transcription factor-like 1 291 Potential. 0 BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) CTGTGCCAGTCTTTTCCTCAG 0.403 NA 5 45 0 0 0.000602 0 0 MAP4 4134 broad.mit.edu 37 3 47958144 47958144 + Silent SNP A A G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:47958144A>G uc003csb.2 - 7 1699 c.1173T>C c.(1171-1173)GCT>GCC p.A391A MAP4_uc003csc.3_Silent_p.A391A|MAP4_uc011bbf.1_Silent_p.A368A|MAP4_uc003csf.3_Silent_p.A408A NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 391 17 X 14 AA tandem repeats.|26 residues 2. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) CCTTGGAAGGAGCCAAGTCCA 0.443 NA 3 85 0 0 0.004672 0 0 MAP4 4134 broad.mit.edu 37 3 47958147 47958147 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:47958147C>T uc003csb.2 - 7 1696 c.1170G>A c.(1168-1170)TTG>TTA p.L390L MAP4_uc003csc.3_Silent_p.L390L|MAP4_uc011bbf.1_Silent_p.L367L|MAP4_uc003csf.3_Silent_p.L407L NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 390 17 X 14 AA tandem repeats.|26 residues 2. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGGAAGGAGCCAAGTCCATTT 0.448 NA 3 86 0 0 0.004672 0 0 GPX1 2876 broad.mit.edu 37 3 49395018 49395018 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:49395018C>T uc011bcl.1 - 3 495 c.415G>A c.(415-417)GAC>AAC p.D139N GPX1_uc011bcm.1_3'UTR NM_000581 NP_000572 P07203 GPX1_HUMAN glutathione peroxidase 1 isoform 1 139 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) GCGGTGGCGTCGTCGCTGGGA 0.632 NA 11 22 0 0 0.003163 0 0 NPRL2 10641 broad.mit.edu 37 3 50385968 50385968 + Missense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:50385968G>C uc003daj.1 - 7 1113 c.710C>G c.(709-711)TCC>TGC p.S237C ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc003dah.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|NPRL2_uc003dai.1_Missense_Mutation_p.S117C|CYB561D2_uc003dak.2_5'Flank|CYB561D2_uc003dal.2_5'Flank|CYB561D2_uc003dam.2_5'Flank NM_006545 NP_006536 Q8WTW4 NPRL2_HUMAN tumor suppressor candidate 4 237 negative regulation of kinase activity protein binding|protein kinase activity lung(1) 1 CTGGAGGATGGACACCAGTGT 0.582 NA 6 59 0 0 0.004482 0 0 PCNP 57092 broad.mit.edu 37 3 101311480 101311480 + Silent SNP A A G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:101311480A>G uc003dva.2 + 5 438 c.420A>G c.(418-420)CCA>CCG p.P140P PCNP_uc003dvb.2_RNA|PCNP_uc003dvc.2_RNA|PCNP_uc003dvd.2_Missense_Mutation_p.N122D NM_020357 NP_065090 Q8WW12 PCNP_HUMAN PEST proteolytic signal containing nuclear 140 cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination nucleus protein binding 0 GGGATACACCAACATCAGCTG 0.338 NA 13 29 0 0 0.00499 0 0 CCDC54 84692 broad.mit.edu 37 3 107096474 107096474 + Missense_Mutation SNP A A T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:107096474A>T uc003dwi.1 + 1 287 c.40A>T c.(40-42)AGG>TGG p.R14W NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 14 0 AGCTGCTGCTAGGCAGATGTG 0.408 NA 14 54 0 0 0.004007 0 0 PLXND1 23129 broad.mit.edu 37 3 129290552 129290552 + Missense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:129290552G>C uc003emx.2 - 16 3313 c.3213C>G c.(3211-3213)ATC>ATG p.I1071M NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1071 Extracellular (Potential).|IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 TGATGGCCGTGATGACCGGGT 0.667 Ovarian(97;366 1484 3738 22084 39045) NA 4 84 0 0 0.00308 0 0 PLXND1 23129 broad.mit.edu 37 3 129291746 129291746 + Nonsense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:129291746G>C uc003emx.2 - 14 2976 c.2876C>G c.(2875-2877)TCA>TGA p.S959* NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 959 IPT/TIG 1.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 CACCACACCTGAGAGTGGTCC 0.682 Ovarian(97;366 1484 3738 22084 39045) NA 4 32 0 0 0.001168 0 0 TF 7018 broad.mit.edu 37 3 133467266 133467266 + Silent SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:133467266G>T uc003epu.1 + 7 1782 c.54G>T c.(52-54)CTG>CTT p.L18L TF_uc011bls.1_Silent_p.L18L|TF_uc011blt.1_Intron|TF_uc003epw.1_Silent_p.L18L|TF_uc010htv.1_RNA|TF_uc003epv.1_Silent_p.L18L NM_001063 NP_001054 P02787 TRFE_HUMAN transferrin precursor 18 cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding ovary(1)|skin(1) 2 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) GGCTGTGTCTGGCTGTCCCTG 0.572 NA 16 22 5.03518e-11 6.09797e-11 0.007413 1 0 TXNDC6 347736 broad.mit.edu 37 3 138023810 138023810 + Silent SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:138023810G>T uc003esg.2 - 9 724 c.696C>A c.(694-696)CTC>CTA p.L232L TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Silent_p.L147L|TXNDC6_uc003ese.1_Silent_p.L171L NM_178130 NP_835231 Q86XW9 TXND6_HUMAN thioredoxin domain containing 6 232 NDK. cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity breast(3)|ovary(1)|pancreas(1) 5 CAGTCCTGGTGAGGATCAGGA 0.597 NA 12 141 4.36969e-10 5.23764e-10 0.001855 1 0 XRN1 54464 broad.mit.edu 37 3 142083991 142083991 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:142083991C>T uc003eus.2 - 29 3359 c.3292G>A c.(3292-3294)GAT>AAT p.D1098N XRN1_uc010huu.2_Missense_Mutation_p.D564N|XRN1_uc003eut.2_Missense_Mutation_p.D1098N|XRN1_uc003euu.2_Missense_Mutation_p.D1098N NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 1098 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 GCATCCCGATCAGGAATGACT 0.343 NA 4 34 0 0 0.000602 0 0 B3GALNT1 8706 broad.mit.edu 37 3 160804158 160804158 + Silent SNP A A G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:160804158A>G uc003fdv.2 - 5 804 c.385T>C c.(385-387)TTG>CTG p.L129L B3GALNT1_uc003fdw.2_Silent_p.L129L|B3GALNT1_uc003fdx.2_Silent_p.L129L|B3GALNT1_uc003fdy.2_Silent_p.L129L|B3GALNT1_uc003fdz.2_Silent_p.L129L|B3GALNT1_uc003fea.2_Silent_p.L129L|B3GALNT1_uc011bpa.1_Intron NM_033169 NP_149359 O75752 B3GL1_HUMAN UDP-Gal:betaGlcNAc beta 129 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity skin(1) 1 LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05) GACAATGCCAACATTTTGTCT 0.383 NA 6 56 0 0 0.001984 0 0 MYNN 55892 broad.mit.edu 37 3 169501310 169501310 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:169501310C>T uc003fft.2 + 6 1874 c.1445C>T c.(1444-1446)TCC>TTC p.S482F MYNN_uc011bpm.1_Missense_Mutation_p.S368F|MYNN_uc003ffu.2_Missense_Mutation_p.S482F|MYNN_uc003ffv.2_Missense_Mutation_p.S209F|MYNN_uc010hwo.2_Missense_Mutation_p.S482F|MYNN_uc003ffw.1_RNA NM_018657 NP_061127 Q9NPC7 MYNN_HUMAN myoneurin 482 C2H2-type 7. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) AGTTTTATTTCCTCAGGAGAG 0.328 NA 22 68 0 0 0.00632 0 0 PSMD2 5708 broad.mit.edu 37 3 184024551 184024551 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:184024551C>T uc003fnn.1 + 16 1996 c.1963C>T c.(1963-1965)CTG>TTG p.L655L PSMD2_uc011brj.1_Silent_p.L496L|PSMD2_uc011brk.1_Silent_p.L525L NM_002808 NP_002799 Q13200 PSMD2_HUMAN proteasome 26S non-ATPase subunit 2 655 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding 0 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) AGTGGCTGTTCTGGGGATTGC 0.443 Colon(24;313 636 6917 9932 15554) NA 36 82 0 0 0.009718 0 0 CHRD 8646 broad.mit.edu 37 3 184100663 184100663 + Missense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:184100663G>C uc003fov.2 + 9 1248 c.1002G>C c.(1000-1002)TTG>TTC p.L334F CHRD_uc003fow.2_Intron|CHRD_uc003fox.2_Missense_Mutation_p.L334F|CHRD_uc003foy.2_Intron|CHRD_uc010hyc.2_5'UTR|CHRD_uc011brr.1_5'UTR NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 334 CHRD 2. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGGTTCCCTTGAGGCTCCAGA 0.577 NA 4 10 0 0 0.009096 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186793407 186793407 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr3:186793407C>G uc003frb.2 + 8 1469 c.1037C>G c.(1036-1038)TCC>TGC p.S346C ST6GAL1_uc003frc.2_Missense_Mutation_p.S115C|ST6GAL1_uc003frd.2_Missense_Mutation_p.S346C NM_173216 NP_775323 P15907 SIAT1_HUMAN ST6 beta-galactosamide 346 Lumenal (Potential). humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1) 1 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) TTCCTCCCATCCAAGCGCAAG 0.522 NA 13 41 0 0 0.003163 0 0 ZNF718 255403 broad.mit.edu 37 4 154780 154780 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr4:154780G>T uc003fzt.3 + 8 438 c.305G>T c.(304-306)GGA>GTA p.G102V ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_5'UTR NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 102 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) ATACCAAAAGGACATGAGAAA 0.338 NA 5 20 2.0095e-06 2.29844e-06 0.001984 1 0 LGI2 55203 broad.mit.edu 37 4 25005381 25005381 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr4:25005381G>A uc003grf.2 - 8 1429 c.1330C>T c.(1330-1332)CGG>TGG p.R444W NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 444 EAR 5. extracellular region 0 Breast(46;0.173) CTCATGACCCGGGAGTCCCCG 0.522 NA 27 231 0 0 0.007291 0 0 GABRG1 2565 broad.mit.edu 37 4 46067491 46067491 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr4:46067491C>G uc003gxb.2 - 4 584 c.432G>C c.(430-432)TGG>TGC p.W144C NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 144 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGTCAGGAATCCAAATTTTTC 0.358 NA 10 17 0 0 0.006214 0 0 CORIN 10699 broad.mit.edu 37 4 47765548 47765548 + Silent SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr4:47765548C>A uc003gxm.2 - 4 558 c.465G>T c.(463-465)ACG>ACT p.T155T CORIN_uc011bzf.1_Silent_p.T16T|CORIN_uc011bzg.1_Silent_p.T88T|CORIN_uc011bzh.1_Silent_p.T155T|CORIN_uc011bzi.1_Silent_p.T155T|CORIN_uc003gxn.3_Silent_p.T155T NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 155 Extracellular (Potential).|FZ 1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 GAGGTGTCAGCGTGGCGTGGT 0.468 NA 19 89 1.96895e-08 2.29711e-08 0.00278 1 0 PDGFRA 5156 broad.mit.edu 37 4 55161414 55161414 + Missense_Mutation SNP A A G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr4:55161414A>G uc003han.3 + 23 3576 c.3245A>G c.(3244-3246)GAC>GGC p.D1082G PDGFRA_uc003haa.2_Missense_Mutation_p.D842G NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 1082 Ser-rich.|Cytoplasmic (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GACTCTTCAGACCTGGTGGAA 0.512 Pancreas(151;208 1913 7310 23853 37092) NA Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 12 95 0 0 0.00245 0 0 EPHA5 2044 broad.mit.edu 37 4 66509083 66509083 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr4:66509083C>G uc003hcy.2 - 2 437 c.244G>C c.(244-246)GGG>CGG p.G82R EPHA5_uc003hcx.2_Missense_Mutation_p.G13R|EPHA5_uc003hcz.2_Missense_Mutation_p.G82R|EPHA5_uc011cah.1_Missense_Mutation_p.G82R|EPHA5_uc011cai.1_Missense_Mutation_p.G82R|EPHA5_uc003hda.2_Missense_Mutation_p.G82R NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 82 Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 AAACTTACCCCATTTTTTGGA 0.343 NA TSP Lung(17;0.13) 6 20 0 0 0.004482 0 0 SEC24D 9871 broad.mit.edu 37 4 119665242 119665242 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr4:119665242C>T uc003ici.3 - 15 2168 c.1896G>A c.(1894-1896)GTG>GTA p.V632V SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Silent_p.V633V|SEC24D_uc003icl.2_RNA NM_014822 NP_055637 O94855 SC24D_HUMAN Sec24-related protein D 632 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 GGAAGAGTGTCACAGAGCAGC 0.473 NA 3 50 0 0 0.009096 0 0 NEK1 4750 broad.mit.edu 37 4 170477147 170477147 + Nonsense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr4:170477147G>A uc003isb.1 - 16 1858 c.1366C>T c.(1366-1368)CAA>TAA p.Q456* NEK1_uc003isc.1_Nonsense_Mutation_p.Q456*|NEK1_uc003isd.1_Nonsense_Mutation_p.Q456*|NEK1_uc003ise.1_Nonsense_Mutation_p.Q456*|NEK1_uc003isf.1_Nonsense_Mutation_p.Q431*|NEK1_uc003isg.1_Nonsense_Mutation_p.Q377* NM_012224 NP_036356 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 456 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(3)|ovary(2)|large_intestine(1) 6 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) TCTGCTCTTTGTTGCTGCATT 0.418 NA 3 13 0 0 0.004672 0 0 IRX2 153572 broad.mit.edu 37 5 2747711 2747711 + Silent SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:2747711G>A uc003jda.2 - 4 1625 c.1383C>T c.(1381-1383)ACC>ACT p.T461T IRX2_uc003jdb.2_Silent_p.T461T NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 461 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) CGCCAACCACGGTGCAGCCCT 0.652 NA 3 91 0 0 0.004672 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5239860 5239860 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:5239860C>G uc003jdl.2 + 16 2483 c.2345C>G c.(2344-2346)TCT>TGT p.S782C ADAMTS16_uc003jdk.1_Missense_Mutation_p.S782C NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 782 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 ATGAACGTCTCTACCTCCTAC 0.493 NA 6 103 0 0 0.004482 0 0 FASTKD3 79072 broad.mit.edu 37 5 7863072 7863072 + Missense_Mutation SNP A A T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:7863072A>T uc003jeb.2 - 4 1700 c.1563T>A c.(1561-1563)TTT>TTA p.F521L FASTKD3_uc011cmp.1_Missense_Mutation_p.F223L|FASTKD3_uc003jec.2_RNA NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 521 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 ATGGGGTAAGAAATGACTTCA 0.353 NA 12 196 0 0 0.004007 0 0 DNAH5 1767 broad.mit.edu 37 5 13809157 13809157 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:13809157C>A uc003jfd.2 - 46 7790 c.7748G>T c.(7747-7749)GGC>GTC p.G2583V NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2583 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TCATACCTTGCCCTGTTTAGC 0.338 NA Kartagener_syndrome 11 85 0.000978159 0.00104059 0.010729 1 0 PRDM9 56979 broad.mit.edu 37 5 23527693 23527693 + Silent SNP T T C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:23527693T>C uc003jgo.2 + 11 2678 c.2496T>C c.(2494-2496)TAT>TAC p.Y832Y NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 832 C2H2-type 13. 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 AGAAGCCCTATGTCTGCAGGG 0.587 NA HNSCC(3;0.000094) 7 178 0 0 0.004482 0 0 CDH9 1007 broad.mit.edu 37 5 26906068 26906068 + Missense_Mutation SNP T T A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:26906068T>A uc003jgs.1 - 5 980 c.811A>T c.(811-813)AGT>TGT p.S271C CDH9_uc010iug.2_Missense_Mutation_p.S271C NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 271 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CATTTCTTACTCTGGGGAAAT 0.433 Melanoma(8;187 585 15745 40864 52829) NA 42 144 0 0 0.01441 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41004595 41004595 + Silent SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:41004595G>T uc003jmj.3 - 37 4537 c.4047C>A c.(4045-4047)ATC>ATA p.I1349I HEATR7B2_uc003jmi.3_Silent_p.I904I NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1349 binding ovary(6)|central_nervous_system(2) 8 GGCCTCTGATGATAGATTCTA 0.423 NA 21 13 2.27731e-05 2.55467e-05 0.012319 1 0 C6 729 broad.mit.edu 37 5 41176734 41176734 + Silent SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:41176734G>C uc003jmk.2 - 8 1221 c.1011C>G c.(1009-1011)GTC>GTG p.V337V C6_uc003jml.1_Silent_p.V337V NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 337 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CTTTCAAAAAGACATCAGAAA 0.383 NA 6 66 0 0 0.00308 0 0 MEF2C 4208 broad.mit.edu 37 5 88018598 88018598 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:88018598C>A uc003kjj.2 - 11 1918 c.1245G>T c.(1243-1245)GAG>GAT p.E415D MEF2C_uc003kji.2_Missense_Mutation_p.E407D|MEF2C_uc003kjk.2_Missense_Mutation_p.E415D|MEF2C_uc003kjm.2_Missense_Mutation_p.E405D|MEF2C_uc003kjl.2_Missense_Mutation_p.E425D NM_002397 NP_002388 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C isoform 1 415 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(3)|breast(2)|ovary(1)|large_intestine(1) 7 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) ATCTCCCCGCCTCGTGGCGCG 0.562 NA HNSCC(66;0.2) 14 40 3.45872e-05 3.85526e-05 0.004007 1 0 POLR3G 10622 broad.mit.edu 37 5 89781433 89781433 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:89781433G>A uc003kjq.2 + 2 249 c.49G>A c.(49-51)GAG>AAG p.E17K POLR3G_uc011cuc.1_Missense_Mutation_p.E17K NM_006467 NP_006458 O15318 RPC7_HUMAN polymerase (RNA) III (DNA directed) polypeptide 17 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA-directed RNA polymerase activity 0 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22) CTTTAATATTGAGGCTGTTGG 0.398 NA 3 60 0 0 0.009096 0 0 PCDHA7 56141 broad.mit.edu 37 5 140216127 140216127 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:140216127C>T uc003lhq.2 + 1 2159 c.2159C>T c.(2158-2160)GCG>GTG p.A720V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A720V NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 720 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGTACACGGCGTTGCGGTGC 0.617 NSCLC(160;258 2013 5070 22440 28951) NA 28 45 0 0 0.009535 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256768 140256768 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:140256768G>A uc003lic.2 + 1 1838 c.1711G>A c.(1711-1713)GGC>AGC p.G571S 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.G571S NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 571 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) GACTCCGGCTGGCAGCGCAGG 0.697 Pancreas(113;759 1672 13322 24104 50104) NA 19 76 0 0 0.00333 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140754648 140754648 + Missense_Mutation SNP T T A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:140754648T>A uc003ljy.1 + 1 998 c.998T>A c.(997-999)GTC>GAC p.V333D PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.V333D NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 333 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGCGAAAGTCTTAATAACT 0.433 NA 48 103 0 0 0.01441 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140812657 140812657 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:140812657C>G uc003lkt.1 + 1 2500 c.2331C>G c.(2329-2331)GAC>GAG p.D777E PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.D777E NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 777 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTATGCAGACATGCTCGTCA 0.522 NA 11 127 0 0 0.013537 0 0 PDGFRB 5159 broad.mit.edu 37 5 149513572 149513572 + Splice_Site SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:149513572C>A uc003lro.2 - 5 1101 c.632_splice c.e5-1 p.V211_splice PDGFRB_uc010jhd.2_Splice_Site_p.V50_splice|PDGFRB_uc011dcg.1_Splice_Site_p.V211_splice NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) ATGGATGACACTGGTAGAGAG 0.542 NA T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML 13 74 3.45872e-05 3.85526e-05 0.004007 1 0 FAM71B 153745 broad.mit.edu 37 5 156589685 156589685 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:156589685C>A uc003lwn.2 - 2 1691 c.1591G>T c.(1591-1593)GCC>TCC p.A531S NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 531 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATCTTACTGGCTTTCTTTTGT 0.473 NA 3 21 0.004672 0.00485223 0.004672 1 0 ITK 3702 broad.mit.edu 37 5 156670710 156670710 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:156670710G>T uc003lwo.1 + 12 1220 c.1138G>T c.(1138-1140)GGC>TGC p.G380C NM_005546 NP_005537 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 380 Protein kinase. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1) 26 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGTGCATCTGGGCTACTGGCT 0.498 Esophageal Squamous(70;1378 1469 8785 19883) NA T SYK peripheral T-cell lymphoma 17 68 1.22574e-08 1.43481e-08 0.014323 1 0 CYFIP2 26999 broad.mit.edu 37 5 156712415 156712415 + Missense_Mutation SNP A A C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:156712415A>C uc003lwq.2 + 2 182 c.44A>C c.(43-45)GAC>GCC p.D15A CYFIP2_uc011ddn.1_Missense_Mutation_p.D15A|CYFIP2_uc011ddo.1_Missense_Mutation_p.D15A|CYFIP2_uc003lwr.2_Missense_Mutation_p.D15A|CYFIP2_uc003lws.2_Missense_Mutation_p.D15A|CYFIP2_uc003lwp.2_5'UTR NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 15 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) TCCAACGTGGACCTGCTTGAA 0.542 NA 4 10 0 0 0.001168 0 0 UNC5A 90249 broad.mit.edu 37 5 176300975 176300975 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr5:176300975C>G uc003mey.2 + 7 1085 c.893C>G c.(892-894)TCT>TGT p.S298C UNC5A_uc010jkg.1_Missense_Mutation_p.S258C NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 298 Extracellular (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCAGCTGCTTCTGGCCCTGAG 0.627 NA 8 46 0 0 0.010729 0 0 DSP 1832 broad.mit.edu 37 6 7568679 7568679 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr6:7568679G>A uc003mxp.1 + 11 1555 c.1276G>A c.(1276-1278)GAG>AAG p.E426K DSP_uc003mxq.1_Missense_Mutation_p.E426K NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 426 Globular 1.|Spectrin 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAAAGAACGAGAGAAAATCCT 0.383 NA 3 46 0 0 0.004672 0 0 SYCP2L 221711 broad.mit.edu 37 6 10902949 10902949 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr6:10902949G>A uc003mzo.2 + 7 802 c.506G>A c.(505-507)GGA>GAA p.G169E SYCP2L_uc011din.1_Missense_Mutation_p.G10E|SYCP2L_uc010jow.2_5'UTR NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 169 nucleus ovary(1)|skin(1) 2 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) CTTAGCTTAGGATTCCTGGTG 0.358 NA 11 19 0 0 0.013537 0 0 JARID2 3720 broad.mit.edu 37 6 15511564 15511564 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr6:15511564G>A uc003nbj.2 + 13 3128 c.2884G>A c.(2884-2886)GAT>AAT p.D962N JARID2_uc011div.1_Missense_Mutation_p.D790N NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 962 JmjC. central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CAAGCTGGAAGATGTGGTCCA 0.567 NA 12 95 0 0 0.006122 0 0 TRIM31 11074 broad.mit.edu 37 6 30078327 30078327 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr6:30078327C>T uc003npg.1 - 4 752 c.642G>A c.(640-642)GGG>GGA p.G214G TRIM31_uc003npi.3_RNA NM_007028 NP_008959 Q9BZY9 TRI31_HUMAN tripartite motif protein 31 214 mitochondrion ligase activity|zinc ion binding lung(1) 1 CATAGTGTTTCCCCGCTTCCG 0.512 NA 10 112 0 0 0.001855 0 0 EHMT2 10919 broad.mit.edu 37 6 31855433 31855433 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr6:31855433C>T uc003nxz.1 - 15 1942 c.1932G>A c.(1930-1932)CGG>CGA p.R644R EHMT2_uc003nxv.1_5'Flank|EHMT2_uc003nxw.1_5'Flank|EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.R435R|EHMT2_uc011don.1_Silent_p.R667R|EHMT2_uc003nya.1_Silent_p.R610R NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 644 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 GGAGCTTCTTCCGCCTGCCAA 0.592 NA 5 80 0 0 0.001168 0 0 TDRD6 221400 broad.mit.edu 37 6 46659781 46659781 + Nonsense_Mutation SNP A A T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr6:46659781A>T uc003oyj.2 + 1 3916 c.3916A>T c.(3916-3918)AAA>TAA p.K1306* TDRD6_uc010jze.2_Nonsense_Mutation_p.K1300* NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1306 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) GCCTGGATTTAAAACAACTGT 0.323 NA 8 10 0 0 0.006214 0 0 GPR115 221393 broad.mit.edu 37 6 47675035 47675035 + Silent SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr6:47675035C>A uc003oza.1 + 2 312 c.54C>A c.(52-54)TCC>TCA p.S18S GPR115_uc003oyz.1_Intron|GPR115_uc003ozb.1_Silent_p.S16S NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 18 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 TCTTTCTGTCCACAGAATGTT 0.423 GBM(22;431 510 9010 26644 32828) NA 13 47 4.35082e-09 5.16199e-09 0.010504 1 0 COL9A1 1297 broad.mit.edu 37 6 70993463 70993463 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr6:70993463G>T uc003pfg.3 - 6 916 c.757C>A c.(757-759)CAT>AAT p.H253N COL9A1_uc003pff.3_5'Flank NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 253 Nonhelical region (NC4). Zinc. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 GGCAGCTCATGGCAAGTTTCT 0.522 NA 5 15 0.00198382 0.00209137 0.001984 1 0 SH3BGRL2 83699 broad.mit.edu 37 6 80383466 80383466 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr6:80383466C>A uc003piz.1 + 2 360 c.181C>A c.(181-183)CAG>AAG p.Q61K NM_031469 NP_113657 Q9UJC5 SH3L2_HUMAN SH3 domain binding glutamic acid-rich protein 61 SH3-binding (Potential). nucleus SH3 domain binding 0 all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174) BRCA - Breast invasive adenocarcinoma(397;0.0278) GAAACCCACTCAGGGCAACCC 0.458 NA 7 68 0.00307968 0.00321758 0.00308 1 0 GPRC6A 222545 broad.mit.edu 37 6 117113821 117113821 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr6:117113821C>G uc003pxj.1 - 6 2287 c.2265G>C c.(2263-2265)ATG>ATC p.M755I GPRC6A_uc003pxk.1_Missense_Mutation_p.M580I|GPRC6A_uc003pxl.1_Missense_Mutation_p.M684I NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 755 Helical; Name=5; (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TGTAGCCCAGCATGGTGCCAA 0.448 NA 9 20 0 0 0.013537 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151130291 151130291 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr6:151130291C>T uc003qny.1 + 9 1275 c.963C>T c.(961-963)TAC>TAT p.Y321Y PLEKHG1_uc011eel.1_Silent_p.Y361Y|PLEKHG1_uc011eem.1_Silent_p.Y380Y|PLEKHG1_uc003qnz.2_Silent_p.Y321Y NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 321 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) TGACCAGCTACGGGGAACTGG 0.557 NA 9 49 0 0 0.006214 0 0 SNX9 51429 broad.mit.edu 37 6 158358492 158358492 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr6:158358492G>A uc003qqv.1 + 15 1643 c.1470G>A c.(1468-1470)ATG>ATA p.M490I NM_016224 NP_057308 Q9Y5X1 SNX9_HUMAN sorting nexin 9 490 BAR. cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) ATTTCCTGATGGAATGTAATC 0.383 NA 9 99 0 0 0.010729 0 0 CCR6 1235 broad.mit.edu 37 6 167549755 167549755 + Missense_Mutation SNP G G T rs145768514 TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr6:167549755G>T uc003qvl.2 + 13 2513 c.37G>T c.(37-39)GAC>TAC p.D13Y CCR6_uc010kkm.2_Missense_Mutation_p.D13Y|CCR6_uc003qvn.3_Missense_Mutation_p.D13Y|CCR6_uc003qvm.3_Missense_Mutation_p.D13Y NM_031409 NP_113597 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 13 Extracellular (Potential). cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity ovary(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) CGATGTTTTCGACTCCAGTGA 0.413 NA 39 49 9.84934e-19 1.30086e-18 0.010771 1 0 THBS2 7058 broad.mit.edu 37 6 169620303 169620303 + Silent SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr6:169620303G>A uc003qwt.2 - 22 3749 c.3501C>T c.(3499-3501)TAC>TAT p.Y1167Y NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 1167 TSP C-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CTCTGCATTCGTACTTGAGGT 0.512 Esophageal Squamous(91;219 1934 18562 44706) NA 59 58 0 0 0.01441 0 0 AGR3 155465 broad.mit.edu 37 7 16900125 16900125 + Silent SNP T T A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:16900125T>A uc003sts.2 - 7 523 c.450A>T c.(448-450)CTA>CTT p.L150L NM_176813 NP_789783 Q8TD06 AGR3_HUMAN breast cancer membrane protein 11 precursor 150 extracellular region 0 Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) AATACTTACATAGGGGTAAAT 0.423 NA 17 51 0 0 0.012319 0 0 AHR 196 broad.mit.edu 37 7 17369593 17369593 + Missense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:17369593G>C uc011jxz.1 + 5 1081 c.468G>C c.(466-468)CAG>CAC p.Q156H AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 156 PAS 1. apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) TCATACATCAGAGTGTATATG 0.348 NA 4 13 0 0 0.009096 0 0 TBX20 57057 broad.mit.edu 37 7 35289601 35289601 + Missense_Mutation SNP A A T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:35289601A>T uc011kas.1 - 2 353 c.342T>A c.(340-342)CAT>CAA p.H114Q NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN T-box transcription factor TBX20 114 T-box. nucleus DNA binding central_nervous_system(1) 1 TGCCCAGCTCATGGAATTTGT 0.582 NA 16 63 0 0 0.010504 0 0 KIAA0895 23366 broad.mit.edu 37 7 36396957 36396957 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:36396957G>A uc003tfd.2 - 3 472 c.421C>T c.(421-423)CCT>TCT p.P141S KIAA0895_uc003tfc.2_Missense_Mutation_p.P128S|KIAA0895_uc011kaw.1_5'UTR|KIAA0895_uc003tfb.2_Missense_Mutation_p.P90S|KIAA0895_uc011kax.1_Missense_Mutation_p.P90S|KIAA0895_uc003tfe.2_Missense_Mutation_p.P128S|KIAA0895_uc011kay.1_Missense_Mutation_p.P90S NM_001100425 NP_001093895 Q8NCT3 K0895_HUMAN hypothetical protein LOC23366 isoform 1 141 0 GAAGTGTTAGGAGATTTGCTG 0.463 NA 13 14 0 0 0.00245 0 0 VWC2 375567 broad.mit.edu 37 7 49815691 49815692 + Missense_Mutation DNP CC CC AA TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:49815691_49815692CC>AA uc003tot.1 + 2 1216_1217 c.660_661CC>AA c.(658-663)TTCCGG>TTAAGG p.F220L NM_198570 NP_940972 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 220 VWFC 2. negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space 0 ACTGCGAGTTCCGGGGCAAGAC 0.629 NA 3 7 0 0 0.004672 0 0 ZNF479 90827 broad.mit.edu 37 7 57187809 57187809 + Missense_Mutation SNP T T G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:57187809T>G uc010kzo.2 - 5 1584 c.1313A>C c.(1312-1314)AAA>ACA p.K438T NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 438 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TTCTTCACATTTGTAGGGTCT 0.453 NA 4 64 0 0 0.000602 0 0 RFC2 5982 broad.mit.edu 37 7 73663380 73663380 + Silent SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:73663380G>C uc003uaj.2 - 4 319 c.294C>G c.(292-294)CTC>CTG p.L98L RFC2_uc011kfa.1_RNA|RFC2_uc003uak.2_Silent_p.L98L|RFC2_uc010lbp.2_Silent_p.L61L|RFC2_uc003ual.2_5'UTR NM_181471 NP_852136 P35250 RFC2_HUMAN replication factor C 2 isoform 1 98 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding liver(1)|central_nervous_system(1) 2 TGGCATCTTTGAGTGCTGGGC 0.527 NA 3 70 0 0 0.004672 0 0 ANKIB1 54467 broad.mit.edu 37 7 92027106 92027106 + Missense_Mutation SNP T T A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:92027106T>A uc003ulw.2 + 19 2841 c.2465T>A c.(2464-2466)GTG>GAG p.V822E ANKIB1_uc010lew.1_Missense_Mutation_p.V91E NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 822 protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCTATGAGTGTGCTGCACAGC 0.527 NA 3 149 0 0 0.004672 0 0 MUC17 140453 broad.mit.edu 37 7 100682585 100682585 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:100682585G>A uc003uxp.1 + 3 7941 c.7888G>A c.(7888-7890)GAA>AAA p.E2630K MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2630 Extracellular (Potential).|59 X approximate tandem repeats.|42.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AACTCCTAGTGAAGTAAGTAC 0.458 NA 24 196 0 0 0.00632 0 0 MUC17 140453 broad.mit.edu 37 7 100684763 100684763 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:100684763G>A uc003uxp.1 + 3 10119 c.10066G>A c.(10066-10068)GAG>AAG p.E3356K MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3356 Extracellular (Potential).|54.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GGTCAGTTCTGAGGCTAGCAC 0.483 NA 13 315 0 0 0.00245 0 0 HYAL4 23553 broad.mit.edu 37 7 123516999 123516999 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:123516999C>T uc003vlc.2 + 5 1874 c.1236C>T c.(1234-1236)GAC>GAT p.D412D HYAL4_uc011knz.1_3'UTR NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 412 Extracellular (Potential). fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity skin(1) 1 CCTCTGAGGACGGGGAGTTTA 0.478 NA 5 46 0 0 0.000602 0 0 GRM8 2918 broad.mit.edu 37 7 126410032 126410032 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:126410032G>A uc003vlr.2 - 6 1555 c.1244C>T c.(1243-1245)GCC>GTC p.A415V GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.A415V|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.A136V NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 415 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) ATTGTGCAGGGCGTAAGCCAT 0.438 NA HNSCC(24;0.065) 6 40 0 0 0.001168 0 0 AKR1B10 57016 broad.mit.edu 37 7 134216764 134216764 + Silent SNP A A G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:134216764A>G uc003vrr.2 + 3 659 c.339A>G c.(337-339)CCA>CCG p.P113P NM_020299 NP_064695 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 113 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding skin(5) 5 TTCACTGGCCACAGGGATTCA 0.507 NA 5 78 0 0 0.001168 0 0 DGKI 9162 broad.mit.edu 37 7 137172408 137172408 + Missense_Mutation SNP C C A rs148779791 TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:137172408C>A uc003vtt.2 - 23 2331 c.2330G>T c.(2329-2331)CGT>CTT p.R777L DGKI_uc003vtu.2_Missense_Mutation_p.R477L NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 777 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 ACAGTCTCCACGCACAACTAG 0.368 NA 39 109 1.83081e-24 2.45511e-24 0.01441 1 0 EPHA1 2041 broad.mit.edu 37 7 143096797 143096797 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:143096797C>A uc003wcz.2 - 4 869 c.782G>T c.(781-783)CGG>CTG p.R261L NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 261 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) ACAGTGGCACCGTCCTACAGG 0.657 NA 16 52 3.57192e-18 4.6999e-18 0.006122 1 0 TAS2R41 259287 broad.mit.edu 37 7 143175698 143175698 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:143175698C>G uc003wdc.1 + 1 733 c.733C>G c.(733-735)CTG>GTG p.L245V uc003wda.2_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN taste receptor, type 2, member 41 245 Helical; Name=6; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity pancreas(1)|skin(1) 2 Melanoma(164;0.15) TCTTTATGCTCTGTCCTTTCT 0.502 NA 6 57 0 0 0.00308 0 0 ZNF862 643641 broad.mit.edu 37 7 149557595 149557595 + Missense_Mutation SNP A A G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:149557595A>G uc010lpn.2 + 7 1538 c.1346A>G c.(1345-1347)GAA>GGA p.E449G ZNF862_uc003wgm.2_RNA NM_001099220 NP_001092690 O60290 ZN862_HUMAN zinc finger protein 862 449 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity skin(1) 1 ATTTGTGAGGAAGGAGATGGA 0.567 NA 26 59 0 0 0.007291 0 0 KCNH2 3757 broad.mit.edu 37 7 150643967 150643967 + Missense_Mutation SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:150643967G>C uc003wic.2 - 14 3341 c.3328C>G c.(3328-3330)CAG>GAG p.Q1110E KCNH2_uc003wib.2_Missense_Mutation_p.Q770E|KCNH2_uc011kux.1_Missense_Mutation_p.Q1014E NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 1110 Cytoplasmic (Potential). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GAGCTTACCTGAGAAAGCGAG 0.642 GBM(137;110 1844 13671 20123 45161) NA 7 64 0 0 0.00308 0 0 RP1L1 94137 broad.mit.edu 37 8 10470721 10470721 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr8:10470721G>A uc003wtc.2 - 4 1116 c.887C>T c.(886-888)ACG>ATG p.T296M NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 296 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CTGAGCTGGCGTGTCCTGAGG 0.657 NA 14 45 0 0 0.00245 0 0 HOOK3 84376 broad.mit.edu 37 8 42841831 42841831 + Silent SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr8:42841831G>A uc003xpr.2 + 15 1667 c.1425G>A c.(1423-1425)AAG>AAA p.K475K HOOK3_uc010lxq.1_Silent_p.K475K NM_032410 NP_115786 Q86VS8 HOOK3_HUMAN golgi-associated microtubule-binding protein 475 Potential. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding ovary(1)|breast(1) 2 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) ATGAGAATAAGATGTTAAAGC 0.343 NA T RET papillary thyroid 4 34 0 0 0.000602 0 0 SNAI2 6591 broad.mit.edu 37 8 49832849 49832849 + Silent SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr8:49832849G>A uc003xqp.2 - 2 395 c.231C>T c.(229-231)TCC>TCT p.S77S NM_003068 NP_003059 O43623 SNAI2_HUMAN snail 2 77 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) AGGAGTATCCGGAAAGAGGAG 0.567 NA 6 66 0 0 0.001168 0 0 PXDNL 137902 broad.mit.edu 37 8 52320897 52320897 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr8:52320897C>A uc003xqu.3 - 17 3388 c.3287G>T c.(3286-3288)GGG>GTG p.G1096V PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1096 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CGGGTCTATCCCACCTTCCTT 0.547 NA 11 30 1.41608e-15 1.82216e-15 0.001855 1 0 CLVS1 157807 broad.mit.edu 37 8 62371093 62371093 + Silent SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr8:62371093G>T uc003xuh.2 + 5 1293 c.969G>T c.(967-969)CTG>CTT p.L323L CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Intron NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 323 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 CACCCAAGCTGATGAAAAGGT 0.433 NA 5 8 1.26484e-09 1.51091e-09 0.00308 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885555 88885555 + Silent SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr8:88885555C>A uc003ydz.2 - 1 742 c.645G>T c.(643-645)ACG>ACT p.T215T NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 215 ovary(1) 1 GCTGGTGTCCCGTCACCACGT 0.542 NA 24 130 2.48779e-11 3.0339e-11 0.005443 1 0 RBM12B 389677 broad.mit.edu 37 8 94746552 94746552 + Missense_Mutation SNP T T G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr8:94746552T>G uc003yfz.2 - 3 2280 c.2087A>C c.(2086-2088)GAG>GCG p.E696A NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 696 nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GAAGTCATCCTCGGGTGGTCG 0.627 NA 47 141 0 0 0.01441 0 0 TMEM67 91147 broad.mit.edu 37 8 94807657 94807657 + Silent SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr8:94807657G>T uc011lgk.1 + 17 1766 c.1695G>T c.(1693-1695)GTG>GTT p.V565V TMEM67_uc010maw.2_Silent_p.V271V|TMEM67_uc003yga.3_Silent_p.V484V|TMEM67_uc011lgl.1_5'UTR NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN meckelin isoform 1 565 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding ovary(2) 2 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) AATTCTTGGTGTACTATGCTG 0.343 NA 27 67 2.09667e-21 2.79024e-21 0.003755 1 0 MTERFD1 51001 broad.mit.edu 37 8 97270789 97270789 + Nonsense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr8:97270789G>A uc003yhs.1 - 2 208 c.130C>T c.(130-132)CAG>TAG p.Q44* MTERFD1_uc003yhr.1_5'Flank|MTERFD1_uc010mbd.1_Nonsense_Mutation_p.Q44* NM_015942 NP_057026 Q96E29 MTER1_HUMAN MTERF domain containing 1 precursor 44 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding ovary(1) 1 Breast(36;5.16e-05) ATCTGAGGCTGAGCAGAAAAG 0.423 NA 8 93 0 0 0.004482 0 0 KLHL38 340359 broad.mit.edu 37 8 124663831 124663831 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr8:124663831C>A uc003yqs.1 - 1 1360 c.1336G>T c.(1336-1338)GTG>TTG p.V446L NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN kelch-like 38 446 Kelch 4. 0 ATAAGGCGCACAGGGTTCTGC 0.537 NA 36 59 3.4345e-17 4.46868e-17 0.011902 1 0 NDUFB9 4715 broad.mit.edu 37 8 125562071 125562071 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr8:125562071G>A uc003yrg.3 + 4 563 c.478G>A c.(478-480)GAA>AAA p.E160K NDUFB9_uc011lim.1_Intron NM_005005 NP_004996 Q9Y6M9 NDUB9_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 160 mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity ovary(1)|skin(1) 2 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) NADH(DB00157) TGCCCGAAAGGAAGGTGATTT 0.522 NA 7 47 0 0 0.004482 0 0 MTSS1 9788 broad.mit.edu 37 8 125565305 125565305 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr8:125565305C>T uc003yrk.2 - 14 2730 c.2196G>A c.(2194-2196)CTG>CTA p.L732L NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Silent_p.L381L|MTSS1_uc011lin.1_Silent_p.L506L|MTSS1_uc011lio.1_Silent_p.L622L|MTSS1_uc003yri.2_Silent_p.L450L|MTSS1_uc003yrj.2_Silent_p.L707L|MTSS1_uc003yrl.2_Silent_p.L736L NM_014751 NP_055566 O43312 MTSS1_HUMAN metastasis suppressor 1 732 WH2. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding ovary(1) 1 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GGATGGCGTTCAGCATGTCTT 0.562 Esophageal Squamous(160;622 1893 3862 8546 12509) NA 11 149 0 0 0.001855 0 0 MTSS1 9788 broad.mit.edu 37 8 125565318 125565318 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr8:125565318C>T uc003yrk.2 - 14 2717 c.2183G>A c.(2182-2184)GGA>GAA p.G728E NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.G377E|MTSS1_uc011lin.1_Missense_Mutation_p.G502E|MTSS1_uc011lio.1_Missense_Mutation_p.G618E|MTSS1_uc003yri.2_Missense_Mutation_p.G446E|MTSS1_uc003yrj.2_Missense_Mutation_p.G703E|MTSS1_uc003yrl.2_Missense_Mutation_p.G732E NM_014751 NP_055566 O43312 MTSS1_HUMAN metastasis suppressor 1 728 WH2. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding ovary(1) 1 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CATGTCTTCTCCTTGTGGAGT 0.557 Esophageal Squamous(160;622 1893 3862 8546 12509) NA 11 168 0 0 0.013537 0 0 ASAP1 50807 broad.mit.edu 37 8 131072883 131072883 + Missense_Mutation SNP T T C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr8:131072883T>C uc003yta.1 - 27 3162 c.3134A>G c.(3133-3135)AAC>AGC p.N1045S ASAP1_uc003ysz.1_Missense_Mutation_p.N856S|ASAP1_uc011liw.1_Missense_Mutation_p.N1038S NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 1045 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 CGTGAGGTCGTTGGAGTCTTC 0.537 NA 42 73 0 0 0.011902 0 0 ASAP1 50807 broad.mit.edu 37 8 131130783 131130783 + Silent SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr8:131130783G>C uc003yta.1 - 18 1774 c.1746C>G c.(1744-1746)GTC>GTG p.V582V ASAP1_uc003ysz.1_Silent_p.V393V|ASAP1_uc011liw.1_Silent_p.V575V NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 582 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 CTTCTGCATAGACTTGAATTA 0.398 NA 34 37 0 0 0.009718 0 0 CYP11B1 1584 broad.mit.edu 37 8 143960993 143960993 + Silent SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr8:143960993G>A uc003yxi.2 - 1 244 c.237C>T c.(235-237)TTC>TTT p.F79F CYP11B1_uc003yxj.2_Silent_p.F79F|CYP11B1_uc010mey.2_Silent_p.F79F NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 79 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GGCTTTACCTGAAAATGGGCC 0.627 NA Familial_Hyperaldosteronism_type_I 3 69 0 0 0.004672 0 0 JAK2 3717 broad.mit.edu 37 9 5044417 5044417 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr9:5044417G>T uc010mhm.2 + 4 478 c.365G>T c.(364-366)CGT>CTT p.R122L JAK2_uc003ziw.2_Missense_Mutation_p.R122L NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 122 Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) TACTTTCCTCGTTGGTATTGC 0.393 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial 15 40 4.14922e-12 5.14974e-12 0.004007 1 0 PTPRD 5789 broad.mit.edu 37 9 8341727 8341727 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr9:8341727C>G uc003zkk.2 - 39 5624 c.4913G>C c.(4912-4914)GGA>GCA p.G1638A PTPRD_uc003zkp.2_Missense_Mutation_p.G1232A|PTPRD_uc003zkq.2_Missense_Mutation_p.G1231A|PTPRD_uc003zkr.2_Missense_Mutation_p.G1222A|PTPRD_uc003zks.2_Missense_Mutation_p.G1231A|PTPRD_uc003zkl.2_Missense_Mutation_p.G1629A|PTPRD_uc003zkm.2_Missense_Mutation_p.G1625A|PTPRD_uc003zkn.2_Missense_Mutation_p.G1227A|PTPRD_uc003zko.2_Missense_Mutation_p.G1228A NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1638 Cytoplasmic (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GACATTCTCTCCCGTTTCTAT 0.433 NA TSP Lung(15;0.13) 31 94 0 0 0.00623 0 0 MPDZ 8777 broad.mit.edu 37 9 13109986 13109986 + Silent SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr9:13109986C>A uc010mhy.2 - 43 5871 c.5820G>T c.(5818-5820)GGG>GGT p.G1940G MPDZ_uc003zkx.3_Silent_p.G164G|MPDZ_uc003zky.3_Silent_p.G503G|MPDZ_uc010mib.2_Silent_p.G674G|MPDZ_uc010mhx.2_Silent_p.G791G|MPDZ_uc011lmm.1_Silent_p.G828G|MPDZ_uc003zkz.3_Silent_p.G662G|MPDZ_uc010mhz.2_Silent_p.G1936G|MPDZ_uc011lmn.1_Silent_p.G1907G|MPDZ_uc003zlb.3_Silent_p.G1940G NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1969 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) TTGACGTCAGCCCAGTGAAAG 0.458 NA 5 13 0.000602214 0.000642607 0.000602 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777150 18777150 + Silent SNP A A C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr9:18777150A>C uc003zne.3 + 19 3050 c.2923A>C c.(2923-2925)AGA>CGA p.R975R NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 975 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) CTTGAGCCCGAGAAGTGAGGA 0.647 NA 5 40 0 0 0.000602 0 0 FAM154A 158297 broad.mit.edu 37 9 18929019 18929019 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr9:18929019C>T uc003zni.1 - 4 734 c.456G>A c.(454-456)GAG>GAA p.E152E FAM154A_uc010mip.1_5'UTR NM_153707 NP_714918 Q8IYX7 F154A_HUMAN hypothetical protein LOC158297 152 pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.53e-16) GACGAAGTGGCTCTCGCCTTG 0.423 NA 7 42 0 0 0.006214 0 0 RRAGA 10670 broad.mit.edu 37 9 19050308 19050308 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr9:19050308C>T uc003znj.2 + 1 937 c.651C>T c.(649-651)TAC>TAT p.Y217Y NM_006570 NP_006561 Q7L523 RRAGA_HUMAN Ras-related GTP binding A 217 apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction Golgi apparatus|lysosome|nucleus GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity 0 TTTCCCACTACCAGTGCAAAG 0.478 NA 8 76 0 0 0.010729 0 0 AQP7 364 broad.mit.edu 37 9 33385097 33385097 + Missense_Mutation SNP G G A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr9:33385097G>A uc003zst.2 - 8 1107 c.935C>T c.(934-936)TCT>TTT p.S312F SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_3'UTR NM_001170 NP_001161 O14520 AQP7_HUMAN aquaporin 7 312 Cytoplasmic (Potential). excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity 0 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) GGTGAGGGGAGAGATCGTGGG 0.557 NA 16 244 0 0 0.010504 0 0 NPR2 4882 broad.mit.edu 37 9 35799660 35799660 + Nonsense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr9:35799660C>T uc003zyd.2 + 3 919 c.919C>T c.(919-921)CAG>TAG p.Q307* NPR2_uc010mlb.2_Nonsense_Mutation_p.Q307* NM_003995 NP_003986 P20594 ANPRB_HUMAN natriuretic peptide receptor B precursor 307 Extracellular (Potential). intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity ovary(2)|stomach(1) 3 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) TCCTGAGTATCAGGAATTCCA 0.507 NA 13 61 0 0 0.004007 0 0 FLJ46321 389763 broad.mit.edu 37 9 84608347 84608347 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr9:84608347C>A uc004amn.2 + 4 3009 c.2962C>A c.(2962-2964)CCT>ACT p.P988T NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 988 integral to membrane 0 TCGTCCTCACCCTGTCTCCTC 0.498 NA 34 100 2.42023e-17 3.16075e-17 0.003271 1 0 C9orf102 375748 broad.mit.edu 37 9 98685569 98685569 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr9:98685569C>G uc004avt.3 + 9 1862 c.1474C>G c.(1474-1476)CAG>GAG p.Q492E C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.Q194E|C9orf102_uc010mry.1_Missense_Mutation_p.Q194E|C9orf102_uc010mrz.2_Missense_Mutation_p.Q303E|C9orf102_uc004avu.2_Translation_Start_Site NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 492 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) GATATGTGATCAGGTATTTTC 0.343 NA 4 57 0 0 0.001168 0 0 ASTN2 23245 broad.mit.edu 37 9 119738458 119738458 + Silent SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr9:119738458G>T uc004bjs.1 - 9 1787 c.1686C>A c.(1684-1686)CCC>CCA p.P562P ASTN2_uc004bjr.1_Silent_p.P562P|ASTN2_uc004bjt.1_Silent_p.P511P NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 562 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GTGTCGTGTAGGGCCAAGGTC 0.493 NA 3 19 0.004672 0.00485223 0.004672 1 0 ASTN2 23245 broad.mit.edu 37 9 119770395 119770395 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr9:119770395C>T uc004bjs.1 - 7 1668 c.1567G>A c.(1567-1569)GAG>AAG p.E523K ASTN2_uc004bjr.1_Missense_Mutation_p.E523K|ASTN2_uc004bjt.1_Missense_Mutation_p.E472K NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 523 Extracellular (Potential).|EGF-like 1. integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CAGAGCTGCTCACAGGCATCT 0.577 NA 4 54 0 0 0.001168 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377476 125377476 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr9:125377476C>A uc011lyy.1 + 1 460 c.460C>A c.(460-462)CTT>ATT p.L154I NM_012364 NP_036496 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, 154 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TCTCTCCCACCTTCATGCCAT 0.478 NA 24 68 9.22233e-05 0.000101185 0.004656 1 0 SETX 23064 broad.mit.edu 37 9 135211746 135211746 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr9:135211746C>A uc004cbk.2 - 6 838 c.655G>T c.(655-657)GGT>TGT p.G219C NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 219 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) ATCAGTTTACCCTTCTCTAGG 0.338 NA 10 26 9.31168e-06 1.05472e-05 0.001855 1 0 QSOX2 169714 broad.mit.edu 37 9 139107068 139107068 + Missense_Mutation SNP G G C rs145333884 TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr9:139107068G>C uc010nbi.2 - 10 1330 c.1292C>G c.(1291-1293)TCT>TGT p.S431C NM_181701 NP_859052 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 precursor 431 ERV/ALR sulfhydryl oxidase. cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity ovary(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) TTTCCAGAGAGAACACGGGTA 0.488 NA 4 27 0 0 0.009096 0 0 CACNA1B 774 broad.mit.edu 37 9 140811715 140811715 + Missense_Mutation SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr9:140811715C>G uc004cog.2 + 6 943 c.798C>G c.(796-798)TTC>TTG p.F266L NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 266 I.|Extracellular (Potential). 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) TGGGTGACTTCCCCTGTGGCA 0.587 NA 9 33 0 0 0.004482 0 0 IL3RA 3563 broad.mit.edu 37 X 1471302 1471302 + Silent SNP C C G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chrX:1471302C>G uc004cps.2 + 6 868 c.519C>G c.(517-519)CTC>CTG p.L173L IL3RA_uc011mhd.1_Silent_p.L95L NM_002183 NP_002174 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha precursor 173 Extracellular (Potential). integral to membrane|plasma membrane interleukin-3 receptor activity skin(2)|lung(1) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TCTCTCGACTCTCCAGCGGTT 0.542 NA 3 113 0 0 0.004672 0 0 CTPS2 56474 broad.mit.edu 37 X 16717203 16717203 + Silent SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chrX:16717203G>C uc004cxk.2 - 3 924 c.180C>G c.(178-180)GTC>GTG p.V60V CTPS2_uc004cxl.2_Silent_p.V60V|CTPS2_uc004cxm.2_Silent_p.V60V NM_001144002 NP_001137474 Q9NRF8 PYRG2_HUMAN cytidine triphosphate synthase II 60 glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity ovary(1) 1 Hepatocellular(33;0.0997) CATCATTTAAGACGAAGACTT 0.313 NA 22 16 0 0 0.00278 0 0 RBM10 8241 broad.mit.edu 37 X 47039904 47039904 + Missense_Mutation SNP A A T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chrX:47039904A>T uc004dhf.2 + 12 1626 c.1247A>T c.(1246-1248)CAG>CTG p.Q416L RBM10_uc004dhg.2_Missense_Mutation_p.Q338L|RBM10_uc004dhh.2_Missense_Mutation_p.Q415L|RBM10_uc010nhq.2_Missense_Mutation_p.Q339L|RBM10_uc004dhi.2_Missense_Mutation_p.Q481L NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 416 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 GCCATCTCACAGGTACTCAGA 0.602 Melanoma(171;120 2705 19495 39241) NA 5 8 0 0 0.000602 0 0 ARAF 369 broad.mit.edu 37 X 47426121 47426122 + Missense_Mutation DNP CC CC GT TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chrX:47426121_47426122CC>GT uc011mlq.1 + 7 774_775 c.641_642CC>GT c.(640-642)TCC>TGT p.S214C ARAF_uc011mln.1_Intron|ARAF_uc011mlo.1_Missense_Mutation_p.S80C|ARAF_uc011mlp.1_Missense_Mutation_p.S214C|ARAF_uc004dic.1_5'UTR NM_001654 NP_001645 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene 214 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity large_intestine(3)|lung(2)|ovary(1)|skin(1) 7 Adenosine triphosphate(DB00171) CGCTCCACGTCCACTCCCAACG 0.663 NA 6 5 0 0 0.004672 0 0 USP51 158880 broad.mit.edu 37 X 55513511 55513511 + Missense_Mutation SNP A A G TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chrX:55513511A>G uc004dun.1 - 2 1941 c.1862T>C c.(1861-1863)ATG>ACG p.M621T USP51_uc011moo.1_Missense_Mutation_p.M325T NM_201286 NP_958443 Q70EK9 UBP51_HUMAN ubiquitin specific protease 51 621 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 AAACGGAGTCATGTCCAGCTC 0.443 NA 8 8 0 0 0.008291 0 0 ACRC 93953 broad.mit.edu 37 X 70823918 70823918 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chrX:70823918C>T uc004eae.2 + 8 1292 c.791C>T c.(790-792)GCT>GTT p.A264V BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 264 Asp/Ser-rich. nucleus ovary(3) 3 Renal(35;0.156) GATTCGGAAGCTCCCGACGAC 0.557 NA 4 51 0 0 0.000602 0 0 KLHL4 56062 broad.mit.edu 37 X 86888884 86888884 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chrX:86888884C>A uc004efb.2 + 8 1867 c.1685C>A c.(1684-1686)ACA>AAA p.T562K KLHL4_uc004efa.2_Missense_Mutation_p.T562K NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 562 Kelch 3. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 CCTAGAAGCACAGTTGGTGTT 0.433 NA 9 15 0.000442599 0.000476645 0.006214 1 0 CPXCR1 53336 broad.mit.edu 37 X 88008985 88008985 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chrX:88008985C>A uc004efd.3 + 3 829 c.570C>A c.(568-570)CAC>CAA p.H190Q CPXCR1_uc004efc.3_Missense_Mutation_p.H190Q NM_033048 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 190 intracellular zinc ion binding ovary(3) 3 TCACCCATCACGAGAGAGCCA 0.428 NA 12 4 4.7546e-09 5.622e-09 0.004007 1 0 GLUD2 2747 broad.mit.edu 37 X 120182249 120182249 + Silent SNP T T C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chrX:120182249T>C uc004eto.2 + 1 788 c.711T>C c.(709-711)GCT>GCC p.A237A NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 237 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) CCTGGATTGCTGATACCTATG 0.517 NA 26 23 0 0 0.003271 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996370 140996370 + Silent SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chrX:140996370C>T uc004fbt.2 + 4 3466 c.3180C>T c.(3178-3180)CCC>CCT p.P1060P MAGEC1_uc010nsl.1_Silent_p.P127P NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1060 MAGE. protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GGGAGGTGCCCAACTCTTCTC 0.512 NA HNSCC(15;0.026) 4 51 0 0 0.000602 0 0 GABRQ 55879 broad.mit.edu 37 X 151821220 151821220 + Missense_Mutation SNP C C A rs77796656 TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chrX:151821220C>A uc004ffp.1 + 9 1395 c.1375C>A c.(1375-1377)CAG>AAG p.Q459K NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 459 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CACCTCAGAGCAGGCCCGGCA 0.592 NA 12 46 2.61681e-11 3.18016e-11 0.00245 1 0 MTMR10 54893 broad.mit.edu 37 15 31253222 31253224 + In_Frame_Del DEL CCT CCT - TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 CCT CCT - - CCT CCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr15:31253222_31253224delCCT uc001zfh.1 - 7 716_718 c.618_620delAGG c.(616-621)GGAGGT>GGT p.206_207GG>G MTMR10_uc010azx.1_5'UTR|MTMR10_uc001zfi.1_5'UTR|MTMR10_uc001zfj.2_In_Frame_Del_p.124_125GG>G|MTMR10_uc001zfk.2_5'UTR|MTMR10_uc010ubl.1_RNA NM_017762 NP_060232 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 206_207 Poly-Gly. phosphatase activity ovary(1) 1 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) AGCTCCATTAcctcctcctcctc 0.369 NA 4 4 --- --- --- --- NA NA NA NA NA CPLX3 594855 broad.mit.edu 37 15 75122558 75122560 + In_Frame_Del DEL GAG GAG - TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 GAG GAG - - GAG GAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr15:75122558_75122560delGAG uc002ayu.1 + 3 434_436 c.340_342delGAG c.(340-342)GAGdel p.E118del NM_001030005 NP_001025176 Q8WVH0 CPLX3_HUMAN complexin 3 precursor 118 cell junction|synapse syntaxin binding 0 GGAGGACACAGAGGAGGAGGAGG 0.616 NA 7 85 --- --- --- --- NA NA NA NA NA SLC26A11 284129 broad.mit.edu 37 17 78201649 78201651 + In_Frame_Del DEL TGC TGC - TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 TGC TGC - - TGC TGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr17:78201649_78201651delTGC uc002jyb.1 + 7 895_897 c.626_628delTGC c.(625-630)ATGCTG>ATG p.L213del SLC26A11_uc002jyc.1_In_Frame_Del_p.L213del|SLC26A11_uc002jyd.1_In_Frame_Del_p.L213del|SLC26A11_uc010dhv.1_In_Frame_Del_p.L213del NM_173626 NP_775897 Q86WA9 S2611_HUMAN solute carrier family 26, member 11 213 Helical; (Potential). endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity 0 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CTGGTCTGCATGCTGCTGCTGCT 0.675 NA 8 197 --- --- --- --- NA NA NA NA NA FAM38B 63895 broad.mit.edu 37 18 10681669 10681669 + Frame_Shift_Del DEL A A - TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr18:10681669delA uc002kor.3 - 9 1440 c.1300delT c.(1300-1302)TCTfs p.S434fs FAM38B_uc002koq.2_Frame_Shift_Del_p.S269fs NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2477 integral to membrane ion channel activity ovary(1) 1 GTGTCCCTAGAAAAAGCTTGT 0.398 NA 25 67 --- --- --- --- NA NA NA NA NA ZAN 7455 broad.mit.edu 37 7 100373314 100373314 + Frame_Shift_Del DEL C C - TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e4390b89-911b-447e-8b5a-8849274c1691 866211ea-f591-496a-a45b-51b1f3821bf0 g.chr7:100373314delC uc003uwj.2 + 34 6216 c.6051delC c.(6049-6051)CTCfs p.L2017fs ZAN_uc003uwk.2_Frame_Shift_Del_p.L2017fs|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Frame_Shift_Del_p.L104fs NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2017 Extracellular (Potential).|VWFD 3. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGGTCACCCTCCCCGCCATCT 0.567 NA 8 89 --- --- --- --- NA NA NA NA NA